MCID: HTR024
MIFTS: 5

Htra1-Related Cerebral Small Vessel Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Htra1-Related Cerebral Small Vessel Disease

MalaCards integrated aliases for Htra1-Related Cerebral Small Vessel Disease:

Name: Htra1-Related Cerebral Small Vessel Disease 59 6
Htra1-Related Cerebral Angiopathy 59

Classifications:

Orphanet: 59  
Rare neurological diseases


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Orphanet 59 ORPHA482072

Summaries for Htra1-Related Cerebral Small Vessel Disease

MalaCards based summary : Htra1-Related Cerebral Small Vessel Disease, is also known as htra1-related cerebral angiopathy. An important gene associated with Htra1-Related Cerebral Small Vessel Disease is HTRA1 (HtrA Serine Peptidase 1).

Related Diseases for Htra1-Related Cerebral Small Vessel Disease

Symptoms & Phenotypes for Htra1-Related Cerebral Small Vessel Disease

Drugs & Therapeutics for Htra1-Related Cerebral Small Vessel Disease

Search Clinical Trials , NIH Clinical Center for Htra1-Related Cerebral Small Vessel Disease

Genetic Tests for Htra1-Related Cerebral Small Vessel Disease

Anatomical Context for Htra1-Related Cerebral Small Vessel Disease

Publications for Htra1-Related Cerebral Small Vessel Disease

Variations for Htra1-Related Cerebral Small Vessel Disease

ClinVar genetic disease variations for Htra1-Related Cerebral Small Vessel Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HTRA1 NM_002775.5(HTRA1): c.1108C> T (p.Arg370Ter) single nucleotide variant Likely pathogenic rs113993971 10:124268274-124268274 10:122508758-122508758

Expression for Htra1-Related Cerebral Small Vessel Disease

Search GEO for disease gene expression data for Htra1-Related Cerebral Small Vessel Disease.

Pathways for Htra1-Related Cerebral Small Vessel Disease

GO Terms for Htra1-Related Cerebral Small Vessel Disease

Sources for Htra1-Related Cerebral Small Vessel Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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