HMN5A
MCID: NRN037
MIFTS: 28

Neuronopathy, Distal Hereditary Motor, Type Va (HMN5A)

Categories: Genetic diseases, Muscle diseases, Neuronal 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 58
Neuronopathy, Distal Hereditary Motor, Type V 58 74
Dhmn Va 58 76
Hmn Va 58 76
Dhmn5a 58 76
Dsmava 58 76
Hmn5a 58 76
Dsmav 58 76
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 58
Spinal Muscular Atrophy Distal with Upper Limb Predominance 76
Neuropathy, Distal Hereditary Motor, Type Va; Dhmn5a 58
Neuronopathy, Distal Hereditary Motor, Type V; Hmn5 58
Spinal Muscular Atrophy, Distal, Type Va; Dsmava 58
Spinal Muscular Atrophy, Distal, Type V; Dsmav 58
Neuropathy, Motor, Distal, Hereditary, Type Va 41
Neuropathy, Distal Hereditary Motor, Type Va 58
Distal Hereditary Motor Neuronopathy Type Va 76
Distal Hereditary Motor Neuropathy Type Va 76
Distal Hereditary Motor Neuropathy Type V 76
Neuronopathy, Distal Hereditary Motor, 5a 76
Spinal Muscular Atrophy, Distal, Type Va 58
Spinal Muscular Atrophy, Distal, Type V 58
Spinal Muscular Atrophy Distal Type Va 76
Spinal Muscular Atrophy Distal Type V 76
Dhmn V 76
Dsma-V 76
Hmn V 76
Dhmn5 76
Hmn5 58

Characteristics:

OMIM:

58
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:

33
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 : 76 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 BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin). Affiliated tissues include spinal cord, and related phenotypes are hyperreflexia and pes planus

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

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

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 33 occasional (7.5%) HP:0001347
2 pes planus 33 occasional (7.5%) HP:0001763
3 pes cavus 33 occasional (7.5%) HP:0001761
4 hammertoe 33 occasional (7.5%) HP:0001765
5 peripheral neuropathy 33 HP:0009830
6 upper limb muscle weakness 33 HP:0003484
7 thenar muscle atrophy 33 HP:0003393
8 first dorsal interossei muscle weakness 33 HP:0003392
9 first dorsal interossei muscle atrophy 33 HP:0003426
10 thenar muscle weakness 33 HP:0003427
11 distal muscle weakness 33 HP:0002460
12 distal amyotrophy 33 HP:0003693
13 cold-induced hand cramps 33 HP:0003435

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
thenar muscle atrophy
first dorsal interossei muscle weakness
first dorsal interossei muscle atrophy
thenar muscle weakness
cold-induced hand cramps
more
Skeletal Feet:
pes cavus in some
pes planus in some
hammertoes in some

Clinical features from OMIM:

600794

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:

42
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Va

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

# Title Authors Year
1
A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V. ( 30083128 )
2018
2
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. ( 22703882 )
2012
3
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. ( 23279345 )
2012
4
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. ( 20598714 )
2010
5
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:

76
# 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 rs106050283

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

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2; HNRNPUL2-BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh37 Chromosome 11, 62469971: 62469971
2 BSCL2; HNRNPUL2-BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh38 Chromosome 11, 62702499: 62702499
3 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh37 Chromosome 11, 62469965: 62469965
4 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh38 Chromosome 11, 62702493: 62702493
5 GARS NM_002047.3(GARS): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs137852644 GRCh37 Chromosome 7, 30640795: 30640795
6 GARS NM_002047.3(GARS): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs137852644 GRCh38 Chromosome 7, 30601179: 30601179
7 GARS NM_002047.3(GARS): c.374A> G (p.Glu125Gly) single nucleotide variant Pathogenic rs137852645 GRCh37 Chromosome 7, 30639612: 30639612
8 GARS NM_002047.3(GARS): c.374A> G (p.Glu125Gly) single nucleotide variant Pathogenic rs137852645 GRCh38 Chromosome 7, 30599996: 30599996
9 GARS NM_002047.3(GARS): c.1738G> C (p.Gly580Arg) single nucleotide variant Pathogenic rs137852646 GRCh37 Chromosome 7, 30668214: 30668214
10 GARS NM_002047.3(GARS): c.1738G> C (p.Gly580Arg) single nucleotide variant Pathogenic rs137852646 GRCh38 Chromosome 7, 30628598: 30628598
11 GARS NM_002047.3(GARS): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs137852647 GRCh37 Chromosome 7, 30665896: 30665896
12 GARS NM_002047.3(GARS): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs137852647 GRCh38 Chromosome 7, 30626280: 30626280
13 GARS NM_002047.3(GARS): c.222+5C> T single nucleotide variant Benign rs2072236 GRCh37 Chromosome 7, 30634764: 30634764
14 GARS NM_002047.3(GARS): c.222+5C> T single nucleotide variant Benign rs2072236 GRCh38 Chromosome 7, 30595148: 30595148
15 GARS NM_002047.3(GARS): c.93G> C (p.Leu31=) single nucleotide variant Benign rs2529438 GRCh37 Chromosome 7, 30634630: 30634630
16 GARS NM_002047.3(GARS): c.93G> C (p.Leu31=) single nucleotide variant Benign rs2529438 GRCh38 Chromosome 7, 30595014: 30595014
17 GARS NM_002047.3(GARS): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh38 Chromosome 7, 30612212: 30612212
18 GARS NM_002047.3(GARS): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh37 Chromosome 7, 30651828: 30651828
19 GARS NM_002047.3(GARS): c.2042C> T (p.Pro681Leu) single nucleotide variant Uncertain significance rs879254346 GRCh37 Chromosome 7, 30672001: 30672001
20 GARS NM_002047.3(GARS): c.2042C> T (p.Pro681Leu) single nucleotide variant Uncertain significance rs879254346 GRCh38 Chromosome 7, 30632385: 30632385
21 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh37 Chromosome 7, 30634661: 30634661
22 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh38 Chromosome 7, 30595045: 30595045
23 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh38 Chromosome 7, 30633729: 30633729
24 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh37 Chromosome 7, 30673345: 30673345
25 GARS NM_002047.3(GARS): c.1186G> A (p.Val396Ile) single nucleotide variant Uncertain significance rs1060502836 GRCh38 Chromosome 7, 30616050: 30616050
26 GARS NM_002047.3(GARS): c.1186G> A (p.Val396Ile) single nucleotide variant Uncertain significance rs1060502836 GRCh37 Chromosome 7, 30655666: 30655666
27 GARS NM_002047.3(GARS): c.1415A> G (p.His472Arg) single nucleotide variant Pathogenic rs1060502838 GRCh38 Chromosome 7, 30621448: 30621448
28 GARS NM_002047.3(GARS): c.1415A> G (p.His472Arg) single nucleotide variant Pathogenic rs1060502838 GRCh37 Chromosome 7, 30661064: 30661064
29 GARS NM_002047.3(GARS): c.262C> G (p.Gln88Glu) single nucleotide variant Uncertain significance rs201728920 GRCh37 Chromosome 7, 30638451: 30638451
30 GARS NM_002047.3(GARS): c.262C> G (p.Gln88Glu) single nucleotide variant Uncertain significance rs201728920 GRCh38 Chromosome 7, 30598835: 30598835
31 GARS NM_002047.3(GARS): c.-45C> G single nucleotide variant not provided rs903029869 GRCh37 Chromosome 7, 30634493: 30634493
32 GARS NM_002047.3(GARS): c.-45C> G single nucleotide variant not provided rs903029869 GRCh38 Chromosome 7, 30594877: 30594877
33 BSCL2 NM_032667.6(BSCL2): c.1106C> T (p.Ala369Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 62690458: 62690458
34 BSCL2 NM_032667.6(BSCL2): c.1106C> T (p.Ala369Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 62457930: 62457930

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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