Myasthenic Syndrome, Congenital, 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MYS076 MIFTS: 23	Myasthenic Syndrome, Congenital, 8 Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases
Genes Variations Symptoms & Phenotypes Download Expand all tables

Sources

Aliases & Classifications for Myasthenic Syndrome, Congenital, 8

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 Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615120

Disease Ontology ¹² DOID:0110657

MedGen ⁴² C3808739 CN186031

MeSH ⁴⁴ D020294

SNOMED-CT via HPO ⁶⁹ 258211005 27272007 11934000 more

UMLS ⁷³ C3808739

Sources

Summaries for Myasthenic Syndrome, Congenital, 8

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, is also known as myasthenic syndrome, congenital, with pre- and postsynaptic defects, and has symptoms including facial paresis An important gene associated with Myasthenic Syndrome, Congenital, 8 is AGRN (Agrin). 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)

Sources

Related Diseases for Myasthenic Syndrome, Congenital, 8

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

Sources

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 8

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	narrow chest ³²		HP:0000774
4	respiratory insufficiency ³²	occasional (7.5%)	HP:0002093
5	easy fatigability ³²		HP:0003388
6	proximal muscle weakness ³²		HP:0003701
7	facial palsy ³²		HP:0010628

UMLS symptoms related to Myasthenic Syndrome, Congenital, 8:

facial paresis

Sources

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 8

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

Sources

Genetic Tests for Myasthenic Syndrome, Congenital, 8

Genetic tests related to Myasthenic Syndrome, Congenital, 8:

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

Sources

Anatomical Context for Myasthenic Syndrome, Congenital, 8

Sources

Publications for Myasthenic Syndrome, Congenital, 8

Sources

Genes for Myasthenic Syndrome, Congenital, 8

Genes related to Myasthenic Syndrome, Congenital, 8 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AGRN	Agrin	Protein Coding	1330.39	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	19631309 20301347 22205389
2	TP53	Tumor Protein P53	Protein Coding	13.4	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	DTL	Denticleless E3 Ubiquitin Protein Ligase Homolog	Protein Coding	7.64	DISEASES inferred ¹⁵

Sources

Variations for Myasthenic Syndrome, Congenital, 8

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

⁷⁵

#	Symbol	AA change	Variation 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 376)

#	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.2457G> C (p.Gly819=)	single nucleotide variant	Benign/Likely benign	rs112039851	GRCh38	Chromosome 1, 1045444: 1045444
8	AGRN	NM_198576.3(AGRN): c.2457G> C (p.Gly819=)	single nucleotide variant	Benign/Likely benign	rs112039851	GRCh37	Chromosome 1, 980824: 980824
9	AGRN	NM_198576.3(AGRN): c.67G> C (p.Val23Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201073369	GRCh37	Chromosome 1, 955619: 955619
10	AGRN	NM_198576.3(AGRN): c.67G> C (p.Val23Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201073369	GRCh38	Chromosome 1, 1020239: 1020239
11	AGRN	NM_198576.3(AGRN): c.1993G> A (p.Glu665Lys)	single nucleotide variant	Benign	rs143324306	GRCh37	Chromosome 1, 979397: 979397
12	AGRN	NM_198576.3(AGRN): c.1993G> A (p.Glu665Lys)	single nucleotide variant	Benign	rs143324306	GRCh38	Chromosome 1, 1044017: 1044017
13	AGRN	NM_198576.3(AGRN): c.2690C> T (p.Ala897Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs116836855	GRCh37	Chromosome 1, 981353: 981353
14	AGRN	NM_198576.3(AGRN): c.2690C> T (p.Ala897Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs116836855	GRCh38	Chromosome 1, 1045973: 1045973
15	AGRN	NM_198576.3(AGRN): c.4639G> A (p.Glu1547Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2799068	GRCh38	Chromosome 1, 1049690: 1049690
16	AGRN	NM_198576.3(AGRN): c.4639G> A (p.Glu1547Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2799068	GRCh37	Chromosome 1, 985070: 985070
17	AGRN	NM_198576.3(AGRN): c.729C> G (p.Gly243=)	single nucleotide variant	Benign	rs191270495	GRCh38	Chromosome 1, 1041174: 1041174
18	AGRN	NM_198576.3(AGRN): c.729C> G (p.Gly243=)	single nucleotide variant	Benign	rs191270495	GRCh37	Chromosome 1, 976554: 976554
19	AGRN	NM_198576.3(AGRN): c.738C> T (p.Asp246=)	single nucleotide variant	Likely benign	rs536085218	GRCh38	Chromosome 1, 1041183: 1041183
20	AGRN	NM_198576.3(AGRN): c.738C> T (p.Asp246=)	single nucleotide variant	Likely benign	rs536085218	GRCh37	Chromosome 1, 976563: 976563
21	AGRN	NM_198576.3(AGRN): c.773C> T (p.Thr258Ile)	single nucleotide variant	Benign/Likely benign	rs200607541	GRCh38	Chromosome 1, 1041218: 1041218
22	AGRN	NM_198576.3(AGRN): c.773C> T (p.Thr258Ile)	single nucleotide variant	Benign/Likely benign	rs200607541	GRCh37	Chromosome 1, 976598: 976598
23	AGRN	NM_198576.3(AGRN): c.1123G> T (p.Ala375Ser)	single nucleotide variant	Benign/Likely benign	rs138031468	GRCh38	Chromosome 1, 1041648: 1041648
24	AGRN	NM_198576.3(AGRN): c.1123G> T (p.Ala375Ser)	single nucleotide variant	Benign/Likely benign	rs138031468	GRCh37	Chromosome 1, 977028: 977028
25	AGRN	NM_198576.3(AGRN): c.1434G> A (p.Thr478=)	single nucleotide variant	Benign	rs147346337	GRCh38	Chromosome 1, 1043288: 1043288
26	AGRN	NM_198576.3(AGRN): c.1434G> A (p.Thr478=)	single nucleotide variant	Benign	rs147346337	GRCh37	Chromosome 1, 978668: 978668
27	AGRN	NM_198576.3(AGRN): c.1528G> A (p.Gly510Ser)	single nucleotide variant	Benign/Likely benign	rs138288952	GRCh38	Chromosome 1, 1043382: 1043382
28	AGRN	NM_198576.3(AGRN): c.1528G> A (p.Gly510Ser)	single nucleotide variant	Benign/Likely benign	rs138288952	GRCh37	Chromosome 1, 978762: 978762
29	AGRN	NM_198576.3(AGRN): c.1660G> A (p.Val554Met)	single nucleotide variant	Benign/Likely benign	rs79016973	GRCh38	Chromosome 1, 1043594: 1043594
30	AGRN	NM_198576.3(AGRN): c.1660G> A (p.Val554Met)	single nucleotide variant	Benign/Likely benign	rs79016973	GRCh37	Chromosome 1, 978974: 978974
31	AGRN	NM_198576.3(AGRN): c.2067G> A (p.Gln689=)	single nucleotide variant	Benign	rs139886237	GRCh38	Chromosome 1, 1044176: 1044176
32	AGRN	NM_198576.3(AGRN): c.2067G> A (p.Gln689=)	single nucleotide variant	Benign	rs139886237	GRCh37	Chromosome 1, 979556: 979556
33	AGRN	NM_198576.3(AGRN): c.2266G> A (p.Ala756Thr)	single nucleotide variant	Likely benign	rs140764403	GRCh38	Chromosome 1, 1045172: 1045172
34	AGRN	NM_198576.3(AGRN): c.2266G> A (p.Ala756Thr)	single nucleotide variant	Likely benign	rs140764403	GRCh37	Chromosome 1, 980552: 980552
35	AGRN	NM_198576.3(AGRN): c.2271G> A (p.Pro757=)	single nucleotide variant	Likely benign	rs150123719	GRCh38	Chromosome 1, 1045177: 1045177
36	AGRN	NM_198576.3(AGRN): c.2271G> A (p.Pro757=)	single nucleotide variant	Likely benign	rs150123719	GRCh37	Chromosome 1, 980557: 980557
37	AGRN	NM_198576.3(AGRN): c.2555A> G (p.Gln852Arg)	single nucleotide variant	Benign	rs9697293	GRCh38	Chromosome 1, 1045751: 1045751
38	AGRN	NM_198576.3(AGRN): c.2555A> G (p.Gln852Arg)	single nucleotide variant	Benign	rs9697293	GRCh37	Chromosome 1, 981131: 981131
39	AGRN	NM_198576.3(AGRN): c.2682C> T (p.Asp894=)	single nucleotide variant	Benign	rs118105080	GRCh38	Chromosome 1, 1045965: 1045965
40	AGRN	NM_198576.3(AGRN): c.2682C> T (p.Asp894=)	single nucleotide variant	Benign	rs118105080	GRCh37	Chromosome 1, 981345: 981345
41	AGRN	NM_198576.3(AGRN): c.3003C> T (p.Pro1001=)	single nucleotide variant	Likely benign	rs375208869	GRCh38	Chromosome 1, 1046488: 1046488
42	AGRN	NM_198576.3(AGRN): c.3003C> T (p.Pro1001=)	single nucleotide variant	Likely benign	rs375208869	GRCh37	Chromosome 1, 981868: 981868
43	AGRN	NM_198576.3(AGRN): c.3077C> A (p.Thr1026Asn)	single nucleotide variant	Benign/Likely benign	rs3813188	GRCh38	Chromosome 1, 1046562: 1046562
44	AGRN	NM_198576.3(AGRN): c.3077C> A (p.Thr1026Asn)	single nucleotide variant	Benign/Likely benign	rs3813188	GRCh37	Chromosome 1, 981942: 981942
45	AGRN	NM_198576.3(AGRN): c.3719C> T (p.Pro1240Leu)	single nucleotide variant	Likely benign	rs142620337	GRCh38	Chromosome 1, 1047863: 1047863
46	AGRN	NM_198576.3(AGRN): c.3719C> T (p.Pro1240Leu)	single nucleotide variant	Likely benign	rs142620337	GRCh37	Chromosome 1, 983243: 983243
47	AGRN	NM_198576.3(AGRN): c.4285C> T (p.Arg1429Cys)	single nucleotide variant	Benign/Likely benign	rs201346452	GRCh38	Chromosome 1, 1049046: 1049046
48	AGRN	NM_198576.3(AGRN): c.4285C> T (p.Arg1429Cys)	single nucleotide variant	Benign/Likely benign	rs201346452	GRCh37	Chromosome 1, 984426: 984426
49	AGRN	NM_198576.3(AGRN): c.4352C> T (p.Pro1451Leu)	single nucleotide variant	Likely benign	rs144620006	GRCh38	Chromosome 1, 1049289: 1049289
50	AGRN	NM_198576.3(AGRN): c.4352C> T (p.Pro1451Leu)	single nucleotide variant	Likely benign	rs144620006	GRCh37	Chromosome 1, 984669: 984669

Sources

Expression for Myasthenic Syndrome, Congenital, 8

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

Sources

Pathways for Myasthenic Syndrome, Congenital, 8

Sources

GO Terms for Myasthenic Syndrome, Congenital, 8

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

Sources

Sources for Myasthenic Syndrome, Congenital, 8

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia