Bardet-Biedl Syndrome (BBS)

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Disease Ontology 12 DOID:1935 KEGG 36 H00418 MeSH 43 D020788 NCIt 49 C118632 SNOMED-CT 67 5619004 ICD10 32 Q87.89

MESH via Orphanet 44 D020788 ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 72 C0752166 Orphanet 58 ORPHA110 SNOMED-CT via HPO 68 103276001 15188001 204878001 204962002 205131007 228156007 237836003 24184005 246800008 247578003 249769001 268251006 274524001 28835009 34048007 343087000 34911001 38341003 414915002 414916001 48130008 52254009 563001 62484002 74035001 82525005 91138005 93279005 95427009 95828007 more UMLS 71 C0752166

Genetics Home Reference : ²⁵ Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia). Other major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually unable to father biological children (infertile). Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening. Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers or toes, and a partial or complete loss of the sense of smell (anosmia) have also been reported in some people with Bardet-Biedl syndrome. Additionally, this condition can affect the heart, liver, and digestive system.

MalaCards based summary : Bardet-Biedl Syndrome, also known as bbs, is related to bardet-biedl syndrome 14 and bardet-biedl syndrome 3. An important gene associated with Bardet-Biedl Syndrome is BBS1 (Bardet-Biedl Syndrome 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Hormone Antagonists and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are obesity and intellectual disability

Disease Ontology : ¹² An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.

NIH Rare Diseases : ⁵² Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy ; extra fingers or toes (polydactyly ); truncal obesity; decreased function of the male gonads (hypogonadism ); kidney abnormalities; and learning difficulties. Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is usually autosomal recessive . Treatment depends on the symptoms present in each person.

KEGG : ³⁶ Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism, polydactyly, renal dysfunction, and mental retardation. BBS is typified by clinical variability observed both within and between families, which can be explained in part by the presence of second-site modifiers. Recent findings in genetic research have suggested that the BBS phenotype is largely associated with ciliary dysfunction.

Wikipedia : ⁷⁴ Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

GeneReviews: NBK1363

Search NIH Clinical Center for Bardet-Biedl Syndrome

Search GEO for disease gene expression data for Bardet-Biedl Syndrome.