MCID: MYS067
MIFTS: 24

Myasthenic Syndrome, Congenital, 22

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 22

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 22:

Name: Myasthenic Syndrome, Congenital, 22 57 75 29 6
Prepl Deficiency 57 75
Cms22 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
favorable response to ache inhibitor treatment
muscle weakness may improve with age
one patient has been reported (last curated february 2017)


HPO:

32
myasthenic syndrome, congenital, 22:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616224
MeSH 44 D020294

Summaries for Myasthenic Syndrome, Congenital, 22

UniProtKB/Swiss-Prot : 75 Myasthenic syndrome, congenital, 22: 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 include easy fatigability and muscle weakness. CMS22 is an autosomal recessive form characterized by neonatal hypotonia.

MalaCards based summary : Myasthenic Syndrome, Congenital, 22, also known as prepl deficiency, is related to cystinuria. An important gene associated with Myasthenic Syndrome, Congenital, 22 is PREPL (Prolyl Endopeptidase Like). The drugs Sulfamethoxazole and Anti-Infective Agents have been mentioned in the context of this disorder. Related phenotypes are ptosis and growth hormone deficiency

Description from OMIM: 616224

Related Diseases for Myasthenic Syndrome, Congenital, 22

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 22

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia
muscle weakness, predominantly proximal
myasthenic syndrome
decreased mepp and mepc amplitudes
decreased quantal content
more
Head And Neck Mouth:
tented upper lip

Growth Height:
short stature

Endocrine Features:
growth hormone deficiency

Neurologic Central Nervous System:
delayed motor development
waddling gait due to muscle weakness

Laboratory Abnormalities:
no cystinuria


Clinical features from OMIM:

616224

Human phenotypes related to Myasthenic Syndrome, Congenital, 22:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 growth hormone deficiency 32 HP:0000824
3 motor delay 32 HP:0001270
4 generalized hypotonia 32 HP:0001290
5 short stature 32 HP:0004322
6 tented upper lip vermilion 32 HP:0010804
7 feeding difficulties 32 HP:0011968

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 22

Drugs for Myasthenic Syndrome, Congenital, 22 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sulfamethoxazole Approved Phase 2 723-46-6 5329
2 Anti-Infective Agents Phase 2
3 Anesthetics Not Applicable
4 Hormones Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency Unknown status NCT02640443 Phase 2 Sulfamethoxazole
2 PREPL in Health and Disease Unknown status NCT02263781 Not Applicable

Search NIH Clinical Center for Myasthenic Syndrome, Congenital, 22

Genetic Tests for Myasthenic Syndrome, Congenital, 22

Genetic tests related to Myasthenic Syndrome, Congenital, 22:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 22 29 PREPL

Anatomical Context for Myasthenic Syndrome, Congenital, 22

Publications for Myasthenic Syndrome, Congenital, 22

Articles related to Myasthenic Syndrome, Congenital, 22:

# Title Authors Year
1
Isolated PREPL deficiency associated with congenital myasthenic syndrome-22. ( 29913539 )
2018
2
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. ( 24610330 )
2014

Variations for Myasthenic Syndrome, Congenital, 22

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 22:

6
(show top 50) (show all 61)
# Gene Variation Type Significance SNP ID Assembly Location
1 PREPL NM_001171603.1(PREPL): c.807delT (p.Met270Terfs) deletion Pathogenic rs1057523690 GRCh37 Chromosome 2, 44566448: 44566448
2 PREPL NM_001171603.1(PREPL): c.807delT (p.Met270Terfs) deletion Pathogenic rs1057523690 GRCh38 Chromosome 2, 44339309: 44339309
3 PREPL NM_006036.4(PREPL): c.2122G> A (p.Glu708Lys) single nucleotide variant Benign/Likely benign rs149012504 GRCh37 Chromosome 2, 44548557: 44548557
4 PREPL NM_006036.4(PREPL): c.2122G> A (p.Glu708Lys) single nucleotide variant Benign/Likely benign rs149012504 GRCh38 Chromosome 2, 44321418: 44321418
5 PREPL NC_000002.12: g.(?_44321336)_(44359735_?)del deletion Uncertain significance GRCh38 Chromosome 2, 44321336: 44359735
6 PREPL NM_006036.4(PREPL): c.1862A> G (p.Lys621Arg) single nucleotide variant Likely benign rs111438719 GRCh38 Chromosome 2, 44323296: 44323296
7 PREPL NM_006036.4(PREPL): c.1862A> G (p.Lys621Arg) single nucleotide variant Likely benign rs111438719 GRCh37 Chromosome 2, 44550435: 44550435
8 PREPL NM_006036.4(PREPL): c.954A> G (p.Glu318=) single nucleotide variant Benign rs113272276 GRCh37 Chromosome 2, 44566301: 44566301
9 PREPL NM_006036.4(PREPL): c.954A> G (p.Glu318=) single nucleotide variant Benign rs113272276 GRCh38 Chromosome 2, 44339162: 44339162
10 PREPL NM_006036.4(PREPL): c.307C> T (p.Gln103Ter) single nucleotide variant Uncertain significance rs200761047 GRCh38 Chromosome 2, 44346303: 44346303
11 PREPL NM_006036.4(PREPL): c.307C> T (p.Gln103Ter) single nucleotide variant Uncertain significance rs200761047 GRCh37 Chromosome 2, 44573442: 44573442
12 PREPL NM_006036.4(PREPL): c.1923A> G (p.Ala641=) single nucleotide variant Benign rs74395208 GRCh37 Chromosome 2, 44549967: 44549967
13 PREPL NM_006036.4(PREPL): c.1923A> G (p.Ala641=) single nucleotide variant Benign rs74395208 GRCh38 Chromosome 2, 44322828: 44322828
14 PREPL NM_006036.4(PREPL): c.1747-3delT deletion Benign rs773390043 GRCh37 Chromosome 2, 44550553: 44550553
15 PREPL NM_006036.4(PREPL): c.1747-3delT deletion Benign rs773390043 GRCh38 Chromosome 2, 44323414: 44323414
16 PREPL NM_006036.4(PREPL): c.859G> A (p.Asp287Asn) single nucleotide variant Uncertain significance rs748610072 GRCh37 Chromosome 2, 44566396: 44566396
17 PREPL NM_006036.4(PREPL): c.859G> A (p.Asp287Asn) single nucleotide variant Uncertain significance rs748610072 GRCh38 Chromosome 2, 44339257: 44339257
18 PREPL NM_001171603.1(PREPL): c.753-4_753-3dup duplication Likely benign GRCh37 Chromosome 2, 44566505: 44566506
19 PREPL NM_001171603.1(PREPL): c.753-4_753-3dup duplication Likely benign GRCh38 Chromosome 2, 44339366: 44339367
20 PREPL NM_006036.4(PREPL): c.237_240delACAA (p.Gln80Lysfs) deletion Uncertain significance GRCh37 Chromosome 2, 44573509: 44573512
21 PREPL NM_006036.4(PREPL): c.237_240delACAA (p.Gln80Lysfs) deletion Uncertain significance GRCh38 Chromosome 2, 44346370: 44346373
22 PREPL NM_006036.4(PREPL): c.1787C> A (p.Thr596Lys) single nucleotide variant Likely benign rs773867044 GRCh37 Chromosome 2, 44550510: 44550510
23 PREPL NM_006036.4(PREPL): c.1787C> A (p.Thr596Lys) single nucleotide variant Likely benign rs773867044 GRCh38 Chromosome 2, 44323371: 44323371
24 PREPL NM_006036.4(PREPL): c.1777A> T (p.Met593Leu) single nucleotide variant Uncertain significance rs369887158 GRCh37 Chromosome 2, 44550520: 44550520
25 PREPL NM_006036.4(PREPL): c.1777A> T (p.Met593Leu) single nucleotide variant Uncertain significance rs369887158 GRCh38 Chromosome 2, 44323381: 44323381
26 PREPL NM_006036.4(PREPL): c.1184T> C (p.Met395Thr) single nucleotide variant Uncertain significance rs150182073 GRCh38 Chromosome 2, 44332628: 44332628
27 PREPL NM_006036.4(PREPL): c.1184T> C (p.Met395Thr) single nucleotide variant Uncertain significance rs150182073 GRCh37 Chromosome 2, 44559767: 44559767
28 PREPL NM_006036.4(PREPL): c.549C> G (p.Thr183=) single nucleotide variant Uncertain significance rs200854824 GRCh38 Chromosome 2, 44343812: 44343812
29 PREPL NM_006036.4(PREPL): c.549C> G (p.Thr183=) single nucleotide variant Uncertain significance rs200854824 GRCh37 Chromosome 2, 44570951: 44570951
30 PREPL NM_006036.4(PREPL): c.430G> C (p.Val144Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 44343931: 44343931
31 PREPL NM_006036.4(PREPL): c.430G> C (p.Val144Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 44571070: 44571070
32 PREPL NM_006036.4(PREPL): c.149A> T (p.Lys50Met) single nucleotide variant Benign rs78349078 GRCh38 Chromosome 2, 44359567: 44359567
33 PREPL NM_006036.4(PREPL): c.149A> T (p.Lys50Met) single nucleotide variant Benign rs78349078 GRCh37 Chromosome 2, 44586706: 44586706
34 PREPL NM_006036.4(PREPL): c.1769A> G (p.Asn590Ser) single nucleotide variant Benign rs75128515 GRCh37 Chromosome 2, 44550528: 44550528
35 PREPL NM_006036.4(PREPL): c.1769A> G (p.Asn590Ser) single nucleotide variant Benign rs75128515 GRCh38 Chromosome 2, 44323389: 44323389
36 PREPL NM_006036.4(PREPL): c.492T> A (p.Ala164=) single nucleotide variant Benign rs72875319 GRCh37 Chromosome 2, 44571008: 44571008
37 PREPL NM_006036.4(PREPL): c.492T> A (p.Ala164=) single nucleotide variant Benign rs72875319 GRCh38 Chromosome 2, 44343869: 44343869
38 PREPL NM_006036.4(PREPL): c.1909A> G (p.Ile637Val) single nucleotide variant Uncertain significance rs151116193 GRCh38 Chromosome 2, 44322842: 44322842
39 PREPL NM_006036.4(PREPL): c.1909A> G (p.Ile637Val) single nucleotide variant Uncertain significance rs151116193 GRCh37 Chromosome 2, 44549981: 44549981
40 PREPL NM_006036.4(PREPL): c.1746+8C> T single nucleotide variant Benign rs202009058 GRCh37 Chromosome 2, 44553843: 44553843
41 PREPL NM_006036.4(PREPL): c.1746+8C> T single nucleotide variant Benign rs202009058 GRCh38 Chromosome 2, 44326704: 44326704
42 PREPL NM_006036.4(PREPL): c.1571G> A (p.Arg524His) single nucleotide variant Uncertain significance rs768429131 GRCh38 Chromosome 2, 44326887: 44326887
43 PREPL NM_006036.4(PREPL): c.1571G> A (p.Arg524His) single nucleotide variant Uncertain significance rs768429131 GRCh37 Chromosome 2, 44554026: 44554026
44 PREPL NM_006036.4(PREPL): c.1452G> A (p.Met484Ile) single nucleotide variant Uncertain significance rs762704106 GRCh37 Chromosome 2, 44556153: 44556153
45 PREPL NM_006036.4(PREPL): c.1452G> A (p.Met484Ile) single nucleotide variant Uncertain significance rs762704106 GRCh38 Chromosome 2, 44329014: 44329014
46 PREPL NM_006036.4(PREPL): c.416A> G (p.Asn139Ser) single nucleotide variant Benign rs138555092 GRCh37 Chromosome 2, 44571084: 44571084
47 PREPL NM_006036.4(PREPL): c.416A> G (p.Asn139Ser) single nucleotide variant Benign rs138555092 GRCh38 Chromosome 2, 44343945: 44343945
48 PREPL NM_006036.4(PREPL): c.220-2A> G single nucleotide variant Likely pathogenic rs753545038 GRCh37 Chromosome 2, 44573531: 44573531
49 PREPL NM_006036.4(PREPL): c.220-2A> G single nucleotide variant Likely pathogenic rs753545038 GRCh38 Chromosome 2, 44346392: 44346392
50 PREPL NM_006036.4(PREPL): c.1865G> T (p.Arg622Leu) single nucleotide variant Likely benign rs375292548 GRCh38 Chromosome 2, 44323293: 44323293

Expression for Myasthenic Syndrome, Congenital, 22

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 22.

Pathways for Myasthenic Syndrome, Congenital, 22

GO Terms for Myasthenic Syndrome, Congenital, 22

Sources for Myasthenic Syndrome, Congenital, 22

3 CDC
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10 dbSNP
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17 ExPASy
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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