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Hypochondroplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1

Monomelic amyotrophy

1 OMIM reference -
2 associated genes
13 signs/symptoms

Hypochondroplasia

Monomelic amyotrophy

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


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

Citations in the biomedical literature:

Hypochondroplasia		Monomelic amyotrophy
	Synonym(s): (no synonyms)		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 bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): (no data available)

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		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

Hypochondroplasia		Monomelic amyotrophy
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Elbow anomalies(excluding luxation) - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Genu varum - Hyperextensible joints / articular hyperlaxity - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality Occasional - Apnea / sleep apnea - Bowed diaphysis / diaphyses / long bones - Intellectual deficit / mental / psychomotor retardation / learning disability - Lordosis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteoarthritis - Rachidian / spine canal stenosis - Scoliosis		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