ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Hereditary neuropathy with liability to pressure palsies

Spondylocarpotarsal synostosis


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

Citations in the biomedical literature:

Hereditary neuropathy with liability to pressure palsies		Spondylocarpotarsal synostosis
	Synonym(s): - Current pressure-sensitive neuropathy - HNPP - Heterozygous microdeletion 17p11.2p12 - Potato-grubbing palsy - Tomaculous neuropathy - Tulip-bulb digger's palsy		Synonym(s): - Synspondylism

	Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: 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: 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

Hereditary neuropathy with liability to pressure palsies		Spondylocarpotarsal synostosis
	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		Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - 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