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Juvenile myoclonic epilepsy
9 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Insulin-resistance syndrome type A
1 OMIM reference -
1 associated gene
9 signs/symptoms
Juvenile myoclonic epilepsy
Insulin-resistance syndrome type A

CACNB4
(UniProt - OMIM)
 INSR
(UniProt - OMIM)
CLCN2
(UniProt - OMIM)
EFHC1
(UniProt - OMIM)
GABRA1
(UniProt - OMIM)
GABRD
(UniProt - OMIM)
JRK
(UniProt - OMIM)
KCNQ3
(UniProt - OMIM)

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


Citations in the biomedical literature:


Juvenile myoclonic epilepsy
CACNB4 CLCN2 EFHC1 GABRA1 GABRD JRK
KCNQ3
Insulin-resistance syndrome type A
INSR



Juvenile myoclonic epilepsy
Insulin-resistance syndrome type A

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: adolescence / young
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:
9 OMIM references -
1 MeSH reference: D020190
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



Juvenile myoclonic epilepsy

(no data available)