Version July 2025
| Malformation | Chr region (locus) | Gene | Inheritance pattern(s) | Mutation type(s) |
| Arterial and capillary anomalies | ||||
| Arteriovenous malformations (AVM)[1] | 15q22 | MAP2K1 | Sporadic | Somatic mosaic |
| Ataxia-telangiectasia (AT) | 11q23 (AT1) | ATM | Autosomal recessive | Germline |
| Capillary malformation-arteriovenous malformation (CM-AVM) | 5q14.3 (CMC1) | RASA1 | Autosomal dominant | Germline, somatic 2nd hit |
| Cerebral cavernous malformation (CCM) | 7q21.2 (CCM1) | KRIT1 | Autosomal dominant | Germline, somatic 2nd hit |
| 7p13 (CCM2) | CCM2/malcavernin | Autosomal dominant | Germline, somatic 2nd hit | |
| 3q26.1 (CCM3) | PDCD10 | Autosomal dominant | Germline, somatic 2nd hit | |
| 3q26.3-27.2 (CCM4) | – | Autosomal dominant | – | |
| Hereditary hemorrhagic telangiectasia or Rendu-Osler-Weber (HHT/ROW) | 9q33-34 (HHT1) | ENG | Autosomal dominant | Germline |
| 12q11-14 (HHT2) | ALK1 | Autosomal dominant | Germline | |
| 5q31.3-32 (HHT3) | – | Autosomal dominant | – | |
| 7p14 (HHT4) | – | Autosomal dominant | – | |
| Juvenile polyposis-HHT (JPHT) | 18q21.1 (JPHT) | SMAD4/MADH4 | Autosomal dominant | Germline |
| HHT-like | 10q11.22 | GDF2/BMP9 | – | Germline |
| Isolated capillary malformation (CM) | 1q21.2 | GNAQ | Sporadic | Somatic mosaic |
| Sturge-Weber syndrome (SWS) | 1q21.2 | GNAQ | Sporadic | Somatic mosaic |
| Microcephaly-capillary malformation syndrome (MIC CAP) | 2p13.1 | STAMBP | Autosomal recessive | Germline |
| Venous anomalies | ||||
| Glomuvenous malformation (GVM) | 1p22.1 (VMGLOM) | GLMN | Autosomal dominant | Germline, somatic 2nd hit |
| Cutaneomucosal venous malformation (VMCM) | 9p21 (VMCM1) | TEK/TIE2 | Autosomal dominant | Germline, somatic 2nd hit |
| Unifocal sporadic venous malformation (VM) | 9p21 | TEK/TIE2 | Sporadic | Somatic mosaic |
| Blue rubber bleb nevus syndrome (BRBN) | 9p21 | TEK/TIE2 | Sporadic | Somatic mosaic |
| Lymphatic anomalies | ||||
| Lymphatic malformation (LM)[2] | 3q26 | PIK3CA | Sporadic | Somatic mosaic |
| Primary lymphedema (LE) | ||||
| Primary congenital LE (Nonne-Milroy disease) | 5q35.3 (PCL1) | FLT4/VEGFR3 | Autosomal dominant | Germline |
| 5q35.3 | FLT4/VEGFR3 | Sporadic | De novo germline | |
| 5q35.3 | FLT4/VEGFR3 | Autosomal recessive | Germline | |
| 4q34.3 | VEGFC | Autosomal dominant | Germline | |
| LE-choanal atresia | 1q32.2 | PTPN14 | Autosomal recessive | Germline |
| LE-lymphangiectasia-mental retardation (Hennekarn syndrome) | 18q21.32 | CCBE1 | Autosomal recessive | Germline |
| LE-distichiasis/ptosis/yellow nail | 16q24.3 (LD) | FOXC2 | Autosomal dominant | Germline |
| Hypotrichosis-LE-telangiectasia (HLT) | 20q13.33 (HLT) | SOX18 | Autosomal dominant | Germline |
| 20q13.33 | SOX18 | Autosomal recessive | Germline | |
| LE-myelodysplasia (Emberger syndrome) | 3q21.3 | GATA2 | Autosomal dominant | Germline |
| Four-limb LE | 1q42.13 | GJC2/CX47 | Autosomal dominant | Germline |
| Oculodentodigital syndrome-LE | 6q22.31 | GJA1/CX43 | Autosomal dominant | Germline |
| LE-microcephaly-chorioretinopathy (MLCRD) | 10q24.1 | KIF11/EG5 | Autosomal dominant | Germline |
| Osteoporosis-LE-anhidrotic ectodermal-dysplasia-immunodeficiency (OLEDAID) | Xq28 (IP2) | NEMO/IKBKG | X-linked recessive | Germline |
| LE-hereditary cholestasis (Aagenaes syndrome) | 15q (LCS1) | – | Autosomal recessive | – |
| Combined vascular malformations | ||||
| Klippel-Trenaunay syndrome (KTS) | 5q13.3 | AGGF1/VG5Q | Sporadic | Germline |
| PTEN hamartoma tumor syndrome (PHTS) (including Cowden, Bannayan-Riley-Ruvalcaba, and "Proteus" syndromes) | 10q23.3 (PHTS) | PTEN | Autosomal dominant | Germline |
| Cowden, Cowden-like syndrome | 3q26.3 | PIK3CA | Autosomal dominant | Germline |
| 14q32.3 | AKT1 | Autosomal dominant | Germline | |
| "Proteus" syndrome | 14q32.3 | AKT1 | Sporadic | Somatic mosaic |
| Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) | 3q26.3 | PIK3CA | Sporadic | Somatic mosaic |
Adapted with permission from: Limaye N, Vikkula M. Molecular and genetic aspects of hemangiomas and vascular malformations. In: Hemangiomas and Vascular Malformations: An Atlas of Diagnosis and Treatment, 2nd ed, Matassi R, Loose DA, Vaghi M (Eds), Springer-Verlag Italia 2015. Copyright © Springer Nature. https://link.springer.com/book/10.1007/978-88-470-5673-2.
