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Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
2 OMIM references -
1 associated gene
13 connected diseases
No signs/symptoms info
Disease Type of connection
Chronic mucocutaneous candidiasis
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Well-differentiated liposarcoma
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- HADH deficiency
- Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Hyperinsulinism due to HADH deficiency
- Hyperinsulinism due to SCHAD deficiency
- Hyperinsulinism due to glutamodehydrogenase deficiency
- SCHAD deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
HADH Q16836601609
No signs/symptoms info available.