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 50 12
Neuronopathy, Distal Hereditary Motor, 7b 68 25
Hmn Viib 23 68
Hmn7b 23 68
Distal Hereditary Motor Neuropathy with Vocal Cord Paralysis Type Viib 68
Neuronopathy, Distal Hereditary Motor, Type Viib 66
Distal Hereditary Motor Neuronopathy Type Viib 23
 
Distal Hereditary Motor Neuropathy Type Viib 68
Lower Motor Neuron Disease Dynactin Type 68
Progressive Lower Motor Neuron Disease 68
Hmn 7b 23
Dhmn7b 68
Plmnd 68

Characteristics:

HPO:

62
neuropathy, distal hereditary motor, type viib:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression


Classifications:



External Ids:

OMIM50 607641
MedGen35 C1843315
MeSH37 D009134

Summaries for Neuropathy, Distal Hereditary Motor, Type Viib

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UniProtKB/Swiss-Prot:68 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 motor neuron disease and neuronitis, and has symptoms including facial paresis, facial paresis and vocal cord paralysis. An important gene associated with Neuropathy, Distal Hereditary Motor, Type Viib is DCTN1 (Dynactin Subunit 1). Affiliated tissues include spinal cord.

Description from OMIM:50 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 for Neuropathy, Distal Hereditary Motor, Type Viib

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Symptoms by clinical synopsis from OMIM:

607641

Clinical features from OMIM:

607641

HPO human phenotypes related to Neuropathy, Distal Hereditary Motor, Type Viib:

(show all 8)
id Description Frequency HPO Source Accession
1 vocal cord paralysis HP:0001605
2 abnormal lower motor neuron morphology HP:0002366
3 distal muscle weakness HP:0002460
4 distal amyotrophy HP:0003693
5 lower limb muscle weakness HP:0007340
6 hand muscle atrophy HP:0009130
7 facial palsy HP:0010628
8 hand muscle weakness 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 7b25
2 Distal Hereditary Motor Neuronopathy Type Viib23 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:

34
Spinal cord

Animal Models for Neuropathy, Distal Hereditary Motor, Type Viib or affiliated genes

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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:

68
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)single nucleotide variantPathogenicrs121909342GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet