MCID: NRN037
MIFTS: 28

Neuronopathy, Distal Hereditary Motor, Type Va

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

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

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

Name: Neuronopathy, Distal Hereditary Motor, Type Va 57
Neuronopathy, Distal Hereditary Motor, Type V 57 73
Dhmn Va 57 75
Hmn Va 57 75
Dhmn5a 57 75
Dsmava 57 75
Hmn5a 57 75
Dsmav 57 75
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 57
Spinal Muscular Atrophy Distal with Upper Limb Predominance 75
Neuropathy, Distal Hereditary Motor, Type Va; Dhmn5a 57
Neuronopathy, Distal Hereditary Motor, Type V; Hmn5 57
Spinal Muscular Atrophy, Distal, Type Va; Dsmava 57
Spinal Muscular Atrophy, Distal, Type V; Dsmav 57
Neuropathy, Motor, Distal, Hereditary, Type Va 40
Neuropathy, Distal Hereditary Motor, Type Va 57
Distal Hereditary Motor Neuronopathy Type Va 75
Distal Hereditary Motor Neuropathy Type Va 75
Distal Hereditary Motor Neuropathy Type V 75
Neuronopathy, Distal Hereditary Motor, 5a 75
Spinal Muscular Atrophy, Distal, Type Va 57
Spinal Muscular Atrophy, Distal, Type V 57
Spinal Muscular Atrophy Distal Type Va 75
Spinal Muscular Atrophy Distal Type V 75
Dhmn V 75
Dsma-V 75
Hmn V 75
Dhmn5 75
Hmn5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slow disease progression
mean age of onset 18 years
allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, ), but distinguished by less severe distal sensory involvement
allelic disorder to silver syndrome , but distinguished by lack of spasticity


HPO:

32
neuronopathy, distal hereditary motor, type va:
Onset and clinical course slow progression onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neuronopathy, Distal Hereditary Motor, Type Va

UniProtKB/Swiss-Prot : 75 Neuronopathy, distal hereditary motor, 5A: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Va, also known as neuronopathy, distal hereditary motor, type v, is related to distal hereditary motor neuropathy, type v and charcot-marie-tooth disease. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Va is GARS (Glycyl-TRNA Synthetase). Affiliated tissues include spinal cord, and related phenotypes are hyperreflexia and pes cavus

Description from OMIM: 600794

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Va

Graphical network of the top 20 diseases related to Neuronopathy, Distal Hereditary Motor, Type Va:



Diseases related to Neuronopathy, Distal Hereditary Motor, Type Va

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
thenar muscle atrophy
first dorsal interossei muscle weakness
first dorsal interossei muscle atrophy
thenar muscle weakness
distal limb muscle weakness due to peripheral neuropathy
more
Skeletal Feet:
pes cavus in some
pes planus in some
hammertoes in some


Clinical features from OMIM:

600794

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 32 occasional (7.5%) HP:0001347
2 pes cavus 32 occasional (7.5%) HP:0001761
3 pes planus 32 occasional (7.5%) HP:0001763
4 hammertoe 32 occasional (7.5%) HP:0001765
5 distal muscle weakness 32 HP:0002460
6 first dorsal interossei muscle weakness 32 HP:0003392
7 thenar muscle atrophy 32 HP:0003393
8 first dorsal interossei muscle atrophy 32 HP:0003426
9 thenar muscle weakness 32 HP:0003427
10 cold-induced hand cramps 32 HP:0003435
11 upper limb muscle weakness 32 HP:0003484
12 distal amyotrophy 32 HP:0003693

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

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

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Va

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Va

MalaCards organs/tissues related to Neuronopathy, Distal Hereditary Motor, Type Va:

41
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Va

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

# Title Authors Year
1
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. ( 22703882 )
2012
2
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. ( 23279345 )
2012
3
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. ( 20598714 )
2010
4
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. ( 16769947 )
2006

Variations for Neuronopathy, Distal Hereditary Motor, Type Va

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

75
# Symbol AA change Variation ID SNP ID
1 BSCL2 p.Asn88Ser VAR_022375 rs137852972
2 BSCL2 p.Ser90Leu VAR_022376 rs137852973
3 GARS p.Leu183Pro VAR_018719 rs137852644
4 GARS p.Gly580Arg VAR_018721 rs137852646
5 GARS p.Asp200Asn VAR_073188
6 GARS p.Ser265Phe VAR_073189
7 GARS p.His472Arg VAR_073192

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

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh37 Chromosome 11, 62469971: 62469971
2 BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh38 Chromosome 11, 62702499: 62702499
3 GARS NM_002047.3(GARS): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs137852644 GRCh37 Chromosome 7, 30640795: 30640795
4 GARS NM_002047.3(GARS): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs137852644 GRCh38 Chromosome 7, 30601179: 30601179
5 GARS NM_002047.3(GARS): c.374A> G (p.Glu125Gly) single nucleotide variant Pathogenic rs137852645 GRCh37 Chromosome 7, 30639612: 30639612
6 GARS NM_002047.3(GARS): c.374A> G (p.Glu125Gly) single nucleotide variant Pathogenic rs137852645 GRCh38 Chromosome 7, 30599996: 30599996
7 GARS NM_002047.3(GARS): c.1738G> C (p.Gly580Arg) single nucleotide variant Pathogenic rs137852646 GRCh37 Chromosome 7, 30668214: 30668214
8 GARS NM_002047.3(GARS): c.1738G> C (p.Gly580Arg) single nucleotide variant Pathogenic rs137852646 GRCh38 Chromosome 7, 30628598: 30628598
9 GARS NM_002047.3(GARS): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs137852647 GRCh37 Chromosome 7, 30665896: 30665896
10 GARS NM_002047.3(GARS): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs137852647 GRCh38 Chromosome 7, 30626280: 30626280
11 GARS NM_002047.3(GARS): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh38 Chromosome 7, 30612212: 30612212
12 GARS NM_002047.3(GARS): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh37 Chromosome 7, 30651828: 30651828
13 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh37 Chromosome 7, 30634661: 30634661
14 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh38 Chromosome 7, 30595045: 30595045
15 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh38 Chromosome 7, 30633729: 30633729
16 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh37 Chromosome 7, 30673345: 30673345
17 GARS NM_002047.3(GARS): c.-45C> G single nucleotide variant not provided rs903029869 GRCh37 Chromosome 7, 30634493: 30634493
18 GARS NM_002047.3(GARS): c.-45C> G single nucleotide variant not provided rs903029869 GRCh38 Chromosome 7, 30594877: 30594877

Expression for Neuronopathy, Distal Hereditary Motor, Type Va

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

Pathways for Neuronopathy, Distal Hereditary Motor, Type Va

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Va

Sources for Neuronopathy, Distal Hereditary Motor, Type Va

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