Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Hyperinsulinism due to glutamodehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to HADH deficiency
Hyperinsulinism due to short-chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Number of Symptoms 15
OrphanetNr: 71212
OMIM Id: 231530
609975
ICD-10: E71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 3-hydroxyacyl-CoA dehydrogenase deficiency
 -Rare genetic disease
Diazoxide-sensitive diffuse hyperinsulinism
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
Energy metabolism disorder with epilepsy
 -Rare neurologic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003215) Dicarboxylic aciduria 7 / 7739
2
 (HPO:0002913) Myoglobinuria 22 / 7739
3
 (HPO:0006929) Hypoglycemic encephalopathy 2 / 7739
4
 (HPO:0002173) Hypoglycemic seizures 19 / 7739
5
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
6
 (HPO:0004448) Fulminant hepatic failure 4 / 7739
7
 (HPO:0002605) Hepatic necrosis 6 / 7739
8
 (HPO:0001397) Hepatic steatosis 75 / 7739
9
 (HPO:0001510) Growth delay 295 / 7739
10
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
11
 (HPO:0001644) Dilated cardiomyopathy 141 / 7739
12
 (HPO:0001985) Hypoketotic hypoglycemia 11 / 7739
13
 (HPO:0001252) Muscular hypotonia 990 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: