ODCs

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1 OMIM reference -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Roussy-LÃ©vy syndrome

Spondylocarpotarsal synostosis

MPZ	(UniProt - OMIM)		FLNB	(UniProt - OMIM)
PMP22	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PMP22	(0.63)	FLNB

Citations in the biomedical literature:

Roussy-LÃ©vy syndrome		Spondylocarpotarsal synostosis
	Synonym(s): - Hereditary areflexic dystasia, Roussy-LÃ©vy type		Synonym(s): - Synspondylism

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

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

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

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


COMMON SIGNS	- Autosomal recessive inheritance

Roussy-LÃ©vy syndrome		Spondylocarpotarsal synostosis
	Very frequent - Abnormal gait - Areflexia / hyporeflexia - Movement disorder - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Nerve conduction abnormality		Very frequent - Abnormal vertebral size / shape - Carpal bones fusion / synostosis - Lordosis - Restricted joint mobility / joint stiffness / ankylosis - Short rib cage / thorax - Vertebral segmentation anomaly / hemivertebrae Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Pectus excavatum - Polycystic kidneys - Sensorineural deafness / hearing loss