MCID: PTS001
MIFTS: 50

Patau Syndrome malady

Genetic diseases, Eye diseases, Nephrological diseases, Fetal diseases categories

Summaries for Patau Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Trisomy 13, also called patau syndrome, is a genetic disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. in some affected individuals, only a percentage of cells may contain the extra 13th chromosome (mosaicism), whereas other cells contain the normal chromosomal pair. the extra material interferes with normal development, leading to severe intellectual disability and physical abnormalities in many parts of the body. most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. 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 about 5-10 percent of children with this condition live past their first year. last updated: 1/9/2012

MalaCards: Patau Syndrome, also known as trisomy 13, is related to edwards syndrome and holoprosencephaly, and has symptoms including kyphosis, anomalies of spine, vertebrae and pelvis and anomalies of the ribs. An important gene associated with Patau Syndrome is ASMTL (acetylserotonin O-methyltransferase-like). The compound oestriol have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and brain.

Genetics Home Reference:21 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:63 Patau syndrome /ˈpætaʊ/ is a syndrome caused by a chromosomal abnormality, in which some or all of... more...

Aliases & Classifications for Patau Syndrome

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 60UMLS, 56SNOMED-CT, 27ICD9CM, 39NCIt, 34MeSH, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
patau syndrome:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

patau syndrome 8 63 42 21 10 48 60
trisomy 13 8 42 21 48
complete trisomy 13 syndrome 42 22 21
chromosome 13, trisomy 13 complete 42
chromosome 13 duplication 60
bartholin-patau syndrome 21
trisomy 13 syndrome 21
d trisomy syndrome 42
patau's syndrome 21
d1 trisomy 8


External Ids:

Disease Ontology8 DOID:11665
ICD9CM27 758.1
NCIt39 C36529
MeSH34 C536305
SNOMED-CT via Orphanet57 21111006
ICD10 via Orphanet26 Q91.4, Q91.5, Q91.6 Q91.7, more
UMLS via Orphanet61 C2936830
ICD1025 Q91.7

Related Diseases for Patau Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Patau Syndrome:



Diseases related to patau syndrome

Clinical Features for Patau Syndrome

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48Orphanet
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Symptoms:

48 (show all 58)
  • kyphosis
  • anomalies of spine, vertebrae and pelvis
  • anomalies of the ribs
  • narrow rib cage/thorax
  • sensorineural deafness/hearing loss
  • preauricular/branchial tags/appendages
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • antihelix anomaly
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • anomalies of teeth and dentition
  • scoliosis
  • herniae
  • arnold-chiari anomaly
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypospadias/epispadias/bent penis
  • uterine/uterus/fallopian tubes anomalies
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • polycystic kidneys
  • absent lobe/lung/segmentation defect/abnormal lobulation/sequestration
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • oligodactyly/ectrodactyly of fingers
  • abnormal dermatoglyphics
  • high vaulted/narrow palate
  • long philtrum
  • patent ductus arteriosus
  • ventricular septal defect/interventricular communication
  • atrial septal defect/interauricular communication
  • congenital cardiac anomaly/malformation/cardiopathy
  • postaxial polydactyly (hand)
  • simian crease/transverse/unique palmar crease
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • cystic hygroma
  • low set ears/posteriorly rotated ears
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • median cleft lip
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • depressed premaxillary region/midface
  • hypotelorism
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • absent/decreased lashes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • retinal vascular anomalies/retinal telangiectasia
  • cataract/lens opacification
  • coloboma of iris
  • aniridia/iris hypoplasia
  • anomalies of eyes and vision
  • deepset eyes/enophthalmos
  • scalp/skull defect
  • hydrops fetalis
  • intrauterine growth retardation
  • stillbirth/neonatal death
  • total/partial trisomy/duplication
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • large fontanelle/delayed fontanelle closure

Drugs & Therapeutics for Patau Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Patau Syndrome

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22GTR
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Genetic tests related to Patau Syndrome:

id Genetic test Affiliating Genes
1 Complete Trisomy 13 Syndrome22

Anatomical Context for Patau Syndrome

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32MalaCards
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MalaCards organs/tissues related to Patau Syndrome:

32
Eye, Heart, Brain, Spinal cord, Testes, Kidney, Lung, Uterus

Animal Models for Patau Syndrome or affiliated genes

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Publications for Patau Syndrome

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50PubMed
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Articles related to Patau Syndrome:

(show all 30)
idTitleAuthorsYear
1
Trisomy 13 (Patau syndrome) and congenital heart defects. (24214527)
2014
2
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. (23613355)
2013
3
Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. (23949924)
2013
4
Phenotypic variability in Patau syndrome. (24340511)
2013
5
First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free I^-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome. (24381414)
2013
6
Longevity and Patau syndrome: what determines survival? (23220825)
2012
7
Trisomy 13 (Patau syndrome) and craniosynostosis. (21739580)
2011
8
Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. (21977150)
2010
9
Extensive comedonal and cystic acne in Patau syndrome. (20537076)
2010
10
Primary congenital glaucoma associated with Patau syndrome with long survival. (21080618)
2010
11
Patau syndrome with long survival in a case of unusual mosaic trisomy 13. (18495567)
2008
12
Dorsal dimelia in patau syndrome: a case report. (17950216)
2007
13
Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. (17603803)
2007
14
Patau syndrome. (17431076)
2007
15
Patau syndrome with a long survival (146 months): a clinical report and review of literature. (16333832)
2006
16
Patau syndrome and perinatal decision making. (23249587)
2005
17
Patau syndrome with a long survival. A case report. (15266400)
2004
18
Long-term survival in Patau syndrome. (11310997)
2001
19
Trisomy 13 (Patau syndrome). (11042720)
2000
20
Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)]. (9047985)
1996
21
A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited. (8818949)
1996
22
Trisomy 13 (Patau syndrome) with an 11-year survival. (8462196)
1993
23
Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome). (2348978)
1990
24
Trisomy 13 (Patau) syndrome in Delaware. (4076474)
1985
25
Parental age and unbalanced Robertsonian translocations associated with Down syndrome and Patau syndrome: comparison with maternal and paternal age effects for 47, +21 and 47, +13. (6238567)
1984
26
Origin of extra chromosome in Patau syndrome. (6500580)
1984
27
Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome. (7224090)
1980
28
Rates of 47, + 13 amd 46 translocation D/13 Patau syndrome in live births and comparison with rates in fetal deaths and at amniocentesis. (7446526)
1980
29
Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13). (6965845)
1980
30
Clinical and cytogenetic variations of Patau syndrome (demonstration of ten patients). (1214146)
1975

Genetic Variations for Patau Syndrome

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Expression for genes affiliated with Patau Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Patau Syndrome

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Pathways for genes affiliated with Patau Syndrome

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Compounds for genes affiliated with Patau Syndrome

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44Novoseek
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Compounds related to Patau Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oestriol449.7PAPPA, AFP

GO Terms for genes affiliated with Patau Syndrome

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Products for genes affiliated with Patau Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Patau Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet