HMN5A
MCID: NRN037
MIFTS: 48

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 43 29 6 15
Dsmav 57 12 43 72
Neuronopathy, Distal Hereditary Motor, Type V 57 44 70
Distal Hereditary Motor Neuropathy Type V 12 58 72
Distal Spinal Muscular Atrophy Type 5 12 58 15
Dhmn5 12 58 72
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 57 43
Distal Hmn V 12 58
Dhmn Va 57 72
Dhmn5a 57 72
Dsmava 57 72
Dhmn-V 43 54
Hmn5a 57 72
Hmn V 43 72
Hmn5 57 12
Distal Spinal Muscular Atrophy with Upper Limb Predominance 12
Spinal Muscular Atrophy Distal with Upper Limb Predominance 72
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 39
Neuropathy, Distal Hereditary Motor, Type Va 57
Distal Hereditary Motor Neuronopathy Type 5a 12
Distal Hereditary Motor Neuronopathy, Type V 43
Distal Hereditary Motor Neuronopathy Type Va 72
Neuropathy, Distal Hereditary Motor, Type V 13
Distal Hereditary Motor Neuropathy, Type V 43
Distal Hereditary Motor Neuropathy Type Va 72
Distal Hereditary Motor Neuropathy Type 5 58
Neuronopathy, Distal Hereditary Motor, 5a 72
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 43
Spinal Muscular Atrophy, Distal Type V 43
Spinal Muscular Atrophy Distal Type Va 72
Distal Spinal Muscular Atrophy Type V 12
Spinal Muscular Atrophy Distal Type V 72
Young Adult-Onset Dhmn 12
Distal Hmn Va 12
Hmn 5a 57
Dhmn V 72
Dsma-V 72
Hmn Va 72
Dsma5 12

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

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

Miscellaneous:
slow disease progression
onset in the first few decades of life
predominantly upper limb weakness and atrophy


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® 57 600794
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 71 C1833308
Orphanet 58 ORPHA139536
MedGen 41 C1833308
UMLS 70 C1833308

Summaries for Neuronopathy, Distal Hereditary Motor, Type Va

MedlinePlus Genetics : 43 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 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 liver, 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.

OMIM® : 57 Distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A) is an autosomal dominant neuromuscular disorder characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life. The disorder is slowly progressive, and most patients eventually have lower limb involvement with foot deformities. Although sensory impairment is uncommon, some patients show this feature, illustrating the phenotypic overlap with CMT2D. Rare patients may have pyramidal signs or hyperreflexia (summary by Christodoulou et al., 1995 and Dubourg et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN1 (182960). (600794) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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.

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 Neuronopathy, Distal Hereditary Motor, Type Vc
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 105)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 17, autosomal dominant 32.2 SPART REEP1 HSPB8 HNRNPUL2-BSCL2 GARS1 BSCL2
2 neuropathy 31.0 MFN2 KARS1 IGHMBP2 HSPB8 GDAP1 GARS1
3 berardinelli-seip congenital lipodystrophy 30.9 HNRNPUL2-BSCL2 BSCL2
4 charcot-marie-tooth hereditary neuropathy 30.9 IGHMBP2 GARS1
5 spastic paraplegia 31, autosomal dominant 30.8 SPART REEP1 BSCL2
6 axonal neuropathy 30.8 MFN2 GDAP1 GARS1
7 muscular atrophy 30.7 IGHMBP2 HSPB8 GARS1 BSCL2
8 hereditary spastic paraplegia 30.5 SPART REEP1 MARS1 HNRNPUL2-BSCL2 BSCL2
9 motor peripheral neuropathy 30.5 REEP1 MFN2 IGHMBP2 HSPB8 GARS1 BSCL2
10 spinal muscular atrophy 30.4 MARS1 IGHMBP2 HSPB8 GARS1 BSCL2 AARS1
11 motor neuron disease 30.4 SPART MFN2 MARS1 GARS1 EPRS1 BSCL2
12 tooth disease 30.2 YARS1 MFN2 MARS1 KARS1 IGHMBP2 HSPB8
13 charcot-marie-tooth disease, axonal, type 2d 30.0 YARS2 YARS1 MFN2 MARS1 KARS1 HSPB8
14 charcot-marie-tooth disease, axonal, type 2e 29.9 YARS1 MFN2 MARS1 KARS1 IGHMBP2 HSPB8
15 charcot-marie-tooth disease 29.7 YARS2 YARS1 REEP1 MFN2 MARS1 KARS1
16 spinal muscular atrophy, distal, autosomal recessive, 5 11.4
17 neuronopathy, distal hereditary motor, type vb 11.4
18 spastic paraplegia 17 10.5 HNRNPUL2-BSCL2 BSCL2
19 bscl2-related neurologic disorders/seipinopathy 10.5 GARS1 BSCL2
20 neuronopathy, distal hereditary motor, type vc 10.5 HNRNPUL2-BSCL2 BSCL2
21 thoracic outlet syndrome 10.4 GARS1 BSCL2
22 encephalopathy, progressive, with or without lipodystrophy 10.4 HNRNPUL2-BSCL2 BSCL2
23 charcot-marie-tooth disease, dominant intermediate a 10.4 YARS1 GDAP1
24 charcot-marie-tooth disease, x-linked recessive, 2 10.4 MFN2 BSCL2
25 neuronopathy, distal hereditary motor, type iib 10.4 IGHMBP2 GARS1
26 lipodystrophy, familial partial, type 3 10.4 HNRNPUL2-BSCL2 BSCL2
27 combined oxidative phosphorylation deficiency 20 10.4 YARS2 KARS1 GARS1
28 autosomal recessive distal hereditary motor neuronopathy 10.4 REEP1 IGHMBP2 GARS1
29 combined oxidative phosphorylation deficiency 8 10.4 YARS1 AARS2
30 charcot-marie-tooth disease, demyelinating, type 1d 10.4 GDAP1 GARS1
31 charcot-marie-tooth disease type x 10.4 MFN2 GDAP1 GARS1
32 spinal muscular atrophy, distal, autosomal recessive, 1 10.4 REEP1 IGHMBP2 GARS1
33 spastic paraplegia 37, autosomal dominant 10.4 SPART REEP1
34 spastic paraplegia 57, autosomal recessive 10.4 REEP1 MARS1
35 charcot-marie-tooth disease type 2a2a 10.4 MFN2 IGHMBP2
36 charcot-marie-tooth disease, x-linked dominant, 1 10.4 MFN2 GDAP1 GARS1
37 pontocerebellar hypoplasia, type 6 10.4 KARS1 DARS2 AARS1
38 spinal muscular atrophy with lower extremity predominance 10.4 IGHMBP2 GDAP1 GARS1
39 myopathy, lactic acidosis, and sideroblastic anemia 10.4 YARS2 AARS2
40 infantile liver failure syndrome 10.4 YARS1 EPRS1 AARS1
41 deafness, autosomal recessive 89 10.4 KARS1 EPRS1
42 neuropathy, hereditary, with liability to pressure palsies 10.4 MFN2 GDAP1 GARS1
43 spastic paraplegia 6, autosomal dominant 10.4 SPART REEP1 BSCL2
44 charcot-marie-tooth disease, type 4b2 10.4 MFN2 GDAP1 GARS1
45 charcot-marie-tooth disease, axonal, type 2b1 10.4 MFN2 GDAP1
46 spastic paraplegia 42, autosomal dominant 10.4 SPART REEP1 BSCL2
47 spastic paraplegia 33, autosomal dominant 10.4 SPART REEP1
48 spastic paraplegia 8, autosomal dominant 10.4 SPART REEP1 BSCL2
49 spastic paraplegia 10, autosomal dominant 10.3 SPART REEP1 BSCL2
50 rigid spine muscular dystrophy 1 10.3 YARS2 YARS1 AARS1

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®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes planus
pes cavus
foot deformities
hammertoes

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

Clinical features from OMIM®:

600794 (Updated 20-May-2021)

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 Increased ionizing radiation sensitivity GR00232-A-1 8.92 BSCL2 EPRS1 MARS1 MIB1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.44 AARS1 AARS2 BSCL2 DARS2 EPRS1 GARS1

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 GARS1

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Va

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

40
Spinal Cord, Liver

Publications for Neuronopathy, Distal Hereditary Motor, Type Va

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

(show all 20)
# Title Authors PMID Year
1
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. 6 54 57
16769947 2006
2
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. 54 57 6
12690580 2003
3
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants. 6 57
31985473 2020
4
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons. 6 57
29648643 2018
5
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. 6 57
9879677 1998
6
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. 57 6
8541851 1995
7
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. 6
25168514 2014
8
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 6
22703882 2012
9
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. 6
16534118 2006
10
Molecular genetics of distal hereditary motor neuropathies. 57
15358725 2004
11
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. 57
10400924 1999
12
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). 57
8872480 1996
13
Juvenile type of distal and segmental muscular atrophy of upper extremities. 57
727722 1978
14
Hereditary motor peripheral neuropathy predominantly affecting the arms. 57
180264 1976
15
A distal form of chronic spinal muscular atrophy. 57
5813127 1969
16
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. 61
32181591 2020
17
Proteomics and antivenom immunoprofiling of Russell's viper (Daboia siamensis) venoms from Thailand and Indonesia. 61
32082369 2020
18
Thai Russell's viper monospecific antivenom is immunoreactive and effective in neutralizing the venom of Daboia siamensis from Java, Indonesia. 61
31254600 2019
19
Venom proteomics and antivenom neutralization for the Chinese eastern Russell's viper, Daboia siamensis from Guangxi and Taiwan. 61
29867131 2018
20
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:

6 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) SNV Pathogenic 4544 rs137852973 GRCh37: 11:62469965-62469965
GRCh38: 11:62702493-62702493
2 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.263A>G (p.Asn88Ser) SNV Pathogenic 4543 rs137852972 GRCh37: 11:62469971-62469971
GRCh38: 11:62702499-62702499
3 GARS1 NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) SNV Pathogenic 9205 rs137852644 GRCh37: 7:30640795-30640795
GRCh38: 7:30601179-30601179
4 GARS1 NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) SNV Pathogenic 9207 rs137852646 GRCh37: 7:30668214-30668214
GRCh38: 7:30628598-30628598
5 REEP1 NM_001371279.1(REEP1):c.304-2A>G SNV Pathogenic 35598 rs387907242 GRCh37: 2:86479195-86479195
GRCh38: 2:86252072-86252072
6 GARS1 NM_002047.4(GARS1):c.1415A>G (p.His472Arg) SNV Pathogenic 410314 rs1060502838 GRCh37: 7:30661064-30661064
GRCh38: 7:30621448-30621448
7 PNPO NM_018129.4(PNPO):c.674G>A (p.Arg225His) SNV Pathogenic 223153 GRCh37: 17:46024036-46024036
GRCh38: 17:47946670-47946670
8 GARS1 NM_002047.4(GARS1):c.647A>G (p.His216Arg) SNV Pathogenic 694991 rs768987322 GRCh37: 7:30642727-30642727
GRCh38: 7:30603111-30603111
9 GARS1 NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) SNV Pathogenic 9206 rs137852645 GRCh37: 7:30639612-30639612
GRCh38: 7:30599996-30599996
10 GARS1 NM_002047.4(GARS1):c.998A>T (p.Glu333Val) SNV Likely pathogenic 216930 rs863224873 GRCh37: 7:30651828-30651828
GRCh38: 7:30612212-30612212
11 GARS1 NM_002047.4(GARS1):c.643G>C (p.Asp215His) SNV Likely pathogenic 617635 rs1584026191 GRCh37: 7:30642723-30642723
GRCh38: 7:30603107-30603107
12 GARS1 NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) SNV Uncertain significance 410310 rs1060502836 GRCh37: 7:30655666-30655666
GRCh38: 7:30616050-30616050
13 REEP1 NM_001371279.1(REEP1):c.206A>C (p.Lys69Thr) SNV Uncertain significance 1029867 GRCh37: 2:86481914-86481914
GRCh38: 2:86254791-86254791
14 REEP1 NM_001371279.1(REEP1):c.837G>T (p.Ser279=) SNV Uncertain significance 1861 rs377637314 GRCh37: 2:86444180-86444180
GRCh38: 2:86217057-86217057
15 GARS1 NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) SNV Uncertain significance 410311 rs201728920 GRCh37: 7:30638451-30638451
GRCh38: 7:30598835-30598835
16 GARS1 NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) SNV Uncertain significance 9208 rs137852647 GRCh37: 7:30665896-30665896
GRCh38: 7:30626280-30626280
17 GARS1 NM_002047.4(GARS1):c.2211C>T (p.Ile737=) SNV Uncertain significance 360018 rs886062274 GRCh37: 7:30673467-30673467
GRCh38: 7:30633851-30633851
18 GARS1 NM_002047.4(GARS1):c.882-4A>G SNV Uncertain significance 360009 rs778219649 GRCh37: 7:30651708-30651708
GRCh38: 7:30612092-30612092
19 GARS1 NM_002047.3(GARS):c.-237A>C SNV Uncertain significance 359991 rs540431164 GRCh37: 7:30634301-30634301
GRCh38: 7:30594685-30594685
20 GARS1 NM_001316772.1(GARS1):c.-242C>T SNV Uncertain significance 359997 rs886062270 GRCh37: 7:30634458-30634458
GRCh38: 7:30594842-30594842
21 GARS1 NM_001316772.1(GARS1):c.-221C>T SNV Uncertain significance 359999 rs886062271 GRCh37: 7:30634479-30634479
GRCh38: 7:30594863-30594863
22 GARS1 NM_002047.3(GARS):c.-197G>C SNV Uncertain significance 359995 rs886062269 GRCh37: 7:30634341-30634341
GRCh38: 7:30594725-30594725
23 GARS1 NM_002047.4(GARS1):c.616G>A (p.Val206Ile) SNV Uncertain significance 649537 rs1584026136 GRCh37: 7:30642696-30642696
GRCh38: 7:30603080-30603080
24 GARS1 NM_002047.4(GARS1):c.1059C>G (p.His353Gln) SNV Uncertain significance 360010 rs886062273 GRCh37: 7:30655539-30655539
GRCh38: 7:30615923-30615923
25 GARS1 NM_002047.4(GARS1):c.-36C>T SNV Uncertain significance 360001 rs531483802 GRCh37: 7:30634502-30634502
GRCh38: 7:30594886-30594886
26 GARS1 NM_002047.4(GARS1):c.384G>A (p.Leu128=) SNV Uncertain significance 360003 rs886062272 GRCh37: 7:30639622-30639622
GRCh38: 7:30600006-30600006
27 GARS1 NM_002047.4(GARS1):c.1188T>C (p.Val396=) SNV Uncertain significance 911861 GRCh37: 7:30655668-30655668
GRCh38: 7:30616052-30616052
28 GARS1 NM_002047.4(GARS1):c.1194+3A>C SNV Uncertain significance 911862 GRCh37: 7:30655677-30655677
GRCh38: 7:30616061-30616061
29 GARS1 NM_002047.4(GARS1):c.*145C>A SNV Uncertain significance 911971 GRCh37: 7:30673621-30673621
GRCh38: 7:30634005-30634005
30 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.256G>A (p.Val86Ile) SNV Uncertain significance 246599 rs149412531 GRCh37: 11:62469978-62469978
GRCh38: 11:62702506-62702506
31 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.352C>A (p.Pro118Thr) SNV Uncertain significance 305181 rs886048442 GRCh37: 11:62462126-62462126
GRCh38: 11:62694654-62694654
32 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.862A>G (p.Ile288Val) SNV Uncertain significance 305174 rs775718358 GRCh37: 11:62458565-62458565
GRCh38: 11:62691093-62691093
33 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.669C>T (p.Leu223=) SNV Uncertain significance 305176 rs370926100 GRCh37: 11:62459850-62459850
GRCh38: 11:62692378-62692378
34 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.1042+14T>G SNV Uncertain significance 305173 rs778380128 GRCh37: 11:62458070-62458070
GRCh38: 11:62690598-62690598
35 GARS1 NM_002047.4(GARS1):c.1143G>C (p.Gln381His) SNV Uncertain significance 910635 GRCh37: 7:30655623-30655623
GRCh38: 7:30616007-30616007
36 GARS1 NM_002047.4(GARS1):c.1770A>G (p.Glu590=) SNV Uncertain significance 910686 GRCh37: 7:30668246-30668246
GRCh38: 7:30628630-30628630
37 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.-140A>C SNV Uncertain significance 305187 rs886048443 GRCh37: 11:62473709-62473709
GRCh38: 11:62706237-62706237
38 GARS1 NM_001316772.1(GARS1):c.-231T>G SNV Uncertain significance 911698 GRCh37: 7:30634469-30634469
GRCh38: 7:30594853-30594853
39 GARS1 NM_001316772.1(GARS1):c.-247C>A SNV Uncertain significance 910466 GRCh37: 7:30634453-30634453
GRCh38: 7:30594837-30594837
40 GARS1 NM_001316772.1(GARS1):c.-328T>G SNV Uncertain significance 910465 GRCh37: 7:30634372-30634372
GRCh38: 7:30594756-30594756
41 GARS1 NM_001316772.1(GARS1):c.-226C>T SNV Uncertain significance 908741 GRCh37: 7:30634474-30634474
GRCh38: 7:30594858-30594858
42 GARS1 NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) SNV Uncertain significance 246654 rs879254346 GRCh37: 7:30672001-30672001
GRCh38: 7:30632385-30632385
43 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.631G>A (p.Gly211Arg) SNV Uncertain significance 305178 rs151018278 GRCh37: 11:62459888-62459888
GRCh38: 11:62692416-62692416
44 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.-9C>T SNV Uncertain significance 305182 rs756907468 GRCh37: 11:62472993-62472993
GRCh38: 11:62705521-62705521
45 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.232A>G (p.Thr78Ala) SNV Uncertain significance 631661 rs1565150951 GRCh37: 11:62470002-62470002
GRCh38: 11:62702530-62702530
46 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.794G>A (p.Arg265Gln) SNV Uncertain significance 879799 GRCh37: 11:62458771-62458771
GRCh38: 11:62691299-62691299
47 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.799C>T (p.Arg267Cys) SNV Uncertain significance 879798 GRCh37: 11:62458766-62458766
GRCh38: 11:62691294-62691294
48 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.1008C>T (p.Ser336=) SNV Uncertain significance 879418 GRCh37: 11:62458118-62458118
GRCh38: 11:62690646-62690646
49 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.1009G>A (p.Gly337Arg) SNV Uncertain significance 245798 rs138964424 GRCh37: 11:62458117-62458117
GRCh38: 11:62690645-62690645
50 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.1010G>A (p.Gly337Glu) SNV Uncertain significance 567989 rs767463971 GRCh37: 11:62458116-62458116
GRCh38: 11:62690644-62690644

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

72
# 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 rs155433736
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 nuclear body GO:0016604 9.67 YARS2 YARS1 IGHMBP2 HSPB8
4 mitochondrial matrix GO:0005759 9.65 YARS2 KARS1 HARS2 GARS1 DARS2
5 mitochondrion GO:0005739 9.32 YARS2 REEP1 MFN2 KARS1 HARS2 GDAP1
6 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 neuromuscular process GO:0050905 9.48 SPART AARS1
4 lipid droplet organization GO:0034389 9.46 SPART BSCL2
5 mitochondrial fusion GO:0008053 9.43 MFN2 GDAP1
6 aminoacyl-tRNA metabolism involved in translational fidelity GO:0106074 9.4 AARS2 AARS1
7 alanyl-tRNA aminoacylation GO:0006419 9.37 AARS2 AARS1
8 diadenosine tetraphosphate biosynthetic process GO:0015966 9.32 KARS1 GARS1
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
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
Content
Loading form....