U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

HTRA1-related cerebral small vessel disease

MedGen UID:
1843260
•Concept ID:
C5680099
•
Disease or Syndrome
Synonym: HTRA1-related cerebral angiopathy
 
Orphanet: ORPHA482072

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • HTRA1-related cerebral small vessel disease

Recent clinical studies

Etiology

Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.
Zhou H, Jiao B, Ouyang Z, Wu Q, Shen L, Fang L
Mol Genet Genomic Med 2022 Oct;10(10):e2032. Epub 2022 Aug 10 doi: 10.1002/mgg3.2032. PMID: 35946346Free PMC Article
Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.
Zhang H, Qin X, Shi Y, Gao X, Wang F, Wang H, Shang J, Zhao J, Zhang J, Shao F
Neurogenetics 2021 Jul;22(3):187-194. Epub 2021 May 8 doi: 10.1007/s10048-021-00646-5. PMID: 33963955
HTRA1-related autosomal dominant cerebral small vessel disease.
Liu JY, Zhu YC, Zhou LX, Wei YP, Mao CH, Cui LY, Peng B, Yao M
Chin Med J (Engl) 2020 Oct 26;134(2):178-184. doi: 10.1097/CM9.0000000000001176. PMID: 33109952Free PMC Article
Hereditary causes of ischemic cerebral small vessel disease.
Paraskevas GP
Hell J Nucl Med 2019 Jan-Apr;22 Suppl:95-101. PMID: 30877727

Diagnosis

Patients with heterozygous HTRA1-related cerebral small vessel disease misdiagnosed with other diseases: Two case reports.
Kitahara S, Tsuboguchi S, Uemura M, Nozaki H, Kanazawa M, Onodera O
Clin Neurol Neurosurg 2022 Dec;223:107502. Epub 2022 Oct 31 doi: 10.1016/j.clineuro.2022.107502. PMID: 36334553
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.
Muthusamy K, Ferrer A, Klee EW, Wierenga KJ, Gavrilova RH
Mol Genet Genomic Med 2021 Oct;9(10):e1799. Epub 2021 Sep 12 doi: 10.1002/mgg3.1799. PMID: 34510819Free PMC Article
Two Unique Mutations in HTRA1-Related Cerebral Small Vessel Disease in North America and Africa and Literature Review.
Shang T, Pinho M, Ray D, Khera A
J Stroke Cerebrovasc Dis 2021 Nov;30(11):106029. Epub 2021 Aug 27 doi: 10.1016/j.jstrokecerebrovasdis.2021.106029. PMID: 34461444
One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.
Bekircan-Kurt CE, Çetinkaya A, Gocmen R, Koşukcu C, Soylemezoglu F, Arsava EM, Tuncer A, Erdem-Ozdamar S, Akarsu NA, Topcuoglu MA
J Stroke Cerebrovasc Dis 2021 Sep;30(9):105997. Epub 2021 Jul 21 doi: 10.1016/j.jstrokecerebrovasdis.2021.105997. PMID: 34303089
HTRA1-related autosomal dominant cerebral small vessel disease.
Liu JY, Zhu YC, Zhou LX, Wei YP, Mao CH, Cui LY, Peng B, Yao M
Chin Med J (Engl) 2020 Oct 26;134(2):178-184. doi: 10.1097/CM9.0000000000001176. PMID: 33109952Free PMC Article

Prognosis

Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.
Zhang H, Qin X, Shi Y, Gao X, Wang F, Wang H, Shang J, Zhao J, Zhang J, Shao F
Neurogenetics 2021 Jul;22(3):187-194. Epub 2021 May 8 doi: 10.1007/s10048-021-00646-5. PMID: 33963955

Clinical prediction guides

Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.
Zhang H, Qin X, Shi Y, Gao X, Wang F, Wang H, Shang J, Zhao J, Zhang J, Shao F
Neurogenetics 2021 Jul;22(3):187-194. Epub 2021 May 8 doi: 10.1007/s10048-021-00646-5. PMID: 33963955
HTRA1-related autosomal dominant cerebral small vessel disease.
Liu JY, Zhu YC, Zhou LX, Wei YP, Mao CH, Cui LY, Peng B, Yao M
Chin Med J (Engl) 2020 Oct 26;134(2):178-184. doi: 10.1097/CM9.0000000000001176. PMID: 33109952Free PMC Article

Recent systematic reviews

One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.
Bekircan-Kurt CE, Çetinkaya A, Gocmen R, Koşukcu C, Soylemezoglu F, Arsava EM, Tuncer A, Erdem-Ozdamar S, Akarsu NA, Topcuoglu MA
J Stroke Cerebrovasc Dis 2021 Sep;30(9):105997. Epub 2021 Jul 21 doi: 10.1016/j.jstrokecerebrovasdis.2021.105997. PMID: 34303089
Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.
Zhang H, Qin X, Shi Y, Gao X, Wang F, Wang H, Shang J, Zhao J, Zhang J, Shao F
Neurogenetics 2021 Jul;22(3):187-194. Epub 2021 May 8 doi: 10.1007/s10048-021-00646-5. PMID: 33963955

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...