Alt. symbols: TGFB | DPD1 | CED | TGFbeta

Approved name: transforming growth factor beta 1
Alt. names: transforming growth factor, beta 1 | Camurati-Engelmann disease, prepro-transforming growth factor beta-1, Diaphyseal dysplasia 1, progressive

Location: 19q13.2: 41301587 - 41353922 (-)
Gene type: protein_coding, 5 transcripts.

Scores: LoFtool: 0.219000 | pLI: 0.35413253 | LOEUF: 0.614

HGNC: 11766

NCBI: 7040, RefSeq: NG_013364.1

Ensembl: ENSG00000105329.11

LRG_ | Status: none

OMIM: 190180

Expression | ProteinAtlas

Inflammatory bowel disease, immunodeficiency, and encephalopathy [MIM:618213] | {Cystic fibrosis lung disease, modifier of} [MIM:219700] | Camurati-Engelmann disease [MIM:131300]. Monoallelic mutations in TGFB1 cause Camurati-Engelmann disease. This is a rare autosomal dominant type of bone dysplasia. The hallmark of the disorder is the cortical thickening of the diaphyses of the long bones. Hyperostosis is bilateral and symmetrical and usually starts at the diaphyses of the femora and tibiae, e xpanding to the fibulae, humeri, ulnae, and radii. As the disease progresses, the metaphyses may be affected as well, but the epiphyses are spared. Sclerotic changes at the skull base may be present. The onset of the disease is usually during childhood and almost always before the age of 30. Most patients present with limb pain, muscular weakness, a waddling gait, and easy fatigability. Systemic manifestations such as anemia, leukopenia, and hepatosplenomegaly occur occasionally. The variant in TGFB1 identified in your patient has not been characterized, neither associated to disease as of today; therefore its relevance is uncertain. [Load More]