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

Sources

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

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

Name: Myasthenic Syndrome, Congenital, 23, Presynaptic ⁵⁶ ⁷³ ²⁹ ⁶

Cms23 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

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:

³¹

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 ⁵⁶ 618197

OMIM Phenotypic Series ⁵⁶ PS601462

MeSH ⁴³ D020294

MedGen ⁴¹ C4748678

SNOMED-CT via HPO ⁶⁸ 11934000 229844004 248268002 more

Sources

Summaries for Myasthenic Syndrome, Congenital, 23, Presynaptic

UniProtKB/Swiss-Prot : ⁷³ 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

Sources

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

Sources

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

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

³¹ (show all 8)

#	Description	HPO Source Accession
1	ptosis ³¹	HP:0000508
2	abnormality of the foot ³¹	HP:0001760
3	easy fatigability ³¹	HP:0003388
4	hyporeflexia ³¹	HP:0001265
5	neck muscle weakness ³¹	HP:0000467
6	frequent falls ³¹	HP:0002359
7	calf muscle hypertrophy ³¹	HP:0008981
8	delayed ability to walk ³¹	HP:0031936

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Sources

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

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

Sources

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

Sources

Anatomical Context for Myasthenic Syndrome, Congenital, 23, Presynaptic

Sources

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. ⁶ ⁵⁶	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. ⁵⁶	Edvardson S...Elpeleg O	23393310	2013
3	Congenital Myasthenic Syndromes ⁶	Abicht A...Lochmuller H	20301347	2003

Sources

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	1368.07	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	26870663

Sources

Variations for Myasthenic Syndrome, Congenital, 23, Presynaptic

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

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SLC25A1	NM_005984.5(SLC25A1):c.740G>A (p.Arg247Gln)	SNV	Pathogenic	590940		22:19164098-19164098	22:19176585-19176585

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

⁷³

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

Sources

Expression for Myasthenic Syndrome, Congenital, 23, Presynaptic

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

Sources

Pathways for Myasthenic Syndrome, Congenital, 23, Presynaptic

Sources

GO Terms for Myasthenic Syndrome, Congenital, 23, Presynaptic

Sources

Sources for Myasthenic Syndrome, Congenital, 23, Presynaptic

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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