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
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Rubinstein-Taybi Syndrome:
Orphanet epidemiological data:53
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: 30 29
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
OMIM:51 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 embryo.
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:25 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:47 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:69 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:70 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is... more...
GeneReviews for NBK1526
Human phenotypes related to Rubinstein-Taybi Syndrome:63 53 (show all 145)
UMLS symptoms related to Rubinstein-Taybi Syndrome:constipation, seizures
Drugs for Rubinstein-Taybi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:
Search NIH Clinical Center for Rubinstein-Taybi Syndrome
MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:35
Eye, Heart, Kidney, Brain, Bone, Uterus, Skin
Articles related to Rubinstein-Taybi Syndrome:(show top 50) (show all 337)
UniProtKB/Swiss-Prot genetic disease variations for Rubinstein-Taybi Syndrome:69 (show all 17)
Clinvar genetic disease variations for Rubinstein-Taybi Syndrome:5 (show all 77)
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 16)
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 28)
Molecular functions related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:(show all 17)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet