ODCs

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1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

5 OMIM references -
2 associated genes
8 signs/symptoms

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Benign adult familial myoclonic epilepsy

HDAC6	(UniProt - OMIM)		ADRA2B	(UniProt - OMIM)
			CNTN2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HDAC6	(0.63)	CNTN2

Citations in the biomedical literature:

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Benign adult familial myoclonic epilepsy
	Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia		Synonym(s): - ADCME - Autosomal dominant cortical myoclonus and epilepsy - BAFME - FAME - FCMTE - Familial adult myoclonic epilepsy - Familial cortical myoclonic tremor and epilepsy

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

	Classification (ICD10): (no data available)		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: x-linked dominant		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: elderly Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Benign adult familial myoclonic epilepsy
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flattened nose - Frontal bossing / prominent forehead - Hydrocephaly - Low set ears / posteriorly rotated ears - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Rhizomelic micromelia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - X-linked dominant inheritance Frequent - Ankle anomalies - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Death in infancy - Intrauterine growth retardation - Rib structure anomalies Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Short philtrum		Very frequent - Autosomal dominant inheritance - EEG anomalies - Myoclonus / fasciculations - Tremor Frequent - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Facial pain / cephalalgia / migraine - Transient amaurosis / acute visual trouble