MCID: NRN040
MIFTS: 26

Neuronopathy, Distal Hereditary Motor, Type Viib

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

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

MalaCards integrated aliases for Neuronopathy, Distal Hereditary Motor, Type Viib:

Name: Neuronopathy, Distal Hereditary Motor, Type Viib 57 73
Neuropathy, Distal Hereditary Motor, Type Viib 57 13
Distal Hereditary Motor Neuronopathy Type 7b 29 6
Hmn Viib 57 75
Dhmn7b 57 75
Hmn7b 57 75
Neuropathy, Distal Hereditary Motor, with Vocal Cord Paralysis, Type Viib 57
Distal Hereditary Motor Neuropathy with Vocal Cord Paralysis Type Viib 75
Neuropathy, Motor, Distal, Hereditary, Type Viib 40
Distal Hereditary Motor Neuropathy Type Viib 75
Lower Motor Neuron Disease, Dynactin Type 57
Neuronopathy, Distal Hereditary Motor, 7b 75
Lower Motor Neuron Disease Dynactin Type 75
Progressive Lower Motor Neuron Disease 75
Plmnd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset in early adulthood


HPO:

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


Classifications:



External Ids:

OMIM 57 607641
MedGen 42 C1843315
MeSH 44 D009134
UMLS 73 C1843315

Summaries for Neuronopathy, Distal Hereditary Motor, Type Viib

UniProtKB/Swiss-Prot : 75 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 : Neuronopathy, Distal Hereditary Motor, Type Viib, also known as neuropathy, distal hereditary motor, type viib, is related to spinal muscular atrophy, jokela type and perry syndrome, and has symptoms including facial paresis An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Viib is DCTN1 (Dynactin Subunit 1). Affiliated tissues include spinal cord, and related phenotypes are vocal cord paralysis and abnormal lower motor neuron morphology

Description from OMIM: 607641

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Viib

Graphical network of the top 20 diseases related to Neuronopathy, Distal Hereditary Motor, Type Viib:



Diseases related to Neuronopathy, Distal Hereditary Motor, Type Viib

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hand muscle atrophy
hand muscle weakness
facial weakness
breathing difficulty due to vocal cord paralysis
lower motor neuron disease
more
Respiratory Larynx:
breathing difficulty due to vocal cord paralysis


Clinical features from OMIM:

607641

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

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

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


facial paresis

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

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

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Viib

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

# Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 7b 29 DCTN1

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Viib

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

41
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Viib

Articles related to Neuronopathy, Distal Hereditary Motor, Type Viib:

# Title Authors Year
1
Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene. ( 24838187 )
2014
2
Granulomatous myositis mimicking slowly progressive lower motor neuron disease. ( 18700190 )
2008
3
The rare G93D mutation causes a slowly progressing lower motor neuron disease. ( 18273717 )
2008

Variations for Neuronopathy, Distal Hereditary Motor, Type Viib

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

75
# Symbol AA change Variation ID SNP ID
1 DCTN1 p.Gly59Ser VAR_015850 rs121909342

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

6
(show top 50) (show all 188)
# 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
2 DCTN1 NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs121909342 GRCh38 Chromosome 2, 74378104: 74378104
3 DCTN1 NM_001190836.1(DCTN1): c.3620C> T (p.Thr1207Ile) single nucleotide variant risk factor rs72466496 GRCh37 Chromosome 2, 74588717: 74588717
4 DCTN1 NM_001190836.1(DCTN1): c.3620C> T (p.Thr1207Ile) single nucleotide variant risk factor rs72466496 GRCh38 Chromosome 2, 74361590: 74361590
5 DCTN1 NM_004082.4(DCTN1): c.2448A> G (p.Ala816=) single nucleotide variant Benign/Likely benign rs1130484 GRCh38 Chromosome 2, 74366801: 74366801
6 DCTN1 NM_004082.4(DCTN1): c.2448A> G (p.Ala816=) single nucleotide variant Benign/Likely benign rs1130484 GRCh37 Chromosome 2, 74593928: 74593928
7 DCTN1 NM_004082.4(DCTN1): c.1605A> G (p.Thr535=) single nucleotide variant Benign rs13429423 GRCh37 Chromosome 2, 74596321: 74596321
8 DCTN1 NM_004082.4(DCTN1): c.1605A> G (p.Thr535=) single nucleotide variant Benign rs13429423 GRCh38 Chromosome 2, 74369194: 74369194
9 DCTN1 NM_004082.4(DCTN1): c.1484G> A (p.Arg495Gln) single nucleotide variant Benign/Likely benign rs17721059 GRCh38 Chromosome 2, 74369400: 74369400
10 DCTN1 NM_004082.4(DCTN1): c.1484G> A (p.Arg495Gln) single nucleotide variant Benign/Likely benign rs17721059 GRCh37 Chromosome 2, 74596527: 74596527
11 DCTN1 NM_004082.4(DCTN1): c.1288-3C> T single nucleotide variant Benign/Likely benign rs72466490 GRCh38 Chromosome 2, 74370072: 74370072
12 DCTN1 NM_004082.4(DCTN1): c.1288-3C> T single nucleotide variant Benign/Likely benign rs72466490 GRCh37 Chromosome 2, 74597199: 74597199
13 DCTN1 NM_004082.4(DCTN1): c.859C> A (p.Leu287Met) single nucleotide variant Benign rs13420401 GRCh38 Chromosome 2, 74370810: 74370810
14 DCTN1 NM_004082.4(DCTN1): c.859C> A (p.Leu287Met) single nucleotide variant Benign rs13420401 GRCh37 Chromosome 2, 74597937: 74597937
15 DCTN1 NM_004082.4(DCTN1): c.558G> A (p.Pro186=) single nucleotide variant Likely benign rs201078804 GRCh38 Chromosome 2, 74371624: 74371624
16 DCTN1 NM_004082.4(DCTN1): c.558G> A (p.Pro186=) single nucleotide variant Likely benign rs201078804 GRCh37 Chromosome 2, 74598751: 74598751
17 DCTN1 NM_004082.4(DCTN1): c.167A> G (p.Lys56Arg) single nucleotide variant Uncertain significance rs566433112 GRCh38 Chromosome 2, 74378112: 74378112
18 DCTN1 NM_004082.4(DCTN1): c.167A> G (p.Lys56Arg) single nucleotide variant Uncertain significance rs566433112 GRCh37 Chromosome 2, 74605239: 74605239
19 DCTN1 NM_004082.4(DCTN1): c.3529+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72466494 GRCh37 Chromosome 2, 74590116: 74590116
20 DCTN1 NM_004082.4(DCTN1): c.3529+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72466494 GRCh38 Chromosome 2, 74362989: 74362989
21 DCTN1 NM_004082.4(DCTN1): c.1617A> G (p.Glu539=) single nucleotide variant Benign rs139061654 GRCh37 Chromosome 2, 74596309: 74596309
22 DCTN1 NM_004082.4(DCTN1): c.1617A> G (p.Glu539=) single nucleotide variant Benign rs139061654 GRCh38 Chromosome 2, 74369182: 74369182
23 DCTN1 NM_004082.4(DCTN1): c.3594C> T (p.Thr1198=) single nucleotide variant Benign/Likely benign rs115689748 GRCh38 Chromosome 2, 74362665: 74362665
24 DCTN1 NM_004082.4(DCTN1): c.3594C> T (p.Thr1198=) single nucleotide variant Benign/Likely benign rs115689748 GRCh37 Chromosome 2, 74589792: 74589792
25 DCTN1 NM_004082.4(DCTN1): c.2213A> G (p.Gln738Arg) single nucleotide variant Benign/Likely benign rs143800457 GRCh38 Chromosome 2, 74367392: 74367392
26 DCTN1 NM_004082.4(DCTN1): c.2213A> G (p.Gln738Arg) single nucleotide variant Benign/Likely benign rs143800457 GRCh37 Chromosome 2, 74594519: 74594519
27 DCTN1 NM_004082.4(DCTN1): c.586A> G (p.Ile196Val) single nucleotide variant Benign/Likely benign rs55862001 GRCh37 Chromosome 2, 74598723: 74598723
28 DCTN1 NM_004082.4(DCTN1): c.586A> G (p.Ile196Val) single nucleotide variant Benign/Likely benign rs55862001 GRCh38 Chromosome 2, 74371596: 74371596
29 DCTN1 NM_004082.4(DCTN1): c.3490A> G (p.Thr1164Ala) single nucleotide variant Benign/Likely benign rs72466493 GRCh38 Chromosome 2, 74363033: 74363033
30 DCTN1 NM_004082.4(DCTN1): c.3490A> G (p.Thr1164Ala) single nucleotide variant Benign/Likely benign rs72466493 GRCh37 Chromosome 2, 74590160: 74590160
31 DCTN1 NM_004082.4(DCTN1): c.3146G> A (p.Arg1049Gln) single nucleotide variant Likely benign rs72659383 GRCh38 Chromosome 2, 74365125: 74365125
32 DCTN1 NM_004082.4(DCTN1): c.3146G> A (p.Arg1049Gln) single nucleotide variant Likely benign rs72659383 GRCh37 Chromosome 2, 74592252: 74592252
33 DCTN1 NM_004082.4(DCTN1): c.999C> G (p.Asp333Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs200952455 GRCh37 Chromosome 2, 74597797: 74597797
34 DCTN1 NM_004082.4(DCTN1): c.999C> G (p.Asp333Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs200952455 GRCh38 Chromosome 2, 74370670: 74370670
35 DCTN1 NM_004082.4(DCTN1): c.60G> A (p.Ala20=) single nucleotide variant Benign/Likely benign rs150204862 GRCh37 Chromosome 2, 74605346: 74605346
36 DCTN1 NM_004082.4(DCTN1): c.60G> A (p.Ala20=) single nucleotide variant Benign/Likely benign rs150204862 GRCh38 Chromosome 2, 74378219: 74378219
37 DCTN1 NM_004082.4(DCTN1): c.3782G> A (p.Arg1261Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs553822174 GRCh37 Chromosome 2, 74588681: 74588681
38 DCTN1 NM_004082.4(DCTN1): c.3782G> A (p.Arg1261Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs553822174 GRCh38 Chromosome 2, 74361554: 74361554
39 DCTN1 NM_004082.4(DCTN1): c.3498G> A (p.Thr1166=) single nucleotide variant Benign/Likely benign rs142030960 GRCh38 Chromosome 2, 74363025: 74363025
40 DCTN1 NM_004082.4(DCTN1): c.3498G> A (p.Thr1166=) single nucleotide variant Benign/Likely benign rs142030960 GRCh37 Chromosome 2, 74590152: 74590152
41 DCTN1 NM_004082.4(DCTN1): c.2278A> G (p.Met760Val) single nucleotide variant Conflicting interpretations of pathogenicity rs754780894 GRCh38 Chromosome 2, 74367083: 74367083
42 DCTN1 NM_004082.4(DCTN1): c.2278A> G (p.Met760Val) single nucleotide variant Conflicting interpretations of pathogenicity rs754780894 GRCh37 Chromosome 2, 74594210: 74594210
43 DCTN1 NM_004082.4(DCTN1): c.3128G> A (p.Arg1043His) single nucleotide variant Uncertain significance rs776489779 GRCh37 Chromosome 2, 74592270: 74592270
44 DCTN1 NM_004082.4(DCTN1): c.3128G> A (p.Arg1043His) single nucleotide variant Uncertain significance rs776489779 GRCh38 Chromosome 2, 74365143: 74365143
45 DCTN1 NM_004082.4(DCTN1): c.843+5G> T single nucleotide variant Uncertain significance rs757238618 GRCh37 Chromosome 2, 74598101: 74598101
46 DCTN1 NM_004082.4(DCTN1): c.843+5G> T single nucleotide variant Uncertain significance rs757238618 GRCh38 Chromosome 2, 74370974: 74370974
47 DCTN1 NM_004082.4(DCTN1): c.837G> A (p.Ala279=) single nucleotide variant Likely benign rs72466489 GRCh38 Chromosome 2, 74370985: 74370985
48 DCTN1 NM_004082.4(DCTN1): c.837G> A (p.Ala279=) single nucleotide variant Likely benign rs72466489 GRCh37 Chromosome 2, 74598112: 74598112
49 DCTN1 NM_004082.4(DCTN1): c.442C> T (p.Arg148Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs148810193 GRCh37 Chromosome 2, 74600066: 74600066
50 DCTN1 NM_004082.4(DCTN1): c.442C> T (p.Arg148Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs148810193 GRCh38 Chromosome 2, 74372939: 74372939

Expression for Neuronopathy, Distal Hereditary Motor, Type Viib

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GO Terms for Neuronopathy, Distal Hereditary Motor, Type Viib

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