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encyclopedia of Rare Disease Annotation for Precision Medicine

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	congenital myasthenic syndrome

Disease ID	772
Disease	congenital myasthenic syndrome
Definition	A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
Synonym	congen myasthenia gravis congen myasthenic syndromes congenital myasthenia congenital myasthenia (disorder) congenital myasthenia gravis congenital myasthenic syndromes gravi, congenital myasthenia myasthenia gravis congen myasthenia gravis, congenital myasthenic syndrome, congenital myasthenic syndromes congen myasthenic syndromes, congenital myasthenic syndromes, congenital [disease/finding] syndrome, congenital myasthenic syndromes, congenital myasthenic
Orphanet	ORPHANET:590
DOID	DOID:3635
UMLS	C0751882
MeSH	D020294
SNOMED-CT	SNOMEDCT_US_2016_09_01:230672006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0014527 \| epidermolysis bullosa \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:24) 3913 \| LAMB2 \| UNIPROT 5339 \| PLEC \| GHR 1134 \| CHRNA1 \| GHR;UNIPROT;UniProtKB-KW 85365 \| ALG2 \| UniProtKB-KW 6616 \| SNAP25 \| UniProtKB-KW 8292 \| COLQ \| GHR;UNIPROT;UniProtKB-KW 6329 \| SCN4A \| CTD_human;GHR;UNIPROT;UniProtKB-KW 285489 \| DOK7 \| GHR;UNIPROT;UniProtKB-KW 127833 \| SYT2 \| UniProtKB-KW 1798 \| DPAGT1 \| UniProtKB-KW 1146 \| CHRNG \| CTD_human 1144 \| CHRND \| GHR;UNIPROT;UniProtKB-KW 1103 \| CHAT \| GHR;UNIPROT;UniProtKB-KW 4593 \| MUSK \| GHR;UNIPROT;UniProtKB-KW 4038 \| LRP4 \| UniProtKB-KW 1145 \| CHRNE \| GHR;UNIPROT;UniProtKB-KW 199857 \| ALG14 \| UniProtKB-KW 5913 \| RAPSN \| GHR;UNIPROT;UniProtKB-KW 60482 \| SLC5A7 \| UniProtKB-KW 375790 \| AGRN \| UniProtKB-KW;GHR 2673 \| GFPT1 \| UniProtKB-KW;GHR 1305 \| COL13A1 \| UniProtKB-KW 1140 \| CHRNB1 \| GHR;UNIPROT;UniProtKB-KW 6572 \| SLC18A3 \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:135) 55811 \| ADCY10 \| 1.222 \| DISEASES 375790 \| AGRN \| 4.307 \| DISEASES 79868 \| ALG13 \| 2.206 \| DISEASES 199857 \| ALG14 \| 4.045 \| DISEASES 672 \| BRCA1 \| 1.981 \| DISEASES 675 \| BRCA2 \| 1.667 \| DISEASES 680 \| BRS3 \| 1.044 \| DISEASES 721 \| C4B \| 1.009 \| DISEASES 722 \| C4BPA \| 1.662 \| DISEASES 732 \| C8B \| 2.036 \| DISEASES 779 \| CACNA1S \| 1.052 \| DISEASES 801 \| CALM1 \| 1.456 \| DISEASES 23607 \| CD2AP \| 1.482 \| DISEASES 959 \| CD40LG \| 2.718 \| DISEASES 1103 \| CHAT \| 3.575 \| DISEASES 1146 \| CHRNG \| 2.892 \| DISEASES 1180 \| CLCN1 \| 1.094 \| DISEASES 1305 \| COL13A1 \| 2.333 \| DISEASES 8292 \| COLQ \| 6.408 \| DISEASES 1378 \| CR1 \| 1.132 \| DISEASES 1441 \| CSF3R \| 2.112 \| DISEASES 10521 \| DDX17 \| 1.55 \| DISEASES 8525 \| DGKZ \| 1.813 \| DISEASES 1719 \| DHFR \| 1.363 \| DISEASES 285489 \| DOK7 \| 6.338 \| DISEASES 1798 \| DPAGT1 \| 6.468 \| DISEASES 51514 \| DTL \| 1.992 \| DISEASES 1946 \| EFNA5 \| 1.12 \| DISEASES 1999 \| ELF3 \| 1.102 \| DISEASES 2130 \| EWSR1 \| 3.213 \| DISEASES 2197 \| FAU \| 1.561 \| DISEASES 2260 \| FGFR1 \| 2.53 \| DISEASES 11116 \| FGFR1OP \| 2.244 \| DISEASES 2313 \| FLI1 \| 1.501 \| DISEASES 2303 \| FOXC2 \| 1.701 \| DISEASES 2302 \| FOXJ1 \| 1.429 \| DISEASES 448831 \| FRG2 \| 3.318 \| DISEASES 122786 \| FRMD6 \| 1.408 \| DISEASES 2582 \| GALE \| 1.793 \| DISEASES 2673 \| GFPT1 \| 3.868 \| DISEASES 2737 \| GLI3 \| 1.658 \| DISEASES 27333 \| GOLIM4 \| 3.654 \| DISEASES 56261 \| GPCPD1 \| 1.806 \| DISEASES 3108 \| HLA-DMA \| 1.01 \| DISEASES 3187 \| HNRNPH1 \| 3.045 \| DISEASES 3188 \| HNRNPH2 \| 3.311 \| DISEASES 4670 \| HNRNPM \| 1.865 \| DISEASES 3198 \| HOXA1 \| 1.611 \| DISEASES 3339 \| HSPG2 \| 1.929 \| DISEASES 55683 \| KANSL3 \| 1.687 \| DISEASES 102723508 \| KANTR \| 1.191 \| DISEASES 55605 \| KIF21A \| 1.19 \| DISEASES 3916 \| LAMP1 \| 1.059 \| DISEASES 3932 \| LCK \| 1.057 \| DISEASES 3949 \| LDLR \| 1.184 \| DISEASES 26468 \| LHX6 \| 2.053 \| DISEASES 4038 \| LRP4 \| 2.171 \| DISEASES 126364 \| LRRC25 \| 1.813 \| DISEASES 23101 \| MCF2L2 \| 2.503 \| DISEASES 196410 \| METTL7B \| 1.663 \| DISEASES 8972 \| MGAM \| 1.163 \| DISEASES 10367 \| MICU1 \| 1.212 \| DISEASES 4288 \| MKI67 \| 1.428 \| DISEASES 23164 \| MPRIP \| 2.209 \| DISEASES 4512 \| MT-CO1 \| 2.527 \| DISEASES 4513 \| MT-CO2 \| 1.691 \| DISEASES 4519 \| MT-CYB \| 2.162 \| DISEASES 4536 \| MT-ND2 \| 1.789 \| DISEASES 4553 \| MT-TA \| 1.998 \| DISEASES 4511 \| MT-TC \| 2.292 \| DISEASES 4555 \| MT-TD \| 2.31 \| DISEASES 4563 \| MT-TG \| 3.033 \| DISEASES 4564 \| MT-TH \| 2.205 \| DISEASES 4576 \| MT-TT \| 2.565 \| DISEASES 4593 \| MUSK \| 4.956 \| DISEASES 4602 \| MYB \| 1.196 \| DISEASES 4649 \| MYO9A \| 2.372 \| DISEASES 26151 \| NAT9 \| 1.488 \| DISEASES 79625 \| NDNF \| 1.341 \| DISEASES 4723 \| NDUFV1 \| 1.673 \| DISEASES 4897 \| NRCAM \| 1.032 \| DISEASES 5160 \| PDHA1 \| 1.119 \| DISEASES 5213 \| PFKM \| 1.035 \| DISEASES 5223 \| PGAM1 \| 2.39 \| DISEASES 5238 \| PGM3 \| 1.44 \| DISEASES 63895 \| PIEZO2 \| 1.194 \| DISEASES 84992 \| PIGY \| 3.311 \| DISEASES 5293 \| PIK3CD \| 1.399 \| DISEASES 5325 \| PLAGL1 \| 1.945 \| DISEASES 5339 \| PLEC \| 1.764 \| DISEASES 9051 \| PSTPIP1 \| 1.106 \| DISEASES 374308 \| PTCHD3 \| 1.01 \| DISEASES 5817 \| PVR \| 1.676 \| DISEASES 5820 \| PVT1 \| 1.063 \| DISEASES 5901 \| RAN \| 1.092 \| DISEASES 22999 \| RIMS1 \| 1.864 \| DISEASES 6146 \| RPL22 \| 2.561 \| DISEASES 6187 \| RPS2 \| 1.448 \| DISEASES 6202 \| RPS8 \| 2.594 \| DISEASES 6241 \| RRM2 \| 1.443 \| DISEASES 6262 \| RYR2 \| 1.787 \| DISEASES 6329 \| SCN4A \| 3.943 \| DISEASES 6331 \| SCN5A \| 2.04 \| DISEASES 5271 \| SERPINB8 \| 1.415 \| DISEASES 56961 \| SHD \| 2.247 \| DISEASES 7779 \| SLC30A1 \| 1.431 \| DISEASES 6594 \| SMARCA1 \| 1.516 \| DISEASES 27044 \| SND1 \| 1.21 \| DISEASES 9021 \| SOCS3 \| 1.749 \| DISEASES 221833 \| SP8 \| 1.797 \| DISEASES 100131390 \| SP9 \| 1.514 \| DISEASES 10772 \| SRSF10 \| 1.999 \| DISEASES 8803 \| SUCLA2 \| 1.478 \| DISEASES 8802 \| SUCLG1 \| 1.437 \| DISEASES 6613 \| SUMO2 \| 1.075 \| DISEASES 6612 \| SUMO3 \| 1.104 \| DISEASES 127833 \| SYT2 \| 2.03 \| DISEASES 6916 \| TBXAS1 \| 1.429 \| DISEASES 26230 \| TIAM2 \| 2.479 \| DISEASES 51643 \| TMBIM4 \| 1.233 \| DISEASES 8792 \| TNFRSF11A \| 1.738 \| DISEASES 8784 \| TNFRSF18 \| 2.107 \| DISEASES 9760 \| TOX \| 1.609 \| DISEASES 10345 \| TRDN \| 1.236 \| DISEASES 7706 \| TRIM25 \| 2.148 \| DISEASES 9652 \| TTC37 \| 2.42 \| DISEASES 7402 \| UTRN \| 2.624 \| DISEASES 6843 \| VAMP1 \| 2.832 \| DISEASES 7454 \| WAS \| 1.069 \| DISEASES 81030 \| ZBP1 \| 1.288 \| DISEASES 10773 \| ZBTB6 \| 2.83 \| DISEASES 7750 \| ZMYM2 \| 3.563 \| DISEASES 9203 \| ZMYM3 \| 3.044 \| DISEASES 9202 \| ZMYM4 \| 2.725 \| DISEASES 9204 \| ZMYM6 \| 3.165 \| DISEASES
Locus	(Waiting for update.)

Disease ID	772
Disease	congenital myasthenic syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0002104 \| Absence of spontaneous respiration \| 3 HP:0002460 \| Weakness of distal muscles \| 1 HP:0001605 \| Vocal cord paralysis \| 1 HP:0001324 \| Muscular weakness \| 1

Disease ID	772
Disease	congenital myasthenic syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0020074 \| congenital insensitivity to pain with anhidrosis
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
CHRNE	c.1353dupG	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894299	12796535	5913	RAPSN	umls:C0751882	BeFree	The RAPSN mutation N88K is a frequent cause of rapsyn-related CMS in European patients.	0.019874846	2003	RAPSN	11	47448079	G	T
rs121912823	19289695	1103	CHAT	umls:C0751882	BeFree	We present a case of congenital myasthenic syndrome with I336T choline acetyltransferase mutation who presented with numerous attacks of respiratory distress in the infancy period.	0.002985861	2009	CHAT	10	49627681	T	C
rs375215281	15248101	8292	COLQ	umls:C0751882	BeFree	Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.	0.002171535	2004	COLQ;LOC105376965	3	15451691	T	A,C
rs387906803	25562515	4593	MUSK	umls:C0751882	BeFree	Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.	0.001085767	2014	MUSK	9	110767930	C	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	772
Disease	congenital myasthenic syndrome
Case	(Waiting for update.)

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