MCID: DST102
MIFTS: 12

Distal Nebulin Myopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Distal Nebulin Myopathy

MalaCards integrated aliases for Distal Nebulin Myopathy:

Name: Distal Nebulin Myopathy 58
Nebulin-Related Early-Onset Distal Myopathy 58

Characteristics:

Orphanet epidemiological data:

58
distal nebulin myopathy
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G71.0
Orphanet 58 ORPHA399103

Summaries for Distal Nebulin Myopathy

MalaCards based summary : Distal Nebulin Myopathy, is also known as nebulin-related early-onset distal myopathy. An important gene associated with Distal Nebulin Myopathy is NEB (Nebulin). Affiliated tissues include skeletal muscle, and related phenotypes are high palate and emg: myopathic abnormalities

Related Diseases for Distal Nebulin Myopathy

Symptoms & Phenotypes for Distal Nebulin Myopathy

Human phenotypes related to Distal Nebulin Myopathy:

58 31 (showing 17, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
2 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
3 nemaline bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003798
4 neck flexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003722
5 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
6 weakness of the intrinsic hand muscles 58 31 frequent (33%) Frequent (79-30%) HP:0009005
7 progressive distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009063
8 sternocleidomastoid amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012036
9 weakness of long finger extensor muscles 58 31 frequent (33%) Frequent (79-30%) HP:0009077
10 ankle flexion contracture 31 frequent (33%) HP:0006466
11 slender build 58 31 occasional (7.5%) Occasional (29-5%) HP:0001533
12 progressive proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009073
13 exertional dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002875
14 weakness of facial musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0030319
15 fatty replacement of skeletal muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0012548
16 cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001638
17 ankle contracture 58 Frequent (79-30%)

Drugs & Therapeutics for Distal Nebulin Myopathy

Search Clinical Trials , NIH Clinical Center for Distal Nebulin Myopathy

Genetic Tests for Distal Nebulin Myopathy

Anatomical Context for Distal Nebulin Myopathy

MalaCards organs/tissues related to Distal Nebulin Myopathy:

40
Skeletal Muscle

Publications for Distal Nebulin Myopathy

Articles related to Distal Nebulin Myopathy:

(showing 1, show less)
# Title Authors PMID Year
1
NEB-related core-rod myopathy with distinct clinical and pathological features. 61
26562614 2016

Variations for Distal Nebulin Myopathy

Expression for Distal Nebulin Myopathy

Search GEO for disease gene expression data for Distal Nebulin Myopathy.

Pathways for Distal Nebulin Myopathy

GO Terms for Distal Nebulin Myopathy

Sources for Distal Nebulin Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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