Peripheral neuropathy, myopathy, hoarseness, and hearing loss

Preferred Label : Peripheral neuropathy, myopathy, hoarseness, and hearing loss;

Symbol : PNMHH;

CISMeF acronym : PNMHH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nonmuscle myosin heavy chain 14 gene (MYH14, 608568.0006);

Laboratory abnormalities : Mildly increased serum creatine kinase;

Prefixed ID : #614369;

Details

Origin ID

614369;

UMLS CUI

C3280556;

CISMeF manual mappings
- Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [ORDO Disease]
Genes related to phenotype
- Myosin, heavy chain 14, nonmuscle [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Hoarse voice [HPO term]
- Hyporeflexia [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Muscle weakness [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive [HPO term]
- Skeletal muscle atrophy [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients