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Hereditary neuropathy with liability to pressure palsies
1 OMIM reference -
1 associated gene
22 connected diseases
13 signs/symptoms
Disease Type of connection
Dejerine-Sottas syndrome
Roussy-Lévy syndrome
Acute inflammatory demyelinating polyradiculoneuropathy
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1E
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Charcot-Marie-Tooth disease type 1B
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Alternating hemiplegia of childhood
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Familial or sporadic hemiplegic migraine
Muscle filaminopathy
Spondylocarpotarsal synostosis
Synonym(s):
- Current pressure-sensitive neuropathy
- HNPP
- Heterozygous microdeletion 17p11.2p12
- Potato-grubbing palsy
- Tomaculous neuropathy
- Tulip-bulb digger's palsy
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PMP22 Q01453601097
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