FIM
MCID: CNG114
MIFTS: 24

Congenital Myasthenic Syndrome with Episodic Apnea (FIM)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Myasthenic Syndrome with Episodic Apnea

MalaCards integrated aliases for Congenital Myasthenic Syndrome with Episodic Apnea:

Name: Congenital Myasthenic Syndrome with Episodic Apnea 54
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 54
Myasthenic Syndrome Congenital Associated with Episodic Apnea 54
Congenital Myasthenic Syndrome Type 1a 54
Familial Infantile Myasthenia 74
Myasthenia Familial Infantile 54
Cms W/episodic Apnea 54
Cms-Ea 54
Cms1a 54
Fim 54

Classifications:



External Ids:

UMLS 74 C0393929

Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

MalaCards based summary : Congenital Myasthenic Syndrome with Episodic Apnea, also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, is related to congenital myasthenic syndrome and myasthenic syndrome, congenital, 6, presynaptic, and has symptoms including respiratory distress, ophthalmoparesis and apnea. An important gene associated with Congenital Myasthenic Syndrome with Episodic Apnea is CHAT (Choline O-Acetyltransferase), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses.

Related Diseases for Congenital Myasthenic Syndrome with Episodic Apnea

Diseases related to Congenital Myasthenic Syndrome with Episodic Apnea via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 congenital myasthenic syndrome 30.1 CHAT SLC5A7
2 myasthenic syndrome, congenital, 6, presynaptic 11.8
3 myasthenic syndrome, congenital, 1a, slow-channel 11.8
4 myasthenic syndrome, congenital, 10 10.9
5 myasthenic syndrome, congenital, 5 10.9
6 myasthenic syndrome, congenital, 4a, slow-channel 10.9
7 myasthenic syndrome, congenital, 1b, fast-channel 10.9
8 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.9
9 myasthenic syndrome, congenital, 12 10.9
10 myasthenic syndrome, congenital, 16 10.9
11 myasthenic syndrome, congenital, 13 10.9
12 myasthenic syndrome, congenital, 8 10.9
13 muscular dystrophy-dystroglycanopathy , type c, 14 10.9
14 myasthenic syndrome, congenital, 7, presynaptic 10.9
15 myasthenic syndrome, congenital, 15 10.9
16 myasthenic syndrome, congenital, 14 10.9
17 myasthenic syndrome, congenital, 2a, slow-channel 10.9
18 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.9
19 myasthenic syndrome, congenital, 3a, slow-channel 10.9
20 myasthenic syndrome, congenital, 3b, fast-channel 10.9
21 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 10.9
22 myasthenic syndrome, congenital, 4b, fast-channel 10.9
23 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 10.9
24 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 10.9
25 myasthenic syndrome, congenital, 18 10.9
26 myasthenic syndrome, congenital, 19 10.9
27 myasthenic syndrome, congenital, 20, presynaptic 10.9
28 myasthenic syndrome, congenital, 25, presynaptic 10.9
29 myelofibrosis 10.1
30 hemiplegia 10.0
31 pyelonephritis 10.0
32 atherosclerosis susceptibility 9.9
33 multiple sclerosis 9.9
34 myelopathy, htlv-1-associated 9.9
35 ovarian cancer 9.9
36 osteoarthritis 9.9
37 pemphigus foliaceus 9.9
38 pertussis 9.9
39 quadriplegia 9.9
40 guillain-barre syndrome 9.9
41 acute cystitis 9.9
42 beriberi 9.9
43 myeloproliferative neoplasm 9.9
44 relapsing-remitting multiple sclerosis 9.9
45 tropical spastic paraparesis 9.9
46 neuromuscular disease 9.9
47 movement disease 9.9
48 bone marrow cancer 9.9
49 paraplegia 9.9
50 neuropathy 9.9

Graphical network of the top 20 diseases related to Congenital Myasthenic Syndrome with Episodic Apnea:



Diseases related to Congenital Myasthenic Syndrome with Episodic Apnea

Symptoms & Phenotypes for Congenital Myasthenic Syndrome with Episodic Apnea

UMLS symptoms related to Congenital Myasthenic Syndrome with Episodic Apnea:


respiratory distress, ophthalmoparesis, apnea

Drugs & Therapeutics for Congenital Myasthenic Syndrome with Episodic Apnea

Search Clinical Trials , NIH Clinical Center for Congenital Myasthenic Syndrome with Episodic Apnea

Genetic Tests for Congenital Myasthenic Syndrome with Episodic Apnea

Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

Publications for Congenital Myasthenic Syndrome with Episodic Apnea

Articles related to Congenital Myasthenic Syndrome with Episodic Apnea:

# Title Authors Year
1
Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea. ( 30914958 )
2019
2
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. ( 27569547 )
2016
3
Congenital myasthenic syndrome with episodic apnea. ( 19520274 )
2009
4
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. ( 15701560 )
2005
5
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. ( 12756141 )
2003

Variations for Congenital Myasthenic Syndrome with Episodic Apnea

Expression for Congenital Myasthenic Syndrome with Episodic Apnea

Search GEO for disease gene expression data for Congenital Myasthenic Syndrome with Episodic Apnea.

Pathways for Congenital Myasthenic Syndrome with Episodic Apnea

GO Terms for Congenital Myasthenic Syndrome with Episodic Apnea

Cellular components related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 presynapse GO:0098793 8.62 CHAT SLC5A7

Biological processes related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter secretion GO:0007269 9.26 CHAT SLC5A7
2 neuromuscular synaptic transmission GO:0007274 9.16 CHAT SLC5A7
3 neurotransmitter biosynthetic process GO:0042136 8.96 CHAT SLC5A7
4 acetylcholine biosynthetic process GO:0008292 8.62 CHAT SLC5A7

Sources for Congenital Myasthenic Syndrome with Episodic Apnea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....