MCID: PTS001
MIFTS: 53

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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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 based summary: Patau Syndrome, also known as complete trisomy 13 syndrome, is related to holoprosencephaly and edwards syndrome, and has symptoms including large fontanelle/delayed fontanelle closure, hypotelorism and depressed premaxillary region/midface. 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, 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:65 Patau syndrome /?p more...

Aliases & Classifications for Patau Syndrome

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Sources:
8Disease Ontology, 65Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 62UMLS, 22GTR, 57SNOMED-CT, 27ICD9CM, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Patau Syndrome, Aliases & Descriptions:

Name: Patau Syndrome 8 65 42 21 10 48 62
Complete Trisomy 13 Syndrome 42 22 21 62
Trisomy 13 8 42 21 48
Bartholin-Patau Syndrome 21 62
Trisomy 13 Syndrome 21 62
 
Chromosome 13, Trisomy 13 Complete 42
Chromosome 13 Duplication 62
D Trisomy Syndrome 42
Patau's Syndrome 21
D1 Trisomy 8


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


External Ids:

Disease Ontology8 DOID:11665
ICD9CM27 758.1
MeSH34 C536305
NCIt39 C36529
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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Graphical network of the top 20 diseases related to Patau Syndrome:



Diseases related to patau syndrome

Symptoms for Patau Syndrome

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Symptoms:

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

HPO human phenotypes related to Patau Syndrome:

(show all 47)
id Description Frequency HPO Source Accession
1 median cleft lip hallmark (90%) HP:0000161
2 cleft palate hallmark (90%) HP:0000175
3 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
4 malar flattening hallmark (90%) HP:0000272
5 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
6 cystic hygroma hallmark (90%) HP:0000476
7 hypotelorism hallmark (90%) HP:0000601
8 single transverse palmar crease hallmark (90%) HP:0000954
9 postaxial hand polydactyly hallmark (90%) HP:0001162
10 seizures hallmark (90%) HP:0001250
11 muscular hypotonia hallmark (90%) HP:0001252
12 intrauterine growth retardation hallmark (90%) HP:0001511
13 ventricular septal defect hallmark (90%) HP:0001629
14 defect in the atrial septum hallmark (90%) HP:0001631
15 patent ductus arteriosus hallmark (90%) HP:0001643
16 hydrops fetalis hallmark (90%) HP:0001789
17 neurological speech impairment hallmark (90%) HP:0002167
18 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
19 abnormality of chromosome segregation hallmark (90%) HP:0002916
20 cognitive impairment hallmark (90%) HP:0100543
21 abnormality of female internal genitalia typical (50%) HP:0000008
22 cryptorchidism typical (50%) HP:0000028
23 abnormality of the ureter typical (50%) HP:0000069
24 polycystic kidney dysplasia typical (50%) HP:0000113
25 abnormality of the teeth typical (50%) HP:0000164
26 long philtrum typical (50%) HP:0000343
27 preauricular skin tag typical (50%) HP:0000384
28 sensorineural hearing impairment typical (50%) HP:0000407
29 deeply set eye typical (50%) HP:0000490
30 abnormality of the eyelashes typical (50%) HP:0000499
31 cataract typical (50%) HP:0000518
32 iris coloboma typical (50%) HP:0000612
33 optic atrophy typical (50%) HP:0000648
34 abnormality of the ribs typical (50%) HP:0000772
35 narrow chest typical (50%) HP:0000774
36 split hand typical (50%) HP:0001171
37 skull defect typical (50%) HP:0001362
38 abnormal lung lobation typical (50%) HP:0002101
39 arnold-chiari malformation typical (50%) HP:0002308
40 scoliosis typical (50%) HP:0002650
41 kyphosis typical (50%) HP:0002808
42 abnormality of the retinal vasculature typical (50%) HP:0008046
43 aplasia/hypoplasia of the iris typical (50%) HP:0008053
44 abnormality of the antihelix typical (50%) HP:0009738
45 abnormality of the helix typical (50%) HP:0011039
46 displacement of the external urethral meatus typical (50%) HP:0100627
47 hernia typical (50%) HP:0100790

Drugs & Therapeutics for Patau Syndrome

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Drug clinical trials:

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Genetic Tests for Patau Syndrome

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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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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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Articles related to Patau Syndrome:

(show all 33)
idTitleAuthorsYear
1
An interesting coexistence of Patau syndrome; Spigelian hernia and undescended testes. (25059026)
2014
2
Trisomy 13 (Patau syndrome) with tetralogy of Fallot--to treat or not to treat? (24461962)
2014
3
Trisomy 13 (Patau syndrome) and congenital heart defects. (24214527)
2014
4
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. (23613355)
2013
5
Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. (23949924)
2013
6
Gestational, perinatal and family findings of patients with Patau syndrome. (24473950)
2013
7
Phenotypic variability in Patau syndrome. (24340511)
2013
8
First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free I^-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome. (24381414)
2013
9
Longevity and Patau syndrome: what determines survival? (23220825)
2012
10
Trisomy 13 (Patau syndrome) and craniosynostosis. (21739580)
2011
11
Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. (21977150)
2010
12
Extensive comedonal and cystic acne in Patau syndrome. (20537076)
2010
13
Primary congenital glaucoma associated with Patau syndrome with long survival. (21080618)
2010
14
Patau syndrome with long survival in a case of unusual mosaic trisomy 13. (18495567)
2008
15
Dorsal dimelia in patau syndrome: a case report. (17950216)
2007
16
Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. (17603803)
2007
17
Patau syndrome. (17431076)
2007
18
Patau syndrome with a long survival (146 months): a clinical report and review of literature. (16333832)
2006
19
Patau syndrome and perinatal decision making. (23249587)
2005
20
Patau syndrome with a long survival. A case report. (15266400)
2004
21
Long-term survival in Patau syndrome. (11310997)
2001
22
Trisomy 13 (Patau syndrome). (11042720)
2000
23
Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)]. (9047985)
1996
24
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
25
Trisomy 13 (Patau syndrome) with an 11-year survival. (8462196)
1993
26
Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome). (2348978)
1990
27
Trisomy 13 (Patau) syndrome in Delaware. (4076474)
1985
28
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
29
Origin of extra chromosome in Patau syndrome. (6500580)
1984
30
Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome. (7224090)
1980
31
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
32
Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13). (6965845)
1980
33
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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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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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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Sources:
44Novoseek, 24HMDB, 2BitterDB, 50PharmGKB, 11DrugBank
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Compounds related to Patau Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1uric acid44 2410.5AFP, XDH
2oestriol449.5PAPPA, AFP
3azathioprine44 2 50 1112.5AFP, XDH
4carboplatin44 50 1111.4XDH, AFP
5mitomycin c449.2AFP, 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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet