Distal Hereditary Motor Neuropathy, Type V disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Distal Hereditary Motor Neuropathy, Type V

MalaCards integrated aliases for Distal Hereditary Motor Neuropathy, Type V:

Name: Distal Hereditary Motor Neuropathy, Type V ²⁵

Distal Hereditary Motor Neuronopathy Type 5 ²⁵ ²⁹ ⁶

Dhmn-V ²⁵ ⁵⁵

Spinal Muscular Atrophy, Distal, with Upper Limb Predominance ²⁵

Neuronopathy, Distal Hereditary Motor, Type V ⁷³

Distal Hereditary Motor Neuronopathy, Type V ²⁵

Neuropathy, Distal Hereditary Motor, Type V ¹³

Distal Hereditary Motor Neuropathy Type 5 ⁵⁹

Distal Hereditary Motor Neuropathy Type V ⁵⁹

Distal Spinal Muscular Atrophy, Type V ²⁵

Spinal Muscular Atrophy, Distal Type V ²⁵

Distal Spinal Muscular Atrophy Type 5 ⁵⁹

Distal Hmn V ⁵⁹

Dsmav ²⁵

Hmn V ²⁵

Dhmn5 ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Spinal muscular atrophy and related syndromes

Motor neuron disease

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

Orphanet ⁵⁹ ORPHA139536

UMLS via Orphanet ⁷⁴ C1833308

ICD10 via Orphanet ³⁴ G12.2

UMLS ⁷³ C1833308

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Summaries for Distal Hereditary Motor Neuropathy, Type V

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.

MalaCards based summary : Distal Hereditary Motor Neuropathy, Type V, also known as distal hereditary motor neuronopathy type 5, is related to neuronopathy, distal hereditary motor, type va and charcot-marie-tooth disease. An important gene associated with Distal Hereditary Motor Neuropathy, Type V is GARS (Glycyl-TRNA Synthetase). Affiliated tissues include spinal cord.

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Related Diseases for Distal Hereditary Motor Neuropathy, Type V

Diseases in the Distal Hereditary Motor Neuropathies family:

Distal Hereditary Motor Neuropathy, Type Ii	Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuropathy Type 7

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

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	neuronopathy, distal hereditary motor, type va	32.3	BSCL2 GARS
2	charcot-marie-tooth disease	30.0	BSCL2 GARS
3	spinal muscular atrophy, distal, autosomal recessive, 5	11.4
4	neuropathy	10.5
5	charcot-marie-tooth hereditary neuropathy	10.5
6	spinal muscular atrophy	10.4
7	muscular atrophy	10.4
8	charcot-marie-tooth disease, axonal, type 2d	10.3
9	tooth disease	10.3
10	spastic paraplegia 17, autosomal dominant	10.1
11	charcot-marie-tooth disease, axonal, type 2e	9.8	BSCL2 GARS
12	hereditary spastic paraplegia	9.7	BSCL2 REEP1

Graphical network of the top 20 diseases related to Distal Hereditary Motor Neuropathy, Type V:

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Symptoms & Phenotypes for Distal Hereditary Motor Neuropathy, Type V

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Drugs & Therapeutics for Distal Hereditary Motor Neuropathy, Type V

Search Clinical Trials , NIH Clinical Center for Distal Hereditary Motor Neuropathy, Type V

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Genetic Tests for Distal Hereditary Motor Neuropathy, Type V

Genetic tests related to Distal Hereditary Motor Neuropathy, Type V:

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

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Anatomical Context for Distal Hereditary Motor Neuropathy, Type V

MalaCards organs/tissues related to Distal Hereditary Motor Neuropathy, Type V:

⁴¹

Spinal Cord

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Publications for Distal Hereditary Motor Neuropathy, Type V

Articles related to Distal Hereditary Motor Neuropathy, Type V:

#	Title	Authors	Year
1	A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V. ( 30083128 )	Yu X...Yan Y	2018
2	Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. ( 22703882 )	Beetz C....Auer-Grumbach M.	2012
3	Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. ( 23279345 )	Lee H.J....Chung K.W.	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

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Genes for Distal Hereditary Motor Neuropathy, Type V

Genes related to Distal Hereditary Motor Neuropathy, Type V (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GARS	Glycyl-TRNA Synthetase	Protein Coding	879.25	Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12690580 8541851 20301420 (more) 20301484 20301532 9879677 25168514 16769947 16534118 17663003 16769947 12690580
2	BSCL2	BSCL2, Seipin Lipid Droplet Biogenesis Associated	Protein Coding	467.52	Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)
3	REEP1	Receptor Accessory Protein 1	Protein Coding	367.52	Causative germline mutation ⁵⁹ GeneCards inferred via : Publications (show sections)

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Variations for Distal Hereditary Motor Neuropathy, Type V

ClinVar genetic disease variations for Distal Hereditary Motor Neuropathy, Type V:

⁶ (show all 26)

#	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	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.222+5C> T	single nucleotide variant	Benign	rs2072236	GRCh37	Chromosome 7, 30634764: 30634764
12	GARS	NM_002047.3(GARS): c.222+5C> T	single nucleotide variant	Benign	rs2072236	GRCh38	Chromosome 7, 30595148: 30595148
13	GARS	NM_002047.3(GARS): c.93G> C (p.Leu31=)	single nucleotide variant	Benign	rs2529438	GRCh37	Chromosome 7, 30634630: 30634630
14	GARS	NM_002047.3(GARS): c.93G> C (p.Leu31=)	single nucleotide variant	Benign	rs2529438	GRCh38	Chromosome 7, 30595014: 30595014
15	GARS	NM_002047.3(GARS): c.998A> T (p.Glu333Val)	single nucleotide variant	Likely pathogenic	rs863224873	GRCh38	Chromosome 7, 30612212: 30612212
16	GARS	NM_002047.3(GARS): c.998A> T (p.Glu333Val)	single nucleotide variant	Likely pathogenic	rs863224873	GRCh37	Chromosome 7, 30651828: 30651828
17	GARS	NM_002047.3(GARS): c.2042C> T (p.Pro681Leu)	single nucleotide variant	Uncertain significance	rs879254346	GRCh37	Chromosome 7, 30672001: 30672001
18	GARS	NM_002047.3(GARS): c.2042C> T (p.Pro681Leu)	single nucleotide variant	Uncertain significance	rs879254346	GRCh38	Chromosome 7, 30632385: 30632385
19	GARS	NM_002047.3(GARS): c.124C> G (p.Pro42Ala)	single nucleotide variant	Benign	rs1049402	GRCh37	Chromosome 7, 30634661: 30634661
20	GARS	NM_002047.3(GARS): c.124C> G (p.Pro42Ala)	single nucleotide variant	Benign	rs1049402	GRCh38	Chromosome 7, 30595045: 30595045
21	GARS	NM_002047.3(GARS): c.2095-6C> T	single nucleotide variant	Benign	rs2240401	GRCh38	Chromosome 7, 30633729: 30633729
22	GARS	NM_002047.3(GARS): c.2095-6C> T	single nucleotide variant	Benign	rs2240401	GRCh37	Chromosome 7, 30673345: 30673345
23	GARS	NM_002047.3(GARS): c.1415A> G (p.His472Arg)	single nucleotide variant	Pathogenic	rs1060502838	GRCh38	Chromosome 7, 30621448: 30621448
24	GARS	NM_002047.3(GARS): c.1415A> G (p.His472Arg)	single nucleotide variant	Pathogenic	rs1060502838	GRCh37	Chromosome 7, 30661064: 30661064
25	GARS	NM_002047.3(GARS): c.-45C> G	single nucleotide variant	not provided	rs903029869	GRCh37	Chromosome 7, 30634493: 30634493
26	GARS	NM_002047.3(GARS): c.-45C> G	single nucleotide variant	not provided	rs903029869	GRCh38	Chromosome 7, 30594877: 30594877

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Expression for Distal Hereditary Motor Neuropathy, Type V

Search GEO for disease gene expression data for Distal Hereditary Motor Neuropathy, Type V.

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Pathways for Distal Hereditary Motor Neuropathy, Type V

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GO Terms for Distal Hereditary Motor Neuropathy, Type V

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Distal Hereditary Motor Neuropathy, Type V (DHMN5)

Aliases & Classifications for Distal Hereditary Motor Neuropathy, Type V

MalaCards integrated aliases for Distal Hereditary Motor Neuropathy, Type V:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Distal Hereditary Motor Neuropathy, Type V

Related Diseases for Distal Hereditary Motor Neuropathy, Type V

Diseases in the Distal Hereditary Motor Neuropathies family:

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

Graphical network of the top 20 diseases related to Distal Hereditary Motor Neuropathy, Type V:

Symptoms & Phenotypes for Distal Hereditary Motor Neuropathy, Type V

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy, Type V

Genetic Tests for Distal Hereditary Motor Neuropathy, Type V

Genetic tests related to Distal Hereditary Motor Neuropathy, Type V:

Anatomical Context for Distal Hereditary Motor Neuropathy, Type V

MalaCards organs/tissues related to Distal Hereditary Motor Neuropathy, Type V:

Publications for Distal Hereditary Motor Neuropathy, Type V

Articles related to Distal Hereditary Motor Neuropathy, Type V:

Genes for Distal Hereditary Motor Neuropathy, Type V

Genes related to Distal Hereditary Motor Neuropathy, Type V (3 elite genes):

Variations for Distal Hereditary Motor Neuropathy, Type V

ClinVar genetic disease variations for Distal Hereditary Motor Neuropathy, Type V:

Expression for Distal Hereditary Motor Neuropathy, Type V

Pathways for Distal Hereditary Motor Neuropathy, Type V

GO Terms for Distal Hereditary Motor Neuropathy, Type V

Sources for Distal Hereditary Motor Neuropathy, Type V