ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Hereditary neuropathy with liability to pressure palsies

Distal myopathy with posterior leg and anterior hand involvement


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

Citations in the biomedical literature:

Hereditary neuropathy with liability to pressure palsies		Distal myopathy with posterior leg and anterior hand involvement
	Synonym(s): - Current pressure-sensitive neuropathy - HNPP - Heterozygous microdeletion 17p11.2p12 - Potato-grubbing palsy - Tomaculous neuropathy - Tulip-bulb digger's palsy		Synonym(s): - Distal ABD-filaminopathy

	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: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: no data available Type of inheritance: autosomal dominant

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

Hereditary neuropathy with liability to pressure palsies
	Very frequent - Autosomal dominant inheritance - Insterstitial / subtelomeric microdeletion / deletion - Nerve conduction abnormality - Peripheral neuropathy Frequent - Motor deficit / trouble - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Scoliosis Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Areflexia / hyporeflexia - Cranial nerves palsy - Flat palm - Pes cavus - Respiratory distress / dyspnea / respiratory failure / lung volume reduction
Distal myopathy with posterior leg and anterior hand involvement
(no data available)