MCID: NRP022
MIFTS: 25

Neuropathy, Distal Hereditary Motor, Type Viib malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Neuropathy, Distal Hereditary Motor, Type Viib

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Aliases & Descriptions for Neuropathy, Distal Hereditary Motor, Type Viib:

Name: Neuropathy, Distal Hereditary Motor, Type Viib 52 12
Neuronopathy, Distal Hereditary Motor, 7b 70 27
Hmn Viib 24 70
Hmn7b 24 70
Distal Hereditary Motor Neuropathy with Vocal Cord Paralysis Type Viib 70
Neuronopathy, Distal Hereditary Motor, Type Viib 68
Distal Hereditary Motor Neuronopathy Type Viib 24
 
Distal Hereditary Motor Neuropathy Type Viib 70
Lower Motor Neuron Disease Dynactin Type 70
Progressive Lower Motor Neuron Disease 70
Hmn 7b 24
Dhmn7b 70
Plmnd 70

Characteristics:

HPO:

64
neuropathy, distal hereditary motor, type viib:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression

Classifications:



External Ids:

OMIM52 607641
MedGen37 C1843315
MeSH39 D009134

Summaries for Neuropathy, Distal Hereditary Motor, Type Viib

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UniProtKB/Swiss-Prot:70 Neuronopathy, distal hereditary motor, 7B: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders 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: Neuropathy, Distal Hereditary Motor, Type Viib, also known as neuronopathy, distal hereditary motor, 7b, is related to neuronopathy, distal hereditary motor, type i and spinal muscular atrophy, jokela type, and has symptoms including vocal cord paralysis, abnormal lower motor neuron morphology and distal muscle weakness. An important gene associated with Neuropathy, Distal Hereditary Motor, Type Viib is DCTN1 (Dynactin Subunit 1). Affiliated tissues include spinal cord.

Description from OMIM:52 607641

Related Diseases for Neuropathy, Distal Hereditary Motor, Type Viib

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Graphical network of diseases related to Neuropathy, Distal Hereditary Motor, Type Viib:



Diseases related to neuropathy, distal hereditary motor, type viib

Symptoms & Phenotypes for Neuropathy, Distal Hereditary Motor, Type Viib

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Symptoms by clinical synopsis from OMIM:

607641

Clinical features from OMIM:

607641

Human phenotypes related to Neuropathy, Distal Hereditary Motor, Type Viib:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 vocal cord paralysis64 HP:0001605
2 abnormal lower motor neuron morphology64 HP:0002366
3 distal muscle weakness64 HP:0002460
4 distal amyotrophy64 HP:0003693
5 lower limb muscle weakness64 HP:0007340
6 hand muscle atrophy64 HP:0009130
7 facial palsy64 HP:0010628
8 hand muscle weakness64 HP:0030237

UMLS symptoms related to Neuropathy, Distal Hereditary Motor, Type Viib:


facial paresis

Drugs & Therapeutics for Neuropathy, Distal Hereditary Motor, Type Viib

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Neuropathy, Distal Hereditary Motor, Type Viib

Genetic Tests for Neuropathy, Distal Hereditary Motor, Type Viib

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

id Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 7b27
2 Distal Hereditary Motor Neuronopathy Type Viib24 DCTN1

Anatomical Context for Neuropathy, Distal Hereditary Motor, Type Viib

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

36
Spinal cord

Publications for Neuropathy, Distal Hereditary Motor, Type Viib

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Variations for Neuropathy, Distal Hereditary Motor, Type Viib

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UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Distal Hereditary Motor, Type Viib:

70
id Symbol AA change Variation ID SNP ID
1DCTN1p.Gly59SerVAR_015850rs121909342

Clinvar genetic disease variations for Neuropathy, Distal Hereditary Motor, Type Viib:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DCTN1NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser)SNVPathogenicrs121909342GRCh37Chr 2, 74605231: 74605231

Expression for genes affiliated with Neuropathy, Distal Hereditary Motor, Type Viib

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

Pathways for genes affiliated with Neuropathy, Distal Hereditary Motor, Type Viib

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GO Terms for genes affiliated with Neuropathy, Distal Hereditary Motor, Type Viib

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Sources for Neuropathy, Distal Hereditary Motor, Type Viib

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet