Myasthenic Syndrome, Congenital, 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMS16 MCID: MYS064 MIFTS: 23	Myasthenic Syndrome, Congenital, 16 (CMS16) Categories: Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Myasthenic Syndrome, Congenital, 16

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 16:

Name: Myasthenic Syndrome, Congenital, 16 ⁵⁷ ⁷⁵

Cms16 ⁵⁷ ¹² ⁷⁵

Myasthenic Syndrome, Congenital, Acetazolamide-Responsive ⁵⁷ ⁷⁵

Congenital Myasthenic Syndrome, Acetazolamide-Responsive ²⁹ ⁶

Congenital Myasthenic Syndrome Acetazolamide-Responsive ¹²

Congenital Myasthenic Syndrome Due to Mutation in Scn4a ⁷⁵

Congenital Myasthenic Syndrome Scn4a-Related ⁷⁵

Congenital Myasthenic Syndrome 16 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
two unrelated patients have been reported (last curated october 2015)

HPO:

³²

myasthenic syndrome, congenital, 16:
Onset and clinical course variable expressivity infantile onset
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 614198

Disease Ontology ¹² DOID:0110682

MedGen ⁴² C3280112

MeSH ⁴⁴ D020294

SNOMED-CT via HPO ⁶⁹ 258211005 27272007 11934000 more

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Summaries for Myasthenic Syndrome, Congenital, 16

UniProtKB/Swiss-Prot : ⁷⁵ Myasthenic syndrome, congenital, 16: 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. CMS16 is characterized by fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation.

MalaCards based summary : Myasthenic Syndrome, Congenital, 16, also known as cms16, is related to congenital myasthenic syndrome. An important gene associated with Myasthenic Syndrome, Congenital, 16 is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4). Affiliated tissues include eye, and related phenotypes are high palate and ptosis

Disease Ontology : ¹² A congenital myasthenic syndrome that has material basis in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.

OMIM : ⁵⁷ Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (614198)

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Related Diseases for Myasthenic Syndrome, Congenital, 16

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

#	Related Disease	Score	Top Affiliating Genes
1	congenital myasthenic syndrome	9.7	SCN4A TACO1

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Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 16

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
ptosis
external ophthalmoplegia

Neurologic Central Nervous System:
delayed motor development

Respiratory:
apneic episodes (1 patient)

Laboratory Abnormalities:
normal potassium levels

Muscle Soft Tissue:
easy fatigability
impaired gait
muscle weakness, episodic
weakness worsened by activity
decremental compound muscle action potential on repetitive stimulation

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

Skeletal Spine:
lordosis (1 patient)

Clinical features from OMIM:

614198

Human phenotypes related to Myasthenic Syndrome, Congenital, 16:

³² (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	high palate ³²	occasional (7.5%)	HP:0000218
2	ptosis ³²		HP:0000508
3	gait disturbance ³²		HP:0001288
4	hyperlordosis ³²	occasional (7.5%)	HP:0003307
5	apnea ³²	occasional (7.5%)	HP:0002104
6	motor delay ³²		HP:0001270
7	easy fatigability ³²		HP:0003388
8	fatigable weakness ³²		HP:0003473
9	external ophthalmoplegia ³²		HP:0000544

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Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 16

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 16

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Genetic Tests for Myasthenic Syndrome, Congenital, 16

Genetic tests related to Myasthenic Syndrome, Congenital, 16:

#	Genetic test	Affiliating Genes
1	Congenital Myasthenic Syndrome, Acetazolamide-Responsive ²⁹	SCN4A

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Anatomical Context for Myasthenic Syndrome, Congenital, 16

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 16:

⁴¹

Eye

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Publications for Myasthenic Syndrome, Congenital, 16

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Genes for Myasthenic Syndrome, Congenital, 16

Genes related to Myasthenic Syndrome, Congenital, 16 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SCN4A	Sodium Voltage-Gated Channel Alpha Subunit 4	Protein Coding	1327.66	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	12766226 20301347
2	TACO1	Translational Activator Of Cytochrome C Oxidase I	Protein Coding	400	Pathogenic ⁶	19503089 20727754 20301347

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Variations for Myasthenic Syndrome, Congenital, 16

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 16:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	SCN4A	p.Val1442Glu	VAR_017795	rs121908553
2	SCN4A	p.Arg1454Trp	VAR_075436	rs879253789
3	SCN4A	p.Arg1457His	VAR_075437	rs863225046

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 16:

⁶ (show all 44)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TACO1	NM_016360.3(TACO1): c.472_473insC (p.His158Profs)	insertion	Pathogenic	rs587776513	GRCh37	Chromosome 17, 61683757: 61683757
2	TACO1	NM_016360.3(TACO1): c.472_473insC (p.His158Profs)	insertion	Pathogenic	rs587776513	GRCh38	Chromosome 17, 63606397: 63606397
3	SCN4A	NM_000334.4(SCN4A): c.4325T> A (p.Val1442Glu)	single nucleotide variant	Pathogenic	rs121908553	GRCh37	Chromosome 17, 62019317: 62019317
4	SCN4A	NM_000334.4(SCN4A): c.4325T> A (p.Val1442Glu)	single nucleotide variant	Pathogenic	rs121908553	GRCh38	Chromosome 17, 63941957: 63941957
5	SCN4A	NM_000334.4(SCN4A): c.737C> T (p.Ser246Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs80338951	GRCh37	Chromosome 17, 62045682: 62045682
6	SCN4A	NM_000334.4(SCN4A): c.737C> T (p.Ser246Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs80338951	GRCh38	Chromosome 17, 63968322: 63968322
7	SCN4A	NM_000334.4(SCN4A): c.2631T> C (p.Asp877=)	single nucleotide variant	Benign	rs79893125	GRCh37	Chromosome 17, 62029006: 62029006
8	SCN4A	NM_000334.4(SCN4A): c.2631T> C (p.Asp877=)	single nucleotide variant	Benign	rs79893125	GRCh38	Chromosome 17, 63951646: 63951646
9	SCN4A	NM_000334.4(SCN4A): c.4539C> A (p.Ile1513=)	single nucleotide variant	Benign	rs56342400	GRCh37	Chromosome 17, 62019103: 62019103
10	SCN4A	NM_000334.4(SCN4A): c.4539C> A (p.Ile1513=)	single nucleotide variant	Benign	rs56342400	GRCh38	Chromosome 17, 63941743: 63941743
11	SCN4A	NM_000334.4(SCN4A): c.4869A> G (p.Thr1623=)	single nucleotide variant	Benign	rs2070720	GRCh37	Chromosome 17, 62018773: 62018773
12	SCN4A	NM_000334.4(SCN4A): c.4869A> G (p.Thr1623=)	single nucleotide variant	Benign	rs2070720	GRCh38	Chromosome 17, 63941413: 63941413
13	SCN4A	NM_000334.4(SCN4A): c.1167T> C (p.Tyr389=)	single nucleotide variant	Benign	rs16947296	GRCh37	Chromosome 17, 62043537: 62043537
14	SCN4A	NM_000334.4(SCN4A): c.1167T> C (p.Tyr389=)	single nucleotide variant	Benign	rs16947296	GRCh38	Chromosome 17, 63966177: 63966177
15	SCN4A	NM_000334.4(SCN4A): c.1570A> G (p.Ser524Gly)	single nucleotide variant	Benign	rs6504191	GRCh37	Chromosome 17, 62041068: 62041068
16	SCN4A	NM_000334.4(SCN4A): c.1570A> G (p.Ser524Gly)	single nucleotide variant	Benign	rs6504191	GRCh38	Chromosome 17, 63963708: 63963708
17	SCN4A	NM_000334.4(SCN4A): c.2289C> T (p.Ile763=)	single nucleotide variant	Benign/Likely benign	rs76894284	GRCh37	Chromosome 17, 62034609: 62034609
18	SCN4A	NM_000334.4(SCN4A): c.2289C> T (p.Ile763=)	single nucleotide variant	Benign/Likely benign	rs76894284	GRCh38	Chromosome 17, 63957249: 63957249
19	SCN4A	NM_000334.4(SCN4A): c.2989+5G> A	single nucleotide variant	Benign	rs115695396	GRCh37	Chromosome 17, 62026748: 62026748
20	SCN4A	NM_000334.4(SCN4A): c.2989+5G> A	single nucleotide variant	Benign	rs115695396	GRCh38	Chromosome 17, 63949388: 63949388
21	SCN4A	NM_000334.4(SCN4A): c.366C> T (p.Arg122=)	single nucleotide variant	Benign/Likely benign	rs41280108	GRCh37	Chromosome 17, 62049738: 62049738
22	SCN4A	NM_000334.4(SCN4A): c.366C> T (p.Arg122=)	single nucleotide variant	Benign/Likely benign	rs41280108	GRCh38	Chromosome 17, 63972378: 63972378
23	SCN4A	NM_000334.4(SCN4A): c.4126A> G (p.Asn1376Asp)	single nucleotide variant	Benign	rs2058194	GRCh37	Chromosome 17, 62020348: 62020348
24	SCN4A	NM_000334.4(SCN4A): c.4126A> G (p.Asn1376Asp)	single nucleotide variant	Benign	rs2058194	GRCh38	Chromosome 17, 63942988: 63942988
25	SCN4A	NM_000334.4(SCN4A): c.5403C> T (p.Ala1801=)	single nucleotide variant	Benign	rs2227907	GRCh37	Chromosome 17, 62018239: 62018239
26	SCN4A	NM_000334.4(SCN4A): c.5403C> T (p.Ala1801=)	single nucleotide variant	Benign	rs2227907	GRCh38	Chromosome 17, 63940879: 63940879
27	SCN4A	NM_000334.4(SCN4A): c.5478T> G (p.Thr1826=)	single nucleotide variant	Benign	rs2227906	GRCh37	Chromosome 17, 62018164: 62018164
28	SCN4A	NM_000334.4(SCN4A): c.5478T> G (p.Thr1826=)	single nucleotide variant	Benign	rs2227906	GRCh38	Chromosome 17, 63940804: 63940804
29	SCN4A	NM_000334.4(SCN4A): c.864C> T (p.Asn288=)	single nucleotide variant	Benign	rs7218917	GRCh37	Chromosome 17, 62045555: 62045555
30	SCN4A	NM_000334.4(SCN4A): c.864C> T (p.Asn288=)	single nucleotide variant	Benign	rs7218917	GRCh38	Chromosome 17, 63968195: 63968195
31	SCN4A	NM_000334.4(SCN4A): c.4370G> A (p.Arg1457His)	single nucleotide variant	Pathogenic	rs863225046	GRCh38	Chromosome 17, 63941912: 63941912
32	SCN4A	NM_000334.4(SCN4A): c.4370G> A (p.Arg1457His)	single nucleotide variant	Pathogenic	rs863225046	GRCh37	Chromosome 17, 62019272: 62019272
33	SCN4A	NM_000334.4(SCN4A): c.1100+7G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200770684	GRCh38	Chromosome 17, 63966474: 63966474
34	SCN4A	NM_000334.4(SCN4A): c.1100+7G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200770684	GRCh37	Chromosome 17, 62043834: 62043834
35	SCN4A	NM_000334.4(SCN4A): c.2623C> T (p.Pro875Ser)	single nucleotide variant	Benign/Likely benign	rs201148948	GRCh38	Chromosome 17, 63951654: 63951654
36	SCN4A	NM_000334.4(SCN4A): c.2623C> T (p.Pro875Ser)	single nucleotide variant	Benign/Likely benign	rs201148948	GRCh37	Chromosome 17, 62029014: 62029014
37	SCN4A	NM_000334.4(SCN4A): c.355G> A (p.Val119Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41280110	GRCh38	Chromosome 17, 63972389: 63972389
38	SCN4A	NM_000334.4(SCN4A): c.355G> A (p.Val119Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41280110	GRCh37	Chromosome 17, 62049749: 62049749
39	SCN4A	NM_000334.4(SCN4A): c.1796A> G (p.His599Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs187401185	GRCh38	Chromosome 17, 63961242: 63961242
40	SCN4A	NM_000334.4(SCN4A): c.1796A> G (p.His599Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs187401185	GRCh37	Chromosome 17, 62038602: 62038602
41	SCN4A	NM_000334.4(SCN4A): c.154C> T (p.Arg52Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201379704	GRCh37	Chromosome 17, 62050048: 62050048
42	SCN4A	NM_000334.4(SCN4A): c.154C> T (p.Arg52Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201379704	GRCh38	Chromosome 17, 63972688: 63972688
43	SCN4A	NM_000334.4(SCN4A): c.8G> C (p.Arg3Thr)	single nucleotide variant	Uncertain significance	rs764134362	GRCh37	Chromosome 17, 62050194: 62050194
44	SCN4A	NM_000334.4(SCN4A): c.8G> C (p.Arg3Thr)	single nucleotide variant	Uncertain significance	rs764134362	GRCh38	Chromosome 17, 63972834: 63972834

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Expression for Myasthenic Syndrome, Congenital, 16

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 16.

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Pathways for Myasthenic Syndrome, Congenital, 16

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GO Terms for Myasthenic Syndrome, Congenital, 16

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Sources for Myasthenic Syndrome, Congenital, 16

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⁷⁶ Wikipedia

Myasthenic Syndrome, Congenital, 16 (CMS16)

Aliases & Classifications for Myasthenic Syndrome, Congenital, 16

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 16:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Myasthenic Syndrome, Congenital, 16

Related Diseases for Myasthenic Syndrome, Congenital, 16

Diseases in the Congenital Myasthenic Syndrome family:

Diseases related to Myasthenic Syndrome, Congenital, 16 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 16

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Myasthenic Syndrome, Congenital, 16:

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 16

Genetic Tests for Myasthenic Syndrome, Congenital, 16

Genetic tests related to Myasthenic Syndrome, Congenital, 16:

Anatomical Context for Myasthenic Syndrome, Congenital, 16

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 16:

Publications for Myasthenic Syndrome, Congenital, 16

Genes for Myasthenic Syndrome, Congenital, 16

Genes related to Myasthenic Syndrome, Congenital, 16 (2 elite genes):

Variations for Myasthenic Syndrome, Congenital, 16

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 16:

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 16:

Expression for Myasthenic Syndrome, Congenital, 16

Pathways for Myasthenic Syndrome, Congenital, 16

GO Terms for Myasthenic Syndrome, Congenital, 16

Sources for Myasthenic Syndrome, Congenital, 16