Distal Hereditary Motor Neuropathy Type 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Distal Hereditary Motor Neuropathy Type 7

MalaCards integrated aliases for Distal Hereditary Motor Neuropathy Type 7:

Name: Distal Hereditary Motor Neuropathy Type 7 ⁵⁸

Distal Spinal Muscular Atrophy with Vocal Cord Paralysis ⁵⁸

Dhmn7 ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

distal hereditary motor neuropathy type 7
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: 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 ORPHA139589

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Summaries for Distal Hereditary Motor Neuropathy Type 7

MalaCards based summary : Distal Hereditary Motor Neuropathy Type 7, also known as distal spinal muscular atrophy with vocal cord paralysis, is related to muscular atrophy and neuronopathy, distal hereditary motor, type viia. An important gene associated with Distal Hereditary Motor Neuropathy Type 7 is DCTN1 (Dynactin Subunit 1).

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Related Diseases for Distal Hereditary Motor Neuropathy Type 7

Diseases in the Distal Hereditary Motor Neuropathies family:

Distal Hereditary Motor Neuropathy Type 7

Autosomal Recessive Distal Hereditary Motor Neuropathy

Diseases related to Distal Hereditary Motor Neuropathy Type 7 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	muscular atrophy	30.0	SLC5A7 DCTN1
2	neuronopathy, distal hereditary motor, type viia	11.5
3	neuronopathy, distal hereditary motor, type viib	11.5
4	distal hereditary motor neuronopathy type 7	11.3
5	spinal muscular atrophy	10.5
6	charcot-marie-tooth hereditary neuropathy	10.5
7	oculopharyngeal muscular dystrophy	10.3
8	distal myopathy with vocal cord weakness	10.3
9	charcot-marie-tooth disease	9.4	SLC5A7 DCTN1
10	amyotrophic lateral sclerosis 1	9.2	SLC5A7 DCTN1

Graphical network of the top 20 diseases related to Distal Hereditary Motor Neuropathy Type 7:

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Symptoms & Phenotypes for Distal Hereditary Motor Neuropathy Type 7

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Drugs & Therapeutics for Distal Hereditary Motor Neuropathy Type 7

Search Clinical Trials , NIH Clinical Center for Distal Hereditary Motor Neuropathy Type 7

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Genetic Tests for Distal Hereditary Motor Neuropathy Type 7

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Anatomical Context for Distal Hereditary Motor Neuropathy Type 7

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Publications for Distal Hereditary Motor Neuropathy Type 7

Articles related to Distal Hereditary Motor Neuropathy Type 7:

#	Title	Authors	PMID	Year
1	Hereditary distal spinal muscular atrophy with vocal cord paralysis. ⁶¹ ⁶	Young ID...Harper PS	7420092	1980
2	Defective presynaptic choline transport underlies hereditary motor neuropathy. ⁶	Barwick KE...Crosby AH	23141292	2012
3	Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. ⁶	Moore JK...Cooper JA	19279216	2009
4	A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. ⁶	Levy JR...Holzbaur EL	16505168	2006
5	Mutant dynactin in motor neuron disease. ⁶	Puls I...Fischbeck KH	12627231	2003
6	Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. ⁶	LaMonte BH...Holzbaur EL	12062019	2002
7	Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. ⁶	McEntagart M...Rahman N	11294660	2001
8	Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. ⁶¹	Ingram G...Morris HR	26786006	2016
9	Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31. ⁶¹	McEntagart M...Rahman N	10922394	2000
10	Distal spinal muscular atrophy with vocal cord paralysis. ⁶¹	Pridmore C...Harding AE	1552559	1992

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Genes for Distal Hereditary Motor Neuropathy Type 7

Genes related to Distal Hereditary Motor Neuropathy Type 7 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DCTN1	Dynactin Subunit 1	Protein Coding	350	Causative germline mutation ⁵⁸
2	SLC5A7	Solute Carrier Family 5 Member 7	Protein Coding	350	Causative germline mutation ⁵⁸

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Variations for Distal Hereditary Motor Neuropathy Type 7

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Expression for Distal Hereditary Motor Neuropathy Type 7

Search GEO for disease gene expression data for Distal Hereditary Motor Neuropathy Type 7.

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Pathways for Distal Hereditary Motor Neuropathy Type 7

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GO Terms for Distal Hereditary Motor Neuropathy Type 7

Cellular components related to Distal Hereditary Motor Neuropathy Type 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	neuronal cell body	GO:0043025	8.96	SLC5A7 DCTN1
2	axon	GO:0030424	8.62	SLC5A7 DCTN1

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Sources for Distal Hereditary Motor Neuropathy Type 7

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Distal Hereditary Motor Neuropathy Type 7 (DHMN7)

Aliases & Classifications for Distal Hereditary Motor Neuropathy Type 7

MalaCards integrated aliases for Distal Hereditary Motor Neuropathy Type 7:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Distal Hereditary Motor Neuropathy Type 7

Related Diseases for Distal Hereditary Motor Neuropathy Type 7

Diseases in the Distal Hereditary Motor Neuropathies family:

Diseases related to Distal Hereditary Motor Neuropathy Type 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Distal Hereditary Motor Neuropathy Type 7:

Symptoms & Phenotypes for Distal Hereditary Motor Neuropathy Type 7

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy Type 7

Genetic Tests for Distal Hereditary Motor Neuropathy Type 7

Anatomical Context for Distal Hereditary Motor Neuropathy Type 7

Publications for Distal Hereditary Motor Neuropathy Type 7

Articles related to Distal Hereditary Motor Neuropathy Type 7:

Genes for Distal Hereditary Motor Neuropathy Type 7

Genes related to Distal Hereditary Motor Neuropathy Type 7 (2 elite genes):

Variations for Distal Hereditary Motor Neuropathy Type 7

Expression for Distal Hereditary Motor Neuropathy Type 7

Pathways for Distal Hereditary Motor Neuropathy Type 7

GO Terms for Distal Hereditary Motor Neuropathy Type 7

Cellular components related to Distal Hereditary Motor Neuropathy Type 7 according to GeneCards Suite gene sharing:

Sources for Distal Hereditary Motor Neuropathy Type 7