{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0012052/OMIM:608540","label":"Congenital disorder of glycosylation, type Ik","mondoId":"MONDO:0012052","onsetQualifier":null,"recordKeys":["07ee0a4684e309860f293cb5e6413dcec9eef987a67f50fbd29f7254d18aed4e","08018adc743a2e9eba18aa1d50b5ac95d5175cfebf46dd8feca0a4dc5cc0d96d","104e4401c8509220c3b5857730eeb7c97925a487f06064c519d07ee3751b182d","190e0b5e7551c6b677d02049dda2ef63bbfa011398e9ccf0eaf50fe3b556e9eb","213ad7b58a827dd93e9be3564a8565cd48ab4c5606d93a733b7fc3e790492bf1","2d0e2b3193ae3327b38b0541543a0d1c9393d425142aa3b233dd0b6473e2fd41","32f29fe9a8f146c847254bc852f2755c8fa32557fe55ba30469d57b5a17c3d9a","43ed1231b4dd517dd966a3e74dc10e075d3908919f1a72749fa868087285f5a9","4cd453f54f530fecd6664192c88e3468e35667713fae0e7fd8d08f5a38943ac5","53839503e605879ce319c301c1cbdd8f25f39364a4f0dd3ac8a7f6f858cea57d","66db49dfd1b1b9354124d96cdd50f0d688aa80921b70ce4df7e5e83f82a6d1ce","711599bbe6e692426fc752016194553695c407587dd70e1a67b89c0f8c424742","7613a154d01121eeea29b4797017d1faf9d82a8a4f7f908bf383c7f722bb49c0","817e0ecdb56a97a6093ea5f8fb43bddb4f97dab7dc955c43e639a7c4fb24a76b","8240423a7f1d3f127a861b2b2caae6cc44246039412c7d501708aa38f9b3fa3c","9147372a77b86ffc53d71557fd398a255de3137569d387a4f283f6dbc8d2705a","a0115048245990ec14359cbe7c8285c10225038267407ddc423707fb5265d3b8","b613f6f441fa315a247e1d3fe62ebf0d51004ef65b7099a8fce7334a81b04c45","b841590b2b030e2041ecc7b69045e0b92496b9ec05466a9b50fdbcc5cacf0148","ef7a3ded3e0b69384a3200d742acc4257f3b350c7d8552cc7dbc27cd4ce80838","f7768e363d3e35a78215c4cce7bb110f4e247652da8a647d983669c63bde92e5","fda30108375ecb3100c1090142ce60b343add4f00d84635d2c8f84c80bdd9597"],"recordQualifiers":{},"scopeLabel":"OMIM:608540","sourceIds":["OMIM:608540"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012052/ORPHA:79327","label":"ALG1-CDG","mondoId":"MONDO:0012052","onsetQualifier":null,"recordKeys":["0497c26d28a00b748e64faabcab47a025087e65e9f89cbd19ab1b645b2784061","0c2ab86ac7c74a571fcc65e84bb5d6b40514de85d8b818d45971f8cb3bf0abb8","3851c81dccd8383e247f917651c99b016780b7195c9567a52295438e7bfff6fa","3937c6a5a56b837a80c10ba03b38a346bf1487bfbd39575f326a60b93fab3bb9","3fbc1e3d80a0de04786f3d43a7e20d1e62c446d7b33ea3fc3b20f059144675a7","47b9df2c475351099732553e515b979c606e45811b303e3d61235b5fd53d1229","4a5a2a162b90209aa92b61c1aaa1ec276e14cb66be0e347b6848ed5d49236203","4b3279dd00a965dade5f9a42e9e51ab45cee7e74559683536f1b0c076a17fe28","5ff395a69edcf2e73ddcc46fcba94ccf6eae3c198ab02e7871903ecafad48101","61c69100eb5fee2ee29a2eb1f5c84ee13a837cb634de432bf774797f305be231","66cd0e8cd7743f104a5e52657ea3cacc4434260229741975bb57655ee16adeab","696151fedac8525978ceed0a3deb08ea906ae5f71987bbfebd05846040ffc8da","6e1cb6b5206a4ebd321f1b546f53d0e46bdbb35a54a965bcfee8b1786967c2cc","6ebd982f61bc4502a59fe4423d767ccbcb8402040522b04b1704044e6ef8eadf","7e1a8b63d017d04828886c2cbf2f71ec8a84389d5f0b35bc73c5ff4b9300a21c","885570e5db7363da53254db1042f07b0a3b6d3b95983de0b029f7ae990dd58f3","8e7af5d74f87bd38acebe70226040b254bc53b060a55ba3368eb90ef5aa6852e","8ede44300fd683eb0dfe97935c33302b57dad641d9c017533f2a852f3b3307d4","91bb8a7a30ee9be02d53a2670d54b73e61bacd15744099633b75b6235143c442","942967f39316b7ff71b9bd0b860975213701f8d5c37e35d292f280df13334b02","a8acbaba712e4b7b52a21389d83bc6bb77d72e64fadecdbc211760fd20200fea","ac7785880c7352324b662213781323149d3f7aae769d9f8f54f46cdb510c40cd","b8f7d2da4b231618dece7dac47cf01cbddb9ea1c65baef80e90f4fd66f34dbe1","c971aaab38d245c68032b8238abf6a960871b3e6bc5e4771ef6f034ec8c70e09","e0d33aad53c5d1c14e513ceda790a7a3c662803427133b26b522c43e3810cf3e","e77dd93fa619f4344de0df595972806abe12aa24afef57f457b1b0aefc949411","e79b57b033ac8482bfdb39343c43ec4e44d3c88018700eb14a99eca5dceaadf3","e8fa41e989019242395f55837bc63f80ebf7909ceb7797c399c90d3f0df34e2a","eed15397ded00b2df795b7f32c4fca19c454a495b557b9d64f10696abdd3c8e7","efec38390c8ddc4d079e21c3e47c34f9ce9178f8dce91045200f52863a0bd4e0","f2e1ba6897e21e987a09317098feed5023c307a2795ff5911c1fa1175c05d1b9","f525c42803169161f51a6bb9798fd8f170124888eb284fdd1583a14a6b3cf3fb","f78637276714644dee648eb33da43ea920400933ca519614fa9b439278ecdd11"],"recordQualifiers":{},"scopeLabel":"ORPHA:79327","sourceIds":["ORPHA:79327"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0012052/OMIM:608540","MONDO:0012052/ORPHA:79327"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":12,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":55,"sourceGroups":{"omim":10,"orphanet":33,"published":12}},"features":[{"hpoId":"HP:0001999","label":"Abnormal facial shape","primary":false},{"hpoId":"HP:0001627","label":"Abnormal heart morphology","primary":false},{"hpoId":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","primary":false},{"hpoId":"HP:0001560","label":"Abnormality of the amniotic fluid","primary":false},{"hpoId":"HP:0000478","label":"Abnormality of the eye","primary":false},{"hpoId":"HP:0011024","label":"Abnormality of the gastrointestinal tract","primary":false},{"hpoId":"HP:0000077","label":"Abnormality of the kidney","primary":false},{"hpoId":"HP:0000924","label":"Abnormality of the skeletal system","primary":false},{"hpoId":"HP:0001284","label":"Areflexia","primary":false},{"hpoId":"HP:0410263","label":"Brain imaging abnormality","primary":false},{"hpoId":"HP:0001638","label":"Cardiomyopathy","primary":false},{"hpoId":"HP:0001272","label":"Cerebellar atrophy","primary":false},{"hpoId":"HP:0002059","label":"Cerebral atrophy","primary":false},{"hpoId":"HP:0002028","label":"Chronic diarrhea","primary":false},{"hpoId":"HP:0001410","label":"Decreased liver function","primary":false},{"hpoId":"HP:0001371","label":"Flexion contracture","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0003073","label":"Hypoalbuminemia","primary":false},{"hpoId":"HP:0000135","label":"Hypogonadism","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0002721","label":"Immunodeficiency","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001511","label":"Intrauterine growth retardation","primary":false},{"hpoId":"HP:0034392","label":"Joint contracture","primary":false},{"hpoId":"HP:0002808","label":"Kyphosis","primary":false},{"hpoId":"HP:0000239","label":"Large fontanelles","primary":false},{"hpoId":"HP:0001376","label":"Limitation of joint mobility","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0001256","label":"Mild intellectual disability","primary":false},{"hpoId":"HP:0010841","label":"Multifocal epileptiform discharges","primary":false},{"hpoId":"HP:0000100","label":"Nephrotic syndrome","primary":false},{"hpoId":"HP:0001790","label":"Nonimmune hydrops fetalis","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0000253","label":"Progressive microcephaly","primary":false},{"hpoId":"HP:0002243","label":"Protein-losing enteropathy","primary":false},{"hpoId":"HP:0002719","label":"Recurrent infections","primary":false},{"hpoId":"HP:0000083","label":"Renal insufficiency","primary":false},{"hpoId":"HP:0002878","label":"Respiratory failure","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0100806","label":"Sepsis","primary":false},{"hpoId":"HP:0011344","label":"Severe global developmental delay","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0000233","label":"Thin vermilion border","primary":false},{"hpoId":"HP:0003642","label":"Type I transferrin isoform profile","primary":false}],"ledeHtml":"ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems.","mondoId":"MONDO:0012052","records":[{"frequencyKind":"range","key":"0497c26d28a00b748e64faabcab47a025087e65e9f89cbd19ab1b645b2784061","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001871","is_excluded":false,"label":"Abnormality of blood and blood-forming tissues","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"07ee0a4684e309860f293cb5e6413dcec9eef987a67f50fbd29f7254d18aed4e","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003642","is_excluded":false,"label":"Type I transferrin isoform profile","onset_id":null,"reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"08018adc743a2e9eba18aa1d50b5ac95d5175cfebf46dd8feca0a4dc5cc0d96d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"OMIM:608540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0c2ab86ac7c74a571fcc65e84bb5d6b40514de85d8b818d45971f8cb3bf0abb8","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002719","is_excluded":false,"label":"Recurrent infections","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"104e4401c8509220c3b5857730eeb7c97925a487f06064c519d07ee3751b182d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"190e0b5e7551c6b677d02049dda2ef63bbfa011398e9ccf0eaf50fe3b556e9eb","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"OMIM:608540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"213ad7b58a827dd93e9be3564a8565cd48ab4c5606d93a733b7fc3e790492bf1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002059","is_excluded":false,"label":"Cerebral atrophy","onset_id":null,"reference":"OMIM:608540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2d0e2b3193ae3327b38b0541543a0d1c9393d425142aa3b233dd0b6473e2fd41","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001790","is_excluded":false,"label":"Nonimmune hydrops fetalis","onset_id":"HP:0034197","reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"32f29fe9a8f146c847254bc852f2755c8fa32557fe55ba30469d57b5a17c3d9a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:608540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3851c81dccd8383e247f917651c99b016780b7195c9567a52295438e7bfff6fa","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002243","is_excluded":false,"label":"Protein-losing enteropathy","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3937c6a5a56b837a80c10ba03b38a346bf1487bfbd39575f326a60b93fab3bb9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3fbc1e3d80a0de04786f3d43a7e20d1e62c446d7b33ea3fc3b20f059144675a7","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002878","is_excluded":false,"label":"Respiratory failure","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"43ed1231b4dd517dd966a3e74dc10e075d3908919f1a72749fa868087285f5a9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000233","is_excluded":false,"label":"Thin vermilion border","onset_id":null,"reference":"OMIM:608540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"47b9df2c475351099732553e515b979c606e45811b303e3d61235b5fd53d1229","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003073","is_excluded":false,"label":"Hypoalbuminemia","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4a5a2a162b90209aa92b61c1aaa1ec276e14cb66be0e347b6848ed5d49236203","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000083","is_excluded":false,"label":"Renal insufficiency","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4b3279dd00a965dade5f9a42e9e51ab45cee7e74559683536f1b0c076a17fe28","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002028","is_excluded":false,"label":"Chronic diarrhea","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4cd453f54f530fecd6664192c88e3468e35667713fae0e7fd8d08f5a38943ac5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001371","is_excluded":false,"label":"Flexion contracture","onset_id":null,"reference":"OMIM:608540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"53839503e605879ce319c301c1cbdd8f25f39364a4f0dd3ac8a7f6f858cea57d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5ff395a69edcf2e73ddcc46fcba94ccf6eae3c198ab02e7871903ecafad48101","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001272","is_excluded":false,"label":"Cerebellar atrophy","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"61c69100eb5fee2ee29a2eb1f5c84ee13a837cb634de432bf774797f305be231","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001627","is_excluded":false,"label":"Abnormal heart morphology","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"66cd0e8cd7743f104a5e52657ea3cacc4434260229741975bb57655ee16adeab","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002808","is_excluded":false,"label":"Kyphosis","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"66db49dfd1b1b9354124d96cdd50f0d688aa80921b70ce4df7e5e83f82a6d1ce","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:608540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"696151fedac8525978ceed0a3deb08ea906ae5f71987bbfebd05846040ffc8da","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000478","is_excluded":false,"label":"Abnormality of the eye","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6e1cb6b5206a4ebd321f1b546f53d0e46bdbb35a54a965bcfee8b1786967c2cc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6ebd982f61bc4502a59fe4423d767ccbcb8402040522b04b1704044e6ef8eadf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"711599bbe6e692426fc752016194553695c407587dd70e1a67b89c0f8c424742","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":"HP:0034197","reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7613a154d01121eeea29b4797017d1faf9d82a8a4f7f908bf383c7f722bb49c0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0034392","is_excluded":false,"label":"Joint contracture","onset_id":"HP:0003577","reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7e1a8b63d017d04828886c2cbf2f71ec8a84389d5f0b35bc73c5ff4b9300a21c","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100806","is_excluded":false,"label":"Sepsis","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"817e0ecdb56a97a6093ea5f8fb43bddb4f97dab7dc955c43e639a7c4fb24a76b","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000135","is_excluded":false,"label":"Hypogonadism","onset_id":null,"reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8240423a7f1d3f127a861b2b2caae6cc44246039412c7d501708aa38f9b3fa3c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:608540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"885570e5db7363da53254db1042f07b0a3b6d3b95983de0b029f7ae990dd58f3","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8e7af5d74f87bd38acebe70226040b254bc53b060a55ba3368eb90ef5aa6852e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000100","is_excluded":false,"label":"Nephrotic syndrome","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8ede44300fd683eb0dfe97935c33302b57dad641d9c017533f2a852f3b3307d4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000924","is_excluded":false,"label":"Abnormality of the skeletal system","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9147372a77b86ffc53d71557fd398a255de3137569d387a4f283f6dbc8d2705a","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001638","is_excluded":false,"label":"Cardiomyopathy","onset_id":null,"reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"91bb8a7a30ee9be02d53a2670d54b73e61bacd15744099633b75b6235143c442","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000077","is_excluded":false,"label":"Abnormality of the kidney","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"942967f39316b7ff71b9bd0b860975213701f8d5c37e35d292f280df13334b02","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a0115048245990ec14359cbe7c8285c10225038267407ddc423707fb5265d3b8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0010841","is_excluded":false,"label":"Multifocal epileptiform discharges","onset_id":null,"reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a8acbaba712e4b7b52a21389d83bc6bb77d72e64fadecdbc211760fd20200fea","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ac7785880c7352324b662213781323149d3f7aae769d9f8f54f46cdb510c40cd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011344","is_excluded":false,"label":"Severe global developmental delay","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b613f6f441fa315a247e1d3fe62ebf0d51004ef65b7099a8fce7334a81b04c45","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"OMIM:608540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"b841590b2b030e2041ecc7b69045e0b92496b9ec05466a9b50fdbcc5cacf0148","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":"HP:0034197","reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b8f7d2da4b231618dece7dac47cf01cbddb9ea1c65baef80e90f4fd66f34dbe1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0410263","is_excluded":false,"label":"Brain imaging abnormality","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c971aaab38d245c68032b8238abf6a960871b3e6bc5e4771ef6f034ec8c70e09","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002721","is_excluded":false,"label":"Immunodeficiency","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e0d33aad53c5d1c14e513ceda790a7a3c662803427133b26b522c43e3810cf3e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e77dd93fa619f4344de0df595972806abe12aa24afef57f457b1b0aefc949411","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011024","is_excluded":false,"label":"Abnormality of the gastrointestinal tract","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e79b57b033ac8482bfdb39343c43ec4e44d3c88018700eb14a99eca5dceaadf3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e8fa41e989019242395f55837bc63f80ebf7909ceb7797c399c90d3f0df34e2a","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001638","is_excluded":false,"label":"Cardiomyopathy","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eed15397ded00b2df795b7f32c4fca19c454a495b557b9d64f10696abdd3c8e7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002059","is_excluded":false,"label":"Cerebral atrophy","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ef7a3ded3e0b69384a3200d742acc4257f3b350c7d8552cc7dbc27cd4ce80838","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001560","is_excluded":false,"label":"Abnormality of the amniotic fluid","onset_id":null,"reference":"OMIM:608540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"efec38390c8ddc4d079e21c3e47c34f9ce9178f8dce91045200f52863a0bd4e0","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001410","is_excluded":false,"label":"Decreased liver function","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f2e1ba6897e21e987a09317098feed5023c307a2795ff5911c1fa1175c05d1b9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000253","is_excluded":false,"label":"Progressive microcephaly","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f525c42803169161f51a6bb9798fd8f170124888eb284fdd1583a14a6b3cf3fb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001376","is_excluded":false,"label":"Limitation of joint mobility","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f7768e363d3e35a78215c4cce7bb110f4e247652da8a647d983669c63bde92e5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001284","is_excluded":false,"label":"Areflexia","onset_id":null,"reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f78637276714644dee648eb33da43ea920400933ca519614fa9b439278ecdd11","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79327","disease_name":"ALG1-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:79327","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fda30108375ecb3100c1090142ce60b343add4f00d84635d2c8f84c80bdd9597","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:608540","disease_name":"Congenital disorder of glycosylation, type Ik","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000239","is_excluded":false,"label":"Large fontanelles","onset_id":null,"reference":"PMID:14973778","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation\">ALG1-congenital disorder of glycosylation</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the ALG1 gene cause ALG1-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can fully perform their functions. The enzyme produced from the ALG1 gene transfers a simple sugar called mannose to growing oligosaccharides at a particular step in the formation of the sugar chain. Once the correct number of sugar molecules are linked together, the oligosaccharide is attached to a protein or lipid.</p><p>ALG1 gene mutations lead to the production of an abnormal enzyme with reduced activity. The poorly functioning enzyme cannot add mannose to sugar chains efficiently, and the resulting oligosaccharides are often incomplete. Although the short oligosaccharides can be transferred to proteins and fats, the process is not as efficient as with the full-length oligosaccharide. The wide variety of signs and symptoms in ALG1-CDG are likely due to impaired glycosylation of proteins and lipids that are needed for normal function of many organs and tissues.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes ALG1-congenital disorder of glycosylation?"},{"bodyHtml":"<p>Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many affected individuals develop seizures that can be difficult to treat. Individuals with ALG1-CDG may also have movement problems such as involuntary rhythmic shaking (tremor) or difficulties with movement and balance (ataxia).</p><p>People with ALG1-CDG often have problems with blood clotting, which can lead to abnormal clotting or bleeding episodes. Additionally, affected individuals may produce abnormally low levels of proteins called antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). Antibodies help protect the body against infection by foreign particles and germs. A reduction in antibodies can make it difficult for affected individuals to fight infections.</p><p>Some people with ALG1-CDG have physical abnormalities such as a small head size (microcephaly); unusual facial features; joint deformities called contractures; long, slender fingers and toes (arachnodactyly); or unusually fleshy pads at the tips of the fingers and toes. Eye problems that may occur in people with this condition include eyes that do not point in the same direction (strabismus) or involuntary eye movements (nystagmus). Rarely, affected individuals develop vision loss.</p><p>Less common abnormalities that occur in people with ALG1-CDG include respiratory problems, reduced sensation in their arms and legs (peripheral neuropathy), swelling (edema), and gastrointestinal difficulties.</p><p>The signs and symptoms of ALG1-CDG are often severe, with affected individuals surviving only into infancy or childhood. However, some people with this condition are more mildly affected and survive into adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"alg1-congenital-disorder-of-glycosylation","sourceDocuments":[{"name":"ALG1-congenital disorder of glycosylation","reviewed":"2016-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:13.992701+00:00","label":"Causes","pageSha256":"1290d9e8375f26c93c9db06fa6ff987b6a1867ea6684ce72ada542b3460cc653","sourceUrl":"https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"ALG1-congenital disorder of glycosylation"},"schemaVersion":1}