Aliases & Classifications for Htra1 Disorder

MalaCards integrated aliases for Htra1 Disorder:

Name: Htra1 Disorder 24
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts Leukoencephalopathy 24
Carasil 24

Summaries for Htra1 Disorder

MalaCards based summary : Htra1 Disorder, also known as cerebral autosomal recessive arteriopathy with subcortical infarcts leukoencephalopathy, is related to cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 and vascular disease. An important gene associated with Htra1 Disorder is HTRA1 (HtrA Serine Peptidase 1). Affiliated tissues include brain and smooth muscle.

GeneReviews: NBK32533

Related Diseases for Htra1 Disorder

Graphical network of the top 20 diseases related to Htra1 Disorder:



Diseases related to Htra1 Disorder

Symptoms & Phenotypes for Htra1 Disorder

Drugs & Therapeutics for Htra1 Disorder

Search Clinical Trials , NIH Clinical Center for Htra1 Disorder

Genetic Tests for Htra1 Disorder

Anatomical Context for Htra1 Disorder

MalaCards organs/tissues related to Htra1 Disorder:

40
Brain, Smooth Muscle

Publications for Htra1 Disorder

Articles related to Htra1 Disorder:

(show all 30)
# Title Authors PMID Year
1
HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade. 24
31316458 2019
2
A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum? 24
30447605 2019
3
Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation. 24
29797751 2018
4
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
5
Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). 24
27664989 2016
6
Histopathologic Analysis of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): A Report of a New Genetically Confirmed Case and Comparison to 2 Previous Cases. 24
27634960 2016
7
Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL. 24
27164673 2016
8
Timing, rates and spectra of human germline mutation. 24
26656846 2016
9
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. 24
26063658 2015
10
Characteristic features and progression of abnormalities on MRI for CARASIL. 24
26138950 2015
11
Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. 24
25116877 2014
12
Two novel HTRA1 mutations in a European CARASIL patient. 24
24500651 2014
13
A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). 24
23963851 2013
14
A novel mutation in the HTRA1 gene causes CARASIL without alopecia. 24
21482952 2011
15
Substrate-induced remodeling of the active site regulates human HTRA1 activity. 24
21297635 2011
16
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. 24
21215656 2011
17
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. 24
21115960 2010
18
Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. 24
20167921 2010
19
Cadasil. 24
19539236 2009
20
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. 24
19387015 2009
21
Extensive loss of arterial medial smooth muscle cells and mural extracellular matrix in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). 24
18021191 2008
22
Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. 24
17235124 2007
23
A novel hereditary small vessel disease of the brain. 24
16404745 2006
24
The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. 24
15229130 2004
25
Pathology of the cerebral artery in Binswanger's disease in the aged: observation by serial sections and morphometry of the cerebral arteries. 24
15068169 2004
26
HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins. 24
14973287 2004
27
The HtrA family of proteases: implications for protein composition and cell fate. 24
12408815 2002
28
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. 24
11889251 2002
29
Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension. 24
7796840 1995
30
HTRA1 Disorder 61
20437615 2010

Variations for Htra1 Disorder

Expression for Htra1 Disorder

Search GEO for disease gene expression data for Htra1 Disorder.

Pathways for Htra1 Disorder

GO Terms for Htra1 Disorder

Sources for Htra1 Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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