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1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
Hereditary neuropathy with liability to pressure palsies
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

PMP22 MPZ


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
PMP22
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
MPZ



Hereditary neuropathy with liability to pressure palsies
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

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 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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


Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

(no data available)