CIDEC-related familial partial lipodystrophy- MedGen UID:
- 815270
- •Concept ID:
- C3808940
- •
- Disease or Syndrome
A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and gluteofemoral subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidaemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.
Hyperinsulinemic hypoglycemia, familial, 8- MedGen UID:
- 1824072
- •Concept ID:
- C5774299
- •
- Disease or Syndrome
Familial hyperinsulinemic hypoglycemia-8 (HHF8) is an autosomal recessive disorder characterized by protein-related hypoglycemia and persistent mild hyperammonemia (summary by Shahroor et al., 2022).
For a phenotypic description and a discussion of genetic heterogeneity of familial hyperinsulinemic hypoglycemia, see HHF1 (256450).