CMS15
MCID: MYS077
MIFTS: 29

Myasthenic Syndrome, Congenital, 15 (CMS15)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 15

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 15:

Name: Myasthenic Syndrome, Congenital, 15 57 72 29 6
Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates 57 72 29
Myasthenic Syndrome, Congenital, Without Tubular Aggregates 57 72 70
Cms15 57 12 72
Congenital Myasthenic Syndrome 15 12 15
Cmswta 57 72
Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates 39
Myasthenic Syndrome, Congenital, Without Tubular Aggregates; Cmswta 57
Congenital Myasthenic Syndrome 15 Without Tubular Aggregates 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first decade
favorable response to anticholinesterase medication
two sisters have been reported (last curated february 2015)


HPO:

31
myasthenic syndrome, congenital, 15:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0110658
OMIM® 57 616227
OMIM Phenotypic Series 57 PS601462
MeSH 44 D020294
UMLS 70 C4015596

Summaries for Myasthenic Syndrome, Congenital, 15

UniProtKB/Swiss-Prot : 72 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, also known as myasthenic syndrome, congenital, 15, without tubular aggregates, is related to myopathy, epilepsy, and progressive cerebral atrophy and congenital myasthenic syndromes with glycosylation defect. An important gene associated with Myasthenic Syndrome, Congenital, 15 is ALG14 (ALG14 UDP-N-Acetylglucosaminyltransferase Subunit). Related phenotypes are ptosis and multiple joint contractures

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) (Updated 05-Apr-2021)

Related Diseases for Myasthenic Syndrome, Congenital, 15

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 15:



Diseases related to Myasthenic Syndrome, Congenital, 15

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 15

Human phenotypes related to Myasthenic Syndrome, Congenital, 15:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 very rare (1%) HP:0000508
2 multiple joint contractures 31 very rare (1%) HP:0002828
3 fatigable weakness 31 very rare (1%) HP:0003473
4 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 31 very rare (1%) HP:0003403
5 increased jitter at single fiber emg 31 very rare (1%) HP:0030205
6 frequent falls 31 HP:0002359
7 difficulty walking 31 HP:0002355

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
difficulty walking
muscle weakness, proximal greater than distal
myasthenic syndrome
decrement of compound action muscle potentials (cmap) seen on repetitive nerve stimulation

Skeletal:
joint contractures (1 patient)

Clinical features from OMIM®:

616227 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Myasthenic Syndrome, Congenital, 15 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 8.92 AKAP12 ATP6AP1 CREM HTR3B

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
2 Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates 29

Anatomical Context for Myasthenic Syndrome, Congenital, 15

Publications for Myasthenic Syndrome, Congenital, 15

Articles related to Myasthenic Syndrome, Congenital, 15:

# Title Authors PMID Year
1
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. 6 57
23404334 2013
2
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. 6
28733338 2017

Variations for Myasthenic Syndrome, Congenital, 15

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

6 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALG14 , ALG14-AS1 NM_144988.4(ALG14):c.194C>T (p.Pro65Leu) SNV Pathogenic 183013 rs730882050 GRCh37: 1:95530516-95530516
GRCh38: 1:95064960-95064960
2 ALG14 NM_144988.4(ALG14):c.310C>T (p.Arg104Ter) SNV Pathogenic 183014 rs367570129 GRCh37: 1:95492795-95492795
GRCh38: 1:95027239-95027239
3 ALG14 , ALG14-AS1 NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) SNV Likely pathogenic 389968 rs769114543 GRCh37: 1:95530490-95530490
GRCh38: 1:95064934-95064934
4 ALG14 , ALG14-AS1 NM_144988.4(ALG14):c.179C>G (p.Ser60Cys) SNV Uncertain significance 390702 rs780277809 GRCh37: 1:95530531-95530531
GRCh38: 1:95064975-95064975
5 ALG14 NM_144988.4(ALG14):c.326G>A (p.Arg109Gln) SNV Uncertain significance 379351 rs199689080 GRCh37: 1:95492779-95492779
GRCh38: 1:95027223-95027223
6 ALG14 NM_144988.4(ALG14):c.420+5G>A SNV Uncertain significance 651088 rs1571621391 GRCh37: 1:95492680-95492680
GRCh38: 1:95027124-95027124
7 ALG14 NM_144988.4(ALG14):c.406G>A (p.Val136Met) SNV Uncertain significance 835869 GRCh37: 1:95492699-95492699
GRCh38: 1:95027143-95027143
8 ALG14 NM_144988.4(ALG14):c.83C>A (p.Ser28Tyr) SNV Uncertain significance 933844 GRCh37: 1:95538372-95538372
GRCh38: 1:95072816-95072816
9 ALG14 , ALG14-AS1 NM_144988.4(ALG14):c.277C>G (p.Pro93Ala) SNV Uncertain significance 962552 GRCh37: 1:95530433-95530433
GRCh38: 1:95064877-95064877
10 ALG14 NM_144988.4(ALG14):c.311G>A (p.Arg104Gln) SNV Uncertain significance 657720 rs201781289 GRCh37: 1:95492794-95492794
GRCh38: 1:95027238-95027238
11 ALG14 NM_144988.4(ALG14):c.337C>G (p.Gln113Glu) SNV Uncertain significance 955716 GRCh37: 1:95492768-95492768
GRCh38: 1:95027212-95027212
12 ALG14 NM_144988.4(ALG14):c.533T>G (p.Val178Gly) SNV Uncertain significance 1017450 GRCh37: 1:95448750-95448750
GRCh38: 1:94983194-94983194
13 ALG14 , ALG14-AS1 NM_144988.4(ALG14):c.140G>T (p.Gly47Val) SNV Uncertain significance 383072 rs139758313 GRCh37: 1:95530570-95530570
GRCh38: 1:95065014-95065014
14 ALG14 NM_144988.4(ALG14):c.422T>G (p.Val141Gly) SNV Uncertain significance 652328 rs139005007 GRCh37: 1:95448861-95448861
GRCh38: 1:94983305-94983305
15 ALG14 NM_144988.4(ALG14):c.136+1G>C SNV Uncertain significance 662491 rs150550220 GRCh37: 1:95538318-95538318
GRCh38: 1:95072762-95072762
16 ALG14 , ALG14-AS1 NM_144988.4(ALG14):c.245A>G (p.Asn82Ser) SNV Uncertain significance 842849 GRCh37: 1:95530465-95530465
GRCh38: 1:95064909-95064909
17 ALG14 NM_144988.4(ALG14):c.641G>A (p.Arg214Gln) SNV Uncertain significance 1037915 GRCh37: 1:95448642-95448642
GRCh38: 1:94983086-94983086
18 ALG14 NM_144988.4(ALG14):c.599C>T (p.Pro200Leu) SNV Uncertain significance 1045564 GRCh37: 1:95448684-95448684
GRCh38: 1:94983128-94983128
19 ALG14 NM_144988.4(ALG14):c.289-2A>G SNV Uncertain significance 1045748 GRCh37: 1:95492818-95492818
GRCh38: 1:95027262-95027262
20 ALG14 NM_144988.4(ALG14):c.342_344del (p.Trp115del) Deletion Uncertain significance 1046647 GRCh37: 1:95492761-95492763
GRCh38: 1:95027205-95027207
21 ALG14 , ALG14-AS1 NM_144988.4(ALG14):c.191C>T (p.Ser64Leu) SNV Uncertain significance 1047475 GRCh37: 1:95530519-95530519
GRCh38: 1:95064963-95064963
22 ALG14 NM_144988.4(ALG14):c.98C>T (p.Pro33Leu) SNV Uncertain significance 644995 rs200080963 GRCh37: 1:95538357-95538357
GRCh38: 1:95072801-95072801
23 ALG14 NM_144988.4(ALG14):c.421G>A (p.Val141Met) SNV Uncertain significance 931162 GRCh37: 1:95448862-95448862
GRCh38: 1:94983306-94983306
24 ALG14 NM_144988.4(ALG14):c.38C>T (p.Ala13Val) SNV Uncertain significance 939874 GRCh37: 1:95538417-95538417
GRCh38: 1:95072861-95072861
25 ALG14 NM_144988.4(ALG14):c.529C>A (p.Arg177Ser) SNV Uncertain significance 956425 GRCh37: 1:95448754-95448754
GRCh38: 1:94983198-94983198
26 ALG14 NM_144988.4(ALG14):c.389T>A (p.Phe130Tyr) SNV Uncertain significance 475363 rs150452802 GRCh37: 1:95492716-95492716
GRCh38: 1:95027160-95027160
27 ALG14 , ALG14-AS1 NM_144988.4(ALG14):c.182A>G (p.Asn61Ser) SNV Uncertain significance 542122 rs138996965 GRCh37: 1:95530528-95530528
GRCh38: 1:95064972-95064972
28 ALG14 NM_144988.4(ALG14):c.371A>C (p.His124Pro) SNV Uncertain significance 542123 rs1553228218 GRCh37: 1:95492734-95492734
GRCh38: 1:95027178-95027178
29 ALG14 NM_144988.4(ALG14):c.86T>C (p.Met29Thr) SNV Uncertain significance 542124 rs1156822888 GRCh37: 1:95538369-95538369
GRCh38: 1:95072813-95072813
30 ALG14 NM_144988.4(ALG14):c.570T>A (p.His190Gln) SNV Uncertain significance 839108 GRCh37: 1:95448713-95448713
GRCh38: 1:94983157-94983157
31 ALG14 NM_144988.4(ALG14):c.113G>A (p.Ser38Asn) SNV Uncertain significance 857180 GRCh37: 1:95538342-95538342
GRCh38: 1:95072786-95072786
32 ALG14 NM_144988.4(ALG14):c.113G>T (p.Ser38Ile) SNV Likely benign 287329 rs139521179 GRCh37: 1:95538342-95538342
GRCh38: 1:95072786-95072786
33 ALG14 NM_144988.4(ALG14):c.354C>T (p.Thr118=) SNV Likely benign 772919 rs372809921 GRCh37: 1:95492751-95492751
GRCh38: 1:95027195-95027195
34 ALG14 NM_144988.4(ALG14):c.40G>A (p.Val14Met) SNV Likely benign 542125 rs11165298 GRCh37: 1:95538415-95538415
GRCh38: 1:95072859-95072859
35 ALG14 NM_144988.4(ALG14):c.552C>T (p.Ser184=) SNV Likely benign 475366 rs148202016 GRCh37: 1:95448731-95448731
GRCh38: 1:94983175-94983175
36 ALG14 NM_144988.4(ALG14):c.540G>A (p.Thr180=) SNV Likely benign 475364 rs767937526 GRCh37: 1:95448743-95448743
GRCh38: 1:94983187-94983187
37 ALG14 NM_144988.4(ALG14):c.546C>T (p.Ser182=) SNV Likely benign 475365 rs199846785 GRCh37: 1:95448737-95448737
GRCh38: 1:94983181-94983181
38 ALG14 NM_144988.4(ALG14):c.31G>A (p.Ala11Thr) SNV Benign 376840 rs34364382 GRCh37: 1:95538424-95538424
GRCh38: 1:95072868-95072868
39 ALG14 NM_144988.4(ALG14):c.291T>C (p.Tyr97=) SNV Benign 706372 rs199810632 GRCh37: 1:95492814-95492814
GRCh38: 1:95027258-95027258
40 ALG14 , ALG14-AS1 NM_144988.4(ALG14):c.171G>A (p.Gly57=) SNV Benign 475362 rs141065009 GRCh37: 1:95530539-95530539
GRCh38: 1:95064983-95064983

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

72
# Symbol AA change Variation ID SNP ID
1 ALG14 p.Pro65Leu VAR_073331 rs730882050

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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