Previous symbols: ACVRLK1, ORW2. Aliases: HHT2, ALK1, HHT.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Eisenmenger Syndrome | unknown germline | |
| Hereditary Hemorrhagic Telangiectasia Type 2 | causative germlinesomatic loss of function |
mechanism: ACVRL1 Germline Loss-of-Function Variant; Somatic Second-Hit Inactivation of the Remaining ACVRL1 Allele
animal model: Endothelial-specific Alk1 conditional knockout mouse
|
| Heritable Pulmonary Arterial Hypertension | causative |
mechanism: Impaired BMP/TGF-beta vascular signaling
subtype: HHT-associated HPAH
scoped to subtype: HHT-associated HPAH
|
| Vein of Galen malformation | susceptibility |
mechanism: Dysregulated Endothelial Developmental Signaling
|
| Hereditary Hemorrhagic Telangiectasia |
untyped
Pathogenic Mutations
|
mechanism: Impaired BMP/TGF-beta Signaling in Vascular Endothelium
subtype: HHT2
scoped to subtype: HHT2
|
| Pulmonary_hypertension |
untyped
Implicated in PAH, particularly in hereditary hemorrhagic telangiectasia-associated PAH
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| telangiectasia, hereditary hemorrhagic, type 2 MONDO:0010880 | AD | Definitive 2022-12-05 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.