ODCs

Cytoscape Web

Click node...

Monomelic amyotrophy

1 OMIM reference -
2 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1

Isolated brachycephaly

2 OMIM references -
3 associated genes
12 signs/symptoms

Monomelic amyotrophy

Isolated brachycephaly

C5ORF42	(UniProt - OMIM)		FGFR3	(UniProt - OMIM)
KIAA1377	(UniProt - OMIM)		TCF12	(UniProt - OMIM)
			TWIST1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIAA1377	(0.63)	FGFR3

Citations in the biomedical literature:

Monomelic amyotrophy		Isolated brachycephaly
	Synonym(s): - Benign focal amyotrophy - Hirayama disease - JMADUE - Juvenile muscular atrophy of distal upper extremity - Juvenile muscular atrophy of the distal upper limb		Synonym(s): - Non-syndromic bicornal synostosis

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: unknown		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538253		External references: 2 OMIM references - No MeSH references

Monomelic amyotrophy		Isolated brachycephaly
	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 - Autosomal recessive inheritance - Nerve conduction abnormality Occasional - Anomalies of the immunitary system - Movement disorder - Myoclonus / fasciculations - Tremor		Very frequent - Brachycephaly / flat occiput - Broad forehead Frequent - Cranial hypertension - Flat supraorbital ridge - Hearing loss / hypoacusia / deafness - Proptosis / exophthalmos Occasional - Autosomal dominant inheritance - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Short hand / brachydactyly