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 60
Nebulin-Related Early-Onset Distal Myopathy 60

Characteristics:

Orphanet epidemiological data:

60
distal nebulin myopathy
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G71.0
Orphanet 60 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:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
2 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
3 nemaline bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003798
4 neck flexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003722
5 foot dorsiflexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009027
6 ankle contracture 60 33 frequent (33%) Frequent (79-30%) HP:0006466
7 weakness of the intrinsic hand muscles 60 33 frequent (33%) Frequent (79-30%) HP:0009005
8 progressive distal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009063
9 sternocleidomastoid amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012036
10 weakness of long finger extensor muscles 60 33 frequent (33%) Frequent (79-30%) HP:0009077
11 slender build 60 33 occasional (7.5%) Occasional (29-5%) HP:0001533
12 progressive proximal muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0009073
13 exertional dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002875
14 weakness of facial musculature 60 33 occasional (7.5%) Occasional (29-5%) HP:0030319
15 fatty replacement of skeletal muscle 60 33 occasional (7.5%) Occasional (29-5%) HP:0012548
16 cardiomyopathy 60 33 very rare (1%) Very rare (<4-1%) HP:0001638

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:

42
Skeletal Muscle

Publications for Distal Nebulin Myopathy

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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