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1 OMIM reference -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Permanent neonatal diabetes mellitus
Fatal infantile hypertonic myofibrillar myopathy

ABCC8 CRYAB
GCK
INS
KCNJ11
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
INS
(0.49)
CRYAB



Citations in the biomedical literature:


Permanent neonatal diabetes mellitus
ABCC8 GCK INS KCNJ11 PDX1
Fatal infantile hypertonic myofibrillar myopathy
CRYAB



Permanent neonatal diabetes mellitus
Fatal infantile hypertonic myofibrillar myopathy

Synonym(s):
- PNDM

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Certain conditions originating in the perinatal period -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
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: before age 5
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.