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

About this section

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

Name: Neuropathy, Distal Hereditary Motor, Type Viib 49 11
Neuronopathy, Distal Hereditary Motor, 7b 67 24
Hmn Viib 22 67
Hmn7b 22 67
Distal Hereditary Motor Neuropathy with Vocal Cord Paralysis Type Viib 67
Neuronopathy, Distal Hereditary Motor, Type Viib 65
Distal Hereditary Motor Neuronopathy Type Viib 22
 
Distal Hereditary Motor Neuropathy Type Viib 67
Lower Motor Neuron Disease Dynactin Type 67
Progressive Lower Motor Neuron Disease 67
Hmn 7b 22
Dhmn7b 67
Plmnd 67

Characteristics:

HPO:

61
neuropathy, distal hereditary motor, type viib:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression


Classifications:



External Ids:

OMIM49 607641
MedGen34 C1843315
MeSH36 D009134
UMLS65 C1843315

Summaries for Neuropathy, Distal Hereditary Motor, Type Viib

About this section
UniProtKB/Swiss-Prot:67 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 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:49 607641

Related Diseases for Neuropathy, Distal Hereditary Motor, Type Viib

About this section

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

About this section

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

About this section

Interventional clinical trials:

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

Genetic Tests for Neuropathy, Distal Hereditary Motor, Type Viib

About this section

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

id Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type Viib22 DCTN1

Anatomical Context for Neuropathy, Distal Hereditary Motor, Type Viib

About this section

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

33
Spinal cord

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

About this section

Publications for Neuropathy, Distal Hereditary Motor, Type Viib

About this section

Variations for Neuropathy, Distal Hereditary Motor, Type Viib

About this section

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

67
id Symbol AA change Variation ID SNP ID
1DCTN1p.Gly59SerVAR_015850

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

About this section
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

About this section

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

About this section

Sources for Neuropathy, Distal Hereditary Motor, Type Viib

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet