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Gene BrowserrightACVRL1

ACVRL1

activin A receptor like type 1

HCNC Approved Symbol
ACVRL1 (HGNC:175)
Genomic Coordinates
12:51,906,944 - 51,923,361 (12q13.13)
Synonyms
HHT2, ALK1, HHT, ACVRLK1, ORW2
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

8Patients

Total 8 patients were diagnosed with a variant in the ACVRL1 gene.

Frequently observed phenotypes (Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

08
Patient count
Epistaxis
 3(37.5%)
Patient Count: 3 (37.5%)

% of total patients presenting each phenotype is shown in parentheses.

 3(37.5%)
Telangiectasia
 3(37.5%)
Patient Count: 3 (37.5%)

% of total patients presenting each phenotype is shown in parentheses.

 3(37.5%)
Anemia
 2(25.0%)
Patient Count: 2 (25.0%)

% of total patients presenting each phenotype is shown in parentheses.

 2(25.0%)
Iron deficiency anemia
 2(25.0%)
Patient Count: 2 (25.0%)

% of total patients presenting each phenotype is shown in parentheses.

 2(25.0%)
5th finger clinodactyly
 1(12.5%)
Patient Count: 1 (12.5%)

% of total patients presenting each phenotype is shown in parentheses.

 1(12.5%)
No Results
• Last updated: 2024-06-30
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