X-Linked Distal Hereditary Motor Neuropathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for X-Linked Distal Hereditary Motor Neuropathy

MalaCards integrated aliases for X-Linked Distal Hereditary Motor Neuropathy:

Name: X-Linked Distal Hereditary Motor Neuropathy ⁵⁸

X-Linked Distal Spinal Muscular Atrophy ⁵⁸

X-Linked Dhmn ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Spinal muscular atrophy and related syndromes

Motor neuron disease

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G12.2

Orphanet ⁵⁸ ORPHA404538

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Summaries for X-Linked Distal Hereditary Motor Neuropathy

MalaCards based summary : X-Linked Distal Hereditary Motor Neuropathy, also known as x-linked distal spinal muscular atrophy, is related to spinal muscular atrophy, distal, x-linked 3 and neuropathy. An important gene associated with X-Linked Distal Hereditary Motor Neuropathy is ATP7A (ATPase Copper Transporting Alpha).

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Related Diseases for X-Linked Distal Hereditary Motor Neuropathy

Diseases related to X-Linked Distal Hereditary Motor Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score
1	spinal muscular atrophy, distal, x-linked 3	11.6
2	neuropathy	10.4
3	occipital horn syndrome	10.3
4	menkes disease	10.3
5	atp7a-related copper transport disorders	10.3
6	spinal muscular atrophy, x-linked 2	10.2
7	charcot-marie-tooth disease, x-linked dominant, 1	10.2
8	spinal muscular atrophy	10.2
9	muscular atrophy	10.2
10	distal hereditary motor neuropathies	10.2
11	charcot-marie-tooth hereditary neuropathy	10.2
12	giant axonal neuropathy	10.2

Graphical network of the top 20 diseases related to X-Linked Distal Hereditary Motor Neuropathy:

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Symptoms & Phenotypes for X-Linked Distal Hereditary Motor Neuropathy

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Drugs & Therapeutics for X-Linked Distal Hereditary Motor Neuropathy

Search Clinical Trials , NIH Clinical Center for X-Linked Distal Hereditary Motor Neuropathy

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Genetic Tests for X-Linked Distal Hereditary Motor Neuropathy

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Anatomical Context for X-Linked Distal Hereditary Motor Neuropathy

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Publications for X-Linked Distal Hereditary Motor Neuropathy

Articles related to X-Linked Distal Hereditary Motor Neuropathy:

#	Title	Authors	PMID	Year
1	ATP7A mutation with occipital horns and distal motor neuropathy: A continuum. ⁶¹	Fradin M...Pasquier L	33137485	2020
2	ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene. ⁶¹	Mhaske A...Binukumar BK	32994893	2020
3	Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs. ⁶¹	Perez-Siles G...Kennerson ML	31969342	2020
4	Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). ⁶¹	Perez-Siles G...Kennerson ML	27293072	2016
5	Inborn errors of copper metabolism. ⁶¹	Kaler SG	23622398	2013
6	Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. ⁶¹	Kennerson ML...Garbern JY	20170900	2010
7	X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. ⁶¹	Kennerson M...Garbern J	19153371	2009
8	Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. ⁶¹	Poloschek CM...Berger W	18487380	2008

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Genes for X-Linked Distal Hereditary Motor Neuropathy

Genes related to X-Linked Distal Hereditary Motor Neuropathy (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	8.14	GeneCards inferred via : Publications (show sections)

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Variations for X-Linked Distal Hereditary Motor Neuropathy

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Expression for X-Linked Distal Hereditary Motor Neuropathy

Search GEO for disease gene expression data for X-Linked Distal Hereditary Motor Neuropathy.

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Pathways for X-Linked Distal Hereditary Motor Neuropathy

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GO Terms for X-Linked Distal Hereditary Motor Neuropathy

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Sources for X-Linked Distal Hereditary Motor Neuropathy

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