ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
2 associated genes
6 signs/symptoms

Hereditary neuropathy with liability to pressure palsies

Roussy-LÃ©vy syndrome

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PMP22	(0.94)	MPZ

Citations in the biomedical literature:

Hereditary neuropathy with liability to pressure palsies		Roussy-LÃ©vy syndrome
	Synonym(s): - Current pressure-sensitive neuropathy - HNPP - Heterozygous microdeletion 17p11.2p12 - Potato-grubbing palsy - Tomaculous neuropathy - Tulip-bulb digger's palsy		Synonym(s): - Hereditary areflexic dystasia, Roussy-LÃ©vy type

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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


COMMON SIGNS	- Areflexia / hyporeflexia - Nerve conduction abnormality

Hereditary neuropathy with liability to pressure palsies		Roussy-LÃ©vy syndrome
	Very frequent - Autosomal dominant inheritance - Insterstitial / subtelomeric microdeletion / deletion - Peripheral neuropathy Frequent - Motor deficit / trouble - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Scoliosis Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Cranial nerves palsy - Flat palm - Pes cavus - Respiratory distress / dyspnea / respiratory failure / lung volume reduction		Very frequent - Abnormal gait - Autosomal recessive inheritance - Movement disorder - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy