Patau Syndrome malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Fetal diseases
Aliases & Descriptions for Patau Syndrome:
Orphanet epidemiological data:51
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (Germany),1-9/100000 (Ireland),1-5/10000 (Malta),1-9/100000 (Norway),1-9/100000 (Poland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine),1-5/10000 (United States),1-9/100000 (France),1-9/100000 (Austria),1-9/100000 (Hungary),1-9/100000 (Italy),1-5/10000 (Netherlands),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland); Age of onset: Antenatal,Neonatal; Age of death: early childhood
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Nephrological diseases
ICD10: 28 27
NIH Rare Diseases:45 Trisomy 13 is a type of chromosome disorder characterized by having 3 copies of chromosome 13 in cells of the body, instead of the usual 2 copies. in some affected people, only a portion of cells contains the extra chromosome 13 (called mosaic trisomy 13), whereas other cells contain the normal chromosome pair. trisomy 13 causes severe intellectual disability and many physical abnormalities, such as congenital heart defects; brain or spinal cord abnormalities; very small or poorly developed eyes (microphthalmia); extra fingers or toes; cleft lip with or without cleft palate; and weak muscle tone (hypotonia). most cases are not inherited and result from a random error during the formation of eggs or sperm in healthy parents. due to various life-threatening medical problems, many infants with trisomy 13 do not survive past the first days or weeks of life. last updated: 3/17/2016
MalaCards based summary: Patau Syndrome, also known as trisomy 13, is related to pseudotrisomy 13 syndrome and holoprosencephaly-postaxial polydactyly syndrome, and has symptoms including median cleft lip, cleft palate and abnormality of the fontanelles or cranial sutures. An important gene associated with Patau Syndrome is NODAL (Nodal Growth Differentiation Factor). Affiliated tissues include eye, heart and brain, and related mouse phenotypes are digestive/alimentary and embryo.
Genetics Home Reference:23 Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.
Wikipedia:68 Patau syndrome /ˈpætaʊ/ is a syndrome caused by a chromosomal abnormality, in which some or all of... more...
Symptoms:51 (show all 58)
HPO human phenotypes related to Patau Syndrome:(show all 48)
Drugs for Patau Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 13)
Interventional clinical trials:(show all 22)
Search NIH Clinical Center for Patau Syndrome
MalaCards organs/tissues related to Patau Syndrome:33
Eye, Heart, Brain, Spinal cord, Testes, Lung, Kidney
Articles related to Patau Syndrome:(show all 38)
Search GEO for disease gene expression data for Patau Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet