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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
MODY syndrome
Dehydratase deficiency

ABCC8 PCBD1
BLK
CEL
GCK
HNF1A
HNF4A
INS
KCNJ11
KLF11
NEUROD1
PAX4
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HNF1A
HNF4A
(0.9)
(0.63)
PCBD1
PCBD1



Citations in the biomedical literature:


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

Dehydratase deficiency
PCBD1



MODY syndrome
Dehydratase deficiency

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

Synonym(s):
- Hyperphenylalaninemia due to dehydratase deficiency
- Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency

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

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

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: normal
Type of inheritance: autosomal recessive

External references:
11 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.