Bardet-Biedl Syndrome

This condition has since become known as the Bardet-Biedl syndrome.

Bardet-Biedl syndrome tends to have later onset in its symptoms.

Mutations in this gene are associated with the Bardet-Biedl syndrome.

This syndrome is now called the Bardet-Biedl syndrome after the two men.

Most cases of Bardet-Biedl syndrome are inherited as an autosomal recessive trait.

Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 4.

One such example is Bardet-Biedl syndrome.

Alstrom syndrome is sometimes confused with Bardet-Biedl syndrome, which has similar symptoms.

Bardet-Biedl syndrome shows significant overlap with a disorder called Laurence-Moon syndrome.

The Bardet-Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems.

Bardet-Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families.

Mutations in the TTC8 gene leads to Bardet-Biedl syndrome.

The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II chaperonins.

Bardet-Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.

Today this disease has been shortened to become the Laurence-Moon syndrome, while the Bardet-Biedl syndrome is recognized as a separate entity.

However, recent research has demonstrated that some individuals with the clinical findings of Laurence-Moon syndrome have had mutations in genes linked to Bardet-Biedl syndrome.

These "ciliopathies" include polycystic kidney disease (PKD), retinitis pigmentosa, Bardet-Biedl syndrome and other developmental defects.

In another genetic disorder called Bardet-Biedl syndrome (BBS), the mutant gene products are the components in the basal body and cilia.

Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, and some forms of retinal degeneration.

Genetic reasons can relate to Prader-Willi syndrome, Bardet-Biedl syndrome, Alström syndrome, Cohen syndrome, Carpenter syndrome.

Bardet-Biedl Syndrome Association francaise (France-based; in French language) Syndrome de Bardet-Biedl (BBS)

Obesity is a major feature in several syndromes, such as Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, and MOMO syndrome.

The expression of the Bardet-Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones.

Some research has shown that mutations in ciliary proteins can lead to other developmental and adult phenotypes such as nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome.

Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly and obesity, which are the key elements of the Bardet-Biedl syndrome.