eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	cerebral cavernous malformations

Disease ID	634
Disease	cerebral cavernous malformations
Definition	A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.
Synonym	angioma, familial cavernous angiomas, familial cavernous angiomatous malformation, cavernous angiomatous malformations, cavernous brain cavernous hemangioma brain cavernous hemangiomas capillary malformation, cerebral capillary malformations, cerebral cavernous angioma, familial cavernous angiomas, familial cavernous angiomatous malformation cavernous angiomatous malformations cavernous haemangioma of brain cavernous hemangioma of brain cavernous hemangioma of brain (disorder) cavernous malformation, cerebral cavernous malformation, familial cavernous malformations, cerebral cavernous malformations, familial cerebral capillary malformation cerebral capillary malformations cerebral cavernous malformation familial cavernous angioma familial cavernous angiomas familial cavernous malformation familial cavernous malformations malformation, cavernous angiomatous malformation, cerebral capillary malformation, cerebral cavernous malformation, familial cavernous malformations, cavernous angiomatous malformations, cerebral capillary malformations, cerebral cavernous malformations, familial cavernous
OMIM	OMIM:116860
UMLS	C2919945
SNOMED-CT	SNOMEDCT_US_2016_09_01:444869007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0014544 \| epilepsy \| 4 C1096063 \| intractable epilepsy \| 1 C0014544 \| epileptic seizure \| 1 C0085113 \| neurofibromatosis \| 1 C0004114 \| astrocytoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 889 \| KRIT1 \| UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 889 \| KRIT1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:63) 203 \| AK1 \| 1.461 \| DISEASES 23294 \| ANKS1A \| 2.058 \| DISEASES 56899 \| ANKS1B \| 2.53 \| DISEASES 722 \| C4BPA \| 1.535 \| DISEASES 83605 \| CCM2 \| 7.936 \| DISEASES 23607 \| CD2AP \| 2.941 \| DISEASES 1003 \| CDH5 \| 1.709 \| DISEASES 79827 \| CLMP \| 1.606 \| DISEASES 56259 \| CTNNBL1 \| 1.701 \| DISEASES 2017 \| CTTN \| 1.612 \| DISEASES 57703 \| CWC22 \| 2.026 \| DISEASES 66002 \| CYP4F12 \| 2.938 \| DISEASES 2035 \| EPB41 \| 1.743 \| DISEASES 2050 \| EPHB4 \| 1.055 \| DISEASES 11082 \| ESM1 \| 1.066 \| DISEASES 7430 \| EZR \| 2.151 \| DISEASES 55731 \| FAM222B \| 3.758 \| DISEASES 79567 \| FAM65A \| 3.991 \| DISEASES 11146 \| GLMN \| 1.996 \| DISEASES 2801 \| GOLGA2 \| 2.826 \| DISEASES 23493 \| HEY2 \| 1.252 \| DISEASES 64423 \| INF2 \| 1.604 \| DISEASES 9270 \| ITGB1BP1 \| 5.666 \| DISEASES 26548 \| ITGB1BP2 \| 2.444 \| DISEASES 9314 \| KLF4 \| 1.111 \| DISEASES 65095 \| KRI1 \| 3.567 \| DISEASES 889 \| KRIT1 \| 8.082 \| DISEASES 5608 \| MAP2K6 \| 1.4 \| DISEASES 4215 \| MAP3K3 \| 4.667 \| DISEASES 4478 \| MSN \| 2.513 \| DISEASES 4519 \| MT-CYB \| 1.431 \| DISEASES 55922 \| NKRF \| 1.265 \| DISEASES 116150 \| NUS1 \| 2.633 \| DISEASES 27328 \| PCDH11X \| 1.801 \| DISEASES 11235 \| PDCD10 \| 7.586 \| DISEASES 5170 \| PDPK1 \| 1.156 \| DISEASES 5515 \| PPP2CA \| 1.325 \| DISEASES 5537 \| PPP6C \| 1.221 \| DISEASES 5590 \| PRKCZ \| 1.102 \| DISEASES 5747 \| PTK2 \| 1.042 \| DISEASES 5783 \| PTPN13 \| 1.331 \| DISEASES 5906 \| RAP1A \| 4.739 \| DISEASES 5962 \| RDX \| 2.653 \| DISEASES 387 \| RHOA \| 2.869 \| DISEASES 80143 \| SIKE1 \| 3.682 \| DISEASES 64754 \| SMYD3 \| 3.723 \| DISEASES 6622 \| SNCA \| 2.691 \| DISEASES 6628 \| SNRPB \| 7.126 \| DISEASES 10617 \| STAMBP \| 2.237 \| DISEASES 8428 \| STK24 \| 4.885 \| DISEASES 10494 \| STK25 \| 5.16 \| DISEASES 85369 \| STRIP1 \| 3.249 \| DISEASES 29966 \| STRN3 \| 2.974 \| DISEASES 29888 \| STRN4 \| 2.759 \| DISEASES 6832 \| SUPV3L1 \| 2.159 \| DISEASES 7010 \| TEK \| 1.017 \| DISEASES 7048 \| TGFBR2 \| 1.048 \| DISEASES 7075 \| TIE1 \| 1.042 \| DISEASES 25987 \| TSKU \| 2.019 \| DISEASES 117581 \| TWIST2 \| 1.332 \| DISEASES 10497 \| UNC13B \| 2.003 \| DISEASES 7422 \| VEGFA \| 1.339 \| DISEASES 26137 \| ZBTB20 \| 1.75 \| DISEASES
Locus	(Waiting for update.)

Disease ID	634
Disease	cerebral cavernous malformations
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0001337 \| Tremor \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0030665 \| Holmes' tremor \| 1 HP:0001250 \| Seizures \| 1 HP:0012481 \| Developmental Venous Anomaly \| 1 HP:0009592 \| Astrocytoma \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0100022 \| Movement disorder \| 1

Disease ID	634
Disease	cerebral cavernous malformations
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1962958 \| hematoma C0036572 \| seizures
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
CCM2	c.30+5delinsTT9	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:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs267607203	24401931	889	KRIT1	umls:C2919945	BeFree	All subjects were carriers of the founder Q455X 'Common Hispanic Mutation' (CHM) in the KRIT1 gene, and had a clinical diagnosis of CCM or had an affected first- or second-degree relative with CCM.	0.220553637	2013	KRIT1	7	92222870	G	A
rs386572987	26122242	5444	PON1	umls:C2919945	BeFree	The present study aimed to investigate the possible association of GLO1 A111E, PON1 Q192R and L55M polymorphisms with the risk of CCMs.	0.000271442	2015	NA	NA	NA	NA	NA
rs4746	26122242	5444	PON1	umls:C2919945	BeFree	The present study aimed to investigate the possible association of GLO1 A111E, PON1 Q192R and L55M polymorphisms with the risk of CCMs.	0.000271442	2015	GLO1	6	38682852	T	G
rs662	26122242	5444	PON1	umls:C2919945	BeFree	The present study aimed to investigate the possible association of GLO1 A111E, PON1 Q192R and L55M polymorphisms with the risk of CCMs.	0.000271442	2015	PON1	7	95308134	T	C
rs854560	26122242	5444	PON1	umls:C2919945	BeFree	The present study aimed to investigate the possible association of GLO1 A111E, PON1 Q192R and L55M polymorphisms with the risk of CCMs.	0.000271442	2015	PON1	7	95316772	A	C,G,N,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	634
Disease	cerebral cavernous malformations
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter