PedAM

Pediatric Disease Annotations & Medicines


	spinal muscular atrophy

Disease ID	303
Disease	spinal muscular atrophy
Definition	A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
Synonym	amyotrophies, spinal amyotrophy, spinal atrophies muscular spinal atrophy muscular sma spinal atrophy muscular spinal atrophy spinal muscular atrophy, spinal muscular muscle spinal atrophy muscular atrophy spinal muscular atrophy, spinal muscular atrophy, spinal [disease/finding] muscular spinal atrophy sma sma - spinal muscular atrophy spinal amyotrophies spinal amyotrophy spinal muscl atrophy nos spinal muscle atrophy spinal muscle degeneration spinal muscle wasting spinal muscular atrophy (disorder) spinal muscular atrophy nos spinal muscular atrophy nos (disorder) spinal muscular atrophy, nos spinal muscular atrophy, unspecified unspecified spinal muscular atrophy unspecified spinal muscular atrophy (disorder)
DOID	DOID:12377
ICD10	ICD10CM:G12.9
UMLS	C0026847
MeSH	D009134
SNOMED-CT	SNOMEDCT_US_2016_09_01:5262007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0014544 \| epilepsy \| 7 C0751778 \| progressive myoclonic epilepsy \| 4 C0036439 \| scoliosis \| 2 C1261175 \| pontocerebellar hypoplasia \| 2 C0035229 \| respiratory insufficiency \| 2 C0027819 \| neuroblastoma \| 1 C0029124 \| optic atrophy \| 1 C0037773 \| hereditary spastic paraplegia \| 1 C0270853 \| juvenile myoclonic epilepsy \| 1 C0030486 \| paraplegia \| 1 C0026850 \| muscular dystrophy \| 1 C0028754 \| adiposity \| 1 C0026848 \| myopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) TRPV4 \| 59341 \| CTD_human DYNC1H1 \| 1778 \| CLINVAR;GHR VAPB \| 9217 \| GHR AR \| 367 \| GHR UBA1 \| 7317 \| GHR SMN2 \| 6607 \| CTD_human;GHR SMN1 \| 6606 \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 4671 \| NAIP \| infer 6606 \| SMN1 \| infer 6607 \| SMN2 \| infer 348 \| APOE \| infer 167410 \| LIX1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:209) 54432 \| YIPF1 \| DISEASES 9319 \| TRIP13 \| DISEASES 158 \| ADSL \| DISEASES 6767 \| ST13 \| DISEASES 7443 \| VRK1 \| DISEASES 5721 \| PSME2 \| DISEASES 10423 \| CDIPT \| DISEASES 83988 \| NCALD \| DISEASES 1158 \| CKM \| DISEASES 2091 \| FBL \| DISEASES 6528 \| SLC5A5 \| DISEASES 4232 \| MEST \| DISEASES 2218 \| FKTN \| DISEASES 5216 \| PFN1 \| DISEASES 3312 \| HSPA8 \| DISEASES 4617 \| MYF5 \| DISEASES 8683 \| SRSF9 \| DISEASES 7942 \| TFEB \| DISEASES 3670 \| ISL1 \| DISEASES 29959 \| NRBP1 \| DISEASES 79084 \| WDR77 \| DISEASES 9615 \| GDA \| DISEASES 5217 \| PFN2 \| DISEASES 23435 \| TARDBP \| DISEASES 8161 \| COIL \| DISEASES 51299 \| NRN1 \| DISEASES 6310 \| ATXN1 \| DISEASES 10054 \| UBA2 \| DISEASES 58504 \| ARHGAP22 \| DISEASES 80317 \| ZKSCAN3 \| DISEASES 9997 \| SCO2 \| DISEASES 23229 \| ARHGEF9 \| DISEASES 3337 \| DNAJB1 \| DISEASES 3508 \| IGHMBP2 \| DISEASES 23640 \| HSPBP1 \| DISEASES 10894 \| LYVE1 \| DISEASES 10468 \| FST \| DISEASES 27429 \| HTRA2 \| DISEASES 2016 \| EMX1 \| DISEASES 1329 \| COX5B \| DISEASES 6426 \| SRSF1 \| DISEASES 9568 \| GABBR2 \| DISEASES 9982 \| FGFBP1 \| DISEASES 2660 \| MSTN \| DISEASES 23603 \| CORO1C \| DISEASES 92521 \| SPECC1 \| DISEASES 8099 \| CDK2AP1 \| DISEASES 59341 \| TRPV4 \| DISEASES 10728 \| PTGES3 \| DISEASES 1387 \| CREBBP \| DISEASES 6855 \| SYP \| DISEASES 28960 \| DCPS \| DISEASES 57679 \| ALS2 \| DISEASES 51602 \| NOP58 \| DISEASES 9379 \| NRXN2 \| DISEASES 1181 \| CLCN2 \| DISEASES 56922 \| MCCC1 \| DISEASES 3073 \| HEXA \| DISEASES 6647 \| SOD1 \| DISEASES 207 \| AKT1 \| DISEASES 79760 \| GEMIN7 \| DISEASES 51365 \| PLA1A \| DISEASES 2966 \| GTF2H2 \| DISEASES 526 \| ATP6V1B2 \| DISEASES 636 \| BICD1 \| DISEASES 26353 \| HSPB8 \| DISEASES 79833 \| GEMIN6 \| DISEASES 83734 \| ATG10 \| DISEASES 3192 \| HNRNPU \| DISEASES 25929 \| GEMIN5 \| DISEASES 26060 \| APPL1 \| DISEASES 10120 \| ACTR1B \| DISEASES 10642 \| IGF2BP1 \| DISEASES 55585 \| UBE2Q1 \| DISEASES 60680 \| CELF5 \| DISEASES 10197 \| PSME3 \| DISEASES 8927 \| BSN \| DISEASES 4131 \| MAP1B \| DISEASES 29896 \| TRA2A \| DISEASES 51808 \| PHAX \| DISEASES 140578 \| CHODL \| DISEASES 440026 \| TMEM41B \| DISEASES 598 \| BCL2L1 \| DISEASES 3479 \| IGF1 \| DISEASES 9963 \| SLC23A1 \| DISEASES 3308 \| HSPA4 \| DISEASES 7200 \| TRH \| DISEASES 57597 \| BAHCC1 \| DISEASES 6588 \| SLN \| DISEASES 4330 \| MN1 \| DISEASES 57599 \| WDR48 \| DISEASES 11338 \| U2AF2 \| DISEASES 8487 \| GEMIN2 \| DISEASES 2733 \| GLE1 \| DISEASES 10073 \| SNUPN \| DISEASES 836 \| CASP3 \| DISEASES 5870 \| RAB6A \| DISEASES 10432 \| RBM14 \| DISEASES 10657 \| KHDRBS1 \| DISEASES 55072 \| RNF31 \| DISEASES 203859 \| ANO5 \| DISEASES 1310 \| COL19A1 \| DISEASES 92609 \| TIMM50 \| DISEASES 10808 \| HSPH1 \| DISEASES 3183 \| HNRNPC \| DISEASES 783 \| CACNB2 \| DISEASES 6683 \| SPAST \| DISEASES 8648 \| NCOA1 \| DISEASES 50628 \| GEMIN4 \| DISEASES 55 \| ACPP \| DISEASES 9604 \| RNF14 \| DISEASES 4670 \| HNRNPM \| DISEASES 339344 \| MYPOP \| DISEASES 1272 \| CNTN1 \| DISEASES 6432 \| SRSF7 \| DISEASES 84987 \| COX14 \| DISEASES 80258 \| EFHC2 \| DISEASES 91624 \| NEXN \| DISEASES 9001 \| HAP1 \| DISEASES 3320 \| HSP90AA1 \| DISEASES 84324 \| SARNP \| DISEASES 3300 \| DNAJB2 \| DISEASES 7317 \| UBA1 \| DISEASES 3178 \| HNRNPA1 \| DISEASES 1431 \| CS \| DISEASES 9962 \| SLC23A2 \| DISEASES 285489 \| DOK7 \| DISEASES 875 \| CBS \| DISEASES 9672 \| SDC3 \| DISEASES 755 \| C21orf2 \| DISEASES 57556 \| SEMA6A \| DISEASES 4800 \| NFYA \| DISEASES 6133 \| RPL9 \| DISEASES 8293 \| SERF1A \| DISEASES 3064 \| HTT \| DISEASES 6904 \| TBCD \| DISEASES 6840 \| SVIL \| DISEASES 5358 \| PLS3 \| DISEASES 1778 \| DYNC1H1 \| DISEASES 6651 \| SON \| DISEASES 1822 \| ATN1 \| DISEASES 151987 \| PPP4R2 \| DISEASES 23299 \| BICD2 \| DISEASES 1996 \| ELAVL4 \| DISEASES 85569 \| GALP \| DISEASES 60 \| ACTB \| DISEASES 8852 \| AKAP4 \| DISEASES 6427 \| SRSF2 \| DISEASES 773 \| CACNA1A \| DISEASES 1639 \| DCTN1 \| DISEASES 8678 \| BECN1 \| DISEASES 1122 \| CHML \| DISEASES 127833 \| SYT2 \| DISEASES 1314 \| COPA \| DISEASES 9531 \| BAG3 \| DISEASES 10285 \| SMNDC1 \| DISEASES 10492 \| SYNCRIP \| DISEASES 11218 \| DDX20 \| DISEASES 10121 \| ACTR1A \| DISEASES 9221 \| NOLC1 \| DISEASES 55170 \| PRMT6 \| DISEASES 2334 \| AFF2 \| DISEASES 2332 \| FMR1 \| DISEASES 27316 \| RBMX \| DISEASES 9295 \| SRSF11 \| DISEASES 27063 \| ANKRD1 \| DISEASES 6428 \| SRSF3 \| DISEASES 6429 \| SRSF4 \| DISEASES 84676 \| TRIM63 \| DISEASES 10236 \| HNRNPR \| DISEASES 367 \| AR \| DISEASES 1290 \| COL5A2 \| DISEASES 3293 \| HSD17B3 \| DISEASES 5081 \| PAX7 \| DISEASES 2395 \| FXN \| DISEASES 375790 \| AGRN \| DISEASES 3301 \| DNAJA1 \| DISEASES 203228 \| C9orf72 \| DISEASES 54960 \| GEMIN8 \| DISEASES 6606 \| SMN1 \| DISEASES 6607 \| SMN2 \| DISEASES 728492 \| SERF1B \| DISEASES 8228 \| PNPLA4 \| DISEASES 10528 \| NOP56 \| DISEASES 427 \| ASAH1 \| DISEASES 51429 \| SNX9 \| DISEASES 5901 \| RAN \| DISEASES 4287 \| ATXN3 \| DISEASES 2596 \| GAP43 \| DISEASES 6430 \| SRSF5 \| DISEASES 7041 \| TGFB1I1 \| DISEASES 6314 \| ATXN7 \| DISEASES 22976 \| PAXIP1 \| DISEASES 51701 \| NLK \| DISEASES 2531 \| KDSR \| DISEASES 1385 \| CREB1 \| DISEASES 10556 \| RPP30 \| DISEASES 10659 \| CELF2 \| DISEASES 11171 \| STRAP \| DISEASES 8031 \| NCOA4 \| DISEASES 387 \| RHOA \| DISEASES 3483 \| IGFALS \| DISEASES 6434 \| TRA2B \| DISEASES 400916 \| CHCHD10 \| DISEASES 573 \| BAG1 \| DISEASES 22987 \| SV2C \| DISEASES 114907 \| FBXO32 \| DISEASES 4671 \| NAIP \| DISEASES 56899 \| ANKS1B \| DISEASES
Locus	(Waiting for update.)

Disease ID	303
Disease	spinal muscular atrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:24) HP:0002098 \| Respiratory distress \| 30 HP:0001321 \| Small cerebellum \| 2 HP:0012378 \| Fatigue \| 2 HP:0002650 \| Scoliosis \| 2 HP:0002093 \| progressive respiratory failure \| 2 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0002804 \| Arthrogryposis multiplex congenita \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0003560 \| Muscular dystrophy \| 1 HP:0002205 \| Frequent respiratory infections \| 1 HP:0012531 \| Pain \| 1 HP:0002194 \| Delayed motor skills \| 1 HP:0011947 \| Respiratory infection \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0010307 \| Stridor \| 1 HP:0010550 \| Paraplegia \| 1 HP:0010807 \| Open bite between upper and lower teeth \| 1 HP:0003006 \| Neuroblastoma \| 1 HP:0001270 \| Motor retardation \| 1 HP:0007373 \| Motor neuron atrophy \| 1 HP:0001258 \| Spastic paraplegia, lower limb \| 1 HP:0001252 \| Hypotonia \| 1 HP:0002180 \| Neurodegeneration \| 1

Disease ID	303
Disease	spinal muscular atrophy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:15) C2712323 \| hypoglycaemia C2364118 \| weakness C2364114 \| tremor C2364051 \| fatigue C1563743 \| adiposity C1145670 \| respiratory failure C0855197 \| testicular cancer C0700208 \| scoliosis C0342782 \| depletion of mitochondrial dna C0268457 \| aminoacidemia C0037315 \| sleep-disordered breathing C0037315 \| sleep disordered breathing C0027831 \| neurofibromatosis 1 C0026848 \| myopathy C0005940 \| bone disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0015672 \| fatigue \| 2 C0036439 \| scoliosis \| 2 C0004093 \| weakness \| 1 C0026848 \| myopathy \| 1 C0028754 \| adiposity \| 1

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs713993043	NA	1778	DYNC1H1	umls:C0026847	CLINVAR	NA	0.121900093	NA	DYNC1H1	14	101980380	G	T
rs75660264	21082361	6607	SMN2	umls:C0026847	BeFree	We also show that while two SMN proteins harbouring SMA-causing point mutations (A2G and S262I) are efficiently targeted to CBs, they also display reduced nuclear movement.	0.272351306	2011	SMN1	5	70946127	G	T

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

GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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