MCID: PTS001
MIFTS: 52

Patau Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Fetal diseases categories
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Summaries for Patau Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 hypospadias/epispadias/bent penis, ventricular septal defect/interventricular communication and simian crease/transverse/unique palmar crease. An important gene associated with Patau Syndrome is ASMTL (acetylserotonin O-methyltransferase-like), and among its related pathways is Transcription factors in neurogenesis. The compounds uric acid and oestriol have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and kidney.

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:65 Patau syndrome /?p more...

Aliases & Classifications for Patau Syndrome

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8Disease Ontology, 65Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 49Orphanet, 62UMLS, 22GTR, 35MeSH, 58SNOMED-CT, 27ICD9CM, 40NCIt, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
patau syndrome:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

patau syndrome 8 65 43 21 10 49 62
trisomy 13 8 43 21 49
complete trisomy 13 syndrome 43 22 21
chromosome 13, trisomy 13 complete 43
chromosome 13 duplication 62
bartholin-patau syndrome 21
trisomy 13 syndrome 21
d trisomy syndrome 43
patau's syndrome 21
d1 trisomy 8


External Ids:

Disease Ontology8 DOID:11665
MeSH35 C536305
ICD9CM27 758.1
NCIt40 C36529
SNOMED-CT via Orphanet59 21111006
ICD10 via Orphanet26 Q91.4, Q91.5, Q91.6 Q91.7, more
UMLS via Orphanet63 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

Symptoms for Patau Syndrome

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49Orphanet
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Symptoms:

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

Drugs & Therapeutics for Patau Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Patau Syndrome

Search NIH Clinical Center for Patau Syndrome

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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33MalaCards
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MalaCards organs/tissues related to Patau Syndrome:

33
Eye, Testes, Kidney, Uterus, Lung, Heart

Animal Models for Patau Syndrome or affiliated genes

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Publications for Patau Syndrome

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52PubMed
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Articles related to Patau Syndrome:

(show all 29)
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
Patau syndrome. (17431076)
2007
14
Patau syndrome with a long survival (146 months): a clinical report and review of literature. (16333832)
2006
15
Patau syndrome and perinatal decision making. (23249587)
2005
16
Patau syndrome with a long survival. A case report. (15266400)
2004
17
Long-term survival in Patau syndrome. (11310997)
2001
18
Trisomy 13 (Patau syndrome). (11042720)
2000
19
Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)]. (9047985)
1996
20
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
21
Trisomy 13 (Patau syndrome) with an 11-year survival. (8462196)
1993
22
Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome). (2348978)
1990
23
Trisomy 13 (Patau) syndrome in Delaware. (4076474)
1985
24
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
25
Origin of extra chromosome in Patau syndrome. (6500580)
1984
26
Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome. (7224090)
1980
27
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
28
Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13). (6965845)
1980
29
Clinical and cytogenetic variations of Patau syndrome (demonstration of ten patients). (1214146)
1975

Variations for Patau Syndrome

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Expression for genes affiliated with Patau Syndrome

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2BioGPS, 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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50PathCards, 12EMD Millipore
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Pathways related to Patau Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SIX3, ZIC2

Compounds for genes affiliated with Patau Syndrome

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45Novoseek, 24HMDB, 3BitterDB, 51PharmGKB, 11DrugBank
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Compounds related to Patau Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1uric acid45 2410.5AFP, XDH
2oestriol459.5PAPPA, AFP
3azathioprine45 3 51 1112.5AFP, XDH
4carboplatin45 51 1111.4XDH, AFP
5mitomycin c459.2AFP, XDH

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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet