Htra1 Disorder disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HTR025 MIFTS: 12	Htra1 Disorder
Genes Tissues Related diseases Publications Expand all tables

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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

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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

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Related Diseases for Htra1 Disorder

Diseases related to Htra1 Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)

#	Related Disease	Score
1	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	10.6
2	vascular disease	10.3
3	arteriolosclerosis	10.2
4	vascular dementia	10.2
5	lateral meningocele syndrome	10.0
6	migraine with or without aura 1	10.0
7	stroke, ischemic	10.0
8	autosomal recessive disease	10.0
9	diffuse alopecia areata	10.0
10	leukodystrophy	10.0
11	hemiplegia	10.0
12	optic neuritis	10.0
13	neuritis	10.0
14	retinal vascular disease	10.0
15	pseudobulbar affect	10.0
16	back pain	10.0
17	encephalopathy	10.0
18	cathepsin a-related arteriopathy-strokes-leukoencephalopathy	10.0
19	cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy	9.9
20	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	9.9
21	pseudobulbar palsy	9.9
22	spondylosis	9.9
23	arteriosclerosis	9.9
24	mood disorder	9.9
25	alopecia	9.9
26	spasticity	9.9

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

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Symptoms & Phenotypes for Htra1 Disorder

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Drugs & Therapeutics for Htra1 Disorder

Search Clinical Trials , NIH Clinical Center for Htra1 Disorder

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Genetic Tests for Htra1 Disorder

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Anatomical Context for Htra1 Disorder

MalaCards organs/tissues related to Htra1 Disorder:

⁴⁰

Brain, Smooth Muscle

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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	Uemura M...Onodera O	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	Favaretto S...Baracchini C	30447605	2019
3	Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation. ²⁴	Ito J...Kakita A	29797751	2018
4	Parental influence on human germline de novo mutations in 1,548 trios from Iceland. ²⁴	Jonsson H...Stefansson K	28959963	2017
5	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	Ito S...Murayama S	27634960	2016
6	Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). ²⁴	Bugiani M...van der Knaap MS	27664989	2016
7	Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL. ²⁴	Nozaki H...Onodera O	27164673	2016
8	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
9	Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. ²⁴	Verdura E...Tournier-Lasserve E	26063658	2015
10	Characteristic features and progression of abnormalities on MRI for CARASIL. ²⁴	Nozaki H...Onodera O	26138950	2015
11	Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. ²⁴	Nozaki H...Onodera O	25116877	2014
12	Two novel HTRA1 mutations in a European CARASIL patient. ²⁴	Bianchi S...Federico A	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	Chen Y...Zhang X	23963851	2013
14	A novel mutation in the HTRA1 gene causes CARASIL without alopecia. ²⁴	Nishimoto Y...Suzuki N	21482952	2011
15	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. ²⁴	Fukutake T	21215656	2011
16	Substrate-induced remodeling of the active site regulates human HTRA1 activity. ²⁴	Truebestein L...Ehrmann M	21297635	2011
17	A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. ²⁴	Mendioroz M...Montaner J	21115960	2010
18	Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. ²⁴	Adib-Samii P...Markus HS	20167921	2010
19	Cadasil. ²⁴	Chabriat H...Bousser MG	19539236	2009
20	Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. ²⁴	Hara K...Onodera O	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	Oide T...Arima K	18021191	2008
22	Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. ²⁴	Low WC...Kalaria RN	17235124	2007
23	A novel hereditary small vessel disease of the brain. ²⁴	Verreault S...Chabriat H	16404745	2006
24	The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. ²⁴	Singhal S...Markus HS	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	Okeda R...Kuroiwa T	15068169	2004
26	HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins. ²⁴	Oka C...Kawaichi M	14973287	2004
27	The HtrA family of proteases: implications for protein composition and cell fate. ²⁴	Clausen T...Ehrmann M	12408815	2002
28	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. ²⁴	Yanagawa S...Ikeda S	11889251	2002
29	Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension. ²⁴	Fukutake T...Hirayama K	7796840	1995
30	HTRA1 Disorder ⁶¹	Onodera O...Fukutake T	20437615	2010

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Genes for Htra1 Disorder

Genes related to Htra1 Disorder (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HTRA1	HtrA Serine Peptidase 1	Protein Coding	6.12	GeneCards inferred via : Publications (show sections)

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Variations for Htra1 Disorder

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Expression for Htra1 Disorder

Search GEO for disease gene expression data for Htra1 Disorder.

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Pathways for Htra1 Disorder

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GO Terms for Htra1 Disorder

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