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1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
4 OMIM references -
4 associated genes
9 signs/symptoms
Hereditary neuropathy with liability to pressure palsies
Familial or sporadic hemiplegic migraine

PMP22 ATP1A2
CACNA1A
PRRT2
SCN1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PMP22
(0.63)
ATP1A2



Citations in the biomedical literature:


Hereditary neuropathy with liability to pressure palsies
PMP22
Familial or sporadic hemiplegic migraine
ATP1A2 CACNA1A PRRT2 SCN1A



Hereditary neuropathy with liability to pressure palsies
Familial or sporadic hemiplegic migraine

Synonym(s):
- Current pressure-sensitive neuropathy
- HNPP
- Heterozygous microdeletion 17p11.2p12
- Potato-grubbing palsy
- Tomaculous neuropathy
- Tulip-bulb digger's palsy

Synonym(s):
(no synonyms)

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: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary neuropathy with liability to pressure palsies
Familial or sporadic hemiplegic migraine

Very frequent
- 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
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Movement disorder

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Nystagmus

Occasional
- EEG anomalies
- Retinitis pigmentosa / retinal pigmentary changes
- Sensorineural deafness / hearing loss
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia