HMN9
MCID: NRN042
MIFTS: 20

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 72
Dhmn9 57 12 72
Hmn9 57 12 72
Neuronopathy, Distal Hereditary Motor, Type 9 29 6
Neuropathy, Distal Hereditary Motor, Type Ix 57 72
Neuropathy, Distal Hereditary Motor, Type Ix; Dhmn9 57
Distal Hereditary Motor Neuronopathy Type 9 12
Distal Hereditary Motor Neuropathy Type Ix 12
Neuronopathy, Distal Hereditary Motor, 9 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
juvenile onset (range 9 to 13 years)
lower limb involvement usually precedes upper limb involvement


HPO:

31
neuronopathy, distal hereditary motor, type ix:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0111212
OMIM® 57 617721
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) (Updated 20-May-2021)

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Ix, is also known as dhmn9. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Ix is WARS1 (Tryptophanyl-TRNA Synthetase 1). Related phenotypes are pes cavus and hyporeflexia

Disease Ontology : 12 An autosomal domiant distal hereditary motor neuronopathy characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has material basis in heterozygous mutation in WARS on 14q32.2.

UniProtKB/Swiss-Prot : 72 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.

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

Human phenotypes related to Neuronopathy, Distal Hereditary Motor, Type Ix:

31
# Description HPO Frequency HPO Source Accession
1 pes cavus 31 HP:0001761
2 hyporeflexia 31 HP:0001265
3 difficulty walking 31 HP:0002355
4 motor axonal neuropathy 31 HP:0007002

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
hyporeflexia
difficulty walking
motor axonal neuropathy
atrophy of the intrinsic hand muscles
muscle weakness, distal, upper and lower limbs, due to neuropathy
more

Clinical features from OMIM®:

617721 (Updated 20-May-2021)

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

Search Clinical Trials , NIH Clinical Center for Neuronopathy, Distal Hereditary Motor, Type Ix

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Ix

Genetic tests related to Neuronopathy, Distal Hereditary Motor, Type Ix:

# Genetic test Affiliating Genes
1 Neuronopathy, Distal Hereditary Motor, Type 9 29 WARS1

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Ix

Publications for Neuronopathy, Distal Hereditary Motor, Type Ix

Articles related to Neuronopathy, Distal Hereditary Motor, Type Ix:

# Title Authors PMID Year
1
A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family. 6 57
31321409 2019
2
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family. 6 57
31069783 2019
3
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. 57 6
28369220 2017

Variations for Neuronopathy, Distal Hereditary Motor, Type Ix

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WARS1 NM_004184.4(WARS1):c.770A>G (p.His257Arg) SNV Pathogenic 441278 rs770003315 GRCh37: 14:100813139-100813139
GRCh38: 14:100346802-100346802
2 WARS1 NM_004184.4(WARS1):c.941A>G (p.Asp314Gly) SNV Pathogenic 975157 GRCh37: 14:100808907-100808907
GRCh38: 14:100342570-100342570
3 WARS1 NM_004184.4(WARS1):c.413T>A (p.Phe138Tyr) SNV Pathogenic 932924 GRCh37: 14:100826900-100826900
GRCh38: 14:100360563-100360563

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

72
# Symbol AA change Variation ID SNP ID
1 WARS1 p.His257Arg VAR_080407

Expression for Neuronopathy, Distal Hereditary Motor, Type Ix

Search GEO for disease gene expression data for Neuronopathy, Distal Hereditary Motor, Type Ix.

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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