MCID: MYS068
MIFTS: 22

Myasthenic Syndrome, Congenital, 20, Presynaptic

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 20, Presynaptic

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 20, Presynaptic:

Name: Myasthenic Syndrome, Congenital, 20, Presynaptic 57 75 29 6
Cms20 57 12 75
Myasthenic Syndrome, Congenital, Type 20, Presynaptic 40
Congenital Myasthenic Syndrome 20 Presynaptic 12
Congenital Myasthenic Syndrome 20 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
death in infancy may occur
onset at birth or in utero
fluctuating disease course
favorable response to ache inhibitors


HPO:

32
myasthenic syndrome, congenital, 20, presynaptic:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 20, Presynaptic

OMIM : 57 Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by Bauche et al., 2016). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (617143)

MalaCards based summary : Myasthenic Syndrome, Congenital, 20, Presynaptic, is also known as cms20. An important gene associated with Myasthenic Syndrome, Congenital, 20, Presynaptic is SLC5A7 (Solute Carrier Family 5 Member 7). Related phenotypes are neck muscle weakness and ptosis

UniProtKB/Swiss-Prot : 75 Myasthenic syndrome, congenital, 20, presynaptic: 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. CMS20 is an autosomal recessive, pre-synaptic form characterized by severe hypotonia and episodic apnea soon after birth, generalized limb fatigability and weakness, delayed walking, ptosis, poor sucking and swallowing.

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has material basis in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.

Related Diseases for Myasthenic Syndrome, Congenital, 20, Presynaptic

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 20, Presynaptic

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
ophthalmoparesis

Voice:
dysphonia

Skeletal Spine:
scoliosis
kyphosis

Respiratory:
stridor
episodic apnea due to muscle weakness
chronic hypoventilation

Neurologic Central Nervous System:
cognitive impairment (in some patients)

Prenatal Manifestations Amniotic Fluid:
hydramnios (in some patients)

Muscle Soft Tissue:
muscle weakness
hypotonia
delayed walking
bulbar muscle weakness
muscle fatigability
more
Abdomen Gastrointestinal:
dysphagia
poor feeding
poor swallowing
poor sucking

Head And Neck Neck:
neck muscle weakness

Head And Neck Face:
facial weakness

Skeletal:
arthrogryposis (in some patients)


Clinical features from OMIM:

617143

Human phenotypes related to Myasthenic Syndrome, Congenital, 20, Presynaptic:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 neck muscle weakness 32 HP:0000467
2 ptosis 32 HP:0000508
3 ophthalmoparesis 32 HP:0000597
4 bulbar palsy 32 HP:0001283
5 generalized hypotonia 32 HP:0001290
6 polyhydramnios 32 occasional (7.5%) HP:0001561
7 dysphonia 32 HP:0001618
8 dysphagia 32 HP:0002015
9 poor suck 32 HP:0002033
10 scoliosis 32 HP:0002650
11 arthrogryposis multiplex congenita 32 occasional (7.5%) HP:0002804
12 kyphosis 32 HP:0002808
13 stridor 32 HP:0010307
14 facial palsy 32 HP:0010628
15 cognitive impairment 32 occasional (7.5%) HP:0100543

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 20, Presynaptic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of a Mulligan Mobilisation in the Lumbar Flexion Range of Asymptomatic Subjects Completed NCT00678093 Not Applicable
2 Acute Effects of Foam Rolling on Viscoelastic Tissue Properties and Fascial Sliding Completed NCT02919527 Not Applicable

Search NIH Clinical Center for Myasthenic Syndrome, Congenital, 20, Presynaptic

Genetic Tests for Myasthenic Syndrome, Congenital, 20, Presynaptic

Genetic tests related to Myasthenic Syndrome, Congenital, 20, Presynaptic:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 20, Presynaptic 29 SLC5A7

Anatomical Context for Myasthenic Syndrome, Congenital, 20, Presynaptic

Publications for Myasthenic Syndrome, Congenital, 20, Presynaptic

Variations for Myasthenic Syndrome, Congenital, 20, Presynaptic

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 20, Presynaptic:

75
# Symbol AA change Variation ID SNP ID
1 SLC5A7 p.Asp48Gly VAR_077854 rs886039768
2 SLC5A7 p.Gly65Glu VAR_077855 rs886039765
3 SLC5A7 p.Pro105Ser VAR_077856 rs886039766
4 SLC5A7 p.Tyr111His VAR_077857
5 SLC5A7 p.Arg361Gln VAR_077861 rs147656110
6 SLC5A7 p.Arg446Gly VAR_077863

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 20, Presynaptic:

6
(show top 50) (show all 55)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC5A7 NM_021815.4(SLC5A7): c.194G> A (p.Gly65Glu) single nucleotide variant Pathogenic rs886039765 GRCh38 Chromosome 2, 107992121: 107992121
2 SLC5A7 NM_021815.4(SLC5A7): c.194G> A (p.Gly65Glu) single nucleotide variant Pathogenic rs886039765 GRCh37 Chromosome 2, 108608577: 108608577
3 SLC5A7 NM_021815.4(SLC5A7): c.313C> T (p.Pro105Ser) single nucleotide variant Uncertain significance rs886039766 GRCh37 Chromosome 2, 108609448: 108609448
4 SLC5A7 NM_021815.4(SLC5A7): c.313C> T (p.Pro105Ser) single nucleotide variant Uncertain significance rs886039766 GRCh38 Chromosome 2, 107992992: 107992992
5 SLC5A7 NM_021815.4(SLC5A7): c.1082G> A (p.Arg361Gln) single nucleotide variant Pathogenic rs147656110 GRCh38 Chromosome 2, 108008651: 108008651
6 SLC5A7 NM_021815.4(SLC5A7): c.1082G> A (p.Arg361Gln) single nucleotide variant Pathogenic rs147656110 GRCh37 Chromosome 2, 108625107: 108625107
7 SLC5A7 NM_021815.4(SLC5A7): c.123_126delCATC (p.Ile42Terfs) deletion Pathogenic rs886039767 GRCh38 Chromosome 2, 107988278: 107988281
8 SLC5A7 NM_021815.4(SLC5A7): c.123_126delCATC (p.Ile42Terfs) deletion Pathogenic rs886039767 GRCh37 Chromosome 2, 108604734: 108604737
9 SLC5A7 NM_021815.4(SLC5A7): c.143A> G (p.Asp48Gly) single nucleotide variant Pathogenic rs886039768 GRCh37 Chromosome 2, 108604754: 108604754
10 SLC5A7 NM_021815.4(SLC5A7): c.143A> G (p.Asp48Gly) single nucleotide variant Pathogenic rs886039768 GRCh38 Chromosome 2, 107988298: 107988298
11 SLC5A7 NM_021815.4(SLC5A7): c.713A> G (p.Tyr238Cys) single nucleotide variant Benign rs142776152 GRCh38 Chromosome 2, 108002012: 108002012
12 SLC5A7 NM_021815.4(SLC5A7): c.713A> G (p.Tyr238Cys) single nucleotide variant Benign rs142776152 GRCh37 Chromosome 2, 108618468: 108618468
13 SLC5A7 NM_021815.4(SLC5A7): c.1119G> A (p.Ser373=) single nucleotide variant Likely benign rs759819899 GRCh38 Chromosome 2, 108010237: 108010237
14 SLC5A7 NM_021815.4(SLC5A7): c.1119G> A (p.Ser373=) single nucleotide variant Likely benign rs759819899 GRCh37 Chromosome 2, 108626693: 108626693
15 covers 14 genes, none of which curated to show dosage sensitivity NC_000002.12: g.(?_107988136)_(108963283_?)dup duplication Uncertain significance GRCh38 Chromosome 2, 107988136: 108963283
16 SLC5A7 NM_021815.4(SLC5A7): c.275C> T (p.Ser92Phe) single nucleotide variant Uncertain significance rs60964124 GRCh38 Chromosome 2, 107992202: 107992202
17 SLC5A7 NM_021815.4(SLC5A7): c.275C> T (p.Ser92Phe) single nucleotide variant Uncertain significance rs60964124 GRCh37 Chromosome 2, 108608658: 108608658
18 SLC5A7 NM_021815.4(SLC5A7): c.878C> T (p.Ala293Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 108006185: 108006185
19 SLC5A7 NM_021815.4(SLC5A7): c.878C> T (p.Ala293Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 108622641: 108622641
20 SLC5A7 NM_021815.4(SLC5A7): c.1245C> T (p.Ile415=) single nucleotide variant Benign rs149442049 GRCh38 Chromosome 2, 108010363: 108010363
21 SLC5A7 NM_021815.4(SLC5A7): c.1245C> T (p.Ile415=) single nucleotide variant Benign rs149442049 GRCh37 Chromosome 2, 108626819: 108626819
22 SLC5A7 NM_021815.4(SLC5A7): c.46C> T (p.Leu16Phe) single nucleotide variant Likely benign rs143876748 GRCh37 Chromosome 2, 108604657: 108604657
23 SLC5A7 NM_021815.4(SLC5A7): c.46C> T (p.Leu16Phe) single nucleotide variant Likely benign rs143876748 GRCh38 Chromosome 2, 107988201: 107988201
24 SLC5A7 NM_021815.4(SLC5A7): c.1690C> G (p.Leu564Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 108010808: 108010808
25 SLC5A7 NM_021815.4(SLC5A7): c.1690C> G (p.Leu564Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 108627264: 108627264
26 SLC5A7 NM_021815.4(SLC5A7): c.177A> G (p.Thr59=) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 107988332: 107988332
27 SLC5A7 NM_021815.4(SLC5A7): c.177A> G (p.Thr59=) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 108604788: 108604788
28 SLC5A7 NM_021815.4(SLC5A7): c.178+6T> C single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 108604795: 108604795
29 SLC5A7 NM_021815.4(SLC5A7): c.178+6T> C single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 107988339: 107988339
30 SLC5A7 NM_021815.4(SLC5A7): c.474T> C (p.Asp158=) single nucleotide variant Benign rs201965363 GRCh38 Chromosome 2, 107997863: 107997863
31 SLC5A7 NM_021815.4(SLC5A7): c.474T> C (p.Asp158=) single nucleotide variant Benign rs201965363 GRCh37 Chromosome 2, 108614319: 108614319
32 SLC5A7 NM_021815.4(SLC5A7): c.477G> A (p.Val159=) single nucleotide variant Benign rs143203868 GRCh38 Chromosome 2, 107997866: 107997866
33 SLC5A7 NM_021815.4(SLC5A7): c.477G> A (p.Val159=) single nucleotide variant Benign rs143203868 GRCh37 Chromosome 2, 108614322: 108614322
34 SLC5A7 NM_021815.4(SLC5A7): c.390G> A (p.Leu130=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 108609525: 108609525
35 SLC5A7 NM_021815.4(SLC5A7): c.390G> A (p.Leu130=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 107993069: 107993069
36 SLC5A7 NM_021815.4(SLC5A7): c.498C> A (p.Ile166=) single nucleotide variant Likely benign rs138947334 GRCh38 Chromosome 2, 107997887: 107997887
37 SLC5A7 NM_021815.4(SLC5A7): c.498C> A (p.Ile166=) single nucleotide variant Likely benign rs138947334 GRCh37 Chromosome 2, 108614343: 108614343
38 SLC5A7 NM_021815.4(SLC5A7): c.636C> T (p.Val212=) single nucleotide variant Likely benign rs200804007 GRCh38 Chromosome 2, 108001935: 108001935
39 SLC5A7 NM_021815.4(SLC5A7): c.636C> T (p.Val212=) single nucleotide variant Likely benign rs200804007 GRCh37 Chromosome 2, 108618391: 108618391
40 SLC5A7 NM_021815.4(SLC5A7): c.826C> T (p.Leu276=) single nucleotide variant Benign rs78245030 GRCh38 Chromosome 2, 108006133: 108006133
41 SLC5A7 NM_021815.4(SLC5A7): c.826C> T (p.Leu276=) single nucleotide variant Benign rs78245030 GRCh37 Chromosome 2, 108622589: 108622589
42 SLC5A7 NM_021815.4(SLC5A7): c.504T> C (p.Ser168=) single nucleotide variant Likely benign rs752342608 GRCh38 Chromosome 2, 107997893: 107997893
43 SLC5A7 NM_021815.4(SLC5A7): c.504T> C (p.Ser168=) single nucleotide variant Likely benign rs752342608 GRCh37 Chromosome 2, 108614349: 108614349
44 SLC5A7 NM_021815.4(SLC5A7): c.1237G> A (p.Val413Ile) single nucleotide variant Likely benign rs138945146 GRCh38 Chromosome 2, 108010355: 108010355
45 SLC5A7 NM_021815.4(SLC5A7): c.1237G> A (p.Val413Ile) single nucleotide variant Likely benign rs138945146 GRCh37 Chromosome 2, 108626811: 108626811
46 SLC5A7 NM_021815.4(SLC5A7): c.1254C> A (p.Phe418Leu) single nucleotide variant Uncertain significance rs770003632 GRCh38 Chromosome 2, 108010372: 108010372
47 SLC5A7 NM_021815.4(SLC5A7): c.1254C> A (p.Phe418Leu) single nucleotide variant Uncertain significance rs770003632 GRCh37 Chromosome 2, 108626828: 108626828
48 SLC5A7 NM_021815.4(SLC5A7): c.119A> C (p.Glu40Ala) single nucleotide variant Uncertain significance rs770628227 GRCh38 Chromosome 2, 107988274: 107988274
49 SLC5A7 NM_021815.4(SLC5A7): c.119A> C (p.Glu40Ala) single nucleotide variant Uncertain significance rs770628227 GRCh37 Chromosome 2, 108604730: 108604730
50 SLC5A7 NM_021815.4(SLC5A7): c.1266T> G (p.Leu422=) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 108010384: 108010384

Expression for Myasthenic Syndrome, Congenital, 20, Presynaptic

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 20, Presynaptic.

Pathways for Myasthenic Syndrome, Congenital, 20, Presynaptic

GO Terms for Myasthenic Syndrome, Congenital, 20, Presynaptic

Sources for Myasthenic Syndrome, Congenital, 20, Presynaptic

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