MCID: BNG075
MIFTS: 12

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 58

Characteristics:

Orphanet epidemiological data:

58
benign samaritan congenital myopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
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 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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
3 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
4 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
5 narrow forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000341
6 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
7 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
8 weak cry 58 31 frequent (33%) Frequent (79-30%) HP:0001612
9 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
10 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
11 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
12 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
13 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
14 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
15 myopathic facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0002058
16 centrally nucleated skeletal muscle fibers 58 31 occasional (7.5%) Occasional (29-5%) HP:0003687
17 internally nucleated skeletal muscle fibers 58 31 occasional (7.5%) Occasional (29-5%) HP:0031237
18 frog-leg posture 58 31 occasional (7.5%) Occasional (29-5%) HP:0031139
19 abnormal respiratory system physiology 31 occasional (7.5%) HP:0002795
20 functional respiratory abnormality 58 Occasional (29-5%)

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:

40
Skeletal Muscle

Publications for Benign Samaritan Congenital Myopathy

Articles related to Benign Samaritan Congenital Myopathy:

# Title Authors PMID Year
1
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. 61
22752422 2012

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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