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Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Cataract-microcornea syndrome
3 OMIM references -
8 associated genes
9 signs/symptoms
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Cataract-microcornea syndrome

ABCC8
(UniProt - OMIM)
 CRYAA
(UniProt - OMIM)
CRYBA4
(UniProt - OMIM)
CRYBB1
(UniProt - OMIM)
CRYBB2
(UniProt - OMIM)
CRYGC
(UniProt - OMIM)
CRYGD
(UniProt - OMIM)
GJA8
(UniProt - OMIM)
MAF
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ABCC8
(0.52)
CRYBB1


Citations in the biomedical literature:


Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
ABCC8
Cataract-microcornea syndrome
CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD
GJA8 MAF



Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Cataract-microcornea syndrome

Synonym(s):
- Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: C538287
Cataract-microcornea syndrome

Very frequent
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Cataract / lens opacification
- Microcornea

Frequent
- Myopia

Occasional
- Coloboma of iris
- Corneal clouding / opacity / vascularisation
- Corneal dystrophy
- Nystagmus


Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

(no data available)