Myasthenic Syndrome, Congenital, 23, Presynaptic disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Myasthenic Syndrome, Congenital, 23, Presynaptic

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 23, Presynaptic:

Name: Myasthenic Syndrome, Congenital, 23, Presynaptic ⁵⁷ ⁷⁴ ²⁹ ⁶

Cms23 ⁵⁷ ⁷⁴

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
nonprogressive disease course
favorable response to treatment with 3,4-dap or pyridostigmine
two sibs born of consanguineous parents have been reported (last curated november 2018)

HPO:

³²

myasthenic syndrome, congenital, 23, presynaptic:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 618197 PS601462

MeSH ⁴⁴ D020294

MedGen ⁴² C4748678

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Summaries for Myasthenic Syndrome, Congenital, 23, Presynaptic

UniProtKB/Swiss-Prot : ⁷⁴ Myasthenic syndrome, congenital, 23, presynaptic: 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 include easy fatigability and muscle weakness. CMS23 inheritance is autosomal recessive.

MalaCards based summary : Myasthenic Syndrome, Congenital, 23, Presynaptic, is also known as cms23. An important gene associated with Myasthenic Syndrome, Congenital, 23, Presynaptic is SLC25A1 (Solute Carrier Family 25 Member 1). Related phenotypes are ptosis and abnormality of the foot

More information from OMIM: 618197 PS601462

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Related Diseases for Myasthenic Syndrome, Congenital, 23, Presynaptic

Diseases in the Presynaptic Congenital Myasthenic Syndromes family:

Myasthenic Syndrome, Congenital, 6, Presynaptic	Myasthenic Syndrome, Congenital, 7, Presynaptic
Myasthenic Syndrome, Congenital, 20, Presynaptic	Myasthenic Syndrome, Congenital, 21, Presynaptic
Myasthenic Syndrome, Congenital, 23, Presynaptic	Myasthenic Syndrome, Congenital, 24, Presynaptic
Myasthenic Syndrome, Congenital, 25, Presynaptic

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Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 23, Presynaptic

Human phenotypes related to Myasthenic Syndrome, Congenital, 23, Presynaptic:

³² (show all 8)

#	Description	HPO Source Accession
1	ptosis ³²	HP:0000508
2	abnormality of the foot ³²	HP:0001760
3	easy fatigability ³²	HP:0003388
4	hyporeflexia ³²	HP:0001265
5	neck muscle weakness ³²	HP:0000467
6	frequent falls ³²	HP:0002359
7	calf muscle hypertrophy ³²	HP:0008981
8	delayed ability to walk ³²	HP:0031936

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
ptosis

Neurologic Peripheral Nervous System:
hyporeflexia

Neurologic Central Nervous System:
frequent falls
delayed motor development
learning disabilities
delayed walking
impaired intellectual development, mild

Muscle Soft Tissue:
muscle weakness
easy fatigability
calf hypertrophy
abnormal jitter seen on emg
myasthenic syndrome
more

Head And Neck Neck:
neck muscle weakness

Skeletal Feet:
foot deformities

Clinical features from OMIM:

618197

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Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 23, Presynaptic

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 23, Presynaptic

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Genetic Tests for Myasthenic Syndrome, Congenital, 23, Presynaptic

Genetic tests related to Myasthenic Syndrome, Congenital, 23, Presynaptic:

#	Genetic test	Affiliating Genes
1	Myasthenic Syndrome, Congenital, 23, Presynaptic ²⁹	SLC25A1

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Anatomical Context for Myasthenic Syndrome, Congenital, 23, Presynaptic

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Publications for Myasthenic Syndrome, Congenital, 23, Presynaptic

Articles related to Myasthenic Syndrome, Congenital, 23, Presynaptic:

#	Title	Authors	PMID	Year
1	Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. ⁸ ⁷¹	Chaouch A...Lochmuller H	26870663	2014
2	Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. ⁸	Edvardson S...Elpeleg O	23393310	2013
3	Congenital Myasthenic Syndromes ⁷¹	Abicht A...Lochmuller H	20301347	2003

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Genes for Myasthenic Syndrome, Congenital, 23, Presynaptic

Genes related to Myasthenic Syndrome, Congenital, 23, Presynaptic (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC25A1	Solute Carrier Family 25 Member 1	Protein Coding	1378.16	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	26870663

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Variations for Myasthenic Syndrome, Congenital, 23, Presynaptic

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 23, Presynaptic:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	SLC25A1	NM_005984.5(SLC25A1): c.740G> A (p.Arg247Gln)	single nucleotide variant	Pathogenic		22:19164098-19164098	22:19176585-19176585

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 23, Presynaptic:

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	SLC25A1	p.Arg247Gln	VAR_081667	rs781908532

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Expression for Myasthenic Syndrome, Congenital, 23, Presynaptic

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 23, Presynaptic.

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Pathways for Myasthenic Syndrome, Congenital, 23, Presynaptic

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GO Terms for Myasthenic Syndrome, Congenital, 23, Presynaptic

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Myasthenic Syndrome, Congenital, 23, Presynaptic (CMS23)

Aliases & Classifications for Myasthenic Syndrome, Congenital, 23, Presynaptic

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 23, Presynaptic:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Myasthenic Syndrome, Congenital, 23, Presynaptic

Related Diseases for Myasthenic Syndrome, Congenital, 23, Presynaptic

Diseases in the Presynaptic Congenital Myasthenic Syndromes family:

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 23, Presynaptic

Human phenotypes related to Myasthenic Syndrome, Congenital, 23, Presynaptic:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 23, Presynaptic

Genetic Tests for Myasthenic Syndrome, Congenital, 23, Presynaptic

Genetic tests related to Myasthenic Syndrome, Congenital, 23, Presynaptic:

Anatomical Context for Myasthenic Syndrome, Congenital, 23, Presynaptic

Publications for Myasthenic Syndrome, Congenital, 23, Presynaptic

Articles related to Myasthenic Syndrome, Congenital, 23, Presynaptic:

Genes for Myasthenic Syndrome, Congenital, 23, Presynaptic

Genes related to Myasthenic Syndrome, Congenital, 23, Presynaptic (1 elite genes):

Variations for Myasthenic Syndrome, Congenital, 23, Presynaptic

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 23, Presynaptic:

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 23, Presynaptic:

Expression for Myasthenic Syndrome, Congenital, 23, Presynaptic

Pathways for Myasthenic Syndrome, Congenital, 23, Presynaptic

GO Terms for Myasthenic Syndrome, Congenital, 23, Presynaptic

Sources for Myasthenic Syndrome, Congenital, 23, Presynaptic