<unk>  has an autosomal dominant pattern of inheritance.<unk>  is a genetic disorder with an autosomal dominant inheritance pattern. Those with<unk>  symptoms that have no relatives with the disease may have a new mutation. Homozygosity appears to be fatal in utero. Five genetic types of<unk>  are recognized. Of these, three have been linked to particular genes, while the two remaining have currently only been associated with a particular locus. More than 80% of all cases of<unk>  are due to mutations in either ENG or ACVRL1. A total of over 600 different mutations are known. There is likely to be a predominance of either type in particular populations, but the data are conflicting. MADH4 mutations, which cause colonic polyposis in addition to<unk> , comprise about 2% of disease-causing mutations. Apart from MADH4, it is not clear whether mutations in ENG and ACVRL1 lead to particular symptoms, although some reports suggest that ENG mutations are more likely to cause lung problems while ACVRL1 mutations may cause more liver problems, and pulmonary hypertension may be a particular problem in people with ACVRL1 mutations. People with exactly the same mutations may have different nature and severity of symptoms, suggesting that additional genes or other risk factors may determine the rate at which lesions develop; these have not yet been identified. Name OMIM Gene Locus Description<unk> 1 ENG 9 q34.1 ENG codes for endoglin, a receptor of TGF-β1 (transforming growth factor beta 1) and TGF-β3; the genetic linkage was identified in 1994. A high proportion of frameshift mutations has been observed. Practically all mutations occur in the extracellular part of the protein (the part that sits on the surface of the cell).<unk> 2 ACVRL1 12 q11-q14 ACVRL1 codes for Alk-1 (ACVR1, activin receptor-like kinase 1), a TGF-β1 receptor; genetic linkage was identified in 1996.<unk> 3 Unknown 5 q31 Function unknown, linkage identified in 2005.<unk> 4 Unknown 7 p14. Function unknown, linkage identified in 2006. JPHT MADH4 18 q21.1 MADH4 codes for SMAD4, an intracellular signalling protein for the TGF superfamily receptors. Mutations in this gene cause<unk>  and juvenile polyposis. Linkage was identified in 2004. Mutations mostly in exons 8–11, often de novo (newly acquired, not inherited).
Hereditary hemorrhagic telangiectasia
Pedophilia
Patau syndrome
Ehlers–Danlos syndromes
Haemophilia
Bernard–Soulier syndrome
Ogden syndrome
Panayiotopoulos syndrome