Neuromyotonia and axonal neuropathy, autosomal recessive

Preferred Label : Neuromyotonia and axonal neuropathy, autosomal recessive;

Symbol : NMAN;

CISMeF acronym : NMAN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gamstorp-wohlfart syndrome; Myokymia, myotonia, and muscle wasting;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the histidine triad nucleotide-binding protein 1 gene (HINT1, 601314.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #137200;

Details

Origin ID

137200;

UMLS CUI

C5700127;

CISMeF manual mappings
- Autosomal recessive axonal neuropathy with neuromyotonia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Autosomal recessive axonal neuropathy with neuromyotonia [ORDO Disease]
- Gamstorp-Wohlfart syndrome [DO Concept]
- Neuromyotonia (disorder) [SNOMED CT concept]
DO Cross reference
- Gamstorp-Wohlfart syndrome [DO Concept]
False automatic mappings
- isaacs syndrome [MeSH Descriptor]
- isaacs syndrome [MeSH concept]
Genes related to phenotype
- Histidine triad nucleotide-binding protein 1 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Distal sensory impairment [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Fasciculations [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hyperhidrosis [HPO term]
- Muscle spasm [HPO term]
- Muscle stiffness [HPO term]
- Myokymia [HPO term]
- Myotonia [HPO term]
- Progressive [HPO term]
- Sensory axonal neuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Autosomal recessive axonal neuropathy with neuromyotonia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive axonal neuropathy with neuromyotonia [ORDO Disease]
- Autosomal recessive axonal neuropathy with neuromyotonia (disorder) [SNOMED CT concept]
- Gamstorp-Wohlfart syndrome [DO Concept]
- Isaac's syndrome [MedDRA LLT]
- Isaacs syndrome [MedDRA LLT]
- Isaacs syndrome [ORDO Disease]
- Isaacs syndrome (disorder) [SNOMED CT concept]
- Neuromyotonia [MedDRA Preferred Term]
- Neuromyotonia (disorder) [SNOMED CT concept]
- isaacs syndrome [SNOMED Notion]
- isaacs syndrome [MeSH Descriptor]
- isaacs syndrome [MeSH concept]
- neuromyotonia [Disease (Nov.)]
Validated automatic mappings to NTBT
- neuromyotonia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients