MCID: BNG075
MIFTS: 14

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 59

Characteristics:

Orphanet epidemiological data:

59
benign samaritan congenital myopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
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 wide nasal bridge

Related Diseases for Benign Samaritan Congenital Myopathy

Symptoms & Phenotypes for Benign Samaritan Congenital Myopathy

Human phenotypes related to Benign Samaritan Congenital Myopathy:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
3 prominent forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0011220
4 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
5 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
6 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
7 functional respiratory abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002795
8 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
9 fasciculations 59 32 occasional (7.5%) Occasional (29-5%) HP:0002380
10 thickened skin 59 32 frequent (33%) Frequent (79-30%) HP:0001072
11 hyporeflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001265
12 lethargy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001254
13 weak cry 59 32 frequent (33%) Frequent (79-30%) HP:0001612
14 myopathic facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0002058
15 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
16 centrally nucleated skeletal muscle fibers 59 32 occasional (7.5%) Occasional (29-5%) HP:0003687
17 internally nucleated skeletal muscle fibers 59 32 occasional (7.5%) Occasional (29-5%) HP:0031237
18 narrow forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000341
19 frog-leg posture 59 32 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:

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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