RGD Reference Report - Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. - Rat Genome Database

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Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

Authors: McAllister, KA  Grogg, KM  Johnson, DW  Gallione, CJ  Baldwin, MA  Jackson, CE  Helmbold, EA  Markel, DS  McKinnon, WC  Murrell, J 
Citation: McAllister KA, etal., Nat Genet. 1994 Dec;8(4):345-51.
RGD ID: 1601038
Pubmed: PMID:7894484   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1294-345   (Journal Full-text)

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent haemorrhage. Linkage for some families has been established to chromosome 9q33-q34. In the present study, endoglin, a transforming growth factor beta (TGF-beta) binding protein, was analysed as a candidate gene for the disorder based on chromosomal location, expression pattern and function. We have identified mutations in three affected individuals: a C to G substitution converting a tyrosine to a termination codon, a 39 base pair deletion and a 2 basepair deletion which creates a premature termination codon. We have identified endoglin as the HHT gene mapping to 9q3 and have established HHT as the first human disease defined by a mutation in a member of the TGF-beta receptor complex.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hereditary hemorrhagic telangiectasia  IAGP 1601038HHT1 more ...RGD 
hereditary hemorrhagic telangiectasia  ISOENG (Homo sapiens)1601038HHT1 more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Eng  (endoglin)

Genes (Homo sapiens)
ENG  (endoglin)


Additional Information