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 spinal muscular atrophy, distal, autosomal recessive, 5. 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:

#	Related Disease	Score	Top Affiliating Genes
1	neuronopathy, distal hereditary motor, type va	31.4	BSCL2 GARS
2	spinal muscular atrophy, distal, autosomal recessive, 5	11.3
3	neuropathy	10.3
4	distal hereditary motor neuropathies	10.3
5	spinal muscular atrophy	10.3
6	muscular atrophy	10.3
7	spastic paraplegia 17, autosomal dominant	10.0
8	charcot-marie-tooth disease, axonal, type 2e	9.2	BSCL2 GARS
9	hereditary spastic paraplegia	9.2	BSCL2 REEP1
10	charcot-marie-tooth disease	8.9	BSCL2 GARS

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	Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. ( 22703882 )	Beetz C....Auer-Grumbach M.	2012
2	Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. ( 23279345 )	Lee H.J....Chung K.W.	2012
3	N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. ( 20598714 )	RakoceviA8-StojanoviA8 V....De Jonghe P.	2010
4	The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. ( 16769947 )	Dubourg O....Leguern E.	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	879.33	Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	17663003 16769947 12690580
2	BSCL2	BSCL2, Seipin Lipid Droplet Biogenesis Associated	Protein Coding	867.59	Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)
3	REEP1	Receptor Accessory Protein 1	Protein Coding	367.59	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 18)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BSCL2	NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)	single nucleotide variant	Pathogenic	rs137852972	GRCh37	Chromosome 11, 62469971: 62469971
2	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.998A> T (p.Glu333Val)	single nucleotide variant	Likely pathogenic	rs863224873	GRCh38	Chromosome 7, 30612212: 30612212
12	GARS	NM_002047.3(GARS): c.998A> T (p.Glu333Val)	single nucleotide variant	Likely pathogenic	rs863224873	GRCh37	Chromosome 7, 30651828: 30651828
13	GARS	NM_002047.3(GARS): c.124C> G (p.Pro42Ala)	single nucleotide variant	Benign	rs1049402	GRCh37	Chromosome 7, 30634661: 30634661
14	GARS	NM_002047.3(GARS): c.124C> G (p.Pro42Ala)	single nucleotide variant	Benign	rs1049402	GRCh38	Chromosome 7, 30595045: 30595045
15	GARS	NM_002047.3(GARS): c.2095-6C> T	single nucleotide variant	Benign	rs2240401	GRCh38	Chromosome 7, 30633729: 30633729
16	GARS	NM_002047.3(GARS): c.2095-6C> T	single nucleotide variant	Benign	rs2240401	GRCh37	Chromosome 7, 30673345: 30673345
17	GARS	NM_002047.3(GARS): c.-45C> G	single nucleotide variant	not provided	rs903029869	GRCh37	Chromosome 7, 30634493: 30634493
18	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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