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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
8 associated genes
9 signs/symptoms
MODY syndrome
Cataract-microcornea syndrome

ABCC8 CRYAA
BLK CRYBA4
CEL CRYBB1
GCK CRYBB2
HNF1A CRYGC
HNF4A CRYGD
INS GJA8
KCNJ11 MAF
KLF11
NEUROD1
PAX4
PDX1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


MODY syndrome
ABCC8 BLK CEL GCK HNF1A HNF4A
INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1

Cataract-microcornea syndrome
CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD
GJA8 MAF



MODY syndrome
Cataract-microcornea syndrome

Synonym(s):
- Maturity-onset diabetes of the young

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: adulthood
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:
11 OMIM references -
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


MODY syndrome

(no data available)