HMN7B
MCID: NRP022
MIFTS: 25

Neuropathy, Distal Hereditary Motor, Type Viib (HMN7B) malady

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

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

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

Name: Neuropathy, Distal Hereditary Motor, Type Viib 54 13
Neuronopathy, Distal Hereditary Motor, 7b 66 29
Hmn Viib 24 66
Hmn7b 24 66
Distal Hereditary Motor Neuropathy with Vocal Cord Paralysis Type Viib 66
Neuronopathy, Distal Hereditary Motor, Type Viib 69
Distal Hereditary Motor Neuronopathy Type Viib 24
Distal Hereditary Motor Neuropathy Type Viib 66
Lower Motor Neuron Disease Dynactin Type 66
Progressive Lower Motor Neuron Disease 66
Hmn 7b 24
Dhmn7b 66
Plmnd 66

Characteristics:

HPO:

32
neuropathy, distal hereditary motor, type viib:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:



External Ids:

OMIM 54 607641
MedGen 40 C1843315
MeSH 42 D009134

Summaries for Neuropathy, Distal Hereditary Motor, Type Viib

UniProtKB/Swiss-Prot : 66 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 lower limb muscle weakness, facial palsy and hand muscle atrophy. An important gene associated with Neuropathy, Distal Hereditary Motor, Type Viib is DCTN1 (Dynactin Subunit 1). Affiliated tissues include spinal cord.

Description from OMIM: 607641

Related Diseases for Neuropathy, Distal Hereditary Motor, Type Viib

Graphical network of the top 20 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

Symptoms by clinical synopsis from OMIM:

607641

Clinical features from OMIM:

607641

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

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 lower limb muscle weakness 32 HP:0007340
2 facial palsy 32 HP:0010628
3 hand muscle atrophy 32 HP:0009130
4 vocal cord paralysis 32 HP:0001605
5 distal muscle weakness 32 HP:0002460
6 abnormal lower motor neuron morphology 32 HP:0002366
7 distal amyotrophy 32 HP:0003693
8 hand muscle weakness 32 HP:0030237

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


facial paresis

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

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

Genetic Tests for Neuropathy, Distal Hereditary Motor, Type Viib

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

id Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 7b 29
2 Distal Hereditary Motor Neuronopathy Type Viib 24 DCTN1

Anatomical Context for Neuropathy, Distal Hereditary Motor, Type Viib

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

39
Spinal Cord

Publications for Neuropathy, Distal Hereditary Motor, Type Viib

Variations for Neuropathy, Distal Hereditary Motor, Type Viib

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

66
id Symbol AA change Variation ID SNP ID
1 DCTN1 p.Gly59Ser VAR_015850 rs121909342

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DCTN1 NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs121909342 GRCh37 Chromosome 2, 74605231: 74605231

Expression for Neuropathy, Distal Hereditary Motor, Type Viib

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

Pathways for Neuropathy, Distal Hereditary Motor, Type Viib

GO Terms for Neuropathy, Distal Hereditary Motor, Type Viib

Sources for Neuropathy, Distal Hereditary Motor, Type Viib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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