Neuropathy, hereditary, with liability to pressure palsies

Preferred Label : Neuropathy, hereditary, with liability to pressure palsies;

Symbol : HNPP;

CISMeF acronym : HNPP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tomaculous neuropathy; Polyneuropathy, familial recurrent;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gene encoding peripheral myelin protein-22 (PMP22, 601097.0004);

Prefixed ID : #162500;

Details

Origin ID

162500;

UMLS CUI

C0393814;

Automatic exact mappings (from CISMeF team)
- Hereditary neuropathy with liability to pressure palsies [ICD-11 More detail]
- PMP22 wt Allele [NCIt concept]
- peripheral myelin protein 22 [ORDO Gene]
- peripheral myelin protein 22 [HGNC gene]
Currated CISMeF NLP mapping
- Hereditary liability to pressure palsies (disorder) [SNOMED CT concept]
- Hereditary neuropathy with liability to pressure palsies [MedDRA Preferred Term]
- Hereditary neuropathy with liability to pressure palsies [ORDO Disease]
- Neuropathy, Recurrent, with Pressure Palsies [NCIt concept]
- Tomaculous neuropathy [PASCAL descriptor]
- Tomaculous neuropathy [MedDRA LLT]
- Tomaculous neuropathy [MeSH concept]
- hereditary neuropathy with liability to pressure palsies [DO Concept]
- hereditary neuropathy with liability to pressure palsies [Disease (Nov.)]
- tomaculous neuropathy [MeSH Supplementary Concept]
DO Cross reference
- hereditary neuropathy with liability to pressure palsies [DO Concept]
Genes related to phenotype
- Peripheral myelin protein 22 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Froment sign [HPO term]
- Hand muscle weakness [HPO term]
- Hand paresthesia [HPO term]
- Hypoesthesia [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Muscle weakness [HPO term]
- Peripheral neuropathy [HPO term]
- Segmental demyelination/remyelination on nerve biopsy [HPO term]
- Segmental peripheral demyelination/remyelination [HPO term]
- Vocal cord paralysis [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Hereditary neuropathy with liability to pressure palsies [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary liability to pressure palsies (disorder) [SNOMED CT concept]
- Hereditary neuropathy with liability to pressure palsies [MedDRA Preferred Term]
- Hereditary neuropathy with liability to pressure palsies [ORDO Disease]
- Tomaculous neuropathy [MedDRA LLT]
- Tomaculous neuropathy [MeSH concept]
- hereditary neuropathy with liability to pressure palsies [DO Concept]
- hereditary neuropathy with liability to pressure palsies [Disease (Nov.)]
- tomaculous neuropathy [MeSH Supplementary Concept]

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