HMN5A
MCID: NRN037
MIFTS: 49

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 56
Distal Hereditary Motor Neuronopathy Type 5 12 25 29 6 15
Dsmav 56 12 25 73
Neuronopathy, Distal Hereditary Motor, Type V 56 43 71
Distal Hereditary Motor Neuropathy Type V 12 58 73
Distal Spinal Muscular Atrophy Type 5 12 58 15
Dhmn5 12 58 73
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 56 25
Distal Hmn V 12 58
Dhmn Va 56 73
Hmn Va 56 73
Dhmn5a 56 73
Dsmava 56 73
Dhmn-V 25 54
Hmn5a 56 73
Hmn V 25 73
Hmn5 56 12
Distal Spinal Muscular Atrophy with Upper Limb Predominance 12
Spinal Muscular Atrophy Distal with Upper Limb Predominance 73
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 12
Neuropathy, Distal Hereditary Motor, Type Va; Dhmn5a 56
Young Adult-Onset Distal Hereditary Motor Neuropathy 12
Neuronopathy, Distal Hereditary Motor, Type V; Hmn5 56
Spinal Muscular Atrophy, Distal, Type Va; Dsmava 56
Spinal Muscular Atrophy, Distal, Type V; Dsmav 56
Neuropathy, Motor, Distal, Hereditary, Type Va 39
Neuropathy, Distal Hereditary Motor, Type Va 56
Distal Hereditary Motor Neuronopathy Type 5a 12
Distal Hereditary Motor Neuronopathy, Type V 25
Distal Hereditary Motor Neuronopathy Type Va 73
Neuropathy, Distal Hereditary Motor, Type V 13
Distal Hereditary Motor Neuropathy, Type V 25
Distal Hereditary Motor Neuropathy Type Va 73
Distal Hereditary Motor Neuropathy Type 5 58
Neuronopathy, Distal Hereditary Motor, 5a 73
Spinal Muscular Atrophy, Distal, Type Va 56
Spinal Muscular Atrophy, Distal, Type V 56
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 73
Distal Spinal Muscular Atrophy Type V 12
Spinal Muscular Atrophy Distal Type V 73
Young Adult-Onset Dhmn 12
Distal Hmn Va 12
Dhmn V 73
Dsma-V 73
Dsma5 12

Characteristics:

Orphanet epidemiological data:

58
distal hereditary motor neuropathy type 5
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

56
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:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 600794
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 72 C1833308
Orphanet 58 ORPHA139536
MedGen 41 C1833308
UMLS 71 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 spastic paraplegia 17, autosomal dominant and gars1-associated axonal neuropathy. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Va is GARS1 (Glycyl-TRNA Synthetase 1), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. Affiliated tissues include spinal cord, and related phenotypes are impaired vibratory sensation and distal lower limb muscle weakness

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 : 73 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 top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 17, autosomal dominant 32.5 SPART REEP1 GARS1 BSCL2 AGPAT2
2 gars1-associated axonal neuropathy 31.3 GARS1 BSCL2
3 neuropathy 31.0 MFN2 IGHMBP2 HSPB8 GDAP1 GARS1
4 berardinelli-seip congenital lipodystrophy 30.9 BSCL2 AGPAT2
5 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.9 BSCL2 AGPAT2
6 axonal neuropathy 30.9 MFN2 GDAP1 GARS1
7 charcot-marie-tooth hereditary neuropathy 30.9 IGHMBP2 GARS1
8 distal hereditary motor neuropathies 30.9 IGHMBP2 GARS1
9 spastic paraplegia 31, autosomal dominant 30.8 SPART REEP1 BSCL2
10 muscular atrophy 30.7 IGHMBP2 HSPB8 GARS1 BSCL2
11 motor neuron disease 30.4 SPART MFN2 MARS1 GARS1 BSCL2
12 motor peripheral neuropathy 30.3 REEP1 MFN2 IGHMBP2 HSPB8 GARS1 BSCL2
13 spinal muscular atrophy 30.3 MARS1 IGHMBP2 HSPB8 GARS1 BSCL2 AARS1
14 hereditary spastic paraplegia 30.2 SPART REEP1 MARS1 BSCL2
15 tooth disease 29.9 YARS1 MFN2 MARS1 KARS1 IGHMBP2 HSPB8
16 charcot-marie-tooth disease, axonal, type 2d 29.4 YARS2 YARS1 MFN2 MARS1 KARS1 HSPB8
17 charcot-marie-tooth disease 28.9 YARS2 YARS1 REEP1 MFN2 MARS1 KARS1
18 spinal muscular atrophy, distal, autosomal recessive, 5 12.1
19 neuronopathy, distal hereditary motor, type vb 11.6
20 bscl2-related neurologic disorders/seipinopathy 10.6 GARS1 BSCL2
21 charcot-marie-tooth disease, dominant intermediate a 10.6 YARS1 GDAP1
22 genetic motor neuron disease 10.6 MFN2 GARS1
23 adiposis dolorosa 10.5 BSCL2 AGPAT2
24 lipodystrophy, familial partial, type 1 10.5 BSCL2 AGPAT2
25 lipodystrophy, congenital generalized, type 4 10.5 BSCL2 AGPAT2
26 charcot-marie-tooth disease, x-linked recessive, 2 10.5 MFN2 BSCL2
27 charcot-marie-tooth disease, axonal, type 2j 10.5 GDAP1 GARS1
28 charcot-marie-tooth disease, axonal, type 2w 10.5 MFN2 GDAP1
29 combined oxidative phosphorylation deficiency 8 10.5 YARS1 AARS2
30 lipodystrophy, congenital generalized, type 3 10.5 BSCL2 AGPAT2
31 spinal muscular atrophy with lower extremity predominance 10.5 IGHMBP2 GARS1
32 spastic ataxia 2 10.5 REEP1 MARS1
33 acquired generalized lipodystrophy 10.5 BSCL2 AGPAT2
34 combined oxidative phosphorylation deficiency 20 10.5 YARS2 KARS1 GARS1
35 lipodystrophy, familial partial, type 3 10.5 BSCL2 AGPAT2
36 charcot-marie-tooth disease type 2a2a 10.5 MFN2 IGHMBP2
37 charcot-marie-tooth disease, demyelinating, type 1d 10.5 GDAP1 GARS1
38 charcot-marie-tooth disease type x 10.5 MFN2 GDAP1 GARS1
39 autosomal recessive distal hereditary motor neuronopathy 10.5 REEP1 IGHMBP2 GARS1
40 deafness, autosomal recessive 89 10.5 KARS1 EPRS1
41 charcot-marie-tooth disease, x-linked dominant, 1 10.5 MFN2 GDAP1 GARS1
42 myopathy, lactic acidosis, and sideroblastic anemia 10.5 YARS2 AARS2
43 charcot-marie-tooth disease, demyelinating, type 1b 10.5 MFN2 GDAP1 GARS1
44 spinal muscular atrophy, distal, autosomal recessive, 1 10.5 REEP1 IGHMBP2 GARS1
45 charcot-marie-tooth disease, axonal, type 2b 10.5 HSPB8 GDAP1 GARS1
46 rigid spine muscular dystrophy 1 10.5 YARS2 YARS1 AARS1
47 lipodystrophy, congenital generalized, type 1 10.5 BSCL2 AGPAT2
48 spastic paraplegia 57, autosomal recessive 10.5 REEP1 MARS1
49 neuropathy, hereditary, with liability to pressure palsies 10.5 MFN2 GDAP1 GARS1
50 hypertrophic neuropathy of dejerine-sottas 10.4 MFN2 GDAP1 GARS1

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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%) HP:0002495
2 distal lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009053
3 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
4 upper limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003484
5 motor polyneuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007178
6 thenar muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003393
7 first dorsal interossei muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003392
8 first dorsal interossei muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003426
9 thenar muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003427
10 cold-induced hand cramps 58 31 frequent (33%) Frequent (79-30%) HP:0003435
11 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
12 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
13 hammertoe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001765
14 pes valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008081
15 pes planus 31 occasional (7.5%) HP:0001763
16 abnormal motor nerve conduction velocity 58 31 very rare (1%) Very rare (<4-1%) HP:0040131
17 distal amyotrophy 58 31 Frequent (79-30%) HP:0003693
18 peripheral neuropathy 31 HP:0009830
19 distal muscle weakness 31 HP:0002460

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Neuronopathy, Distal Hereditary Motor, Type Va according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.62 KARS1
2 Decreased viability GR00107-A-1 9.62 HSPB8
3 Decreased viability GR00221-A-1 9.62 HSPB8
4 Decreased viability GR00221-A-4 9.62 HSPB8
5 Decreased viability GR00240-S-1 9.62 EPRS1 MIB1
6 Decreased viability GR00249-S 9.62 HARS2 KARS1 MARS1 MIB1 PNPO
7 Decreased viability GR00301-A 9.62 HSPB8
8 Decreased viability GR00381-A-1 9.62 AGPAT2
9 Decreased viability GR00386-A-1 9.62 KARS1 MARS1 SPART
10 Decreased viability GR00402-S-2 9.62 EPRS1 GARS1 KARS1 YARS1

MGI Mouse Phenotypes related to Neuronopathy, Distal Hereditary Motor, Type Va:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AARS1 AARS2 AGPAT2 BSCL2 GARS1 GDAP1
2 mortality/aging MP:0010768 9.44 AARS1 AARS2 AGPAT2 BSCL2 DARS2 EPRS1

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

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

Cochrane evidence based reviews: neuronopathy, distal hereditary motor, type v

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:

40
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Va

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

(show all 32)
# Title Authors PMID Year
1
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. 54 6 56
16769947 2006
2
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. 6 56 54
12690580 2003
3
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? 56 6
19396477 2009
4
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. 56 6
16427281 2006
5
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 56 6
15732094 2005
6
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 6 56
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. 56 6
9879677 1998
8
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. 6 56
8541851 1995
9
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. 6
25168514 2014
10
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. 6
23553728 2013
11
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 6
22703882 2012
12
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 56
18790819 2009
13
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 56
17387721 2007
14
GARS1-Associated Axonal Neuropathy 6
20301420 2006
15
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. 6
16534118 2006
16
BSCL2-Related Neurologic Disorders/Seipinopathy 6
20301484 2005
17
Molecular genetics of distal hereditary motor neuropathies. 56
15358725 2004
18
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study. 56
10908191 2000
19
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. 56
10400924 1999
20
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
21
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). 56
8872480 1996
22
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. 6
1674639 1991
23
Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship. 56
3981197 1985
24
Juvenile type of distal and segmental muscular atrophy of upper extremities. 56
727722 1978
25
Hereditary motor peripheral neuropathy predominantly affecting the arms. 56
180264 1976
26
A distal form of chronic spinal muscular atrophy. 56
5813127 1969
27
Familial spastic paraplegia with amyotrophy of the hands. 6
5964029 1966
28
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. 61
32181591 2020
29
Proteomics and antivenom immunoprofiling of Russell's viper (Daboia siamensis) venoms from Thailand and Indonesia. 61
32082369 2020
30
Thai Russell's viper monospecific antivenom is immunoreactive and effective in neutralizing the venom of Daboia siamensis from Java, Indonesia. 61
31254600 2019
31
Venom proteomics and antivenom neutralization for the Chinese eastern Russell's viper, Daboia siamensis from Guangxi and Taiwan. 61
29867131 2018
32
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. 54
17663003 2007

Variations for Neuronopathy, Distal Hereditary Motor, Type Va

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GARS1 NM_002047.4(GARS1):c.1415A>G (p.His472Arg)SNV Pathogenic 410314 rs1060502838 7:30661064-30661064 7:30621448-30621448
2 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.263A>G (p.Asn88Ser)SNV Pathogenic 4543 rs137852972 11:62469971-62469971 11:62702499-62702499
3 BSCL2 NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu)SNV Pathogenic 4544 rs137852973 11:62469965-62469965 11:62702493-62702493
4 PNPO NM_018129.4(PNPO):c.674G>A (p.Arg225His)SNV Pathogenic 223153 rs550423482 17:46024036-46024036 17:47946670-47946670
5 GARS1 NM_002047.4(GARS1):c.998A>T (p.Glu333Val)SNV Likely pathogenic 216930 rs863224873 7:30651828-30651828 7:30612212-30612212
6 GARS1 NM_002047.4(GARS1):c.643G>C (p.Asp215His)SNV Likely pathogenic 617635 7:30642723-30642723 7:30603107-30603107
7 GARS1 NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)SNV Conflicting interpretations of pathogenicity 9205 rs137852644 7:30640795-30640795 7:30601179-30601179
8 GARS1 NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)SNV Conflicting interpretations of pathogenicity 9206 rs137852645 7:30639612-30639612 7:30599996-30599996
9 GARS1 NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)SNV Conflicting interpretations of pathogenicity 9207 rs137852646 7:30668214-30668214 7:30628598-30628598
10 GARS1 NM_002047.4(GARS1):c.1716G>A (p.Pro572=)SNV Conflicting interpretations of pathogenicity 194367 rs370608239 7:30668192-30668192 7:30628576-30628576
11 GARS1 NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)SNV Conflicting interpretations of pathogenicity 216550 rs369894731 7:30671106-30671106 7:30631490-30631490
12 GARS1 NM_002047.4(GARS1):c.302G>A (p.Arg101His)SNV Conflicting interpretations of pathogenicity 245685 rs200887429 7:30638491-30638491 7:30598875-30598875
13 BSCL2 NM_032667.6(BSCL2):c.396C>T (p.Cys132=)SNV Conflicting interpretations of pathogenicity 220467 rs369806785 11:62462082-62462082 11:62694610-62694610
14 BSCL2 NM_032667.6(BSCL2):c.553G>A (p.Ala185Thr)SNV Conflicting interpretations of pathogenicity 246574 rs10776 11:62460155-62460155 11:62692683-62692683
15 BSCL2 NM_032667.6(BSCL2):c.256G>A (p.Val86Ile)SNV Conflicting interpretations of pathogenicity 246599 rs149412531 11:62469978-62469978 11:62702506-62702506
16 GARS1 NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)SNV Conflicting interpretations of pathogenicity 422016 rs200294578 7:30638442-30638442 7:30598826-30598826
17 GARS1 NM_002047.4(GARS1):c.562G>A (p.Val188Ile)SNV Conflicting interpretations of pathogenicity 431819 rs376772628 7:30640809-30640809 7:30601193-30601193
18 GARS1 NM_002047.4(GARS1):c.700G>A (p.Glu234Lys)SNV Conflicting interpretations of pathogenicity 476760 rs373326652 7:30643153-30643153 7:30603537-30603537
19 BSCL2 NM_032667.6(BSCL2):c.618C>T (p.Arg206=)SNV Conflicting interpretations of pathogenicity 515141 rs998498207 11:62459901-62459901 11:62692429-62692429
20 GARS1 NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)SNV Conflicting interpretations of pathogenicity 834709 7:30665930-30665930 7:30626314-30626314
21 GARS1 NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)SNV Conflicting interpretations of pathogenicity 908914 7:30656788-30656788 7:30617172-30617172
22 BSCL2 NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro)SNV Conflicting interpretations of pathogenicity 128532 rs145649423 11:62457948-62457948 11:62690476-62690476
23 GARS1 NM_002047.4(GARS1):c.765G>A (p.Ala255=)SNV Conflicting interpretations of pathogenicity 360006 rs201447520 7:30649230-30649230 7:30609614-30609614
24 GARS1 NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)SNV Conflicting interpretations of pathogenicity 360011 rs192443850 7:30655580-30655580 7:30615964-30615964
25 GARS1 NM_002047.4(GARS1):c.1809+14T>CSNV Conflicting interpretations of pathogenicity 360016 rs367739730 7:30668299-30668299 7:30628683-30628683
26 GARS1 NM_002047.4(GARS1):c.764C>T (p.Ala255Val)SNV Conflicting interpretations of pathogenicity 360005 rs765478968 7:30649229-30649229 7:30609613-30609613
27 GARS1 NM_002047.4(GARS1):c.882-15T>GSNV Conflicting interpretations of pathogenicity 360008 rs199741850 7:30651697-30651697 7:30612081-30612081
28 GARS1 NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)SNV Conflicting interpretations of pathogenicity 360014 rs538571144 7:30661943-30661943 7:30622327-30622327
29 BSCL2 NM_032667.6(BSCL2):c.669C>T (p.Leu223=)SNV Conflicting interpretations of pathogenicity 305176 rs370926100 11:62459850-62459850 11:62692378-62692378
30 BSCL2 NM_032667.6(BSCL2):c.423C>T (p.Ser141=)SNV Conflicting interpretations of pathogenicity 305180 rs140208002 11:62462055-62462055 11:62694583-62694583
31 BSCL2 NM_001122955.3(BSCL2):c.124C>T (p.Arg42Cys)SNV Conflicting interpretations of pathogenicity 305185 rs201493373 11:62473053-62473053 11:62705581-62705581
32 BSCL2 NM_032667.6(BSCL2):c.-194G>TSNV Conflicting interpretations of pathogenicity 305191 rs549450153 11:62473763-62473763 11:62706291-62706291
33 BSCL2 NM_032667.6(BSCL2):c.631G>A (p.Gly211Arg)SNV Conflicting interpretations of pathogenicity 305178 rs151018278 11:62459888-62459888 11:62692416-62692416
34 BSCL2 NM_001122955.3(BSCL2):c.184C>T (p.Leu62Phe)SNV Uncertain significance 305182 rs756907468 11:62472993-62472993 11:62705521-62705521
35 BSCL2 NM_001122955.3(BSCL2):c.131G>A (p.Gly44Asp)SNV Uncertain significance 305184 rs769536524 11:62473046-62473046 11:62705574-62705574
36 BSCL2 NM_032667.6(BSCL2):c.*49T>GSNV Uncertain significance 305172 rs368144792 11:62457790-62457790 11:62690318-62690318
37 BSCL2 NM_032667.6(BSCL2):c.862A>G (p.Ile288Val)SNV Uncertain significance 305174 rs775718358 11:62458565-62458565 11:62691093-62691093
38 BSCL2 NM_032667.6(BSCL2):c.553G>T (p.Ala185Ser)SNV Uncertain significance 305179 rs10776 11:62460155-62460155 11:62692683-62692683
39 BSCL2 NM_032667.6(BSCL2):c.352C>A (p.Pro118Thr)SNV Uncertain significance 305181 rs886048442 11:62462126-62462126 11:62694654-62694654
40 BSCL2 NM_032667.6(BSCL2):c.1042+14T>GSNV Uncertain significance 305173 rs778380128 11:62458070-62458070 11:62690598-62690598
41 BSCL2 NM_032667.6(BSCL2):c.-140A>CSNV Uncertain significance 305187 rs886048443 11:62473709-62473709 11:62706237-62706237
42 GARS1 NM_002047.4(GARS1):c.1059C>G (p.His353Gln)SNV Uncertain significance 360010 rs886062273 7:30655539-30655539 7:30615923-30615923
43 GARS1 NM_002047.3(GARS):c.-237A>CSNV Uncertain significance 359991 rs540431164 7:30634301-30634301 7:30594685-30594685
44 GARS1 NM_002047.4(GARS1):c.882-4A>GSNV Uncertain significance 360009 rs778219649 7:30651708-30651708 7:30612092-30612092
45 GARS1 NM_002047.4(GARS1):c.2211C>T (p.Ile737=)SNV Uncertain significance 360018 rs886062274 7:30673467-30673467 7:30633851-30633851
46 GARS1 NM_002047.3(GARS):c.-197G>CSNV Uncertain significance 359995 rs886062269 7:30634341-30634341 7:30594725-30594725
47 GARS1 NM_001316772.1(GARS1):c.-242C>TSNV Uncertain significance 359997 rs886062270 7:30634458-30634458 7:30594842-30594842
48 GARS1 NM_002047.4(GARS1):c.1770A>G (p.Glu590=)SNV Uncertain significance 910686 7:30668246-30668246 7:30628630-30628630
49 GARS1 NM_002047.4(GARS1):c.*145C>ASNV Uncertain significance 911971 7:30673621-30673621 7:30634005-30634005
50 GARS1 NM_002047.4(GARS1):c.1194+3A>CSNV Uncertain significance 911862 7:30655677-30655677 7:30616061-30616061

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

73
# 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

Pathways related to Neuronopathy, Distal Hereditary Motor, Type Va according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 YARS2 YARS1 MARS1 KARS1 HARS2 GARS1
2
Show member pathways
11.57 YARS2 YARS1 MARS1 KARS1 HARS2 GARS1

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Va

Cellular components related to Neuronopathy, Distal Hereditary Motor, Type Va according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.2 YARS1 SPART REEP1 MIB1 MARS1 KARS1
2 cytosol GO:0005829 10 YARS2 YARS1 SPART PNPO MIB1 MFN2
3 mitochondrial matrix GO:0005759 9.65 YARS2 KARS1 HARS2 GARS1 DARS2
4 mitochondrion GO:0005739 9.32 YARS2 REEP1 MFN2 KARS1 HARS2 GDAP1
5 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 9.13 MARS1 KARS1 EPRS1

Biological processes related to Neuronopathy, Distal Hereditary Motor, Type Va according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.7 YARS2 YARS1 MARS1 KARS1 IGHMBP2 HARS2
2 tRNA aminoacylation GO:0043039 9.55 YARS2 EPRS1 DARS2 AARS2 AARS1
3 lipid droplet organization GO:0034389 9.48 SPART BSCL2
4 mitochondrial fusion GO:0008053 9.46 MFN2 GDAP1
5 aminoacyl-tRNA metabolism involved in translational fidelity GO:0106074 9.43 AARS2 AARS1
6 alanyl-tRNA aminoacylation GO:0006419 9.4 AARS2 AARS1
7 diadenosine tetraphosphate biosynthetic process GO:0015966 9.37 KARS1 GARS1
8 mitochondrial alanyl-tRNA aminoacylation GO:0070143 9.32 AARS2 AARS1
9 tRNA aminoacylation for protein translation GO:0006418 9.28 YARS2 YARS1 MARS1 KARS1 HARS2 GARS1
10 tyrosyl-tRNA aminoacylation GO:0006437 9.26 YARS2 YARS1

Molecular functions related to Neuronopathy, Distal Hereditary Motor, Type Va according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 10.08 YARS2 YARS1 MARS1 IGHMBP2 HARS2 EPRS1
2 ATP binding GO:0005524 10.06 YARS2 YARS1 MARS1 KARS1 IGHMBP2 HARS2
3 nucleotide binding GO:0000166 10.03 YARS2 YARS1 MFN2 MARS1 KARS1 IGHMBP2
4 protein homodimerization activity GO:0042803 9.93 YARS2 PNPO KARS1 HSPB8 EPRS1 DARS2
5 tRNA binding GO:0000049 9.76 YARS2 YARS1 MARS1 KARS1 IGHMBP2 DARS2
6 ligase activity GO:0016874 9.65 YARS2 YARS1 MARS1 KARS1 HARS2 GARS1
7 amino acid binding GO:0016597 9.54 KARS1 AARS2 AARS1
8 aminoacyl-tRNA editing activity GO:0002161 9.49 AARS2 AARS1
9 alanine-tRNA ligase activity GO:0004813 9.43 AARS2 AARS1
10 tyrosine-tRNA ligase activity GO:0004831 9.4 YARS2 YARS1
11 aminoacyl-tRNA ligase activity GO:0004812 9.32 YARS2 YARS1 MARS1 KARS1 HARS2 GARS1

Sources for Neuronopathy, Distal Hereditary Motor, Type Va

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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