Myasthenic Syndrome, Congenital, 14 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMS14 MCID: MYS078 MIFTS: 43	Myasthenic Syndrome, Congenital, 14 (CMS14) Categories: Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Myasthenic Syndrome, Congenital, 14

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 14:

Name: Myasthenic Syndrome, Congenital, 14 ⁵⁷ ⁷⁵ ²⁹ ⁶

Cmsta3 ⁵⁷ ¹² ⁷⁵

Cms14 ⁵⁷ ¹² ⁷⁵

Myasthenic Syndrome, Congenital, 14, with Tubular Aggregates ⁵⁷ ⁷⁵

Myasthenic Syndrome, Congenital, with Tubular Aggregates 3 ⁵⁷ ⁷³

Congenital Myasthenic Syndrome 14 ¹² ¹⁵

Myasthenic Syndrome, Congenital, with Tubular Aggregates 3; Cmsta3 ⁵⁷

Myasthenic Syndrome, Congenital, Type 14, with Tubular Aggregates ⁴⁰

Myasthenic Syndrome, Congenital, with Tubular Aggregates, 3 ⁷⁵

Congenital Myasthenic Syndrome 14, with Tubular Aggregates ¹²

Congenital Myasthenic Syndrome with Tubular Aggregates 3 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first decade
some patients may become wheelchair-bound
favorable response to anticholinesterase medication
three unrelated families have been reported (last curated february 2015)

HPO:

³²

myasthenic syndrome, congenital, 14:
Onset and clinical course slow progression
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)

External Ids:

OMIM ⁵⁷ 616228

Disease Ontology ¹² DOID:0110669

MedGen ⁴² C4015597 CN226296

MeSH ⁴⁴ D020294

UMLS ⁷³ C4015597

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Summaries for Myasthenic Syndrome, Congenital, 14

UniProtKB/Swiss-Prot : ⁷⁵ Myasthenic syndrome, congenital, 14: 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. CMS14 is an autosomal recessive form characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound.

MalaCards based summary : Myasthenic Syndrome, Congenital, 14, also known as cmsta3, is related to spinal chordoma and hemimegalencephaly, and has symptoms including waddling gait An important gene associated with Myasthenic Syndrome, Congenital, 14 is ALG2 (ALG2, Alpha-1,3/1,6-Mannosyltransferase), and among its related pathways/superpathways are Innate Immune System and Human cytomegalovirus infection. Affiliated tissues include eye and b cells, and related phenotypes are high palate and scoliosis

Disease Ontology : ¹² A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has material basis in homozygous mutation in the ALG2 gene on chromosome 9q22.

OMIM : ⁵⁷ Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616228)

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Related Diseases for Myasthenic Syndrome, Congenital, 14

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

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	spinal chordoma	9.9	CD274 PIK3CA
2	hemimegalencephaly	9.9	MYC PIK3CA
3	uterine corpus cancer	9.9	MYC PIK3CA
4	alk-negative anaplastic large cell lymphoma	9.8	CD274 MYC
5	mediastinal malignant lymphoma	9.8	CD274 JAK2 PDCD1LG2
6	respiratory system cancer	9.7	CD274 MYC PIK3CA
7	primary mediastinal large b-cell lymphoma	9.6	CD274 JAK2 MYC
8	lymphoma, non-hodgkin, familial	9.6	JAK2 MYC PIK3CA
9	epstein-barr virus-associated gastric carcinoma	9.6	CD274 JAK2 PDCD1LG2 PIK3CA
10	large intestine cancer	9.6	CD274 MYC PIK3CA
11	gastric adenocarcinoma	9.5	CD274 MYC PIK3CA

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 14:

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Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 14

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
waddling gait
delayed motor development (in some patients)
learning difficulties, mild (1 family)

Skeletal Spine:
scoliosis (in some patients)
lordosis (in some patients)

Head And Neck Mouth:
high-arched palate (in some patients)

Skeletal Feet:
pes planus (in some patients)

Muscle Soft Tissue:
limb-girdle muscle weakness
gower sign
muscle weakness, proximal greater than distal
muscle biopsy shows type 1 fiber predominance
hypotonia (in some patients)
more

Skeletal:
joint contractures (in some patients)
distal joint laxity (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging (in some patients)

Laboratory Abnormalities:
mildly increased serum creatine kinase (in some patients)
serum transferrin shows normal or mild hypo-glycosylation

Clinical features from OMIM:

616228

Human phenotypes related to Myasthenic Syndrome, Congenital, 14:

³² (show all 14)

#	Description	HPO Frequency	HPO Source Accession
1	high palate ³²	occasional (7.5%)	HP:0000218
2	scoliosis ³²	occasional (7.5%)	HP:0002650
3	hyperlordosis ³²	occasional (7.5%)	HP:0003307
4	pes planus ³²	occasional (7.5%)	HP:0001763
5	flexion contracture ³²	occasional (7.5%)	HP:0001371
6	waddling gait ³²		HP:0002515
7	scapular winging ³²	occasional (7.5%)	HP:0003691
8	ragged-red muscle fibers ³²	occasional (7.5%)	HP:0003200
9	motor delay ³²	occasional (7.5%)	HP:0001270
10	mildly elevated creatine phosphokinase ³²	occasional (7.5%)	HP:0008180
11	limb-girdle muscle weakness ³²		HP:0003325
12	generalized hypotonia ³²	occasional (7.5%)	HP:0001290
13	fatigable weakness ³²		HP:0003473
14	gowers sign ³²		HP:0003391

UMLS symptoms related to Myasthenic Syndrome, Congenital, 14:

waddling gait

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 14:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.8	ALG2 CD274 JAK2 MYC PDCD1LG2 PIK3CA
2	immune system	MP:0005387	9.63	CD274 JAK2 MYC PDCD1LG2 PIK3CA PPP3CA
3	mortality/aging	MP:0010768	9.5	ALG2 CD274 JAK2 MYC PDCD1LG2 PIK3CA
4	neoplasm	MP:0002006	8.92	JAK2 MYC PDCD1LG2 PIK3CA

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Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 14

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 14

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Genetic Tests for Myasthenic Syndrome, Congenital, 14

Genetic tests related to Myasthenic Syndrome, Congenital, 14:

#	Genetic test	Affiliating Genes
1	Myasthenic Syndrome, Congenital, 14 ²⁹	ALG2

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Anatomical Context for Myasthenic Syndrome, Congenital, 14

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 14:

⁴¹

Eye, B Cells

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Publications for Myasthenic Syndrome, Congenital, 14

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Genes for Myasthenic Syndrome, Congenital, 14

Genes related to Myasthenic Syndrome, Congenital, 14 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ALG2	ALG2, Alpha-1,3/1,6-Mannosyltransferase	Protein Coding	1328.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23404334 24461433 20301347
2	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	15.42	DISEASES inferred ¹⁵
3	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	14.24	DISEASES inferred ¹⁵
4	CD274	CD274 Molecule	Protein Coding	13.95	DISEASES inferred ¹⁵
5	JAK2	Janus Kinase 2	Protein Coding	13.94	DISEASES inferred ¹⁵
6	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	13.39	DISEASES inferred ¹⁵
7	SEC61B	Sec61 Translocon Beta Subunit	Protein Coding	8.92	GeneCards inferred via : Variants (show sections)
8	PDCD1LG2	Programmed Cell Death 1 Ligand 2	Protein Coding	5.25	DISEASES inferred ¹⁵

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Variations for Myasthenic Syndrome, Congenital, 14

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 14:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ALG2	p.Val68Gly	VAR_073332	rs730882051

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 14:

⁶ (show top 50) (show all 68)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ALG2	NM_033087.3(ALG2): c.760T> C (p.Leu254=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs62562374	GRCh37	Chromosome 9, 101980707: 101980707
2	ALG2	NM_033087.3(ALG2): c.760T> C (p.Leu254=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs62562374	GRCh38	Chromosome 9, 99218425: 99218425
3	ALG2	NM_033087.3(ALG2): c.17G> C (p.Gly6Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs180849348	GRCh37	Chromosome 9, 101984160: 101984160
4	ALG2	NM_033087.3(ALG2): c.17G> C (p.Gly6Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs180849348	GRCh38	Chromosome 9, 99221878: 99221878
5	ALG2	NM_033087.3(ALG2): c.214_224delGGGGACTGGCTinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)	indel	Pathogenic	rs730882123	GRCh37	Chromosome 9, 101983953: 101983963
6	ALG2	NM_033087.3(ALG2): c.214_224delGGGGACTGGCTinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)	indel	Pathogenic	rs730882123	GRCh38	Chromosome 9, 99221671: 99221681
7	ALG2	NM_033087.3(ALG2): c.203T> G (p.Val68Gly)	single nucleotide variant	Pathogenic	rs730882051	GRCh37	Chromosome 9, 101983974: 101983974
8	ALG2	NM_033087.3(ALG2): c.203T> G (p.Val68Gly)	single nucleotide variant	Pathogenic	rs730882051	GRCh38	Chromosome 9, 99221692: 99221692
9	ALG2	NM_033087.3(ALG2): c.84C> G (p.Gly28=)	single nucleotide variant	Benign/Likely benign	rs61744789	GRCh37	Chromosome 9, 101984093: 101984093
10	ALG2	NM_033087.3(ALG2): c.84C> G (p.Gly28=)	single nucleotide variant	Benign/Likely benign	rs61744789	GRCh38	Chromosome 9, 99221811: 99221811
11	ALG2	NM_033087.3(ALG2): c.30C> G (p.Asp10Glu)	single nucleotide variant	Benign/Likely benign	rs7023652	GRCh37	Chromosome 9, 101984147: 101984147
12	ALG2	NM_033087.3(ALG2): c.30C> G (p.Asp10Glu)	single nucleotide variant	Benign/Likely benign	rs7023652	GRCh38	Chromosome 9, 99221865: 99221865
13	ALG2	NM_033087.3(ALG2): c.129C> G (p.Arg43=)	single nucleotide variant	Benign/Likely benign	rs35055733	GRCh37	Chromosome 9, 101984048: 101984048
14	ALG2	NM_033087.3(ALG2): c.129C> G (p.Arg43=)	single nucleotide variant	Benign/Likely benign	rs35055733	GRCh38	Chromosome 9, 99221766: 99221766
15	ALG2	NM_033087.3(ALG2): c.1132C> T (p.Arg378Cys)	single nucleotide variant	Uncertain significance	rs56393253	GRCh37	Chromosome 9, 101980335: 101980335
16	ALG2	NM_033087.3(ALG2): c.1132C> T (p.Arg378Cys)	single nucleotide variant	Uncertain significance	rs56393253	GRCh38	Chromosome 9, 99218053: 99218053
17	ALG2	NM_033087.3(ALG2): c.1174G> A (p.Ala392Thr)	single nucleotide variant	Uncertain significance	rs138258236	GRCh37	Chromosome 9, 101980293: 101980293
18	ALG2	NM_033087.3(ALG2): c.1174G> A (p.Ala392Thr)	single nucleotide variant	Uncertain significance	rs138258236	GRCh38	Chromosome 9, 99218011: 99218011
19	ALG2	NM_033087.3(ALG2): c.159C> T (p.His53=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs527683080	GRCh37	Chromosome 9, 101984018: 101984018
20	ALG2	NM_033087.3(ALG2): c.159C> T (p.His53=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs527683080	GRCh38	Chromosome 9, 99221736: 99221736
21	ALG2	NM_033087.3(ALG2): c.1A> G (p.Met1Val)	single nucleotide variant	Uncertain significance	rs750172644	GRCh37	Chromosome 9, 101984176: 101984176
22	ALG2	NM_033087.3(ALG2): c.1A> G (p.Met1Val)	single nucleotide variant	Uncertain significance	rs750172644	GRCh38	Chromosome 9, 99221894: 99221894
23	ALG2	NM_033087.3(ALG2): c.304C> T (p.Leu102=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs749236548	GRCh37	Chromosome 9, 101983873: 101983873
24	ALG2	NM_033087.3(ALG2): c.304C> T (p.Leu102=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs749236548	GRCh38	Chromosome 9, 99221591: 99221591
25	ALG2	NM_033087.3(ALG2): c.288C> T (p.Phe96=)	single nucleotide variant	Benign/Likely benign	rs542863968	GRCh37	Chromosome 9, 101983889: 101983889
26	ALG2	NM_033087.3(ALG2): c.288C> T (p.Phe96=)	single nucleotide variant	Benign/Likely benign	rs542863968	GRCh38	Chromosome 9, 99221607: 99221607
27	ALG2	NM_033087.3(ALG2): c.167C> T (p.Pro56Leu)	single nucleotide variant	Benign	rs201959100	GRCh37	Chromosome 9, 101984010: 101984010
28	ALG2	NM_033087.3(ALG2): c.167C> T (p.Pro56Leu)	single nucleotide variant	Benign	rs201959100	GRCh38	Chromosome 9, 99221728: 99221728
29	ALG2	NM_033087.3(ALG2): c.216G> T (p.Gly72=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs531748488	GRCh37	Chromosome 9, 101983961: 101983961
30	ALG2	NM_033087.3(ALG2): c.216G> T (p.Gly72=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs531748488	GRCh38	Chromosome 9, 99221679: 99221679
31	ALG2	NM_033087.3(ALG2): c.1055_1056delCCinsTGA (p.Ser352Leufs)	indel	Uncertain significance		GRCh37	Chromosome 9, 101980411: 101980412
32	ALG2	NM_033087.3(ALG2): c.1055_1056delCCinsTGA (p.Ser352Leufs)	indel	Uncertain significance		GRCh38	Chromosome 9, 99218129: 99218130
33	ALG2	NM_033087.3(ALG2): c.443A> G (p.Asp148Gly)	single nucleotide variant	Uncertain significance	rs369670496	GRCh37	Chromosome 9, 101981024: 101981024
34	ALG2	NM_033087.3(ALG2): c.443A> G (p.Asp148Gly)	single nucleotide variant	Uncertain significance	rs369670496	GRCh38	Chromosome 9, 99218742: 99218742
35	ALG2	NM_033087.3(ALG2): c.729A> T (p.Ala243=)	single nucleotide variant	Likely benign	rs748947069	GRCh37	Chromosome 9, 101980738: 101980738
36	ALG2	NM_033087.3(ALG2): c.729A> T (p.Ala243=)	single nucleotide variant	Likely benign	rs748947069	GRCh38	Chromosome 9, 99218456: 99218456
37	ALG2	NM_033087.3(ALG2): c.348+6G> A	single nucleotide variant	Uncertain significance	rs368075764	GRCh37	Chromosome 9, 101983823: 101983823
38	ALG2	NM_033087.3(ALG2): c.348+6G> A	single nucleotide variant	Uncertain significance	rs368075764	GRCh38	Chromosome 9, 99221541: 99221541
39	ALG2	NM_033087.3(ALG2): c.44C> A (p.Pro15Gln)	single nucleotide variant	Uncertain significance	rs757920586	GRCh38	Chromosome 9, 99221851: 99221851
40	ALG2	NM_033087.3(ALG2): c.44C> A (p.Pro15Gln)	single nucleotide variant	Uncertain significance	rs757920586	GRCh37	Chromosome 9, 101984133: 101984133
41	ALG2	NM_033087.3(ALG2): c.219C> G (p.Asp73Glu)	single nucleotide variant	Uncertain significance	rs755705607	GRCh38	Chromosome 9, 99221676: 99221676
42	ALG2	NM_033087.3(ALG2): c.219C> G (p.Asp73Glu)	single nucleotide variant	Uncertain significance	rs755705607	GRCh37	Chromosome 9, 101983958: 101983958
43	ALG2	NM_033087.3(ALG2): c.10G> A (p.Glu4Lys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 9, 101984167: 101984167
44	ALG2	NM_033087.3(ALG2): c.10G> A (p.Glu4Lys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 9, 99221885: 99221885
45	ALG2	NM_033087.3(ALG2): c.399C> G (p.Ile133Met)	single nucleotide variant	Uncertain significance	rs371772900	GRCh38	Chromosome 9, 99218786: 99218786
46	ALG2	NM_033087.3(ALG2): c.399C> G (p.Ile133Met)	single nucleotide variant	Uncertain significance	rs371772900	GRCh37	Chromosome 9, 101981068: 101981068
47	ALG2	NM_033087.3(ALG2): c.339G> A (p.Val113=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 9, 99221556: 99221556
48	ALG2	NM_033087.3(ALG2): c.339G> A (p.Val113=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 9, 101983838: 101983838
49	ALG2	NM_033087.3(ALG2): c.1200T> C (p.Pro400=)	single nucleotide variant	Likely benign	rs764916897	GRCh37	Chromosome 9, 101980267: 101980267
50	ALG2	NM_033087.3(ALG2): c.1200T> C (p.Pro400=)	single nucleotide variant	Likely benign	rs764916897	GRCh38	Chromosome 9, 99217985: 99217985

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Expression for Myasthenic Syndrome, Congenital, 14

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 14.

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Pathways for Myasthenic Syndrome, Congenital, 14

Pathways related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

(show all 34)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.62	CD274 JAK2 MYC PDCD1LG2 PIK3CA PPP3CA
2	Human cytomegalovirus infection ³⁷ Show member pathways Hepatitis B ³⁷ Human immunodeficiency virus 1 infection ³⁷ Kaposi sarcoma-associated herpesvirus infection ³⁷	12.74	JAK2 MYC PIK3CA PPP3CA
3	Th17 cell differentiation ³⁷ Show member pathways IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²² Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	12.35	JAK2 MYC PPP3CA
4	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶⁴ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²² Rac1/Pak1/p38/MMP-2 pathway ¹	12.34	JAK2 MYC PIK3CA
5	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Apoptosis and survival BAD phosphorylation ²² BAD Phosphorylation ⁶⁴ Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²²	12.31	JAK2 PIK3CA PPP3CA
6	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.27	JAK2 MYC PIK3CA
7	Prolactin Signaling Pathway ¹ ³⁷ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	12.21	JAK2 MYC PIK3CA
8	Human T-cell leukemia virus 1 infection ³⁷	12.15	MYC PIK3CA PPP3CA
9	JAK-STAT signaling pathway (KEGG) ³⁷ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵	12.13	JAK2 MYC PIK3CA
10	Development VEGF signaling via VEGFR2 - generic cascades ²² Show member pathways Development VEGF signaling and activation ²² VEGF - VEGF R2 Signaling Pathways ⁶⁵	12.11	JAK2 PIK3CA PPP3CA
11	Development IGF-1 receptor signaling ²² Show member pathways IL-4 Signaling Pathway ¹ Immune response IL-4 signaling pathway ²² Signal transduction AKT signaling ²²	12.1	JAK2 MYC PIK3CA
12	B cell receptor signaling pathway (KEGG) ³⁷ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.07	MYC PIK3CA PPP3CA
13	NF-kappaB Signaling ⁴	12.07	CD274 JAK2 PDCD1LG2 PPP3CA
14	CD28 co-stimulation ⁶⁶ Show member pathways Activation of AKT2 ⁶⁶ CD28 dependent PI3K/Akt signaling ⁶⁶ CD28 dependent Vav1 pathway ⁶⁶ Costimulation by the CD28 family ⁶⁶ VEGFR2 mediated vascular permeability ⁶⁶	11.92	CD274 PDCD1LG2 PIK3CA
15	Cellular senescence (KEGG) ³⁷	11.87	MYC PIK3CA PPP3CA
16	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.84	JAK2 MYC PIK3CA
17	Signaling pathways regulating pluripotency of stem cells ³⁷	11.78	JAK2 MYC PIK3CA
18	IL-2 Signaling Pathway ¹ Show member pathways IL2-mediated signaling events ¹ IL-5 Signaling Pathway ¹	11.74	JAK2 MYC PIK3CA
19	IL2 signaling events mediated by PI3K ¹ Show member pathways IL2 signaling events mediated by STAT5 ¹	11.49	MYC PIK3CA
20	Pathways Affected in Adenoid Cystic Carcinoma ¹	11.48	MYC PIK3CA
21	IL6-mediated signaling events ¹ Show member pathways IL-6 signaling pathway ¹	11.48	JAK2 MYC PIK3CA
22	Central carbon metabolism in cancer ³⁷	11.47	MYC PIK3CA
23	IL4-mediated signaling events ¹	11.45	JAK2 PIK3CA
24	T Cell Co-Signaling Pathway: Ligand-Receptor Interactions ⁶⁵	11.41	CD274 PDCD1LG2
25	PDGFR-beta signaling pathway ¹	11.36	MYC PIK3CA
26	Development_Leptin signaling via PI3K-dependent pathway ²²	11.34	JAK2 PIK3CA
27	Signaling events mediated by PTP1B ¹	11.3	JAK2 PIK3CA
28	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	11.27	JAK2 MYC PIK3CA
29	Paxillin-dependent events mediated by a4b1 ¹ Show member pathways a4b1 and a4b7 Integrin signaling ¹ Paxillin-independent events mediated by a4b1 and a4b7 ¹	11.24	JAK2 PIK3CA
30	Human Thyroid Stimulating Hormone (TSH) signaling pathway ¹	11.16	JAK2 MYC PIK3CA
31	G-protein signaling_Cross-talk between Ras-family GTPases ²²	11.13	JAK2 PIK3CA PPP3CA
32	Immune response IL-2 activation and signaling pathway ²² Show member pathways Immune response IL-3 activation and signaling pathway ²²	10.95	JAK2 MYC PIK3CA PPP3CA
33	Telomere Extension by Telomerase ⁶⁴ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁶	10.82	MYC PIK3CA PPP3CA
34	Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway ¹	10.8	JAK2 MYC PIK3CA

Sources

GO Terms for Myasthenic Syndrome, Congenital, 14

Cellular components related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	9.56	ALG2 CD274 JAK2 MYC PDCD1LG2 PIK3CA
2	endomembrane system	GO:0012505	8.8	CD274 JAK2 PDCD1LG2

Biological processes related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytokine-mediated signaling pathway	GO:0019221	9.61	JAK2 MYC PIK3CA
2	cellular response to drug	GO:0035690	9.54	MYC PPP3CA
3	positive regulation of cell migration	GO:0030335	9.54	CD274 JAK2 PPP3CA
4	modulation of chemical synaptic transmission	GO:0050804	9.52	JAK2 PPP3CA
5	response to calcium ion	GO:0051592	9.51	ALG2 PPP3CA
6	cellular response to glucose stimulus	GO:0071333	9.49	PIK3CA PPP3CA
7	glucose metabolic process	GO:0006006	9.48	MYC PIK3CA
8	positive regulation of T cell proliferation	GO:0042102	9.46	CD274 PDCD1LG2
9	negative regulation of T cell proliferation	GO:0042130	9.4	CD274 PDCD1LG2
10	positive regulation of DNA binding	GO:0043388	9.32	JAK2 MYC
11	negative regulation of interferon-gamma production	GO:0032689	9.26	CD274 PDCD1LG2
12	negative regulation of interleukin-10 production	GO:0032693	9.16	CD274 PDCD1LG2
13	negative regulation of activated T cell proliferation	GO:0046007	8.96	CD274 PDCD1LG2
14	T cell costimulation	GO:0031295	8.8	CD274 PDCD1LG2 PIK3CA

Molecular functions related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	insulin receptor substrate binding	GO:0043560	8.62	JAK2 PIK3CA

Sources

Sources for Myasthenic Syndrome, Congenital, 14

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Myasthenic Syndrome, Congenital, 14 (CMS14)

Aliases & Classifications for Myasthenic Syndrome, Congenital, 14

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 14:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Myasthenic Syndrome, Congenital, 14

Related Diseases for Myasthenic Syndrome, Congenital, 14

Diseases in the Congenital Myasthenic Syndrome family:

Diseases related to Myasthenic Syndrome, Congenital, 14 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 14:

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 14

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Myasthenic Syndrome, Congenital, 14:

UMLS symptoms related to Myasthenic Syndrome, Congenital, 14:

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 14:

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 14

Genetic Tests for Myasthenic Syndrome, Congenital, 14

Genetic tests related to Myasthenic Syndrome, Congenital, 14:

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Genes for Myasthenic Syndrome, Congenital, 14

Genes related to Myasthenic Syndrome, Congenital, 14 (1 elite genes):

Variations for Myasthenic Syndrome, Congenital, 14

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 14:

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 14:

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Pathways for Myasthenic Syndrome, Congenital, 14

Pathways related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

GO Terms for Myasthenic Syndrome, Congenital, 14

Cellular components related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

Biological processes related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

Molecular functions related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

Sources for Myasthenic Syndrome, Congenital, 14