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encyclopedia of Rare Disease Annotation for Precision Medicine

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	carasil

Disease ID	910
Disease	carasil
Definition	CARASIL, Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, is an inherited disease with symptoms of stroke, hair loss, and low back pain The disease is rare and has only been diagnosed in about patients, mostly of Japanese descent but few of Chinese and Spanish descent There is currently no cure for CARASIL. - NORD Reference: NORD
Synonym	carasil syndrome cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) cerebrovascular disease with thin skin, alopecia, and disc disease familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension maeda syndrome nemoto disease subcortical vascular encephalopathy, progressive
Orphanet	ORPHANET:199354
OMIM	OMIM:600142
UMLS	C1838577
SNOMED-CT	SNOMEDCT_US_2016_09_01:703219008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0022658 \| nephropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5654 \| HTRA1 \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) HTRA1 \| 10q26.13

Disease ID	910
Disease	carasil
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0000112 \| Nephropathy \| 1 HP:0002617 \| Aneurysmal dilatation \| 1

Disease ID	910
Disease	carasil
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0852949 \| arteriopathy C0270612 \| leukoencephalopathy C0022116 \| ischemia
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113993968	NA	5654	HTRA1	umls:C1838577	CLINVAR	NA	0.361900093	NA	HTRA1;LOC105378526	10	122489603	G	A
rs113993968	19387015	5654	HTRA1	umls:C1838577	UNIPROT	CARASIL is associated with mutations in the HTRA1 gene.	0.361900093	2009	HTRA1;LOC105378526	10	122489603	G	A
rs113993969	NA	5654	HTRA1	umls:C1838577	CLINVAR	NA	0.361900093	NA	HTRA1	10	122506802	G	A
rs113993969	19387015	5654	HTRA1	umls:C1838577	UNIPROT	CARASIL is associated with mutations in the HTRA1 gene.	0.361900093	2009	HTRA1	10	122506802	G	A
rs113993970	NA	5654	HTRA1	umls:C1838577	CLINVAR	NA	0.361900093	NA	HTRA1	10	122506817	C	T
rs113993971	NA	5654	HTRA1	umls:C1838577	CLINVAR	NA	0.361900093	NA	HTRA1	10	122508758	C	T
rs587776445	NA	5654	HTRA1	umls:C1838577	CLINVAR	NA	0.361900093	NA	HTRA1	10	122506734	G	A
rs587776446	NA	5654	HTRA1	umls:C1838577	CLINVAR	NA	0.361900093	NA	HTRA1	10	122506767	C	T
rs587776447	NA	5654	HTRA1	umls:C1838577	CLINVAR	NA	0.361900093	NA	HTRA1	10	122508741	T	C
rs587776448	NA	5654	HTRA1	umls:C1838577	CLINVAR	NA	0.361900093	NA	HTRA1;LOC105378525	10	122461778	G	-
rs587776449	NA	5654	HTRA1	umls:C1838577	CLINVAR	NA	0.361900093	NA	HTRA1	10	122506874	G	A
rs587776873	NA	5654	HTRA1	umls:C1838577	CLINVAR	NA	0.361900093	NA	HTRA1	10	122506796	G	A,C

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	910
Disease	carasil
Case	(Waiting for update.)

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