MCID: MYS077
MIFTS: 19

Myasthenic Syndrome, Congenital, 15

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 15

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 15:

Name: Myasthenic Syndrome, Congenital, 15 57 75 29 6
Myasthenic Syndrome, Congenital, Without Tubular Aggregates 57 75 73
Cms15 57 12 75
Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates 57 75
Cmswta 57 75
Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates 40
Myasthenic Syndrome, Congenital, Without Tubular Aggregates; Cmswta 57
Congenital Myasthenic Syndrome 15 Without Tubular Aggregates 12
Congenital Myasthenic Syndrome 15 12

Characteristics:

HPO:

32
myasthenic syndrome, congenital, 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616227
Disease Ontology 12 DOID:0110658
MeSH 44 D020294
UMLS 73 C4015596

Summaries for Myasthenic Syndrome, Congenital, 15

UniProtKB/Swiss-Prot : 75 Myasthenic syndrome, congenital, 15: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness.

MalaCards based summary : Myasthenic Syndrome, Congenital, 15, is also known as myasthenic syndrome, congenital, without tubular aggregates. An important gene associated with Myasthenic Syndrome, Congenital, 15 is ALG14 (ALG14, UDP-N-Acetylglucosaminyltransferase Subunit). Related phenotypes are ptosis and frequent falls

Disease Ontology : 12 A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has material basis in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.

OMIM : 57 Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by Cossins et al., 2013). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616227)

Related Diseases for Myasthenic Syndrome, Congenital, 15

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 15

Clinical features from OMIM:

616227

Human phenotypes related to Myasthenic Syndrome, Congenital, 15:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 very rare (1%) HP:0000508
2 frequent falls 32 HP:0002359
3 multiple joint contractures 32 very rare (1%) HP:0002828
4 emg 32 very rare (1%) HP:0003403
5 fatigable weakness 32 very rare (1%) HP:0003473
6 increased jitter at single fibre emg 32 very rare (1%) HP:0030205

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 15

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 15

Genetic Tests for Myasthenic Syndrome, Congenital, 15

Genetic tests related to Myasthenic Syndrome, Congenital, 15:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 15 29 ALG14

Anatomical Context for Myasthenic Syndrome, Congenital, 15

Publications for Myasthenic Syndrome, Congenital, 15

Variations for Myasthenic Syndrome, Congenital, 15

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 15:

75
# Symbol AA change Variation ID SNP ID
1 ALG14 p.Pro65Leu VAR_073331 rs730882050

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 15:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG14 NM_144988.3(ALG14): c.194C> T (p.Pro65Leu) single nucleotide variant Pathogenic rs730882050 GRCh37 Chromosome 1, 95530516: 95530516
2 ALG14 NM_144988.3(ALG14): c.194C> T (p.Pro65Leu) single nucleotide variant Pathogenic rs730882050 GRCh38 Chromosome 1, 95064960: 95064960
3 ALG14 NM_144988.3(ALG14): c.310C> T (p.Arg104Ter) single nucleotide variant Pathogenic rs367570129 GRCh37 Chromosome 1, 95492795: 95492795
4 ALG14 NM_144988.3(ALG14): c.310C> T (p.Arg104Ter) single nucleotide variant Pathogenic rs367570129 GRCh38 Chromosome 1, 95027239: 95027239
5 ALG14 NM_144988.3(ALG14): c.113G> T (p.Ser38Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139521179 GRCh37 Chromosome 1, 95538342: 95538342
6 ALG14 NM_144988.3(ALG14): c.113G> T (p.Ser38Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139521179 GRCh38 Chromosome 1, 95072786: 95072786
7 ALG14 NM_144988.3(ALG14): c.31G> A (p.Ala11Thr) single nucleotide variant Benign/Likely benign rs34364382 GRCh37 Chromosome 1, 95538424: 95538424
8 ALG14 NM_144988.3(ALG14): c.31G> A (p.Ala11Thr) single nucleotide variant Benign/Likely benign rs34364382 GRCh38 Chromosome 1, 95072868: 95072868
9 ALG14 NM_144988.3(ALG14): c.220G> A (p.Asp74Asn) single nucleotide variant Uncertain significance rs769114543 GRCh37 Chromosome 1, 95530490: 95530490
10 ALG14 NM_144988.3(ALG14): c.220G> A (p.Asp74Asn) single nucleotide variant Uncertain significance rs769114543 GRCh38 Chromosome 1, 95064934: 95064934
11 ALG14 NM_144988.3(ALG14): c.389T> A (p.Phe130Tyr) single nucleotide variant Uncertain significance rs150452802 GRCh38 Chromosome 1, 95027160: 95027160
12 ALG14 NM_144988.3(ALG14): c.389T> A (p.Phe130Tyr) single nucleotide variant Uncertain significance rs150452802 GRCh37 Chromosome 1, 95492716: 95492716
13 ALG14 NM_144988.3(ALG14): c.171G> A (p.Gly57=) single nucleotide variant Benign rs141065009 GRCh37 Chromosome 1, 95530539: 95530539
14 ALG14 NM_144988.3(ALG14): c.171G> A (p.Gly57=) single nucleotide variant Benign rs141065009 GRCh38 Chromosome 1, 95064983: 95064983
15 ALG14 NM_144988.3(ALG14): c.552C> T (p.Ser184=) single nucleotide variant Likely benign rs148202016 GRCh38 Chromosome 1, 94983175: 94983175
16 ALG14 NM_144988.3(ALG14): c.552C> T (p.Ser184=) single nucleotide variant Likely benign rs148202016 GRCh37 Chromosome 1, 95448731: 95448731
17 ALG14 NM_144988.3(ALG14): c.546C> T (p.Ser182=) single nucleotide variant Likely benign rs199846785 GRCh38 Chromosome 1, 94983181: 94983181
18 ALG14 NM_144988.3(ALG14): c.546C> T (p.Ser182=) single nucleotide variant Likely benign rs199846785 GRCh37 Chromosome 1, 95448737: 95448737
19 ALG14 NM_144988.3(ALG14): c.540G> A (p.Thr180=) single nucleotide variant Likely benign rs767937526 GRCh38 Chromosome 1, 94983187: 94983187
20 ALG14 NM_144988.3(ALG14): c.540G> A (p.Thr180=) single nucleotide variant Likely benign rs767937526 GRCh37 Chromosome 1, 95448743: 95448743
21 ALG14 NM_144988.3(ALG14): c.182A> G (p.Asn61Ser) single nucleotide variant Uncertain significance rs138996965 GRCh37 Chromosome 1, 95530528: 95530528
22 ALG14 NM_144988.3(ALG14): c.182A> G (p.Asn61Ser) single nucleotide variant Uncertain significance rs138996965 GRCh38 Chromosome 1, 95064972: 95064972
23 ALG14 NM_144988.3(ALG14): c.86T> C (p.Met29Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 95072813: 95072813
24 ALG14 NM_144988.3(ALG14): c.86T> C (p.Met29Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 95538369: 95538369
25 ALG14 NM_144988.3(ALG14): c.371A> C (p.His124Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 95492734: 95492734
26 ALG14 NM_144988.3(ALG14): c.371A> C (p.His124Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 95027178: 95027178
27 ALG14 NM_144988.3(ALG14): c.40G> A (p.Val14Met) single nucleotide variant Likely benign rs11165298 GRCh38 Chromosome 1, 95072859: 95072859
28 ALG14 NM_144988.3(ALG14): c.40G> A (p.Val14Met) single nucleotide variant Likely benign rs11165298 GRCh37 Chromosome 1, 95538415: 95538415

Expression for Myasthenic Syndrome, Congenital, 15

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 15.

Pathways for Myasthenic Syndrome, Congenital, 15

GO Terms for Myasthenic Syndrome, Congenital, 15

Sources for Myasthenic Syndrome, Congenital, 15

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