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Hyperinsulinism due to HNF1A deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
3 OMIM references -
3 associated genes
No signs/symptoms info
Hyperinsulinism due to HNF1A deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

HNF1A
(UniProt - OMIM)
 HNRNPA1
(UniProt - OMIM)
HNRNPA2B1
(UniProt - OMIM)
VCP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HNF1A
(0.63)
VCP


Citations in the biomedical literature:


Hyperinsulinism due to HNF1A deficiency
HNF1A
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP



Hyperinsulinism due to HNF1A deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Synonym(s):
- Hyperinsulinemic hypoglycemia due to HNF1A deficiency
Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.