MCID: DST102
MIFTS: 11

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 59
Nebulin-Related Early-Onset Distal Myopathy 59

Characteristics:

Orphanet epidemiological data:

59
distal nebulin myopathy
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G71.0
Orphanet 59 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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
2 emg: myopathic abnormalities 59 32 frequent (33%) Frequent (79-30%) HP:0003458
3 nemaline bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003798
4 neck flexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003722
5 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
6 weakness of the intrinsic hand muscles 59 32 frequent (33%) Frequent (79-30%) HP:0009005
7 progressive distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009063
8 sternocleidomastoid amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012036
9 weakness of long finger extensor muscles 59 32 frequent (33%) Frequent (79-30%) HP:0009077
10 ankle flexion contracture 32 frequent (33%) HP:0006466
11 slender build 59 32 occasional (7.5%) Occasional (29-5%) HP:0001533
12 progressive proximal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0009073
13 exertional dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002875
14 weakness of facial musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0030319
15 fatty replacement of skeletal muscle 59 32 occasional (7.5%) Occasional (29-5%) HP:0012548
16 cardiomyopathy 59 32 very rare (1%) Very rare (<4-1%) HP:0001638
17 ankle contracture 59 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:

41
Skeletal Muscle

Publications for Distal Nebulin Myopathy

Articles related to Distal Nebulin Myopathy:

# Title Authors PMID Year
1
NEB-related core-rod myopathy with distinct clinical and pathological features. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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