{"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:0012335/OMIM:609734","label":"Obesity, early-onset, with adrenal insufficiency and red hair","mondoId":"MONDO:0012335","onsetQualifier":null,"recordKeys":["1afa9155ed4e39055fce58025526d46cb6e7170fdecf89d532e330ddb2d73e37","2585f5025f2186d522b78df71a02fd3694f592bdf20b1f6b255ad455356773da","25abd67e892dc395a2fa1a0366bc23b23d7c91bbd2c0807d4640a29d2bc1c7a9","2e4be7312915580bdacbf6eb5e968190340ccbb7c4d63ebbfc50c94d14195aed","448e3914c2f013de31773ee2289e77c14fa71316f24bf3f796a54f5877d178a0","460ddfe4ef78ad849c523191e2b57dc0daad4bb49da48b4715b13f55bf2eb67d","7e24db73a637eaba1c32a03a7e67e441304e4d23b948de5ab93c61525c5d3d73","a25e884b86f1eeeb63f73bcc2600efab3bf06b73a6ef078bfb36e73a00bc90d4","a679cce3a82efd1b7e25e6ac232b6266ab746c9e76c7773f386a522da4acd6fc","bd118674a13f95fce54d0858d22c7a957a83fea25aa22ff044ea15a2ef4c9340","c32c8c4047ba341da1d1bb9160478051ef9e9440459ca588a4ce5c62d588ac4c","d4647ede83bc96566d530db492c40334689a9c9f63ae97e5411c97ce41c559f9","f40711b90f23b43fecf7fb161354e9fbc01fa215f633bd43c5686e8b6b0e7660"],"recordQualifiers":{},"scopeLabel":"OMIM:609734","sourceIds":["OMIM:609734"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012335/ORPHA:71526","label":"Obesity due to pro-opiomelanocortin deficiency","mondoId":"MONDO:0012335","onsetQualifier":null,"recordKeys":["22e955a9e8e7c0ff1e6762d1659e5a6b3f48f3c798f6e24b5aa54b1171a1ea81","2657036ec2d434f47d91b3165023214cfe83be9b04fadf8a7f2b68858439912f","31358046204ebd7eaf870457d42db4247a55021c67c1f6a1e4a055f1af416597","31737dc6ae0e4dafeb2703a9ed988168e396a3f32fb2b1c775191a46ce96d795","4eeae3c2c6a7f1f9308625a4140e0ab9d4c1fdedb6fb1309e8cc09608e8d0f7c","52e84997c9c1b8a63d82c26bccd15be85bee9f7c6e73c204be4bdbb889d94c6f","5ae9b689c729ca38711a204d7434db312f0c860c3fea59705c45957e26471888","6be423ec2bf14a0a999416a4518a2bb1f9cee58b6a22c5bb559d6a069a7c53d2","7989bfe96d29c4daba63546f0405888748ec393ff3215bb11b7f5297e40b98ae","79e32b08b9db2718744cfa14816cdc14302032e0c6c5d3f6e01cae3853099889","bd655cc2b252778289fb800d763529a0a38d3c3e6765c2c1c8e5ef3411b2b02a","bf0a0bcc4d5b1363f9d5b76c076b3388b6d596ef76e4f6c6db5606ad0220cf06","c9ed72c0c2cde1af6dfdbfe4ea8d70059eb2cb7d8b35337b00e2f540c5b8601f","d5d7467429a586cd5ee95273bc8a85e9977a4c2623100ccb31a5b3f077113c6f","e6109bebb6736dfdf6c942dd33bdc6530022458d969c7d41a96edf068c2c60a7","f0f3584645527877de9c4f0725d2b721d72083b73907eb61d418e3385584c6fc","f1ebcb302834a492562359dc2bc19d700a1aba8d29899dc8959501ae8b8087d8","f6b20982c18871971ded66eff4a176c30a8aca540c0e67517fd87dba5776178a"],"recordQualifiers":{},"scopeLabel":"ORPHA:71526","sourceIds":["ORPHA:71526"],"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:0012335/OMIM:609734","MONDO:0012335/ORPHA:71526"],"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":6,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":31,"sourceGroups":{"omim":7,"orphanet":18,"published":6}},"features":[{"hpoId":"HP:0000956","label":"Acanthosis nigricans","primary":false},{"hpoId":"HP:0000835","label":"Adrenal hypoplasia","primary":false},{"hpoId":"HP:0000846","label":"Adrenal insufficiency","primary":false},{"hpoId":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","primary":false},{"hpoId":"HP:0011734","label":"Central adrenal insufficiency","primary":false},{"hpoId":"HP:0008915","label":"Childhood-onset truncal obesity","primary":false},{"hpoId":"HP:0001396","label":"Cholestasis","primary":false},{"hpoId":"HP:0008163","label":"Decreased circulating cortisol level","primary":false},{"hpoId":"HP:0033579","label":"Decreased growth hormone responses to growth hormone-releasing hormone challenge","primary":false},{"hpoId":"HP:0000824","label":"Decreased response to growth hormone stimulation test","primary":false},{"hpoId":"HP:0000823","label":"Delayed puberty","primary":false},{"hpoId":"HP:0002750","label":"Delayed skeletal maturation","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0008213","label":"Gonadotropin deficiency","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0002904","label":"Hyperbilirubinemia","primary":false},{"hpoId":"HP:0000842","label":"Hyperinsulinemia","primary":false},{"hpoId":"HP:0002173","label":"Hypoglycemic seizures","primary":false},{"hpoId":"HP:0001010","label":"Lighter skin pigmentation","primary":false},{"hpoId":"HP:0009126","label":"Increased adipose tissue","primary":false},{"hpoId":"HP:0001513","label":"Obesity","primary":false},{"hpoId":"HP:0008245","label":"Pituitary hypothyroidism","primary":false},{"hpoId":"HP:0002591","label":"Polyphagia","primary":false},{"hpoId":"HP:0002297","label":"Red hair","primary":false}],"ledeHtml":"Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.","mondoId":"MONDO:0012335","records":[{"frequencyKind":"count","key":"1afa9155ed4e39055fce58025526d46cb6e7170fdecf89d532e330ddb2d73e37","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0033579","is_excluded":false,"label":"Decreased growth hormone responses to growth hormone-releasing hormone challenge","onset_id":null,"reference":"PMID:9620771","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"22e955a9e8e7c0ff1e6762d1659e5a6b3f48f3c798f6e24b5aa54b1171a1ea81","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2585f5025f2186d522b78df71a02fd3694f592bdf20b1f6b255ad455356773da","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001396","is_excluded":false,"label":"Cholestasis","onset_id":null,"reference":"OMIM:609734","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"25abd67e892dc395a2fa1a0366bc23b23d7c91bbd2c0807d4640a29d2bc1c7a9","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0008163","is_excluded":false,"label":"Decreased circulating cortisol level","onset_id":null,"reference":"PMID:9620771","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2657036ec2d434f47d91b3165023214cfe83be9b04fadf8a7f2b68858439912f","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011734","is_excluded":false,"label":"Central adrenal insufficiency","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2e4be7312915580bdacbf6eb5e968190340ccbb7c4d63ebbfc50c94d14195aed","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008213","is_excluded":false,"label":"Gonadotropin deficiency","onset_id":null,"reference":"OMIM:609734","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"31358046204ebd7eaf870457d42db4247a55021c67c1f6a1e4a055f1af416597","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008245","is_excluded":false,"label":"Pituitary hypothyroidism","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"31737dc6ae0e4dafeb2703a9ed988168e396a3f32fb2b1c775191a46ce96d795","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002591","is_excluded":false,"label":"Polyphagia","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"448e3914c2f013de31773ee2289e77c14fa71316f24bf3f796a54f5877d178a0","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000846","is_excluded":false,"label":"Adrenal insufficiency","onset_id":null,"reference":"OMIM:609734","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"460ddfe4ef78ad849c523191e2b57dc0daad4bb49da48b4715b13f55bf2eb67d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0002591","is_excluded":false,"label":"Polyphagia","onset_id":null,"reference":"PMID:9620771","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4eeae3c2c6a7f1f9308625a4140e0ab9d4c1fdedb6fb1309e8cc09608e8d0f7c","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000823","is_excluded":false,"label":"Delayed puberty","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"52e84997c9c1b8a63d82c26bccd15be85bee9f7c6e73c204be4bdbb889d94c6f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002173","is_excluded":false,"label":"Hypoglycemic seizures","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5ae9b689c729ca38711a204d7434db312f0c860c3fea59705c45957e26471888","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040280","hpo_id":"HP:0001513","is_excluded":false,"label":"Obesity","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6be423ec2bf14a0a999416a4518a2bb1f9cee58b6a22c5bb559d6a069a7c53d2","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001010","is_excluded":false,"label":"Hypopigmentation of the skin","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7989bfe96d29c4daba63546f0405888748ec393ff3215bb11b7f5297e40b98ae","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008915","is_excluded":false,"label":"Childhood-onset truncal obesity","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"79e32b08b9db2718744cfa14816cdc14302032e0c6c5d3f6e01cae3853099889","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000824","is_excluded":false,"label":"Decreased response to growth hormone stimulation test","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7e24db73a637eaba1c32a03a7e67e441304e4d23b948de5ab93c61525c5d3d73","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"IEA","frequency_raw":"HP:0040284","hpo_id":"HP:0000824","is_excluded":false,"label":"Decreased response to growth hormone stimulation test","onset_id":null,"reference":"OMIM:609734","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a25e884b86f1eeeb63f73bcc2600efab3bf06b73a6ef078bfb36e73a00bc90d4","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002904","is_excluded":false,"label":"Hyperbilirubinemia","onset_id":null,"reference":"OMIM:609734","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a679cce3a82efd1b7e25e6ac232b6266ab746c9e76c7773f386a522da4acd6fc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002173","is_excluded":false,"label":"Hypoglycemic seizures","onset_id":null,"reference":"OMIM:609734","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"bd118674a13f95fce54d0858d22c7a957a83fea25aa22ff044ea15a2ef4c9340","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0011748","is_excluded":false,"label":"Adrenocorticotropic hormone deficiency","onset_id":null,"reference":"PMID:9620771","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"bd655cc2b252778289fb800d763529a0a38d3c3e6765c2c1c8e5ef3411b2b02a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040280","hpo_id":"HP:0009126","is_excluded":false,"label":"Increased adipose tissue","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bf0a0bcc4d5b1363f9d5b76c076b3388b6d596ef76e4f6c6db5606ad0220cf06","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008213","is_excluded":false,"label":"Gonadotropin deficiency","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c32c8c4047ba341da1d1bb9160478051ef9e9440459ca588a4ce5c62d588ac4c","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000835","is_excluded":false,"label":"Adrenal hypoplasia","onset_id":null,"reference":"OMIM:609734","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c9ed72c0c2cde1af6dfdbfe4ea8d70059eb2cb7d8b35337b00e2f540c5b8601f","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d4647ede83bc96566d530db492c40334689a9c9f63ae97e5411c97ce41c559f9","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001513","is_excluded":false,"label":"Obesity","onset_id":null,"reference":"PMID:9620771","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d5d7467429a586cd5ee95273bc8a85e9977a4c2623100ccb31a5b3f077113c6f","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e6109bebb6736dfdf6c942dd33bdc6530022458d969c7d41a96edf068c2c60a7","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000842","is_excluded":false,"label":"Hyperinsulinemia","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f0f3584645527877de9c4f0725d2b721d72083b73907eb61d418e3385584c6fc","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000956","is_excluded":false,"label":"Acanthosis nigricans","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f1ebcb302834a492562359dc2bc19d700a1aba8d29899dc8959501ae8b8087d8","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002297","is_excluded":false,"label":"Red hair","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f40711b90f23b43fecf7fb161354e9fbc01fa215f633bd43c5686e8b6b0e7660","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:609734","disease_name":"Obesity, early-onset, with adrenal insufficiency and red hair","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002297","is_excluded":false,"label":"Red hair","onset_id":null,"reference":"PMID:9620771","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f6b20982c18871971ded66eff4a176c30a8aca540c0e67517fd87dba5776178a","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:71526","disease_name":"Obesity due to pro-opiomelanocortin deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001396","is_excluded":false,"label":"Cholestasis","onset_id":null,"reference":"ORPHA:71526","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency\">Proopiomelanocortin deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cortisol from the adrenal glands. Cortisol is involved in the maintenance of blood glucose levels. Another peptide, alpha-melanocyte stimulating hormone (α-MSH), plays a role in the production of the pigment that gives skin and hair their color. The α-MSH peptide and another peptide called beta-melanocyte stimulating hormone (β-MSH) act in the brain to help maintain the balance between energy from food taken into the body and energy spent by the body. The correct balance is important to control eating and weight.</p><p>POMC gene mutations that cause POMC deficiency result in production of an abnormally short version of the POMC protein or no protein at all. As a result, there is a shortage of the peptides made from POMC, including ACTH, α-MSH, and β-MSH. Without ACTH, there is a reduction in cortisol production, leading to adrenal insufficiency. Decreased α-MSH in the skin reduces pigment production, resulting in the red hair and pale skin often seen in people with POMC deficiency. Loss of α-MSH and β-MSH in the brain dysregulates the body&#x27;s energy balance, leading to overeating and severe obesity.</p><p>POMC deficiency is a rare cause of obesity; POMC gene mutations are not frequently associated with more common, complex forms of obesity. Researchers are studying other factors that are likely involved in these forms.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Proopiomelanocortin deficiency?"},{"bodyHtml":"<p>Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely obese by age 1. Affected individuals experience excessive hunger and remain obese for life. It is unclear if these individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes.</p><p>Low levels of ACTH lead to a condition called adrenal insufficiency, which occurs when the pair of small glands on top of the kidneys (the adrenal glands) do not produce enough hormones. Adrenal insufficiency often results in periods of severely low blood sugar (glucose), known as hypoglycemia. Adrenal insufficiency may also cause seizures, elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia), and a reduced ability to produce and release a digestive fluid called bile (cholestasis). Without early treatment, adrenal insufficiency can be fatal.</p><p>Pale skin that easily burns when exposed to the sun and red hair are common in POMC deficiency, although not everyone with the condition has these characteristics.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"proopiomelanocortin-deficiency","sourceDocuments":[{"name":"Proopiomelanocortin deficiency","reviewed":"2014-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:29.058520+00:00","label":"Causes","pageSha256":"ddaa56c94b5d6d6c3f4edee71e4c7ab3bc692eaa36bca3ca2e7131739bd06ad3","sourceUrl":"https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency"}],"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":"Proopiomelanocortin deficiency"},"schemaVersion":1}