MCID: MYS056
MIFTS: 22

Myasthenic Syndrome, Congenital, 17

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 17

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 17:

Name: Myasthenic Syndrome, Congenital, 17 57 75 6
Cms17 57 12 75
Congenital Myasthenic Syndrome 17 12 15
Myasthenic Syndrome, Congenital, Type 17 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
myasthenic syndrome, congenital, 17:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 616304
Disease Ontology 12 DOID:0110674
MeSH 44 D020294

Summaries for Myasthenic Syndrome, Congenital, 17

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Myasthenic Syndrome, Congenital, 17 is LRP4 (LDL Receptor Related Protein 4). Affiliated tissues include eye, and related phenotypes are ptosis and hyporeflexia

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

Description from OMIM: 616304

Related Diseases for Myasthenic Syndrome, Congenital, 17

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 17

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis, mild
limited lateral eye movements

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Peripheral Nervous System:
hyporeflexia

Respiratory:
respiratory difficulties in infancy

Muscle Soft Tissue:
muscle weakness, proximal more than distal
difficulty walking
decremental response to repetitive nerve stimulation
type 1 fiber predominance
abnormal size and shape of synaptic endplates
more

Clinical features from OMIM:

616304

Human phenotypes related to Myasthenic Syndrome, Congenital, 17:

32
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 hyporeflexia 32 HP:0001265
3 difficulty walking 32 HP:0002355
4 feeding difficulties 32 HP:0011968

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

Anatomical Context for Myasthenic Syndrome, Congenital, 17

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

41
Eye

Publications for Myasthenic Syndrome, Congenital, 17

Variations for Myasthenic Syndrome, Congenital, 17

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

75
# Symbol AA change Variation ID SNP ID
1 LRP4 p.Glu1233Lys VAR_073695 rs786205153
2 LRP4 p.Arg1277His VAR_073696 rs746136135

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

6
(show top 50) (show all 122)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP4 NM_002334.3(LRP4): c.3697G> A (p.Glu1233Lys) single nucleotide variant Pathogenic rs786205153 GRCh38 Chromosome 11, 46875806: 46875806
2 LRP4 NM_002334.3(LRP4): c.3697G> A (p.Glu1233Lys) single nucleotide variant Pathogenic rs786205153 GRCh37 Chromosome 11, 46897357: 46897357
3 LRP4 NM_002334.3(LRP4): c.3830G> A (p.Arg1277His) single nucleotide variant Pathogenic rs746136135 GRCh38 Chromosome 11, 46875551: 46875551
4 LRP4 NM_002334.3(LRP4): c.3830G> A (p.Arg1277His) single nucleotide variant Pathogenic rs746136135 GRCh37 Chromosome 11, 46897102: 46897102
5 LRP4 NM_002334.3(LRP4): c.1551T> C (p.Ala517=) single nucleotide variant Benign rs150777198 GRCh37 Chromosome 11, 46914670: 46914670
6 LRP4 NM_002334.3(LRP4): c.1551T> C (p.Ala517=) single nucleotide variant Benign rs150777198 GRCh38 Chromosome 11, 46893119: 46893119
7 LRP4 NM_002334.3(LRP4): c.1915+6C> T single nucleotide variant Likely benign rs184555624 GRCh37 Chromosome 11, 46911822: 46911822
8 LRP4 NM_002334.3(LRP4): c.1915+6C> T single nucleotide variant Likely benign rs184555624 GRCh38 Chromosome 11, 46890271: 46890271
9 LRP4 NM_002334.3(LRP4): c.5357T> A (p.Met1786Lys) single nucleotide variant Likely benign rs61748876 GRCh37 Chromosome 11, 46884185: 46884185
10 LRP4 NM_002334.3(LRP4): c.5357T> A (p.Met1786Lys) single nucleotide variant Likely benign rs61748876 GRCh38 Chromosome 11, 46862634: 46862634
11 LRP4 NM_002334.3(LRP4): c.997G> A (p.Gly333Arg) single nucleotide variant Benign/Likely benign rs61744209 GRCh37 Chromosome 11, 46917812: 46917812
12 LRP4 NM_002334.3(LRP4): c.997G> A (p.Gly333Arg) single nucleotide variant Benign/Likely benign rs61744209 GRCh38 Chromosome 11, 46896261: 46896261
13 LRP4 NM_002334.3(LRP4): c.3817C> A (p.Arg1273=) single nucleotide variant Benign rs61746928 GRCh38 Chromosome 11, 46875564: 46875564
14 LRP4 NM_002334.3(LRP4): c.3817C> A (p.Arg1273=) single nucleotide variant Benign rs61746928 GRCh37 Chromosome 11, 46897115: 46897115
15 LRP4 NM_002334.3(LRP4): c.3407G> A (p.Arg1136Gln) single nucleotide variant Uncertain significance rs61736853 GRCh37 Chromosome 11, 46898146: 46898146
16 LRP4 NM_002334.3(LRP4): c.3407G> A (p.Arg1136Gln) single nucleotide variant Uncertain significance rs61736853 GRCh38 Chromosome 11, 46876595: 46876595
17 LRP4 NM_002334.3(LRP4): c.639C> T (p.Asp213=) single nucleotide variant Conflicting interpretations of pathogenicity rs144974139 GRCh37 Chromosome 11, 46920492: 46920492
18 LRP4 NM_002334.3(LRP4): c.639C> T (p.Asp213=) single nucleotide variant Conflicting interpretations of pathogenicity rs144974139 GRCh38 Chromosome 11, 46898941: 46898941
19 LRP4 NM_002334.3(LRP4): c.5660C> G (p.Ser1887Cys) single nucleotide variant Uncertain significance rs149082597 GRCh37 Chromosome 11, 46880592: 46880592
20 LRP4 NM_002334.3(LRP4): c.5660C> G (p.Ser1887Cys) single nucleotide variant Uncertain significance rs149082597 GRCh38 Chromosome 11, 46859041: 46859041
21 LRP4 NM_002334.3(LRP4): c.1494C> T (p.Asn498=) single nucleotide variant Benign rs61749083 GRCh37 Chromosome 11, 46916186: 46916186
22 LRP4 NM_002334.3(LRP4): c.1494C> T (p.Asn498=) single nucleotide variant Benign rs61749083 GRCh38 Chromosome 11, 46894635: 46894635
23 LRP4 NM_002334.3(LRP4): c.3620A> G (p.Asn1207Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs151234321 GRCh37 Chromosome 11, 46897434: 46897434
24 LRP4 NM_002334.3(LRP4): c.3620A> G (p.Asn1207Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs151234321 GRCh38 Chromosome 11, 46875883: 46875883
25 LRP4 NM_002334.3(LRP4): c.1048+7G> T single nucleotide variant Conflicting interpretations of pathogenicity rs148557097 GRCh37 Chromosome 11, 46917754: 46917754
26 LRP4 NM_002334.3(LRP4): c.1048+7G> T single nucleotide variant Conflicting interpretations of pathogenicity rs148557097 GRCh38 Chromosome 11, 46896203: 46896203
27 LRP4 NM_002334.3(LRP4): c.5182A> G (p.Ile1728Val) single nucleotide variant Uncertain significance rs148865136 GRCh37 Chromosome 11, 46886060: 46886060
28 LRP4 NM_002334.3(LRP4): c.5182A> G (p.Ile1728Val) single nucleotide variant Uncertain significance rs148865136 GRCh38 Chromosome 11, 46864509: 46864509
29 LRP4 NM_002334.3(LRP4): c.1787A> G (p.His596Arg) single nucleotide variant Likely benign rs138878258 GRCh37 Chromosome 11, 46911956: 46911956
30 LRP4 NM_002334.3(LRP4): c.1787A> G (p.His596Arg) single nucleotide variant Likely benign rs138878258 GRCh38 Chromosome 11, 46890405: 46890405
31 LRP4 NM_002334.3(LRP4): c.3945G> A (p.Ser1315=) single nucleotide variant Benign/Likely benign rs61733844 GRCh37 Chromosome 11, 46896635: 46896635
32 LRP4 NM_002334.3(LRP4): c.3945G> A (p.Ser1315=) single nucleotide variant Benign/Likely benign rs61733844 GRCh38 Chromosome 11, 46875084: 46875084
33 LRP4 NM_002334.3(LRP4): c.3944C> T (p.Ser1315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs150681693 GRCh37 Chromosome 11, 46896636: 46896636
34 LRP4 NM_002334.3(LRP4): c.3944C> T (p.Ser1315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs150681693 GRCh38 Chromosome 11, 46875085: 46875085
35 LRP4 NM_002334.3(LRP4): c.1435C> T (p.Arg479Cys) single nucleotide variant Uncertain significance rs143207358 GRCh37 Chromosome 11, 46916245: 46916245
36 LRP4 NM_002334.3(LRP4): c.1435C> T (p.Arg479Cys) single nucleotide variant Uncertain significance rs143207358 GRCh38 Chromosome 11, 46894694: 46894694
37 LRP4 NM_002334.3(LRP4): c.5165T> A (p.Leu1722His) single nucleotide variant Benign/Likely benign rs117936904 GRCh37 Chromosome 11, 46886077: 46886077
38 LRP4 NM_002334.3(LRP4): c.5165T> A (p.Leu1722His) single nucleotide variant Benign/Likely benign rs117936904 GRCh38 Chromosome 11, 46864526: 46864526
39 LRP4 NM_002334.3(LRP4): c.1695G> A (p.Glu565=) single nucleotide variant Benign/Likely benign rs61741501 GRCh38 Chromosome 11, 46892975: 46892975
40 LRP4 NM_002334.3(LRP4): c.1695G> A (p.Glu565=) single nucleotide variant Benign/Likely benign rs61741501 GRCh37 Chromosome 11, 46914526: 46914526
41 LRP4 NM_002334.3(LRP4): c.1501A> C (p.Asn501His) single nucleotide variant Benign/Likely benign rs72897663 GRCh37 Chromosome 11, 46916179: 46916179
42 LRP4 NM_002334.3(LRP4): c.1501A> C (p.Asn501His) single nucleotide variant Benign/Likely benign rs72897663 GRCh38 Chromosome 11, 46894628: 46894628
43 LRP4 NM_002334.3(LRP4): c.813G> A (p.Thr271=) single nucleotide variant Benign/Likely benign rs879721 GRCh37 Chromosome 11, 46918529: 46918529
44 LRP4 NM_002334.3(LRP4): c.813G> A (p.Thr271=) single nucleotide variant Benign/Likely benign rs879721 GRCh38 Chromosome 11, 46896978: 46896978
45 LRP4 NM_002334.3(LRP4): c.4837+10C> T single nucleotide variant Benign/Likely benign rs74806847 GRCh37 Chromosome 11, 46890529: 46890529
46 LRP4 NM_002334.3(LRP4): c.4837+10C> T single nucleotide variant Benign/Likely benign rs74806847 GRCh38 Chromosome 11, 46868978: 46868978
47 LRP4 NM_002334.3(LRP4): c.1117C> T (p.Arg373Trp) single nucleotide variant Benign/Likely benign rs118009068 GRCh37 Chromosome 11, 46917501: 46917501
48 LRP4 NM_002334.3(LRP4): c.1117C> T (p.Arg373Trp) single nucleotide variant Benign/Likely benign rs118009068 GRCh38 Chromosome 11, 46895950: 46895950
49 LRP4 NM_002334.3(LRP4): c.941T> C (p.Leu314Ser) single nucleotide variant Benign/Likely benign rs7926667 GRCh37 Chromosome 11, 46917868: 46917868
50 LRP4 NM_002334.3(LRP4): c.941T> C (p.Leu314Ser) single nucleotide variant Benign/Likely benign rs7926667 GRCh38 Chromosome 11, 46896317: 46896317

Expression for Myasthenic Syndrome, Congenital, 17

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

Pathways for Myasthenic Syndrome, Congenital, 17

GO Terms for Myasthenic Syndrome, Congenital, 17

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 8.96 LRP4 TP53
2 protein localization GO:0008104 8.62 LRP4 TP53

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 LRP4 TP53

Sources for Myasthenic Syndrome, Congenital, 17

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