Rubinstein-Taybi Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Mental diseases, Smell/Taste diseases
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 68UniProtKB/Swiss-Prot, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Rubinstein-Taybi Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Mental diseases, Smell/Taste diseases
ICD10: 29 28
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
OMIM:50 Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal... (180849) more...
MalaCards based summary: Rubinstein-Taybi Syndrome, also known as broad thumb-hallux syndrome, is related to rubinstein-taybi syndrome 2 and ep300-related rubinstein-taybi syndrome, and has symptoms including abnormality of the palate, hypertelorism and convex nasal ridge. An important gene associated with Rubinstein-Taybi Syndrome is CREBBP (CREB Binding Protein), and among its related pathways are CD209 (DC-SIGN) signaling and Transcription_CREM signaling in testis. Affiliated tissues include eye, heart and kidney, and related mouse phenotypes are respiratory system and craniofacial.
Disease Ontology:11 An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.
Genetics Home Reference:24 Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome.
NIH Rare Diseases:46 Rubinstein-taybi syndrome is a condition characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. the condition may be caused by a mutation in the crebbp or ep300 gene, or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. in some affected people, the cause is unknown. while rubinstein-taybi syndrome can be inherited in an autosomal dominant manner, most cases result from a new (de novo) mutation in the responsible gene and are not inherited from a parent. treatment is symptomatic and supportive. last updated: 1/14/2016
UniProtKB/Swiss-Prot:68 Rubinstein-Taybi syndrome 1: A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies.
Wikipedia:69 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is... more...
GeneReviews summary for NBK1526
Symptoms by clinical synopsis from OMIM:180849
Clinical features from OMIM:180849
Symptoms:52 (show all 45)
HPO human phenotypes related to Rubinstein-Taybi Syndrome:(show all 152)
UMLS symptoms related to Rubinstein-Taybi Syndrome:constipation, seizures
Drugs for Rubinstein-Taybi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Rubinstein-Taybi Syndrome
MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:34
Eye, Heart, Kidney, Brain, Bone, Uterus, Skin
MGI Mouse Phenotypes related to Rubinstein-Taybi Syndrome:39
Articles related to Rubinstein-Taybi Syndrome:(show top 50) (show all 334)
UniProtKB/Swiss-Prot genetic disease variations for Rubinstein-Taybi Syndrome:68 (show all 17)
Clinvar genetic disease variations for Rubinstein-Taybi Syndrome:5 (show all 76)
Copy number variations for Rubinstein-Taybi Syndrome from CNVD:6 (show all 14)
Search GEO for disease gene expression data for Rubinstein-Taybi Syndrome.
Pathways related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:(show all 17)
Cellular components related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:(show all 29)
Molecular functions related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:(show all 17)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet