MCID: HTR024
MIFTS: 9

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 58 6
Htra1-Related Cerebral Angiopathy 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA482072

Summaries for Htra1-Related Cerebral Small Vessel Disease

MalaCards based summary : Htra1-Related Cerebral Small Vessel Disease, also known as htra1-related cerebral angiopathy, is related to erythermalgia, primary and cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy. 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

Diseases related to Htra1-Related Cerebral Small Vessel Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 erythermalgia, primary 10.2
2 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 10.2
3 spondylosis 10.2
4 neuropathy 10.2
5 alopecia 10.2

Graphical network of the top 20 diseases related to Htra1-Related Cerebral Small Vessel Disease:



Diseases related to 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

Articles related to Htra1-Related Cerebral Small Vessel Disease:

# Title Authors PMID Year
1
Cutaneous Sensory and Autonomic Small Fiber Neuropathy in HTRA1-Related Cerebral Small Vessel Disease. 61
33313782 2020
2
HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature. 61
32719647 2020

Variations for Htra1-Related Cerebral Small Vessel Disease

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HTRA1 NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) SNV Likely pathogenic 7487 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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