Neuronopathy, Distal Hereditary Motor, Type Va disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

Neuronopathy, Distal Hereditary Motor, Type V ⁵⁷ ⁷³

Dhmn Va ⁵⁷ ⁷⁵

Hmn Va ⁵⁷ ⁷⁵

Dhmn5a ⁵⁷ ⁷⁵

Dsmava ⁵⁷ ⁷⁵

Hmn5a ⁵⁷ ⁷⁵

Dsmav ⁵⁷ ⁷⁵

Spinal Muscular Atrophy, Distal, with Upper Limb Predominance ⁵⁷

Spinal Muscular Atrophy Distal with Upper Limb Predominance ⁷⁵

Neuropathy, Distal Hereditary Motor, Type Va; Dhmn5a ⁵⁷

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 Va ⁷⁵

Distal Hereditary Motor Neuropathy Type Va ⁷⁵

Distal Hereditary Motor Neuropathy Type V ⁷⁵

Neuronopathy, Distal Hereditary Motor, 5a ⁷⁵

Spinal Muscular Atrophy, Distal, Type Va ⁵⁷

Spinal Muscular Atrophy, Distal, Type V ⁵⁷

Spinal Muscular Atrophy Distal Type Va ⁷⁵

Spinal Muscular Atrophy Distal Type V ⁷⁵

Dhmn V ⁷⁵

Dsma-V ⁷⁵

Hmn V ⁷⁵

Dhmn5 ⁷⁵

Hmn5 ⁵⁷

Characteristics:

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 600794

MedGen ⁴² C1833308

MeSH ⁴⁴ D009134

SNOMED-CT via HPO ⁶⁹ 263681008 86854008 205091006 more

UMLS ⁷³ C1833308

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Summaries for Neuronopathy, Distal Hereditary Motor, Type Va

UniProtKB/Swiss-Prot : ⁷⁵ 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.

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Va, also known as neuronopathy, distal hereditary motor, type v, is related to distal hereditary motor neuropathy, type v and charcot-marie-tooth disease. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Va is GARS (Glycyl-TRNA Synthetase). Affiliated tissues include spinal cord, and related phenotypes are hyperreflexia and pes cavus

Description from OMIM: 600794

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Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Va

Diseases in the Neuronopathy, Distal Hereditary Motor, Type Viii family:

Neuronopathy, Distal Hereditary Motor, Type Viia	Neuronopathy, Distal Hereditary Motor, Type Iia
Neuronopathy, Distal Hereditary Motor, Type I	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

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

#	Related Disease	Score	Top Affiliating Genes
1	distal hereditary motor neuropathy, type v	31.0	BSCL2 GARS
2	charcot-marie-tooth disease	28.5	BSCL2 GARS
3	charcot-marie-tooth disease, axonal, type 2d	10.0
4	spinal muscular atrophy	10.0
5	tooth disease	10.0
6	muscular atrophy	10.0
7	distal hereditary motor neuropathies	10.0
8	charcot-marie-tooth disease, axonal, type 2e	9.2	BSCL2 GARS

Graphical network of the top 20 diseases related to Neuronopathy, Distal Hereditary Motor, Type Va:

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Symptoms & Phenotypes for Neuronopathy, Distal Hereditary Motor, Type Va

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
distal limb muscle weakness due to peripheral neuropathy
more

Skeletal Feet:
pes cavus in some
pes planus in some
hammertoes in some

Clinical features from OMIM:

600794

Human phenotypes related to Neuronopathy, Distal Hereditary Motor, Type Va:

³² (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	hyperreflexia ³²	occasional (7.5%)	HP:0001347
2	pes cavus ³²	occasional (7.5%)	HP:0001761
3	pes planus ³²	occasional (7.5%)	HP:0001763
4	hammertoe ³²	occasional (7.5%)	HP:0001765
5	distal muscle weakness ³²		HP:0002460
6	first dorsal interossei muscle weakness ³²		HP:0003392
7	thenar muscle atrophy ³²		HP:0003393
8	first dorsal interossei muscle atrophy ³²		HP:0003426
9	thenar muscle weakness ³²		HP:0003427
10	cold-induced hand cramps ³²		HP:0003435
11	upper limb muscle weakness ³²		HP:0003484
12	distal amyotrophy ³²		HP:0003693

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

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

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Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Va

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Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Va

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

⁴¹

Spinal Cord

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Publications for Neuronopathy, Distal Hereditary Motor, Type Va

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

#	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 Neuronopathy, Distal Hereditary Motor, Type Va

Genes related to Neuronopathy, Distal Hereditary Motor, Type Va (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GARS	Glycyl-TRNA Synthetase	Protein Coding	1200	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵	12690580 9879677 25168514 (more) 20301420 20301484 16769947 16534118 8541851
2	BSCL2	BSCL2, Seipin Lipid Droplet Biogenesis Associated	Protein Coding	1200	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵	14981520 5964029 15732094 (more) 16427281 19396477 23553728 1674639 20301420 20301484

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Variations for Neuronopathy, Distal Hereditary Motor, Type Va

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

⁷⁵

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

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

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 Neuronopathy, Distal Hereditary Motor, Type Va

Search GEO for disease gene expression data for Neuronopathy, Distal Hereditary Motor, Type Va.

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Pathways for Neuronopathy, Distal Hereditary Motor, Type Va

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GO Terms for Neuronopathy, Distal Hereditary Motor, Type Va

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