MCID: BNG075
MIFTS: 13

Benign Samaritan Congenital Myopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Benign Samaritan Congenital Myopathy

MalaCards integrated aliases for Benign Samaritan Congenital Myopathy:

Name: Benign Samaritan Congenital Myopathy 60

Characteristics:

Orphanet epidemiological data:

60
benign samaritan congenital myopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Benign Samaritan Congenital Myopathy

MalaCards based summary : Benign Samaritan Congenital Myopathy An important gene associated with Benign Samaritan Congenital Myopathy is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skeletal muscle and skin, and related phenotypes are hypertelorism and epicanthus

Related Diseases for Benign Samaritan Congenital Myopathy

Symptoms & Phenotypes for Benign Samaritan Congenital Myopathy

Human phenotypes related to Benign Samaritan Congenital Myopathy:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
3 hyporeflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001265
4 generalized hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001290
5 narrow forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000341
6 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
7 thickened skin 60 33 frequent (33%) Frequent (79-30%) HP:0001072
8 weak cry 60 33 frequent (33%) Frequent (79-30%) HP:0001612
9 wide nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000431
10 prominent forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0011220
11 dolichocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000268
12 functional respiratory abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002795
13 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
14 fasciculations 60 33 occasional (7.5%) Occasional (29-5%) HP:0002380
15 lethargy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001254
16 myopathic facies 60 33 occasional (7.5%) Occasional (29-5%) HP:0002058
17 centrally nucleated skeletal muscle fibers 60 33 occasional (7.5%) Occasional (29-5%) HP:0003687
18 internally nucleated skeletal muscle fibers 60 33 occasional (7.5%) Occasional (29-5%) HP:0031237
19 frog-leg posture 60 33 occasional (7.5%) Occasional (29-5%) HP:0031139

Drugs & Therapeutics for Benign Samaritan Congenital Myopathy

Search Clinical Trials , NIH Clinical Center for Benign Samaritan Congenital Myopathy

Genetic Tests for Benign Samaritan Congenital Myopathy

Anatomical Context for Benign Samaritan Congenital Myopathy

MalaCards organs/tissues related to Benign Samaritan Congenital Myopathy:

42
Skeletal Muscle, Skin

Publications for Benign Samaritan Congenital Myopathy

Variations for Benign Samaritan Congenital Myopathy

Expression for Benign Samaritan Congenital Myopathy

Search GEO for disease gene expression data for Benign Samaritan Congenital Myopathy.

Pathways for Benign Samaritan Congenital Myopathy

GO Terms for Benign Samaritan Congenital Myopathy

Sources for Benign Samaritan Congenital 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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