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CMS8
MCID: MYS076
MIFTS: 25

Myasthenic Syndrome, Congenital, 8 (CMS8)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Myasthenic Syndrome, Congenital, 8

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MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 8:

Name: Myasthenic Syndrome, Congenital, 8 57 75 29 6
Myasthenic Syndrome, Congenital, with Pre- and Postsynaptic Defects 57 75 73
Cms8 57 12 75
Myasthenic Syndrome, Congenital, 8, with Pre- and Postsynaptic Defects 57 75
Congenital Myasthenic Syndrome Due to Agrin Deficiency 12 75
Congenital Myasthenic Syndrome 8 12 15
Cmsppd 57 75
Myasthenic Syndrome, Congenital, with Pre- and Postsynaptic Defects; Cmsppd 57
Myasthenic Syndrome, Congenital, Type 8, with Pre- and Postsynaptic Defects 40
Congenital Myasthenic Syndrome 8 with Pre- and Postsynaptic Defects 12
Myasthenic Syndrome, Congenital, Due to Agrin Deficiency 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in early childhood
two families have been reported (last curated april 2014)


HPO:

32
myasthenic syndrome, congenital, 8:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Immune diseases
See all MalaCards categories (disease lists)


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Summaries for Myasthenic Syndrome, Congenital, 8

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UniProtKB/Swiss-Prot : 75 Myasthenic syndrome, congenital, 8: 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. CMS8 is an autosomal recessive disease characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable.

MalaCards based summary : Myasthenic Syndrome, Congenital, 8, also known as myasthenic syndrome, congenital, with pre- and postsynaptic defects, is related to muscular disease, and has symptoms including facial paresis An important gene associated with Myasthenic Syndrome, Congenital, 8 is AGRN (Agrin). Affiliated tissues include eye, and related phenotypes are high palate and ptosis

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has material basis in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.

OMIM : 57 Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by Maselli et al., 2012). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (615120)

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Related Diseases for Myasthenic Syndrome, Congenital, 8

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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, 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular disease 9.6 AGRN TP53

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Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 8

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
extraocular muscle weakness, mild (1 patient)

Chest External Features:
narrow thorax

Respiratory:
respiratory insufficiency (1 patient)

Muscle Soft Tissue:
easy fatigability
muscle weakness, proximal
inability to run
muscle weakness may affect upper limbs
type ii fiber atrophy seen on muscle biopsy
more
Head And Neck Face:
facial weakness

Head And Neck Mouth:
high-arched palate (1 patient)


Clinical features from OMIM:

615120

Human phenotypes related to Myasthenic Syndrome, Congenital, 8:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 high palate 32 occasional (7.5%) HP:0000218
2 ptosis 32 HP:0000508
3 respiratory insufficiency 32 occasional (7.5%) HP:0002093
4 facial palsy 32 HP:0010628
5 narrow chest 32 HP:0000774
6 easy fatigability 32 HP:0003388
7 proximal muscle weakness 32 HP:0003701

UMLS symptoms related to Myasthenic Syndrome, Congenital, 8:


facial paresis
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Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 8

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Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 8

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Genetic Tests for Myasthenic Syndrome, Congenital, 8

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Genetic tests related to Myasthenic Syndrome, Congenital, 8:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 8 29 AGRN
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Anatomical Context for Myasthenic Syndrome, Congenital, 8

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MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 8:

41
Eye
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Publications for Myasthenic Syndrome, Congenital, 8

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Variations for Myasthenic Syndrome, Congenital, 8

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UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 8:

75
# Symbol AA change Variation ID SNP ID
1 AGRN p.Asn105Ile VAR_068726
2 AGRN p.Gly1709Arg VAR_068742
3 AGRN p.Val1727Phe VAR_069066
4 AGRN p.Gly76Ser VAR_071367
5 AGRN p.Gly1875Arg VAR_071369

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 8:

6 (show top 50) (show all 530)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGRN NM_198576.3(AGRN): c.5125G> C (p.Gly1709Arg) single nucleotide variant Pathogenic rs199476396 GRCh37 Chromosome 1, 985955: 985955
2 AGRN NM_198576.3(AGRN): c.5125G> C (p.Gly1709Arg) single nucleotide variant Pathogenic rs199476396 GRCh38 Chromosome 1, 1050575: 1050575
3 AGRN NM_198576.3(AGRN): c.5179G> T (p.Val1727Phe) single nucleotide variant Pathogenic rs587777298 GRCh37 Chromosome 1, 986143: 986143
4 AGRN NM_198576.3(AGRN): c.5179G> T (p.Val1727Phe) single nucleotide variant Pathogenic rs587777298 GRCh38 Chromosome 1, 1050763: 1050763
5 AGRN NM_198576.3(AGRN): c.1057C> T (p.Gln353Ter) single nucleotide variant Pathogenic rs587777299 GRCh37 Chromosome 1, 976962: 976962
6 AGRN NM_198576.3(AGRN): c.1057C> T (p.Gln353Ter) single nucleotide variant Pathogenic rs587777299 GRCh38 Chromosome 1, 1041582: 1041582
7 AGRN NM_198576.3(AGRN): c.1058A> G (p.Gln353Arg) single nucleotide variant Benign rs150359724 GRCh37 Chromosome 1, 976963: 976963
8 AGRN NM_198576.3(AGRN): c.1058A> G (p.Gln353Arg) single nucleotide variant Benign rs150359724 GRCh38 Chromosome 1, 1041583: 1041583
9 AGRN NM_198576.3(AGRN): c.2025C> G (p.Gly675=) single nucleotide variant Benign rs28484890 GRCh37 Chromosome 1, 979514: 979514
10 AGRN NM_198576.3(AGRN): c.2025C> G (p.Gly675=) single nucleotide variant Benign rs28484890 GRCh38 Chromosome 1, 1044134: 1044134
11 AGRN NM_198576.3(AGRN): c.2183A> T (p.Glu728Val) single nucleotide variant Benign rs113288277 GRCh37 Chromosome 1, 979748: 979748
12 AGRN NM_198576.3(AGRN): c.2183A> T (p.Glu728Val) single nucleotide variant Benign rs113288277 GRCh38 Chromosome 1, 1044368: 1044368
13 AGRN NM_198576.3(AGRN): c.2406C> T (p.Gly802=) single nucleotide variant Benign rs75774767 GRCh37 Chromosome 1, 980773: 980773
14 AGRN NM_198576.3(AGRN): c.2406C> T (p.Gly802=) single nucleotide variant Benign rs75774767 GRCh38 Chromosome 1, 1045393: 1045393
15 AGRN NM_198576.3(AGRN): c.261C> T (p.Asp87=) single nucleotide variant Benign rs6657048 GRCh37 Chromosome 1, 957640: 957640
16 AGRN NM_198576.3(AGRN): c.261C> T (p.Asp87=) single nucleotide variant Benign rs6657048 GRCh38 Chromosome 1, 1022260: 1022260
17 AGRN NM_198576.3(AGRN): c.3264G> C (p.Leu1088Phe) single nucleotide variant Benign/Likely benign rs150132566 GRCh37 Chromosome 1, 982213: 982213
18 AGRN NM_198576.3(AGRN): c.3264G> C (p.Leu1088Phe) single nucleotide variant Benign/Likely benign rs150132566 GRCh38 Chromosome 1, 1046833: 1046833
19 AGRN NM_198576.3(AGRN): c.3404A> G (p.Gln1135Arg) single nucleotide variant Benign rs142416636 GRCh37 Chromosome 1, 982722: 982722
20 AGRN NM_198576.3(AGRN): c.3404A> G (p.Gln1135Arg) single nucleotide variant Benign rs142416636 GRCh38 Chromosome 1, 1047342: 1047342
21 AGRN NM_198576.3(AGRN): c.3465T> C (p.Ala1155=) single nucleotide variant Benign/Likely benign rs146358566 GRCh37 Chromosome 1, 982783: 982783
22 AGRN NM_198576.3(AGRN): c.3465T> C (p.Ala1155=) single nucleotide variant Benign/Likely benign rs146358566 GRCh38 Chromosome 1, 1047403: 1047403
23 AGRN NM_198576.3(AGRN): c.3570C> T (p.Arg1190=) single nucleotide variant Benign rs75361935 GRCh37 Chromosome 1, 983006: 983006
24 AGRN NM_198576.3(AGRN): c.3570C> T (p.Arg1190=) single nucleotide variant Benign rs75361935 GRCh38 Chromosome 1, 1047626: 1047626
25 AGRN NM_198576.3(AGRN): c.3866C> T (p.Pro1289Leu) single nucleotide variant Benign/Likely benign rs139294803 GRCh37 Chromosome 1, 983506: 983506
26 AGRN NM_198576.3(AGRN): c.3866C> T (p.Pro1289Leu) single nucleotide variant Benign/Likely benign rs139294803 GRCh38 Chromosome 1, 1048126: 1048126
27 AGRN NM_198576.3(AGRN): c.3964C> T (p.Arg1322Trp) single nucleotide variant Benign/Likely benign rs184970403 GRCh37 Chromosome 1, 983604: 983604
28 AGRN NM_198576.3(AGRN): c.3964C> T (p.Arg1322Trp) single nucleotide variant Benign/Likely benign rs184970403 GRCh38 Chromosome 1, 1048224: 1048224
29 AGRN NM_198576.3(AGRN): c.3972G> A (p.Pro1324=) single nucleotide variant Benign rs201483077 GRCh37 Chromosome 1, 983612: 983612
30 AGRN NM_198576.3(AGRN): c.3972G> A (p.Pro1324=) single nucleotide variant Benign rs201483077 GRCh38 Chromosome 1, 1048232: 1048232
31 AGRN NM_198576.3(AGRN): c.4452C> T (p.Thr1484=) single nucleotide variant Benign rs75767981 GRCh37 Chromosome 1, 984769: 984769
32 AGRN NM_198576.3(AGRN): c.4452C> T (p.Thr1484=) single nucleotide variant Benign rs75767981 GRCh38 Chromosome 1, 1049389: 1049389
33 AGRN NM_198576.3(AGRN): c.4540G> A (p.Ala1514Thr) single nucleotide variant Benign/Likely benign rs111818381 GRCh37 Chromosome 1, 984971: 984971
34 AGRN NM_198576.3(AGRN): c.4540G> A (p.Ala1514Thr) single nucleotide variant Benign/Likely benign rs111818381 GRCh38 Chromosome 1, 1049591: 1049591
35 AGRN NM_198576.3(AGRN): c.4740C> T (p.Arg1580=) single nucleotide variant Benign rs115019873 GRCh37 Chromosome 1, 985171: 985171
36 AGRN NM_198576.3(AGRN): c.4740C> T (p.Arg1580=) single nucleotide variant Benign rs115019873 GRCh38 Chromosome 1, 1049791: 1049791
37 AGRN NM_198576.3(AGRN): c.4996G> A (p.Val1666Ile) single nucleotide variant Benign rs17160775 GRCh37 Chromosome 1, 985826: 985826
38 AGRN NM_198576.3(AGRN): c.4996G> A (p.Val1666Ile) single nucleotide variant Benign rs17160775 GRCh38 Chromosome 1, 1050446: 1050446
39 AGRN NM_198576.3(AGRN): c.5070C> T (p.Phe1690=) single nucleotide variant Benign rs17160776 GRCh37 Chromosome 1, 985900: 985900
40 AGRN NM_198576.3(AGRN): c.5070C> T (p.Phe1690=) single nucleotide variant Benign rs17160776 GRCh38 Chromosome 1, 1050520: 1050520
41 AGRN NM_198576.3(AGRN): c.5353G> A (p.Asp1785Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144245019 GRCh37 Chromosome 1, 986732: 986732
42 AGRN NM_198576.3(AGRN): c.5353G> A (p.Asp1785Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144245019 GRCh38 Chromosome 1, 1051352: 1051352
43 AGRN NM_198576.3(AGRN): c.5598C> T (p.Thr1866=) single nucleotide variant Benign rs17778478 GRCh37 Chromosome 1, 987142: 987142
44 AGRN NM_198576.3(AGRN): c.5598C> T (p.Thr1866=) single nucleotide variant Benign rs17778478 GRCh38 Chromosome 1, 1051762: 1051762
45 AGRN NM_198576.3(AGRN): c.5726G> C (p.Ser1909Thr) single nucleotide variant Benign/Likely benign rs74685771 GRCh37 Chromosome 1, 989207: 989207
46 AGRN NM_198576.3(AGRN): c.5726G> C (p.Ser1909Thr) single nucleotide variant Benign/Likely benign rs74685771 GRCh38 Chromosome 1, 1053827: 1053827
47 AGRN NM_198576.3(AGRN): c.804C> T (p.Ala268=) single nucleotide variant Benign rs113789806 GRCh37 Chromosome 1, 976629: 976629
48 AGRN NM_198576.3(AGRN): c.804C> T (p.Ala268=) single nucleotide variant Benign rs113789806 GRCh38 Chromosome 1, 1041249: 1041249
49 AGRN NM_198576.3(AGRN): c.2457G> C (p.Gly819=) single nucleotide variant Benign/Likely benign rs112039851 GRCh38 Chromosome 1, 1045444: 1045444
50 AGRN NM_198576.3(AGRN): c.2457G> C (p.Gly819=) single nucleotide variant Benign/Likely benign rs112039851 GRCh37 Chromosome 1, 980824: 980824
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Expression for Myasthenic Syndrome, Congenital, 8

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Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 8.
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Pathways for Myasthenic Syndrome, Congenital, 8

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GO Terms for Myasthenic Syndrome, Congenital, 8

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Biological processes related to Myasthenic Syndrome, Congenital, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 8.62 DTL TP53
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Sources for Myasthenic Syndrome, Congenital, 8

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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