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8 OMIM references -
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Generalized epilepsy with febrile seizures-plus context
Insulin-resistance syndrome type A

GABRD INSR
GABRG2
SCN1A
SCN1B
SCN2A
SCN9A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GABRD
(0.63)
INSR



Citations in the biomedical literature:


Generalized epilepsy with febrile seizures-plus context
GABRD GABRG2 SCN1A SCN1B SCN2A SCN9A

Insulin-resistance syndrome type A
INSR



Generalized epilepsy with febrile seizures-plus context
Insulin-resistance syndrome type A

Synonym(s):
- GEFS+

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

Insulin-resistance syndrome type A

Very frequent
- Advanced bone age
- Autosomal recessive inheritance
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Hirsutism / hypertrichosis / Increased body hair
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Insulin-independent / type 2 diabetes
- Late puberty / hypogonadism / hypogenitalism
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Tall stature / gigantism / growth acceleration



Generalized epilepsy with febrile seizures-plus context

(no data available)