ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
2 associated genes
13 signs/symptoms

Amelo-cerebro-hypohidrotic syndrome

Monomelic amyotrophy

ROGDI	(UniProt - OMIM)		C5ORF42	(UniProt - OMIM)
			KIAA1377	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ROGDI	(0.63)	KIAA1377

Citations in the biomedical literature:

Amelo-cerebro-hypohidrotic syndrome		Monomelic amyotrophy
	Synonym(s): - Epilepsy - dementia - amelogenesis imperfecta - Kohlschutter-Tonz syndrome		Synonym(s): - Benign focal amyotrophy - Hirayama disease - JMADUE - Juvenile muscular atrophy of distal upper extremity - Juvenile muscular atrophy of the distal upper limb

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease		Classification (Orphanet): (no data available)

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: unknown

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538253


COMMON SIGNS	- Autosomal recessive inheritance

Amelo-cerebro-hypohidrotic syndrome		Monomelic amyotrophy
	Very frequent - Dental staining anomaly / spotted teeth / erythrodontia - EEG anomalies - Enamel anomaly - Hypertonia / spasticity / rigidity / stiffness - Psychic / psychomotor regression / dementia / intellectual decline - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance Occasional - Hydrocephaly - Short stature / dwarfism / nanism		Very frequent - Abnormal EMG / electromyogram / electropmyography - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Upper limb asymmetry / hemiatrophy / hemihypertrophy - Upper limb segmental anomalies Frequent - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of spine, vertebrae and pelvis - Nerve conduction abnormality Occasional - Anomalies of the immunitary system - Movement disorder - Myoclonus / fasciculations - Tremor