Hereditary Hemorrhagic Telangiectasia(Osler Weber Rendu syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Blood disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Blood disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ENG/2022 | endoglin | 9q34.11 | Chr9, NC_000009.12 (127815016..127854658, complement) |
39643 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ACVRL1/94 | activin A receptor like type 1 | 12q13.13 | Chr12, NC_000012.12 (51906944..51923361) |
16418 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |