HMN5A
MCID: NRN037
MIFTS: 35

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 57
Distal Hereditary Motor Neuronopathy Type 5 12 25 29 6
Dsmav 57 12 25 74
Distal Hereditary Motor Neuropathy Type V 12 59 74
Dhmn5 12 59 74
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 57 25
Neuronopathy, Distal Hereditary Motor, Type V 57 72
Distal Spinal Muscular Atrophy Type 5 12 59
Distal Hmn V 12 59
Dhmn Va 57 74
Hmn Va 57 74
Dhmn5a 57 74
Dsmava 57 74
Dhmn-V 25 55
Hmn5a 57 74
Hmn V 25 74
Hmn5 57 12
Distal Spinal Muscular Atrophy with Upper Limb Predominance 12
Spinal Muscular Atrophy Distal with Upper Limb Predominance 74
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 12
Neuropathy, Distal Hereditary Motor, Type Va; Dhmn5a 57
Young Adult-Onset Distal Hereditary Motor Neuropathy 12
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 5a 12
Distal Hereditary Motor Neuronopathy, Type V 25
Distal Hereditary Motor Neuronopathy Type Va 74
Neuropathy, Distal Hereditary Motor, Type V 13
Distal Hereditary Motor Neuropathy, Type V 25
Distal Hereditary Motor Neuropathy Type Va 74
Distal Hereditary Motor Neuropathy Type 5 59
Neuronopathy, Distal Hereditary Motor, 5a 74
Spinal Muscular Atrophy, Distal, Type Va 57
Spinal Muscular Atrophy, Distal, Type V 57
Distal Spinal Muscular Atrophy Type Va 12
Distal Spinal Muscular Atrophy, Type V 25
Spinal Muscular Atrophy, Distal Type V 25
Spinal Muscular Atrophy Distal Type Va 74
Distal Spinal Muscular Atrophy Type V 12
Spinal Muscular Atrophy Distal Type V 74
Young Adult-Onset Dhmn 12
Distal Hmn Va 12
Dhmn V 74
Dsma-V 74
Dsma5 12

Characteristics:

Orphanet epidemiological data:

59
distal hereditary motor neuropathy type 5
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

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:
Inheritance autosomal dominant inheritance
Onset and clinical course onset slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 600794
MeSH 44 D009134
ICD10 via Orphanet 34 G12.2
UMLS via Orphanet 73 C1833308
Orphanet 59 ORPHA139536
MedGen 42 C1833308
UMLS 72 C1833308

Summaries for Neuronopathy, Distal Hereditary Motor, Type Va

Genetics Home Reference : 25 Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet. Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-thirties. Cramps in the hand brought on by exposure to cold temperatures are often the initial symptom. The characteristic features of distal hereditary motor neuropathy, type V are weakness and wasting (atrophy) of muscles of the hand, specifically on the thumb side of the index finger and in the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus), are also common, and some affected individuals eventually develop problems with walking (gait disturbance). People with this disorder have normal life expectancies.

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Va, also known as distal hereditary motor neuronopathy type 5, is related to hereditary spastic paraplegia and spinal muscular atrophy, distal, autosomal recessive, 5. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Va is GARS1 (Glycyl-TRNA Synthetase 1). Affiliated tissues include spinal cord, and related phenotypes are upper limb muscle weakness and thenar muscle atrophy

Disease Ontology : 12 An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences.

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 600794

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Va

Diseases in the Autosomal Dominant Distal Hereditary Motor Neuronopathy family:

Neuronopathy, Distal Hereditary Motor, Type Viia Neuronopathy, Distal Hereditary Motor, Type Iia
Neuronopathy, Distal Hereditary Motor, Type I Neuronopathy, Distal Hereditary Motor, Type Viii
Neuronopathy, Distal Hereditary Motor, Type Va Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Iib Neuronopathy, Distal Hereditary Motor, Type Iic
Neuronopathy, Distal Hereditary Motor, Type Vb Neuronopathy, Distal Hereditary Motor, Type Iid
Neuronopathy, Distal Hereditary Motor, Type Ix Autosomal Recessive Distal Hereditary Motor Neuronopathy
Distal Hereditary Motor Neuronopathy Type 7 Distal Hereditary Motor Neuronopathy Type 2

Diseases related to Neuronopathy, Distal Hereditary Motor, Type Va via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 29.4 REEP1 BSCL2
2 spinal muscular atrophy, distal, autosomal recessive, 5 12.0
3 neuronopathy, distal hereditary motor, type vb 11.6
4 spastic paraplegia 17, autosomal dominant 11.5
5 neuropathy 10.5
6 charcot-marie-tooth disease 10.4
7 tooth disease 10.4
8 charcot-marie-tooth disease, axonal, type 2d 10.3
9 gars1-associated axonal neuropathy 10.3
10 motor neuron disease 10.1
11 axonal neuropathy 10.1
12 spastic paraplegia 31, autosomal dominant 10.1
13 spinal muscular atrophy 10.1
14 motor peripheral neuropathy 10.1
15 paraplegia 10.1
16 muscular atrophy 10.1
17 distal hereditary motor neuropathies 10.1
18 berardinelli-seip congenital lipodystrophy 10.1
19 charcot-marie-tooth hereditary neuropathy 10.1

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:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 upper limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003484
2 thenar muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003393
3 first dorsal interossei muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003392
4 first dorsal interossei muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003426
5 thenar muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003427
6 distal lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009053
7 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
8 impaired vibratory sensation 59 32 frequent (33%) Frequent (79-30%) HP:0002495
9 cold-induced hand cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003435
10 motor polyneuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007178
11 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
12 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
13 hammertoe 59 32 occasional (7.5%) Occasional (29-5%) HP:0001765
14 pes valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0008081
15 pes planus 32 occasional (7.5%) HP:0001763
16 abnormal motor nerve conduction velocity 59 32 very rare (1%) Very rare (<4-1%) HP:0040131
17 distal amyotrophy 59 32 Frequent (79-30%) HP:0003693
18 peripheral neuropathy 32 HP:0009830
19 distal muscle weakness 32 HP:0002460

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
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

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

# Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 5 29 BSCL2 GARS1

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:

(show all 30)
# Title Authors PMID Year
1
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. 9 8 71
16769947 2006
2
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. 9 8 71
12690580 2003
3
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? 8 71
19396477 2009
4
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. 8 71
16427281 2006
5
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 8 71
15732094 2005
6
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 8 71
14981520 2004
7
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. 8 71
9879677 1998
8
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. 8 71
8541851 1995
9
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. 71
25168514 2014
10
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. 71
23553728 2013
11
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 71
22703882 2012
12
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 8
18790819 2009
13
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 8
17387721 2007
14
GARS1-Associated Axonal Neuropathy 71
20301420 2006
15
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. 71
16534118 2006
16
BSCL2-Related Neurologic Disorders/Seipinopathy 71
20301484 2005
17
Molecular genetics of distal hereditary motor neuropathies. 8
15358725 2004
18
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study. 8
10908191 2000
19
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. 8
10400924 1999
20
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
21
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). 8
8872480 1996
22
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. 71
1674639 1991
23
Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship. 8
3981197 1985
24
Juvenile type of distal and segmental muscular atrophy of upper extremities. 8
727722 1978
25
Hereditary motor peripheral neuropathy predominantly affecting the arms. 8
180264 1976
26
A distal form of chronic spinal muscular atrophy. 8
5813127 1969
27
Familial spastic paraplegia with amyotrophy of the hands. 71
5964029 1966
28
Thai Russell's viper monospecific antivenom is immunoreactive and effective in neutralizing the venom of Daboia siamensis from Java, Indonesia. 38
31254600 2019
29
Venom proteomics and antivenom neutralization for the Chinese eastern Russell's viper, Daboia siamensis from Guangxi and Taiwan. 38
29867131 2018
30
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. 9
17663003 2007

Variations for Neuronopathy, Distal Hereditary Motor, Type Va

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

6 (show all 18)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BSCL2 ; HNRNPUL2-BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 11:62469971-62469971 11:62702499-62702499
2 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 11:62469965-62469965 11:62702493-62702493
3 GARS1 NM_002047.4(GARS1): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs137852644 7:30640795-30640795 7:30601179-30601179
4 GARS1 NM_002047.4(GARS1): c.1415A> G (p.His472Arg) single nucleotide variant Pathogenic rs1060502838 7:30661064-30661064 7:30621448-30621448
5 GARS1 NM_002047.4(GARS1): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 7:30651828-30651828 7:30612212-30612212
6 GARS1 NM_002047.4(GARS1): c.643G> C (p.Asp215His) single nucleotide variant Likely pathogenic 7:30642723-30642723 7:30603107-30603107
7 GARS1 NM_002047.4(GARS1): c.374A> G (p.Glu125Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs137852645 7:30639612-30639612 7:30599996-30599996
8 GARS1 NM_002047.4(GARS1): c.1738G> C (p.Gly580Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs137852646 7:30668214-30668214 7:30628598-30628598
9 GARS1 NM_002047.4(GARS1): c.1660G> A (p.Asp554Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs137852647 7:30665896-30665896 7:30626280-30626280
10 GARS1 NM_002047.4(GARS1): c.2042C> T (p.Pro681Leu) single nucleotide variant Uncertain significance rs879254346 7:30672001-30672001 7:30632385-30632385
11 GARS1 NM_002047.4(GARS1): c.262C> G (p.Gln88Glu) single nucleotide variant Uncertain significance rs201728920 7:30638451-30638451 7:30598835-30598835
12 GARS1 NM_002047.4(GARS1): c.1186G> A (p.Val396Ile) single nucleotide variant Uncertain significance rs1060502836 7:30655666-30655666 7:30616050-30616050
13 BSCL2 NM_032667.6(BSCL2): c.1106C> T (p.Ala369Val) single nucleotide variant Uncertain significance 11:62457930-62457930 11:62690458-62690458
14 GARS1 NM_002047.4(GARS1): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 7:30634661-30634661 7:30595045-30595045
15 GARS1 NM_002047.4(GARS1): c.2095-6C> T single nucleotide variant Benign rs2240401 7:30673345-30673345 7:30633729-30633729
16 GARS1 NM_002047.4(GARS1): c.222+5C> T single nucleotide variant Benign rs2072236 7:30634764-30634764 7:30595148-30595148
17 GARS1 NM_002047.4(GARS1): c.93G> C (p.Leu31=) single nucleotide variant Benign rs2529438 7:30634630-30634630 7:30595014-30595014
18 GARS1 NM_001316772.1(GARS1): c.-207C> G single nucleotide variant not provided rs903029869 7:30634493-30634493 7:30594877-30594877

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

74
# Symbol AA change Variation ID SNP ID
1 BSCL2 p.Asn88Ser VAR_022375 rs137852972
2 BSCL2 p.Ser90Leu VAR_022376 rs137852973
3 GARS1 p.Leu183Pro VAR_018719 rs137852644
4 GARS1 p.Gly580Arg VAR_018721 rs137852646
5 GARS1 p.Asp200Asn VAR_073188
6 GARS1 p.Ser265Phe VAR_073189 rs155433797
7 GARS1 p.His472Arg VAR_073192 rs106050283

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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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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