Obesity due to pro-opiomelanocortin deficiency
- Synonyms
- OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR; Obesity, adrenal insufficiency, and red hair due to POMC deficiency; Proopiomelanocortin deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (26 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Hyperbilirubinemia
Hyperbilirubinemia
- MedGen UID: 86321
- Concept ID: C0311468
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperbilirubinemia
- Abnormality of the digestive system
- Cholestasis
Cholestasis
- MedGen UID: 925
- Concept ID: C0008370
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Cholestasis
- Abnormality of the endocrine system
- Adrenal hypoplasia
Adrenal hypoplasia
- MedGen UID: 337539
- Concept ID: C1846223
- Finding: Pathologic Function
Abnormality of the endocrine system
- Adrenal insufficiency
Adrenal insufficiency
- MedGen UID: 1351
- Concept ID: C0001623
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Decreased circulating cortisol level
Decreased circulating cortisol level
- MedGen UID: 322961
- Concept ID: C1836623
- Finding: Finding
Abnormality of the endocrine system
- Decreased growth hormone responses to growth hormone-releasing hormone challenge
Decreased growth hormone responses to growth hormone-releasing hormone challenge
- MedGen UID: 1778726
- Concept ID: C5539698
- Finding: Finding
Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
Decreased response to growth hormone stimulation test
- MedGen UID: 1784655
- Concept ID: C5539399
- Finding: Finding
Abnormality of the endocrine system
- Adrenal hypoplasia
- Abnormality of the integument
- Red hair
Red hair
- MedGen UID: 66796
- Concept ID: C0239803
- Finding: Finding
Abnormality of the integument
- Red hair
- Abnormality of the nervous system
- Congenital isolated adrenocorticotropic hormone deficiency
Congenital isolated adrenocorticotropic hormone deficiency
- MedGen UID: 137968
- Concept ID: C0342388
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Gonadotropin deficiency
Gonadotropin deficiency
- MedGen UID: 1632671
- Concept ID: C4552011
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hypoglycemic seizures
Hypoglycemic seizures
- MedGen UID: 164079
- Concept ID: C0877056
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Polyphagia
Polyphagia
- MedGen UID: 9369
- Concept ID: C0020505
- Finding: Finding
Abnormality of the nervous system
- Congenital isolated adrenocorticotropic hormone deficiency
- Growth abnormality
- Obesity
Obesity
- MedGen UID: 18127
- Concept ID: C0028754
- Finding: Disease or Syndrome
Growth abnormality
- Obesity
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