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RTS
MCID: CHR593
MIFTS: 64
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Chromosome 16p13.3 Deletion Syndrome, Proximal (RTS)
Categories:
Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Chromosome 16p13.3 Deletion Syndrome, Proximal:
Characteristics:Orphanet epidemiological data:59
rubinstein-taybi syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age; HPO:32
chromosome 16p13.3 deletion syndrome, proximal:
Mortality/Aging death in infancy Inheritance somatic mosaicism autosomal dominant contiguous gene syndrome Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Bone diseases Endocrine diseases Mental diseases
ICD10:
33
34
Orphanet: 59
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
External Ids:
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NIH Rare Diseases
:
53
Chromosome 16p13.3 deletionsyndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.
To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.
MalaCards based summary : Chromosome 16p13.3 Deletion Syndrome, Proximal, also known as rubinstein-taybi syndrome, is related to floating-harbor syndrome and rubinstein-taybi syndrome 1, and has symptoms including seizures and constipation. An important gene associated with Chromosome 16p13.3 Deletion Syndrome, Proximal is DEL16P13.3 (Chromosome 16p13.3 Deletion Syndrome), and among its related pathways/superpathways are Phospholipase-C Pathway and Cushing syndrome. Affiliated tissues include heart, kidney and testes, and related phenotypes are high palate and intellectual disability Wikipedia : 76 Rubinstein�??Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is... more...
Description from OMIM:
610543
GeneReviews:
NBK1526
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Human phenotypes related to Chromosome 16p13.3 Deletion Syndrome, Proximal:59 32 (show top 50) (show all 63)
UMLS symptoms related to Chromosome 16p13.3 Deletion Syndrome, Proximal:seizures, constipation GenomeRNAi Phenotypes related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Chromosome 16p13.3 Deletion Syndrome, Proximal:46
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Cochrane evidence based reviews: rubinstein-taybi syndrome |
MalaCards organs/tissues related to Chromosome 16p13.3 Deletion Syndrome, Proximal:41
Heart,
Kidney,
Testes,
Bone,
Thyroid,
B Cells,
Eye
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Articles related to Chromosome 16p13.3 Deletion Syndrome, Proximal:(show top 50) (show all 361)
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Genes related to Chromosome 16p13.3 Deletion Syndrome, Proximal (3 elite genes):(show all 15) - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Chromosome 16p13.3 Deletion Syndrome, Proximal.
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Pathways related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:(show all 20)
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Cellular components related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:
Biological processes related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:
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