PedAM

Pediatric Disease Annotations & Medicines


	moyamoya disease

Disease ID	15
Disease	moyamoya disease
Definition	A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults.
Synonym	cerebrovascular moyamoya dis cerebrovascular moyamoya disease disease moya moya disease moyamoya disease, moya-moya moya disease moya moya dis moya moya disease moya-moya disease moyamoya moyamoya dis moyamoya disease (disorder) moyamoya disease [disease/finding] moyamoya syndrome progressive intracranial arterial occlusion progressive intracranial arterial occlusion (disorder) progressive intracranial occlusive arteropathy (moyamoya)
Orphanet	ORPHANET:2573
OMIM	OMIM:252350
DOID	DOID:13099
ICD10	ICD10CM:I67.5
UMLS	C0026654
MeSH	D009072
SNOMED-CT	SNOMEDCT_US_2016_09_01:89142007;SNOMEDCT_US_2016_09_01:69116000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:52) C0007785 \| cerebral infarct \| 8 C0007785 \| cerebral infarction \| 7 C0018213 \| graves' disease \| 6 C0021053 \| immune disease \| 3 C0007766 \| cranial aneurysm \| 3 C0022116 \| ischemia \| 3 C0007766 \| intracranial aneurysms \| 3 C0020538 \| hypertension \| 3 C0007785 \| cerebral ischemia \| 3 C0007766 \| intracranial aneurysm \| 3 C0003857 \| arteriovenous malformation \| 2 C0007785 \| cerebral infarctions \| 2 C0085113 \| neurofibromatosis \| 2 C0018213 \| graves disease \| 2 C0014544 \| epilepsy \| 2 C0242231 \| coronary artery stenosis \| 2 C0041408 \| turner syndrome \| 2 C0017919 \| glycogen storage disease \| 1 C0040034 \| thrombocytopenia \| 1 C0015625 \| fanconi anemia \| 1 C0272286 \| immune thrombocytopenia \| 1 C0007785 \| cerebral infarcts \| 1 C0007786 \| brain ischemia \| 1 C0042373 \| vascular disease \| 1 C0037889 \| hereditary spherocytosis \| 1 C0547030 \| visual disturbance \| 1 C0025362 \| mental retardation \| 1 C0026850 \| muscular dystrophy \| 1 C0751955 \| brain infarct \| 1 C0175702 \| williams syndrome \| 1 C0007787 \| transient ischemic attack \| 1 C0002871 \| anemia \| 1 C0206660 \| germinoma \| 1 C0020542 \| pulmonary hypertension \| 1 C0010068 \| coronary heart disease \| 1 C1290398 \| cerebral artery aneurysm \| 1 C0022116 \| ischaemia \| 1 C0023264 \| leigh syndrome \| 1 C0011880 \| diabetic ketoacidosis \| 1 C0011847 \| diabetes \| 1 C0020545 \| renovascular hypertension \| 1 C0547030 \| visual disturbances \| 1 C0027873 \| neuromyelitis optica \| 1 C0011849 \| diabetes mellitus \| 1 C0263401 \| cutis marmorata \| 1 C0039730 \| thalassemia \| 1 C0158699 \| renal agenesis \| 1 C1619734 \| pulmonary arterial hypertension \| 1 C0020538 \| vascular hypertension \| 1 C0751955 \| brain infarction \| 1 C0740392 \| middle cerebral artery infarction \| 1 C0018799 \| heart disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) ACTA2 \| 59 \| ORPHANET RNF213 \| 57674 \| GWASCAT;GHR;ORPHANET MYMY1 \| 50960 \| OMIM
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 3106 \| HLA-B \| infer 4322 \| MMP13 \| infer 4313 \| MMP2 \| infer 4314 \| MMP3 \| infer 4318 \| MMP9 \| infer 57674 \| RNF213 \| infer 7077 \| TIMP2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:98) 7076 \| TIMP1 \| DISEASES 123263 \| MTFMT \| DISEASES 7040 \| TGFB1 \| DISEASES 3082 \| HGF \| DISEASES 59 \| ACTA2 \| DISEASES 55907 \| CMAS \| DISEASES 51185 \| CRBN \| DISEASES 6718 \| AKR1D1 \| DISEASES 56269 \| IRGC \| DISEASES 8854 \| ALDH1A2 \| DISEASES 10343 \| PKDREJ \| DISEASES 80759 \| KHDC1 \| DISEASES 9038 \| TAAR5 \| DISEASES 9958 \| USP15 \| DISEASES 6496 \| SIX3 \| DISEASES 4659 \| PPP1R12A \| DISEASES 5159 \| PDGFRB \| DISEASES 23531 \| MMD \| DISEASES 10847 \| SRCAP \| DISEASES 7077 \| TIMP2 \| DISEASES 3791 \| KDR \| DISEASES 2247 \| FGF2 \| DISEASES 7375 \| USP4 \| DISEASES 8034 \| SLC25A16 \| DISEASES 25953 \| PNKD \| DISEASES 5903 \| RANBP2 \| DISEASES 9056 \| SLC7A7 \| DISEASES 7079 \| TIMP4 \| DISEASES 22808 \| MRAS \| DISEASES 5473 \| PPBP \| DISEASES 2982 \| GUCY1A3 \| DISEASES 10085 \| EDIL3 \| DISEASES 1381 \| CRABP1 \| DISEASES 4314 \| MMP3 \| DISEASES 3689 \| ITGB2 \| DISEASES 10663 \| CXCR6 \| DISEASES 57521 \| RPTOR \| DISEASES 5340 \| PLG \| DISEASES 947 \| CD34 \| DISEASES 1068 \| CETN1 \| DISEASES 10743 \| RAI1 \| DISEASES 9625 \| AATK \| DISEASES 57674 \| RNF213 \| DISEASES 23545 \| ATP6V0A2 \| DISEASES 342184 \| FMN1 \| DISEASES 3043 \| HBB \| DISEASES 27445 \| PCLO \| DISEASES 54821 \| ERCC6L \| DISEASES 3984 \| LIMK1 \| DISEASES 375056 \| MIA3 \| DISEASES 113675 \| SDSL \| DISEASES 2066 \| ERBB4 \| DISEASES 79092 \| CARD14 \| DISEASES 3921 \| RPSA \| DISEASES 2873 \| GPS1 \| DISEASES 80781 \| COL18A1 \| DISEASES 4763 \| NF1 \| DISEASES 2547 \| XRCC6 \| DISEASES 799 \| CALCR \| DISEASES 5116 \| PCNT \| DISEASES 115294 \| PCMTD1 \| DISEASES 25902 \| MTHFD1L \| DISEASES 7175 \| TPR \| DISEASES 462 \| SERPINC1 \| DISEASES 55827 \| DCAF6 \| DISEASES 1944 \| EFNA3 \| DISEASES 8036 \| SHOC2 \| DISEASES 116442 \| RAB39B \| DISEASES 79184 \| BRCC3 \| DISEASES 100272147 \| CMC4 \| DISEASES 84722 \| PSRC1 \| DISEASES 7422 \| VEGFA \| DISEASES 4318 \| MMP9 \| DISEASES 1503 \| CTPS1 \| DISEASES 6709 \| SPTAN1 \| DISEASES 55906 \| ZC4H2 \| DISEASES 7546 \| ZIC2 \| DISEASES 4524 \| MTHFR \| DISEASES 11074 \| TRIM31 \| DISEASES 1676 \| DFFA \| DISEASES 5080 \| PAX6 \| DISEASES 10455 \| ECI2 \| DISEASES 83605 \| CCM2 \| DISEASES 9205 \| ZMYM5 \| DISEASES 56953 \| NT5M \| DISEASES 79364 \| ZXDC \| DISEASES 51429 \| SNX9 \| DISEASES 9244 \| CRLF1 \| DISEASES 79659 \| DYNC2H1 \| DISEASES 815 \| CAMK2A \| DISEASES 221938 \| MMD2 \| DISEASES 11277 \| TREX1 \| DISEASES 8910 \| SGCE \| DISEASES 9278 \| ZBTB22 \| DISEASES 8842 \| PROM1 \| DISEASES 3347 \| HTN3 \| DISEASES 84033 \| OBSCN \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) ACTA2 \| 10q23.31 RNF213 \| 17q25.3

Disease ID	15
Disease	moyamoya disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:5) HP:0100659 \| Abnormality of the cerebral vasculature HP:0001250 \| Seizures HP:0001009 \| Telangiectasia HP:0001249 \| Intellectual disability HP:0002119 \| Ventriculomegaly
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:42) HP:0002617 \| Aneurysmal dilatation \| 26 HP:0001297 \| Cerebral vascular events \| 15 HP:0004944 \| Cerebral artery aneurysm \| 4 HP:0002960 \| Autoimmune condition \| 4 HP:0002170 \| Intracranial hemorrhage \| 4 HP:0002637 \| Brain ischemia \| 4 HP:0030746 \| Intraventricular hemorrhage \| 4 HP:0002140 \| Ischemic stroke \| 4 HP:0002138 \| Subarachnoid hemorrhage \| 4 HP:0002315 \| Headaches \| 3 HP:0000822 \| Hypertension \| 3 HP:0001342 \| Intracerebral hemorrhage \| 3 HP:0002072 \| Chorea \| 2 HP:0012721 \| Venous malformations \| 2 HP:0100026 \| Arteriovenous malformation \| 2 HP:0100022 \| Movement disorder \| 2 HP:0100647 \| Morbus Basedow \| 2 HP:0012474 \| Obstructed carotid artery \| 2 HP:0100543 \| Cognitive deficits \| 2 HP:0001067 \| Neurofibromas \| 2 HP:0005145 \| Narrowing of coronary artery \| 2 HP:0001903 \| Anemia \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0100817 \| Renovascular hypertension \| 1 HP:0100309 \| Subdural hemorrhage \| 1 HP:0001993 \| Ketoacidosis \| 1 HP:0001973 \| Autoimmune thrombocytopenia \| 1 HP:0100620 \| Germinoma \| 1 HP:0001944 \| Dehydration \| 1 HP:0010828 \| Hemifacial spasm \| 1 HP:0001249 \| Mental retardation \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0000965 \| Livedo reticularis \| 1 HP:0030692 \| Brain tumor \| 1 HP:0001953 \| Diabetic ketosis \| 1 HP:0002267 \| Exaggerated startle response \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0002326 \| TIA \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0003560 \| Muscular dystrophy \| 1 HP:0001873 \| Low platelet count \| 1 HP:0002408 \| Cerebral arteriovenous malformation \| 1

Disease ID	15
Disease	moyamoya disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:62) C2713497 \| saccular aneurysms C2713497 \| saccular aneurysm C2062660 \| basilar tip aneurysm C1963101 \| encephalopathy C1962958 \| hematoma C1265769 \| multiple aneurysms C1112413 \| peripheral artery aneurysm C0948229 \| cortical laminar necrosis C0917996 \| cerebral aneurysms C0917996 \| cerebral aneurysm C0917798 \| cerebrovascular ischemia C0917798 \| cerebral ischemia C0751711 \| anterior ischemic optic neuropathy C0751001 \| basilar artery aneurysms C0745413 \| ischemic attack C0740392 \| middle cerebral artery infarction C0547030 \| visual disturbances C0542007 \| cerebral hematoma C0521683 \| chorioretinal atrophy C0392464 \| ventricular aneurysm C0334533 \| arteriovenous malformation C0271561 \| growth hormone deficiency C0265103 \| vertebral artery stenosis C0264746 \| chorea gravidarum C0242084 \| ruptured cerebral aneurysm C0240059 \| intraventricular hemorrhage C0234428 \| disturbance of consciousness C0206660 \| germinoma C0162869 \| ruptured aneurysm C0149678 \| epstein-barr virus infection C0041408 \| turner's syndrome C0040822 \| shaking C0038525 \| subarachnoid hemorrhage C0038454 \| stroke C0038454 \| cerebrovascular accidents C0038454 \| cerebrovascular accident C0038454 \| cerebral infarction C0035302 \| retinal artery occlusion C0035067 \| renal artery stenosis C0032046 \| placenta previa C0028326 \| noonan syndrome C0027708 \| wilms' tumor C0024141 \| le syndrome C0022116 \| ischemia C0021308 \| infarction C0020545 \| renovascular hypertension C0020440 \| hypercapnia C0019080 \| hemorrhage C0018681 \| headaches C0014553 \| absence epilepsy C0010276 \| craniopharyngioma C0008489 \| chorea C0007787 \| transient ischemic attacks C0007787 \| transient ischemic attack (tia) C0007787 \| transient ischemic attack C0007786 \| brain ischemia C0007766 \| intracranial aneurysms C0007766 \| intracranial aneurysm C0002963 \| variant angina pectoris C0002949 \| dissecting aneurysms C0002940 \| aneurysms C0002940 \| aneurysm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:27) C0019080 \| hemorrhage \| 14 C0038454 \| stroke \| 14 C0002940 \| aneurysms \| 13 C0002940 \| aneurysm \| 13 C0007785 \| cerebral infarction \| 5 C0021308 \| infarction \| 5 C0240059 \| intraventricular hemorrhage \| 4 C0038525 \| subarachnoid hemorrhage \| 4 C2062660 \| basilar tip aneurysm \| 3 C0007785 \| cerebral ischemia \| 3 C0022116 \| ischemia \| 3 C0018944 \| hematoma \| 2 C0162869 \| ruptured aneurysm \| 2 C0007766 \| intracranial aneurysms \| 2 C0003857 \| arteriovenous malformation \| 2 C0008489 \| chorea \| 2 C0007786 \| brain ischemia \| 1 C0038454 \| cerebrovascular accident \| 1 C0206660 \| germinoma \| 1 C0740392 \| middle cerebral artery infarction \| 1 C0007766 \| intracranial aneurysm \| 1 C0745413 \| ischemic attack \| 1 C0020545 \| renovascular hypertension \| 1 C1112413 \| peripheral artery aneurysm \| 1 C0018681 \| headaches \| 1 C0547030 \| visual disturbances \| 1 C0007787 \| transient ischemic attack \| 1

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:15)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs112735431	23769926	4314	MMP3	umls:C0026654	BeFree	MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10).	0.002909916	2013	RNF213;LOC100294362	17	80385145	G	A,C
rs112735431	23850618	57674	RNF213	umls:C0026654	BeFree	RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, suggesting that it is a promising in vitro model for MMD.	0.247524428	2013	RNF213;LOC100294362	17	80385145	G	A,C
rs112735431	22688066	57674	RNF213	umls:C0026654	BeFree	Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations.	0.247524428	2012	RNF213;LOC100294362	17	80385145	G	A,C
rs112735431	23994138	57674	RNF213	umls:C0026654	BeFree	The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.	0.247524428	2013	RNF213;LOC100294362	17	80385145	G	A,C
rs112735431	23769926	5159	PDGFRB	umls:C0026654	BeFree	MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10).	0.000542884	2013	RNF213;LOC100294362	17	80385145	G	A,C
rs1800470	22659181	7040	TGFB1	umls:C0026654	BeFree	As no new genetic variants were uncovered in this study of the first exon of TGFB1 in European MMD patients and because of the negative association of rs1800470 and rs1800471 in Japanese MMD patients, a role of this exon of TGFB1 in the genesis of MMD is unlikely.	0.001085767	2012	TGFB1	19	41353016	G	C,A
rs1800471	22659181	7040	TGFB1	umls:C0026654	BeFree	As no new genetic variants were uncovered in this study of the first exon of TGFB1 in European MMD patients and because of the negative association of rs1800470 and rs1800471 in Japanese MMD patients, a role of this exon of TGFB1 in the genesis of MMD is unlikely.	0.001085767	2012	TGFB1	19	41352971	C	G
rs199580307	16475235	7050	TGIF1	umls:C0026654	BeFree	A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease.	0.000271442	2006	TGIF1	18	3457498	T	C
rs3025058	23769926	4314	MMP3	umls:C0026654	BeFree	MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10).	0.002909916	2013	NA	NA	NA	NA	NA
rs3025058	23769926	5159	PDGFRB	umls:C0026654	BeFree	MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10).	0.000542884	2013	NA	NA	NA	NA	NA
rs3828610	23769926	4314	MMP3	umls:C0026654	BeFree	MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10).	0.002909916	2013	PDGFRB	5	150156062	A	C
rs3828610	23769926	5159	PDGFRB	umls:C0026654	BeFree	MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10).	0.000542884	2013	PDGFRB	5	150156062	A	C
rs6565681	21048783	57674	RNF213	umls:C0026654	GWASCAT	A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.	0.247524428	2011	RNF213;LOC100294362	17	80374694	A	G
rs6565681	21048783	57674	RNF213	umls:C0026654	GAD	[A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.]	0.247524428	2011	RNF213;LOC100294362	17	80374694	A	G
rs6565681	21048783	100294362	LOC100294362	umls:C0026654	GWASCAT	A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.	0.12	2011	RNF213;LOC100294362	17	80374694	A	G

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

GWASdb Snp Trait(Total Genotypes:1)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
17	78348494	rs6565681	A	G	rs6565681	21048783	2.00E-08	NA	4.82	[2.73-8.49]	72 Japanese cases; 45 Japanese controls	Japanese(117)	ALL(117)	ASN(117)	ALL(117)	Moyamoya disease	HPOID:0011834	Moyamoya phenomenon	DOID:13099	Moyamoya disease	D009072	Moyamoya Disease	moyamoya disease	Moyamoya disease	rs6565681-A	Research Support, Non-U.S. Gov't	G	RNF213	intron

Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0026654	enalapril	D004656	75847-73-3	moyamoya disease	MESH:D009072	marker/mechanism	9143594

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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