Disease #02872 (OBAIRH (obesity, adrenal insufficiency, red hair (OBAIRH, proopiomelanocortin deficiency)), OMIM:609734)

Official abbreviation OBAIRH
Name obesity, adrenal insufficiency, red hair (OBAIRH, proopiomelanocortin deficiency)
OMIM ID 609734
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene POMC
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00398854 FamPat1 PubMed: Krude 1998 2-generation family, 2 affected (brother/sister), unaffected heterozygous carrier parents F no Germany - - - - - OBAIRH see paper; ..., obesity, red hair pigmentation and ACTH deficiency; brother 7m-died hepatic failure following severe cholestasis caused by adrenal insufficiency due to bilateral adrenal hypoplasia POMC POMC 2 1 Johan den Dunnen
00398855 Pat2 PubMed: Krude 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - OBAIRH see paper; ..., obesity, red hair pigmentation, ACTH defiiciency POMC POMC 1 1 Johan den Dunnen
00398857 Fam1 PubMed: Krude 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Slovenia - - - - - OBAIRH see paper; ..., early-onset obesity, red hair, hypocortisolism, hypoglycemia, convulsions POMC POMC 2 1 Johan den Dunnen
00398858 Fam2 PubMed: Krude 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - - - - - OBAIRH see paper; ..., 2d-low serum glucose levels, 4w-generalized convulsions, obesity, red hair pigmentation, ACTH defiiciency POMC POMC 1 1 Johan den Dunnen
00398859 Fam3 PubMed: Krude 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Switzerland - - - - - OBAIRH see paper; ..., 6m-convulsions, hypoglycemia due to ACTH deficiency, red hair, pale skin POMC POMC 2 1 Johan den Dunnen
00436835 FamPatIII1 PubMed: Shchagina 2023 3-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - Russia Perm’ Tatar - - - - OBAIRH see paper; ..., obesity, adrenal insufficiency, red hair syndrome POMC POMC 1 2 Johan den Dunnen
00436836 FamPatIII2 (PatD) PubMed: Shchagina 2023 nephew M - Russia Perm’ Tatar - - - - DMD, OBAIRH see paper; ..., elevated CK (14,333 U/L), see paper; ..., excessive body mass/height, red hair, hypoglycemia episodes, decrease in cortisol level DMD, POMC DMD, POMC 2 1 Johan den Dunnen
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