HMN9
MCID: NRN042
MIFTS: 13

Neuronopathy, Distal Hereditary Motor, Type Ix (HMN9)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuronopathy, Distal Hereditary Motor, Type Ix

MalaCards integrated aliases for Neuronopathy, Distal Hereditary Motor, Type Ix:

Name: Neuronopathy, Distal Hereditary Motor, Type Ix 57 75 6
Neuropathy, Distal Hereditary Motor, Type Ix 57 75
Dhmn9 57 75
Hmn9 57 75
Neuropathy, Distal Hereditary Motor, Type Ix; Dhmn9 57
Neuronopathy, Distal Hereditary Motor, 9 75

Classifications:



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OMIM 57 617721
MedGen 42 CN547335
MeSH 44 D009134

Summaries for Neuronopathy, Distal Hereditary Motor, Type Ix

OMIM : 57 HMN9 is an autosomal dominant neurologic disorder characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs (summary by Tsai et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; 182960). (617721)

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Ix, is also known as neuropathy, distal hereditary motor, type ix. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Ix is WARS (Tryptophanyl-TRNA Synthetase).

UniProtKB/Swiss-Prot : 75 Neuronopathy, distal hereditary motor, 9: An autosomal dominant neurologic disorder characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs.

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Ix

Symptoms & Phenotypes for Neuronopathy, Distal Hereditary Motor, Type Ix

Clinical features from OMIM:

617721

Drugs & Therapeutics for Neuronopathy, Distal Hereditary Motor, Type Ix

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Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Ix

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Ix

Publications for Neuronopathy, Distal Hereditary Motor, Type Ix

Variations for Neuronopathy, Distal Hereditary Motor, Type Ix

UniProtKB/Swiss-Prot genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Ix:

75
# Symbol AA change Variation ID SNP ID
1 WARS p.His257Arg VAR_080407

ClinVar genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Ix:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WARS NM_173701.1(WARS): c.770A> G (p.His257Arg) single nucleotide variant Pathogenic rs770003315 GRCh38 Chromosome 14, 100346802: 100346802
2 WARS NM_173701.1(WARS): c.770A> G (p.His257Arg) single nucleotide variant Pathogenic rs770003315 GRCh37 Chromosome 14, 100813139: 100813139

Expression for Neuronopathy, Distal Hereditary Motor, Type Ix

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Pathways for Neuronopathy, Distal Hereditary Motor, Type Ix

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Ix

Sources for Neuronopathy, Distal Hereditary Motor, Type Ix

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