MCID: PTS001
MIFTS: 45

Patau Syndrome malady

Genetic, Eye, Nephrological, Fetal categories

Summaries for Patau Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 holoprosencephaly and edwards syndrome, and has symptoms including low set ears/posteriorly rotated ears, scoliosis and seizures/epilepsy/absences/spasms/status epilepticus. 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 spinal cord, brain and heart.

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:64 Patau syndrome /ˈpætaʊ/ is a syndrome caused by a chromosomal abnormality, in which some or all of... more...

Aliases & Classifications for Patau Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 49Orphanet, 61UMLS, 22GTR, 57SNOMED-CT, 27ICD9CM, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic, Fetal
Anatomical: Eye, Nephrological


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 64 43 21 10 49 61
trisomy 13 8 43 21 49
complete trisomy 13 syndrome 43 22 21
chromosome 13, trisomy 13 complete 43
chromosome 13 duplication 61
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
ICD9CM27 758.1
NCIt40 C36529
MeSH35 C536305
ICD10 via Orphanet26 Q91.4, Q91.5, Q91.6 Q91.7, more
UMLS via Orphanet62 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

Sources:
49Orphanet
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Symptoms:

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

Drugs & Therapeutics for Patau Syndrome

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Patau Syndrome:

33
Spinal cord, Brain, Heart, T cells

Animal Models for Patau Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Patau Syndrome

Sources:
51PubMed
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Articles related to Patau Syndrome:

(show all 31)
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
Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid. (8309903)
1993
23
Trisomy 13 (Patau syndrome) with an 11-year survival. (8462196)
1993
24
Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome). (2348978)
1990
25
Trisomy 13 (Patau) syndrome in Delaware. (4076474)
1985
26
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
27
Origin of extra chromosome in Patau syndrome. (6500580)
1984
28
Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome. (7224090)
1980
29
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
30
Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13). (6965845)
1980
31
Clinical and cytogenetic variations of Patau syndrome (demonstration of ten patients). (1214146)
1975

Genetic Variations for Patau Syndrome

Expression for genes affiliated with Patau Syndrome

Sources:
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

Compounds for genes affiliated with Patau Syndrome

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45Novoseek
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Compounds related to Patau Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oestriol459.7PAPPA, AFP

GO Terms for genes affiliated with Patau Syndrome

Products for genes affiliated with Patau Syndrome

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  • Proteins
  • Lysates
  • Antibodies

Sources for Patau Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet