{"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:0009737/OMIM:256540","label":"Galactosialidosis","mondoId":"MONDO:0009737","onsetQualifier":null,"recordKeys":["086034a82e1703657dd5c3197112946bc75d013e755f397ed9997d50df85c3c8","0f20f044cc40e279be2b4aa371cf28a23118c3759ee87fffbe58029e279efd31","15b08143a432e5eaced768ed477d32c3250a0aa9db8f208566e6a35c1c0034e5","200276b2f82b64fba178f29232ff3d1694bc82599497c5f2cdebbc4a597de5df","2f86e88c82a79124a065dad3057d64df37cccce023b9dd404a6bfb886b7dd418","3f27b409097060010c5a31611e9864ea06b0f4686eac13658429c111aba576a0","4d4d42862a55cdf9917102d840fdaed6d60cff76c71fbca1bc4598946eb59744","4e88761e1b407818048f69c5a2e29079f1caf52a8174fe8472a27b962bf4fc7d","61529d6e3a7b247ecdf18498737a1108aa3dabdb5470696d5c06dc430f827fc4","6dc65cebbdf8808fc3cae722dffd45ddd0226fe53e427811333dd0f4f06950ea","acca561fa2555d01f904bfb7c7f2cd6adac8317278041c7dec4a48381b9668c6","b9da16b7e56cef0faaf27ca14fb33b09e758ddfccb4dfd8b0c0ee3963c3859d0","bd6f691a38fe0c72c2c5f6c3179c3963679d97e2f0ce6e1fb216c6eb567a553c","fa7d6b10d8a532b4239add646d84460d5f51a666bf776bef63bc076484061d2d"],"recordQualifiers":{},"scopeLabel":"OMIM:256540","sourceIds":["OMIM:256540"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009737/ORPHA:351","label":"Galactosialidosis","mondoId":"MONDO:0009737","onsetQualifier":null,"recordKeys":["01fe77330f9016f500e3df1f01c6ddef732445305f97578194656532cdf34a01","030d49cf1d70d3be477154cdb3e5053560ba6169f010c3a26f6fb8cdfb983dda","04925a20b7ec13983aa75c22d22738563f483ada054a15a03c36cfe550c77a5f","3aa538b9acebbe4f0a8a0ea007455d466b3689fe39b77950cb9bfb26315b96ff","442e0e3a89633efd8052aaaac79c7c817dce8f2d09ea6f513e73a40fb349b831","5c09991449c8c4292e19665c645428963d50cb08913134e384f7c17e615836c0","b5dcc835e1b2eac283fde79beeca1ea0d4a0314a5d6341d8d25b13c37b31ac7d","b91cbdddbdbe96aa3ba13aeaef9b006cbe140e45a23a925c7057da5aa240d5e5","c10be34ff9c7a6f71241cfb8ddc8b41a4d1189b1374c10abca2fab5e4c1454c3"],"recordQualifiers":{},"scopeLabel":"ORPHA:351","sourceIds":["ORPHA:351"],"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:0009737/OMIM:256540","MONDO:0009737/ORPHA:351"],"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":1,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":23,"sourceGroups":{"omim":9,"orphanet":9,"published":5}},"features":[{"hpoId":"HP:0003468","label":"Abnormal vertebral morphology","primary":false},{"hpoId":"HP:0000925","label":"Abnormality of the vertebral column","primary":false},{"hpoId":"HP:0010729","label":"Cherry red spot of the macula","primary":false},{"hpoId":"HP:0000280","label":"Coarse facial features","primary":false},{"hpoId":"HP:0000524","label":"Conjunctival telangiectasia","primary":false},{"hpoId":"HP:0007957","label":"Corneal opacity","primary":false},{"hpoId":"HP:0008166","label":"Decreased beta-galactosidase activity","primary":false},{"hpoId":"HP:0000943","label":"Dysostosis multiplex","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0001028","label":"Hemangioma","primary":false},{"hpoId":"HP:0001433","label":"Hepatosplenomegaly","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001790","label":"Nonimmune hydrops fetalis","primary":false},{"hpoId":"HP:0007759","label":"Opacification of the corneal stroma","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0003510","label":"Severe short stature","primary":false},{"hpoId":"HP:0002652","label":"Skeletal dysplasia","primary":false},{"hpoId":"HP:0003271","label":"Visceromegaly","primary":false}],"ledeHtml":"Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.","mondoId":"MONDO:0009737","records":[{"frequencyKind":"range","key":"01fe77330f9016f500e3df1f01c6ddef732445305f97578194656532cdf34a01","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:351","disease_name":"Galactosialidosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000280","is_excluded":false,"label":"Coarse facial features","onset_id":null,"reference":"ORPHA:351","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"030d49cf1d70d3be477154cdb3e5053560ba6169f010c3a26f6fb8cdfb983dda","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:351","disease_name":"Galactosialidosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007957","is_excluded":false,"label":"Corneal opacity","onset_id":null,"reference":"ORPHA:351","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"04925a20b7ec13983aa75c22d22738563f483ada054a15a03c36cfe550c77a5f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:351","disease_name":"Galactosialidosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002652","is_excluded":false,"label":"Skeletal dysplasia","onset_id":null,"reference":"ORPHA:351","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"086034a82e1703657dd5c3197112946bc75d013e755f397ed9997d50df85c3c8","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001433","is_excluded":false,"label":"Hepatosplenomegaly","onset_id":null,"reference":"OMIM:256540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0f20f044cc40e279be2b4aa371cf28a23118c3759ee87fffbe58029e279efd31","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000524","is_excluded":false,"label":"Conjunctival telangiectasia","onset_id":null,"reference":"OMIM:256540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"15b08143a432e5eaced768ed477d32c3250a0aa9db8f208566e6a35c1c0034e5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000943","is_excluded":false,"label":"Dysostosis multiplex","onset_id":null,"reference":"OMIM:256540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"200276b2f82b64fba178f29232ff3d1694bc82599497c5f2cdebbc4a597de5df","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000280","is_excluded":false,"label":"Coarse facial features","onset_id":"HP:0003593","reference":"PMID:23915561","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2f86e88c82a79124a065dad3057d64df37cccce023b9dd404a6bfb886b7dd418","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001790","is_excluded":false,"label":"Nonimmune hydrops fetalis","onset_id":"HP:0030674","reference":"PMID:19466716","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3aa538b9acebbe4f0a8a0ea007455d466b3689fe39b77950cb9bfb26315b96ff","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:351","disease_name":"Galactosialidosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003468","is_excluded":false,"label":"Abnormal vertebral morphology","onset_id":null,"reference":"ORPHA:351","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3f27b409097060010c5a31611e9864ea06b0f4686eac13658429c111aba576a0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0010729","is_excluded":false,"label":"Cherry red spot of the macula","onset_id":"HP:0003593","reference":"PMID:23915561","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"442e0e3a89633efd8052aaaac79c7c817dce8f2d09ea6f513e73a40fb349b831","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:351","disease_name":"Galactosialidosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:351","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4d4d42862a55cdf9917102d840fdaed6d60cff76c71fbca1bc4598946eb59744","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003510","is_excluded":false,"label":"Severe short stature","onset_id":null,"reference":"OMIM:256540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4e88761e1b407818048f69c5a2e29079f1caf52a8174fe8472a27b962bf4fc7d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0003271","is_excluded":false,"label":"Visceromegaly","onset_id":"HP:0003593","reference":"PMID:23915561","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5c09991449c8c4292e19665c645428963d50cb08913134e384f7c17e615836c0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:351","disease_name":"Galactosialidosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010729","is_excluded":false,"label":"Cherry red spot of the macula","onset_id":null,"reference":"ORPHA:351","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"61529d6e3a7b247ecdf18498737a1108aa3dabdb5470696d5c06dc430f827fc4","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007759","is_excluded":false,"label":"Opacification of the corneal stroma","onset_id":null,"reference":"OMIM:256540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6dc65cebbdf8808fc3cae722dffd45ddd0226fe53e427811333dd0f4f06950ea","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:23915561","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"acca561fa2555d01f904bfb7c7f2cd6adac8317278041c7dec4a48381b9668c6","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008166","is_excluded":false,"label":"Decreased beta-galactosidase activity","onset_id":null,"reference":"OMIM:256540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b5dcc835e1b2eac283fde79beeca1ea0d4a0314a5d6341d8d25b13c37b31ac7d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:351","disease_name":"Galactosialidosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:351","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b91cbdddbdbe96aa3ba13aeaef9b006cbe140e45a23a925c7057da5aa240d5e5","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:351","disease_name":"Galactosialidosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:351","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b9da16b7e56cef0faaf27ca14fb33b09e758ddfccb4dfd8b0c0ee3963c3859d0","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"OMIM:256540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bd6f691a38fe0c72c2c5f6c3179c3963679d97e2f0ce6e1fb216c6eb567a553c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:256540","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c10be34ff9c7a6f71241cfb8ddc8b41a4d1189b1374c10abca2fab5e4c1454c3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:351","disease_name":"Galactosialidosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000925","is_excluded":false,"label":"Abnormality of the vertebral column","onset_id":null,"reference":"ORPHA:351","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fa7d6b10d8a532b4239add646d84460d5f51a666bf776bef63bc076484061d2d","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:256540","disease_name":"Galactosialidosis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001028","is_excluded":false,"label":"Hemangioma","onset_id":null,"reference":"OMIM:256540","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/galactosialidosis\">Galactosialidosis</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the CTSA gene cause all the forms of galactosialidosis. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works together with two enzymes, neuraminidase 1 and beta-galactosidase, to form a protein complex. This complex breaks down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found on the cell surface, where it forms a complex with neuraminidase 1 and a protein called elastin-binding protein. Elastin-binding protein plays a role in the formation of elastic fibers, which are components of the connective tissues that make up the body&#x27;s supportive framework.</p><p>CTSA gene variants interfere with the normal function of cathepsin A. Most of the variants that cause galactosialidosis disrupt the protein structure of cathepsin A, impairing its ability to form complexes with neuraminidase 1, beta-galactosidase, and elastin-binding protein. As a result, these other enzymes are not functional, or they break down prematurely.</p><p>Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In people with galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/galactosialidosis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Galactosialidosis?"},{"bodyHtml":"<p>The early infantile form of galactosialidosis is associated with extensive swelling caused by fluid accumulation before birth (hydrops fetalis), a soft out-pouching in the lower abdomen (an inguinal hernia), and an enlarged liver and spleen (hepatosplenomegaly). Additional features of this form include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as &quot;coarse.&quot; Some infants have an enlarged heart (cardiomegaly), an eye abnormality called a cherry-red spot, and kidney disease that can progress to kidney failure. Infants with this form usually are diagnosed between birth and 3 months of age; they typically live to around 6 months of age.</p><p>The late infantile form of galactosialidosis shares some features with the early infantile form, although the signs and symptoms are somewhat less severe and begin later in infancy. This form is characterized by short stature, dysostosis multiplex, heart valve problems, hepatosplenomegaly, and &quot;coarse&quot; facial features. Other symptoms seen in some individuals with this type include intellectual disabilities, hearing loss, and a cherry-red spot. Children with this condition typically develop symptoms around 2 years old. The life expectancy of individuals with this type varies depending on the severity of symptoms.</p><p>The juvenile/adult form of galactosialidosis has signs and symptoms that are somewhat different from those of the other two types. This form is distinguished by difficulty coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and intellectual disabilities that worsen over time. People with this form typically also have dark red spots on the skin (angiokeratomas), abnormalities in the bones of the spine, &quot;coarse&quot; facial features, a cherry-red spot, vision loss, and hearing loss. The age at which symptoms begin to develop varies widely among affected individuals, but the average age is 16. This form is typically associated with a nearly normal life expectancy.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/galactosialidosis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"galactosialidosis","sourceDocuments":[{"name":"Galactosialidosis","reviewed":"2024-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:41.412682+00:00","label":"Causes","pageSha256":"b0e6da26eb81e86ba688ca959324b90b4e9bb3771c05797bf608059d84ce4e85","sourceUrl":"https://medlineplus.gov/genetics/condition/galactosialidosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/galactosialidosis"}],"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":"Galactosialidosis"},"schemaVersion":1}