Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
13 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hereditary neuropathy with liability to pressure palsies
Acute inflammatory demyelinating polyradiculoneuropathy

PMP22 PMP22


COMMON
GENES
PMP22



Citations in the biomedical literature:


Hereditary neuropathy with liability to pressure palsies
PMP22
Acute inflammatory demyelinating polyradiculoneuropathy



Hereditary neuropathy with liability to pressure palsies
Acute inflammatory demyelinating polyradiculoneuropathy

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

Synonym(s):
- AIDP
- Acute idiopathic demyelinating polyneuropathy
- Acute inflammatory polyneuropathy
- GBS, acute inflammatory demyelinating polyradiculoneuropathic form
- Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- 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: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: multigenic/multifactorial

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


Acute inflammatory demyelinating polyradiculoneuropathy

(no data available)