HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4

General Information (adopted from Orphanet):

Synonyms, Signs: HHF4
Number of Symptoms 9
OrphanetNr:
OMIM Id: 609975
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002173) Hypoglycemic seizures 19 / 7739
2
(HPO:0001325) Hypoglycemic coma 9 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0000825) Hyperinsulinemic hypoglycemia 18 / 7739
5
(HPO:0000842) Hyperinsulinemia 39 / 7739
6
(HPO:0001943) Hypoglycemia 131 / 7739
7
(OMIM) Mental retardation due to repeated episodes of hypoglycemia 6 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Elevated blood spot hydroxybutyryl carnitine 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gotlin and Silver (1970) reported a male infant who had profound hypoglycemia at birth, with abnormally high insulin/glucose ratios. Attempts to control his hypoglycemia with conventional dietary and drug management were only partially successful. At 10 months of ...
Molecular genetics OMIM In a 4-month-old Indian girl with hyperinsulinemic hypoglycemia, Clayton et al. (2001) identified homozygosity for a mutation in the HADH gene (601609.0003); her apparently nonconsanguineous parents were heterozygous for the mutation.

In 4 sibs with hyperinsulinemic ...