Neuronopathy, distal hereditary motor, autosomal dominant 8

Preferred Label : Neuronopathy, distal hereditary motor, autosomal dominant 8;

Symbol : HMND8;

CISMeF acronym : DHMN8; HMN8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinal muscular atrophy, congenital benign, with contractures; Neuropathy, distal hereditary motor, type VIII; Spinal muscular atrophy, distal, congenital nonprogressive; DHMN8; Neuronopathy, distal hereditary motor, type VIII; HMN8;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0008);

Prefixed ID : #600175;

Details

Origin ID

600175;

UMLS CUI

C1838492;

Currated CISMeF NLP mapping
- Autosomal dominant benign distal spinal muscular atrophy [ICD-11 More detail]
- Autosomal dominant congenital benign spinal muscular atrophy [ORDO Disease]
- Autosomal dominant congenital benign spinal muscular atrophy (disorder) [SNOMED CT concept]
- distal hereditary motor neuronopathy type 8 [DO Concept]
- spinal muscular atrophy, distal, congenital nonprogressive [MeSH concept]
- spinal muscular atrophy, distal, congenital nonprogressive [MeSH Supplementary Concept]
DO Cross reference
- distal hereditary motor neuronopathy type 8 [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily V, member 4 [OMIM gene]
HPO term(s)
- Amyotrophy of the thigh musculature [HPO term]
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased fetal movement [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hip contracture [HPO term]
- Hyperlordosis [HPO term]
- Hyporeflexia [HPO term]
- Incomplete penetrance [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Kyphosis [HPO term]
- Nonprogressive [HPO term]
- Nonprogressive muscular atrophy [HPO term]
- Pes planus [HPO term]
- Proximal lower limb amyotrophy [HPO term]
- Scoliosis [HPO term]
- Spinal muscular atrophy [HPO term]
- Talipes equinovarus [HPO term]
- Variable expressivity [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Autosomal dominant congenital benign spinal muscular atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant congenital benign spinal muscular atrophy (disorder) [SNOMED CT concept]
- spinal muscular atrophy, distal, congenital nonprogressive [MeSH Supplementary Concept]
- spinal muscular atrophy, distal, congenital nonprogressive [MeSH concept]

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