CMS17
MCID: MYS056
MIFTS: 36

Myasthenic Syndrome, Congenital, 17 (CMS17)

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 17

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 17:

Name: Myasthenic Syndrome, Congenital, 17 56 73 29 6
Cms17 56 12 73
Congenital Myasthenic Syndrome 17 12 15
Myasthenic Syndrome, Congenital, Type 17 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one family has been reported (last curated april 2015)


HPO:

31
myasthenic syndrome, congenital, 17:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110674
OMIM 56 616304
OMIM Phenotypic Series 56 PS601462
MeSH 43 D020294

Summaries for Myasthenic Syndrome, Congenital, 17

UniProtKB/Swiss-Prot : 73 Myasthenic syndrome, congenital, 17: 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 affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort.

MalaCards based summary : Myasthenic Syndrome, Congenital, 17, also known as cms17, is related to sclerosteosis 2 and sclerosteosis. An important gene associated with Myasthenic Syndrome, Congenital, 17 is LRP4 (LDL Receptor Related Protein 4), and among its related pathways/superpathways is Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include eye, and related phenotypes are muscle weakness and feeding difficulties

Disease Ontology : 12 A congenital myasthenic syndrome that has material basis in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.

More information from OMIM: 616304 PS601462

Related Diseases for Myasthenic Syndrome, Congenital, 17

Diseases in the Congenital Myasthenic Syndrome family:

Myasthenic Syndrome, Congenital, 10 Myasthenic Syndrome, Congenital, 5
Myasthenic Syndrome, Congenital, 12 Myasthenic Syndrome, Congenital, 16
Myasthenic Syndrome, Congenital, 13 Myasthenic Syndrome, Congenital, 8
Myasthenic Syndrome, Congenital, 22 Myasthenic Syndrome, Congenital, 15
Myasthenic Syndrome, Congenital, 14 Myasthenic Syndrome, Congenital, 17
Myasthenic Syndrome, Congenital, 18 Myasthenic Syndrome, Congenital, 19

Diseases related to Myasthenic Syndrome, Congenital, 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 sclerosteosis 2 10.1 LRP4-AS1 LRP4
2 sclerosteosis 10.1 LRP4-AS1 LRP4
3 cenani-lenz syndactyly syndrome 10.1 LRP4-AS1 LRP4
4 richter's syndrome 10.1 TP53 LRP4
5 borst-jadassohn intraepidermal carcinoma 9.9 TP53 CD8A
6 megaesophagus 9.9 TP53 CD8A
7 anus cancer 9.9 TP53 CD8A
8 t-cell adult acute lymphocytic leukemia 9.9 TP53 CD8A
9 anogenital venereal wart 9.9 TP53 CD8A
10 lichen disease 9.9 TP53 CD8A
11 fallopian tube disease 9.9 TP53 CD8A
12 penile disease 9.9 TP53 CD8A
13 vaginal disease 9.9 TP53 CD8A
14 herpangina 9.9 TP53 CD8A
15 short syndrome 9.9 TP53 CD8A
16 anus disease 9.9 TP53 CD8A
17 rectal disease 9.9 TP53 CD8A
18 pleural cancer 9.9 TP53 CD8A
19 salivary gland disease 9.8 TP53 CD8A
20 hypotrichosis 1 9.8 TP53 CD8A
21 epidermodysplasia verruciformis 1 9.8 TP53 CD8A
22 pleural disease 9.8 TP53 CD8A
23 testicular disease 9.8 TP53 CD8A
24 stomach disease 9.8 TP53 CD8A
25 lymphoblastic lymphoma 9.8 TP53 CD8A
26 mature b-cell neoplasm 9.8 TP53 CD8A
27 sezary's disease 9.8 TP53 CD8A
28 leukocyte disease 9.7 TP53 CD8A
29 ovary epithelial cancer 9.7 TP53 CD8A
30 malignant ovarian surface epithelial-stromal neoplasm 9.7 TP53 CD8A
31 bone marrow cancer 9.7 TP53 CD8A
32 thymus gland disease 9.6 TP53 LRP4 CD8A
33 thymus cancer 9.6 TP53 LRP4 CD8A
34 peripheral t-cell lymphoma 9.6 TP53 CD8A
35 congenital myasthenic syndrome 9.6 TP53 LRP4 CD8A
36 gliosarcoma 9.5 TP53 CD8A
37 ocular cancer 9.4 TP53 CD8A

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 17:



Diseases related to Myasthenic Syndrome, Congenital, 17

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 17

Human phenotypes related to Myasthenic Syndrome, Congenital, 17:

31
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 feeding difficulties 31 HP:0011968
3 ptosis 31 HP:0000508
4 hyporeflexia 31 HP:0001265
5 difficulty walking 31 HP:0002355

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
difficulty walking
type 1 fiber predominance
muscle weakness, proximal more than distal
decremental response to repetitive nerve stimulation
abnormal size and shape of synaptic endplates
more
Head And Neck Eyes:
ptosis, mild
limited lateral eye movements

Neurologic Peripheral Nervous System:
hyporeflexia

Respiratory:
respiratory difficulties in infancy

Clinical features from OMIM:

616304

GenomeRNAi Phenotypes related to Myasthenic Syndrome, Congenital, 17 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.32 KCNJ11
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.32 KCNJ11
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-125 9.32 KCNJ11
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-131 9.32 ADRA2A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.32 KCNJ11
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.32 KCNJ11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.32 KCNJ11
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.32 ADRA2A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.32 ADRA2A
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-45 9.32 KCNJ11

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 17

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 17

Genetic Tests for Myasthenic Syndrome, Congenital, 17

Genetic tests related to Myasthenic Syndrome, Congenital, 17:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 17 29 LRP4

Anatomical Context for Myasthenic Syndrome, Congenital, 17

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 17:

40
Eye

Publications for Myasthenic Syndrome, Congenital, 17

Articles related to Myasthenic Syndrome, Congenital, 17:

# Title Authors PMID Year
1
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. 6 56
24234652 2014
2
LRP4 is critical for neuromuscular junction maintenance. 56
25319686 2014
3
Congenital Myasthenic Syndromes 6
20301347 2003
4
Peptides derived from a wild-type murine proto-oncogene c-erbB-2/HER2/neu can induce CTL and tumor suppression in syngeneic hosts. 61
9233630 1997
5
Irrelevance of the mutated p53 gene product to tumor rejection antigen in 3-methylcholanthrene-induced fibrosarcomas. 61
21544462 1996

Variations for Myasthenic Syndrome, Congenital, 17

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 17:

6 (show top 50) (show all 165) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRP4 NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter)SNV Pathogenic 576661 rs1565785959 11:46900815-46900815 11:46879264-46879264
2 LRP4 NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys)SNV Pathogenic 189820 rs786205153 11:46897357-46897357 11:46875806-46875806
3 LRP4 NM_002334.4(LRP4):c.4890C>T (p.Ala1630=)SNV Conflicting interpretations of pathogenicity 772479 11:46890212-46890212 11:46868661-46868661
4 LRP4 NM_002334.4(LRP4):c.759C>T (p.Asp253=)SNV Conflicting interpretations of pathogenicity 779781 11:46920146-46920146 11:46898595-46898595
5 LRP4 NM_002334.4(LRP4):c.1491C>T (p.Leu497=)SNV Conflicting interpretations of pathogenicity 772181 11:46916189-46916189 11:46894638-46894638
6 LRP4 NM_002334.4(LRP4):c.1551T>C (p.Ala517=)SNV Conflicting interpretations of pathogenicity 194206 rs150777198 11:46914670-46914670 11:46893119-46893119
7 LRP4 NM_002334.4(LRP4):c.639C>T (p.Asp213=)SNV Conflicting interpretations of pathogenicity 281776 rs144974139 11:46920492-46920492 11:46898941-46898941
8 LRP4 NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)SNV Conflicting interpretations of pathogenicity 282957 rs149082597 11:46880592-46880592 11:46859041-46859041
9 LRP4 NM_002334.4(LRP4):c.2815-6T>GSNV Conflicting interpretations of pathogenicity 285913 rs372210790 11:46900872-46900872 11:46879321-46879321
10 LRP4 NM_002334.4(LRP4):c.3817C>A (p.Arg1273=)SNV Conflicting interpretations of pathogenicity 211405 rs61746928 11:46897115-46897115 11:46875564-46875564
11 LRP4 NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)SNV Conflicting interpretations of pathogenicity 286738 rs151234321 11:46897434-46897434 11:46875883-46875883
12 LRP4 NM_002334.4(LRP4):c.1048+7G>TSNV Conflicting interpretations of pathogenicity 288216 rs148557097 11:46917754-46917754 11:46896203-46896203
13 LRP4 NM_002334.4(LRP4):c.1787A>G (p.His596Arg)SNV Conflicting interpretations of pathogenicity 290762 rs138878258 11:46911956-46911956 11:46890405-46890405
14 LRP4 NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)SNV Conflicting interpretations of pathogenicity 304857 rs140495790 11:46893155-46893155 11:46871604-46871604
15 LRP4 NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)SNV Conflicting interpretations of pathogenicity 304864 rs150681693 11:46896636-46896636 11:46875085-46875085
16 LRP4 NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser)SNV Conflicting interpretations of pathogenicity 30410 rs387906883 11:46897497-46897497 11:46875946-46875946
17 LRP4 NM_002334.4(LRP4):c.4536A>T (p.Thr1512=)SNV Conflicting interpretations of pathogenicity 304858 rs144169411 11:46894698-46894698 11:46873147-46873147
18 LRP4 NM_002334.4(LRP4):c.1284C>T (p.Pro428=)SNV Conflicting interpretations of pathogenicity 304889 rs374136996 11:46916742-46916742 11:46895191-46895191
19 LRP4 NM_002334.4(LRP4):c.1194A>G (p.Glu398=)SNV Conflicting interpretations of pathogenicity 497266 rs138589242 11:46916832-46916832 11:46895281-46895281
20 LRP4 NM_002334.4(LRP4):c.3429G>A (p.Thr1143=)SNV Conflicting interpretations of pathogenicity 704589 11:46898124-46898124 11:46876573-46876573
21 LRP4 NM_002334.4(LRP4):c.2535A>C (p.Thr845=)SNV Conflicting interpretations of pathogenicity 704567 11:46905499-46905499 11:46883948-46883948
22 LRP4 NM_002334.4(LRP4):c.570C>T (p.Pro190=)SNV Conflicting interpretations of pathogenicity 497270 rs147353838 11:46920561-46920561 11:46899010-46899010
23 LRP4 NM_002334.4(LRP4):c.2868G>A (p.Glu956=)SNV Conflicting interpretations of pathogenicity 535807 rs145460760 11:46900813-46900813 11:46879262-46879262
24 LRP4 NM_002334.4(LRP4):c.5520T>C (p.His1840=)SNV Conflicting interpretations of pathogenicity 304846 rs144350829 11:46880732-46880732 11:46859181-46859181
25 LRP4 NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)SNV Conflicting interpretations of pathogenicity 304873 rs61742871 11:46900530-46900530 11:46878979-46878979
26 LRP4 NM_002334.4(LRP4):c.4923C>T (p.Asp1641=)SNV Conflicting interpretations of pathogenicity 304852 rs150734530 11:46890179-46890179 11:46868628-46868628
27 LRP4 NM_002334.4(LRP4):c.636C>T (p.Gly212=)SNV Conflicting interpretations of pathogenicity 392169 rs17848239 11:46920495-46920495 11:46898944-46898944
28 LRP4 NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln)SNV Uncertain significance 373466 rs770309253 11:46880739-46880739 11:46859188-46859188
29 LRP4 NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly)SNV Uncertain significance 304845 rs377204138 11:46880602-46880602 11:46859051-46859051
30 LRP4 NM_002334.4(LRP4):c.2318G>A (p.Arg773His)SNV Uncertain significance 304880 rs374890595 11:46907982-46907982 11:46886431-46886431
31 LRP4 NM_002334.4(LRP4):c.1769G>A (p.Arg590His)SNV Uncertain significance 304882 rs149435615 11:46911974-46911974 11:46890423-46890423
32 LRP4 NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly)SNV Uncertain significance 535800 rs1032020389 11:46916771-46916771 11:46895220-46895220
33 LRP4 NM_002334.4(LRP4):c.539A>G (p.Glu180Gly)SNV Uncertain significance 535802 rs201957426 11:46920946-46920946 11:46899395-46899395
34 LRP4 NM_002334.4(LRP4):c.3428C>T (p.Thr1143Met)SNV Uncertain significance 535803 rs751933622 11:46898125-46898125 11:46876574-46876574
35 LRP4 NM_002334.4(LRP4):c.1366C>T (p.His456Tyr)SNV Uncertain significance 535795 rs1555174047 11:46916314-46916314 11:46894763-46894763
36 LRP4 NM_002334.4(LRP4):c.505G>A (p.Gly169Ser)SNV Uncertain significance 535797 rs201585639 11:46920980-46920980 11:46899429-46899429
37 LRP4 NM_002334.4(LRP4):c.563C>T (p.Ala188Val)SNV Uncertain significance 435786 rs772245536 11:46920568-46920568 11:46899017-46899017
38 LRP4 NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)SNV Uncertain significance 450674 rs146362081 11:46890204-46890204 11:46868653-46868653
39 LRP4 NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala)SNV Uncertain significance 467790 rs200506943 11:46894729-46894729 11:46873178-46873178
40 LRP4 NM_002334.4(LRP4):c.1126G>A (p.Val376Met)SNV Uncertain significance 467778 rs1243051904 11:46917492-46917492 11:46895941-46895941
41 LRP4 NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln)SNV Uncertain significance 467792 rs138238230 11:46889563-46889563 11:46868012-46868012
42 LRP4 NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln)SNV Uncertain significance 467789 rs764079526 11:46894741-46894741 11:46873190-46873190
43 LRP4 NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser)SNV Uncertain significance 467788 rs771126504 11:46897013-46897013 11:46875462-46875462
44 LRP4 NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu)indel Uncertain significance 467786 rs1555172311 11:46898771-46898772 11:46877220-46877221
45 LRP4 NM_002334.4(LRP4):c.5414_5416AGA[1] (p.Lys1806del)short repeat Uncertain significance 582866 rs769465803 11:46880833-46880835 11:46859282-46859284
46 LRP4 NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe)SNV Uncertain significance 569902 rs1447336134 11:46886048-46886048 11:46864497-46864497
47 LRP4 NM_002334.4(LRP4):c.4990A>G (p.Met1664Val)SNV Uncertain significance 569474 rs1455143794 11:46889627-46889627 11:46868076-46868076
48 LRP4 NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser)SNV Uncertain significance 573237 rs765240067 11:46896436-46896436 11:46874885-46874885
49 LRP4 NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn)SNV Uncertain significance 567984 rs753109967 11:46907913-46907913 11:46886362-46886362
50 LRP4 NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg)SNV Uncertain significance 576132 rs1382055371 11:46911058-46911058 11:46889507-46889507

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 17:

73
# Symbol AA change Variation ID SNP ID
1 LRP4 p.Glu1233Lys VAR_073695 rs786205153
2 LRP4 p.Arg1277His VAR_073696 rs746136135

Expression for Myasthenic Syndrome, Congenital, 17

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 17.

Pathways for Myasthenic Syndrome, Congenital, 17

Pathways related to Myasthenic Syndrome, Congenital, 17 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.37 KCNJ11 ADRA2A

GO Terms for Myasthenic Syndrome, Congenital, 17

Cellular components related to Myasthenic Syndrome, Congenital, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane raft GO:0044853 8.62 LRP4 CD8A

Biological processes related to Myasthenic Syndrome, Congenital, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.37 TP53 LRP4
2 protein localization GO:0008104 9.32 TP53 LRP4
3 Ras protein signal transduction GO:0007265 9.26 TP53 ADRA2A
4 regulation of insulin secretion GO:0050796 9.16 KCNJ11 ADRA2A
5 response to ischemia GO:0002931 8.96 TP53 KCNJ11
6 negative regulation of insulin secretion GO:0046676 8.62 KCNJ11 ADRA2A

Molecular functions related to Myasthenic Syndrome, Congenital, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor tyrosine kinase binding GO:0030971 8.62 TP53 LRP4

Sources for Myasthenic Syndrome, Congenital, 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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