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	cerebral amyloid angiopathy

Disease ID	496
Disease	cerebral amyloid angiopathy
Definition	A heterogeneous group of sporadic or familial disorders characterized by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES. Clinical features include multiple, small lobar CEREBRAL HEMORRHAGE; cerebral ischemia (BRAIN ISCHEMIA); and CEREBRAL INFARCTION. Cerebral amyloid angiopathy is unrelated to generalized AMYLOIDOSIS. Amyloidogenic peptides in this condition are nearly always the same ones found in ALZHEIMER DISEASE. (from Kumar: Robbins and Cotran: Pathologic Basis of Disease, 7th ed., 2005)
Synonym	amyloid angiopathy, cerebral angiopathy congophilic angiopathy, cerebral amyloid angiopathy, congophilic caa - cerebral amyloid angiopathy cerebral amyloid angiopathies cerebral amyloid angiopathy (disorder) cerebral amyloid angiopathy [disease/finding] congophilic angiopathies congophilic angiopathy
DOID	DOID:9246
ICD10	ICD10CM:I68.0
UMLS	C0085220
MeSH	D016657
SNOMED-CT	SNOMEDCT_US_2016_09_01:230724001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0037061 \| siderosis \| 8 C0002395 \| alzheimer's disease \| 6 C0497327 \| dementia \| 4 C0042384 \| angiitis \| 2 C0019114 \| hemosiderosis \| 2 C0007787 \| transient ischemic attacks \| 1 C0007787 \| transient ischemic attack \| 1 C0020258 \| normal pressure hydrocephalus \| 1 C0270612 \| leukoencephalopathy \| 1 C0042373 \| angiopathy \| 1 C0155765 \| microangiopathy \| 1 C0743039 \| progressive dementia \| 1 C0020255 \| hydrocephalus \| 1 C0011570 \| depression \| 1 C0042384 \| vasculitis \| 1 C0035078 \| renal failure \| 1 C0751878 \| central nervous system vasculitis \| 1 C0002726 \| amyloidosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 348 \| APOE \| CTD_human 351 \| APP \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 348 \| APOE \| CIPHER;CTD_human 4035 \| LRP1 \| CIPHER 5444 \| PON1 \| CIPHER 5663 \| PSEN1 \| CIPHER 12 \| SERPINA3 \| CIPHER 351 \| APP \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:64) 2 \| A2M \| 2.137 \| DISEASES 19 \| ABCA1 \| 1.99 \| DISEASES 58 \| ACTA1 \| 1.369 \| DISEASES 199 \| AIF1 \| 2.466 \| DISEASES 361 \| AQP4 \| 1.941 \| DISEASES 522 \| ATP5J \| 1.202 \| DISEASES 497258 \| BDNF-AS \| 2.424 \| DISEASES 79886 \| CAAP1 \| 2.142 \| DISEASES 838 \| CASP5 \| 1.435 \| DISEASES 57091 \| CASS4 \| 1.856 \| DISEASES 81669 \| CCNL2 \| 1.871 \| DISEASES 960 \| CD44 \| 1.33 \| DISEASES 1117 \| CHI3L2 \| 1.927 \| DISEASES 7122 \| CLDN5 \| 2.276 \| DISEASES 4850 \| CNOT4 \| 1.248 \| DISEASES 1284 \| COL4A2 \| 2.154 \| DISEASES 81035 \| COLEC12 \| 2.091 \| DISEASES 1378 \| CR1 \| 1.177 \| DISEASES 1471 \| CST3 \| 5.235 \| DISEASES 9718 \| ECE2 \| 2.673 \| DISEASES 1906 \| EDN1 \| 1.568 \| DISEASES 2021 \| ENDOG \| 1.04 \| DISEASES 54821 \| ERCC6L \| 4.024 \| DISEASES 7430 \| EZR \| 1.626 \| DISEASES 2258 \| FGF13 \| 1.51 \| DISEASES 2551 \| GABPA \| 1.822 \| DISEASES 23015 \| GOLGA8A \| 3.419 \| DISEASES 2934 \| GSN \| 3.915 \| DISEASES 3316 \| HSPB2 \| 2.012 \| DISEASES 3339 \| HSPG2 \| 1.929 \| DISEASES 9445 \| ITM2B \| 4.559 \| DISEASES 58494 \| JAM2 \| 1.833 \| DISEASES 83700 \| JAM3 \| 1.376 \| DISEASES 3766 \| KCNJ10 \| 1.693 \| DISEASES 10242 \| KCNMB2 \| 3.343 \| DISEASES 3949 \| LDLR \| 1.94 \| DISEASES 5641 \| LGMN \| 1.213 \| DISEASES 4099 \| MAG \| 1.71 \| DISEASES 5599 \| MAPK8 \| 1.042 \| DISEASES 4137 \| MAPT \| 2.794 \| DISEASES 51360 \| MBTPS2 \| 2.218 \| DISEASES 83881 \| MIXL1 \| 1.881 \| DISEASES 4311 \| MME \| 2.946 \| DISEASES 79258 \| MMEL1 \| 1.871 \| DISEASES 4318 \| MMP9 \| 1.586 \| DISEASES 93649 \| MYOCD \| 2.459 \| DISEASES 4855 \| NOTCH4 \| 2.506 \| DISEASES 344022 \| NOTO \| 1.415 \| DISEASES 100506658 \| OCLN \| 2.055 \| DISEASES 126014 \| OSCAR \| 1.034 \| DISEASES 5139 \| PDE3A \| 1.592 \| DISEASES 5621 \| PRNP \| 3.845 \| DISEASES 5663 \| PSEN1 \| 4.341 \| DISEASES 5664 \| PSEN2 \| 2.326 \| DISEASES 5797 \| PTPRM \| 2.044 \| DISEASES 5817 \| PVR \| 2.679 \| DISEASES 12 \| SERPINA3 \| 2.682 \| DISEASES 9673 \| SLC25A44 \| 3.344 \| DISEASES 3177 \| SLC29A2 \| 1.284 \| DISEASES 6622 \| SNCA \| 2.583 \| DISEASES 8406 \| SRPX \| 2.339 \| DISEASES 7052 \| TGM2 \| 1.583 \| DISEASES 7138 \| TNNT1 \| 1.047 \| DISEASES 55063 \| ZCWPW1 \| 2.166 \| DISEASES
Locus	(Waiting for update.)

Disease ID	496
Disease	cerebral amyloid angiopathy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0001342 \| Intracerebral hemorrhage \| 6 HP:0000726 \| Dementia \| 4 HP:0002138 \| Subarachnoid hemorrhage \| 3 HP:0001298 \| Encephalopathy \| 3 HP:0002633 \| Vasculitis \| 3 HP:0002326 \| TIA \| 2 HP:0002352 \| Leukoencephalopathy \| 2 HP:0000716 \| Depression \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0002343 \| Normal-pressure hydrocephalus \| 1 HP:0002170 \| Intracranial hemorrhage \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0030049 \| Brain abscess \| 1 HP:0001268 \| Mental deterioration \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0012520 \| Dilatation of Virchow-Robin spaces \| 1

Disease ID	496
Disease	cerebral amyloid angiopathy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:18) C1963101 \| encephalopathy C1962958 \| hematoma C1402315 \| vascular lesions C1281300 \| vascular degeneration C0746408 \| mass lesion C0542007 \| cerebral haematoma C0497327 \| dementia C0271001 \| siderosis C0270614 \| intracranial mass C0270612 \| leukoencephalopathy C0155765 \| microangiopathy C0086439 \| reduced activity C0042384 \| angiitis C0038525 \| subarachnoid hemorrhage C0036572 \| seizures C0022116 \| ischemia C0019080 \| hemorrhage C0018202 \| granulomatous angiitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:9) C0019080 \| hemorrhage \| 9 C0037061 \| siderosis \| 8 C0497327 \| dementia \| 4 C0085584 \| encephalopathy \| 3 C0038525 \| subarachnoid hemorrhage \| 2 C0042384 \| angiitis \| 2 C0270612 \| leukoencephalopathy \| 2 C0018944 \| hematoma \| 1 C0155765 \| microangiopathy \| 1

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

Text Mining Genotype(Total 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
rs63750066	15365148	351	APP	umls:C0085220	BeFree	This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.	0.142870638	2004	APP	21	25891796	C	T
rs6857	25188341	5819	PVRL2	umls:C0085220	GWASCAT	Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.	0.12	2014	PVRL2	19	44888997	C	T

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	496
Disease	cerebral amyloid angiopathy
Case	(Waiting for update.)

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