Neuronopathy, distal hereditary motor, autosomal dominant 7

Preferred Label : Neuronopathy, distal hereditary motor, autosomal dominant 7;

Symbol : HMND7;

CISMeF acronym : DHMNVP; DHMN7A; HMN7A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinal muscular atrophy, distal, with vocal cord paralysis; DHMN7A; DHMNVP; Neuropathy, distal hereditary motor, harding type viia; Harper-young myopathy; Hmn viia; Neuronopathy, distal hereditary motor, harding type viia; HMN7A;

Description : Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by Barwick et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; 182960).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 5 (choline transporter), member 7 gene (SLC5A7, 608761.0001);

Prefixed ID : #158580;

Details

Origin ID

158580;

UMLS CUI

C1834703;

Automatic exact mappings (from CISMeF team)
- Distal hereditary motor neuropathy type 7 [ORDO Disease]
- distal hereditary motor neuronopathy type 7 [DO Concept]
- distal hereditary motor neuronopathy type 7A [DO Concept]
- distal hereditary motor neuronopathy type 7B [DO Concept]
Currated CISMeF NLP mapping
- neuropathy, distal hereditary motor, type VIIA [MeSH concept]
- neuropathy, distal hereditary motor, type VIIA [MeSH Supplementary Concept]
DO Cross reference
- distal hereditary motor neuronopathy type 7A [DO Concept]
Genes related to phenotype
- Solute carrier family 5 (choline transporter), member 7 [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Difficulty walking [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Hyporeflexia [HPO term]
- Onset [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Slowly progressive [HPO term]
- Tremor [HPO term]
- Vocal cord paralysis [HPO term]
- Vocal cord paresis [HPO term]
Not associated HPO term(s)
- Abnormal motor nerve conduction velocity [HPO term]
ORDO concept(s)
- Distal hereditary motor neuropathy type 7 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- neuropathy, distal hereditary motor, type VIIA [MeSH Supplementary Concept]
- neuropathy, distal hereditary motor, type VIIA [MeSH concept]
Validated automatic mappings to NTBT
- Distal hereditary motor neuropathy type 7 (disorder) [SNOMED CT concept]

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