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Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic ...
Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene. [ 4 ] [ 5 ] 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.
XLP syndrome X-linked lymphoproliferative syndrome (see Duncan Disease) XLSA X-linked sideroblastic anemia: XMEA X-linked myopathy with excessive autophagy: XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XP Xeroderma pigmentosa: XSCID X-linked severe combined immunodeficiency: XXX syndrome ...
71769 Ensembl ENSG00000179941 ENSMUSG00000035759 UniProt Q8TAM1 Q9DBI2 RefSeq (mRNA) NM_024685 NM_027914 RefSeq (protein) NP_078961 NP_082190 Location (UCSC) Chr 12: 76.34 – 76.35 Mb Chr 10: 111.13 – 111.14 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Bardet–Biedl syndrome 10, also known as BBS10 is a human gene. Function The Bardet-Biedl syndrome 10 protein has distant ...
Bannayan–Zonana syndrome; Bardet–Biedl syndrome; Barth syndrome; Basal-cell nevus syndrome; ... List of ICD-9 codes 740–759: congenital anomalies; Rare disease
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene. [5] [6] This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 2. Bardet–Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy ...
Bardet–Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene. [5] [6] [7] This gene encodes a protein that has been directly linked to Bardet–Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning
Bardet-Biedl Syndrome is an autosomal recessive disorder that occurs in about 1 in every 100,000 live births and is due to homozygous mutations in any of the BBS genes other than BBIP1. [4] [2] [1] These mutations often lead to the incorrect formation of the BBSome which then has subsequent effects on cargo trafficking and IFT regulation. [6]