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Juvenile myoclonic epilepsy
9 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Rabson-Mendenhall syndrome
1 OMIM reference -
1 associated gene
27 signs/symptoms
Juvenile myoclonic epilepsy
Rabson-Mendenhall syndrome

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
Rabson-Mendenhall syndrome
INSR



Juvenile myoclonic epilepsy
Rabson-Mendenhall syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
9 OMIM references -
1 MeSH reference: D020190
External references:
1 OMIM reference -
1 MeSH reference: D056731
Rabson-Mendenhall syndrome

Very frequent
- Acanthosis nigricans
- Acromegaly
- Anomalies of teeth and dentition
- Anomalies of the abdominal wall
- Autosomal dominant inheritance
- Coarse face
- Diabetes mellitus
- Dysplastic / thick / grooved fingernails
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hirsutism / hypertrichosis / Increased body hair
- Intrauterine growth retardation
- Lanugo
- Macropenis / megapenis / large penis
- Premature eruption of teeth / natal teeth
- Prognathism / prognathia

Frequent
- Coarse / thick hair
- Dry / squaly skin / exfoliation
- Peripheral neuropathy
- Precocious puberty
- Premature ageing
- Proteinuria
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Thick skin / pachydermia / orange skin
- Thyroid anomalies

Occasional
- Abnormal / polycystic ovaries
- Megaureter / hydronephrosis / pyeloureteral junction syndrome


Juvenile myoclonic epilepsy

(no data available)