MCID: PTS001
MIFTS: 50

Patau Syndrome

Categories: Rare diseases, Genetic diseases, Eye diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Patau Syndrome

MalaCards integrated aliases for Patau Syndrome:

Name: Patau Syndrome 12 72 50 25 56 14 69
Trisomy 13 12 50 25 56
Complete Trisomy 13 Syndrome 50 25 29
Trisomy 13 Syndrome 25 42
Patau's Syndrome 12 25
Chromosome 13, Trisomy 13 Complete 50
Chromosome 13 Duplication 69
Bartholin-Patau Syndrome 25
D1 Trisomy 12

Characteristics:

Orphanet epidemiological data:

56
trisomy 13
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;

Classifications:



Summaries for Patau Syndrome

NIH Rare Diseases : 50 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 mosaic trisomy 13, and has symptoms including scoliosis, optic atrophy and intellectual disability, severe. An important gene associated with Patau Syndrome is NODAL (Nodal Growth Differentiation Factor). The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include eye, heart and brain, and related phenotypes are craniofacial and digestive/alimentary

Genetics Home Reference : 25 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 : 72 Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of... more...

Related Diseases for Patau Syndrome

Diseases related to Patau Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
id Related Disease Score Top Affiliating Genes
1 pseudotrisomy 13 syndrome 11.0
2 mosaic trisomy 13 10.5
3 visual cortex disease 10.5 AFP NODAL
4 gingivitis 10.4 AFP NODAL
5 orofaciodigital syndrome viii 10.3
6 ischemia 10.3 AFP AGO2
7 aneurysm, intracranial berry, 1 10.2 AGO2 FPR1
8 mohr syndrome 10.1 AFP AGO2 FPR1
9 down syndrome 10.1
10 dysbaric osteonecrosis 9.9 AFP UROD
11 congenital bile acid synthesis defect 9.8 AFP SIX3
12 ehlers-danlos syndrome, type viic 9.7 AFP SIX3
13 acne 9.7
14 craniosynostosis 9.7
15 primary congenital glaucoma 9.7
16 photosensitive epilepsy 9.7
17 gonadal dysgenesis 9.7
18 epilepsy 9.7
19 turner syndrome 9.7
20 congenital diaphragmatic hernia 9.7
21 tetralogy of fallot 9.7
22 mental retardation, autosomal recessive 55 9.7 AFP OFD1 TMEM67
23 sporadic pheochromocytoma 9.7 NODAL SIX3 ZIC2
24 celosomia 9.7 NODAL SIX3 ZIC2
25 pelizaeus-merzbacher disease in female carriers 9.7 NODAL SIX3 ZIC2
26 laryngotracheoesophageal cleft type 2 9.7 NODAL SIX3 ZIC2
27 laryngotracheoesophageal cleft type 4 9.7 NODAL SIX3 ZIC2
28 isolated facial myokymia 9.6 NODAL SIX3 ZIC2
29 chromosomal triplication 9.6
30 angiodysplasia 9.6 NODAL SIX3 ZIC2
31 hydrocephalus 9.6 NODAL SIX3 ZIC2
32 mental retardation, autosomal recessive 24 9.5 OFD1 TMEM67
33 shwachman-diamond type metaphyseal dysplasia 9.4 AFP NODAL SIX3 ZIC2
34 majeed syndrome 9.4 AGO2 NODAL SIX3 ZIC2
35 hypotrichosis of eyelid 6.2 AFP AGO2 CLIC2 FPR1 LGALS13 NODAL

Graphical network of the top 20 diseases related to Patau Syndrome:



Diseases related to Patau Syndrome

Symptoms & Phenotypes for Patau Syndrome

Human phenotypes related to Patau Syndrome:

56 32 (show top 50) (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
2 optic atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000648
3 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
4 cognitive impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0100543
5 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
6 low-set ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000369
7 hernia 56 32 frequent (33%) Frequent (79-30%) HP:0100790
8 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
9 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
10 cleft palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000175
11 patent ductus arteriosus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001643
12 microphthalmia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000568
13 hydronephrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000126
14 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
15 iris coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000612
16 narrow chest 56 32 frequent (33%) Frequent (79-30%) HP:0000774
17 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
18 ventricular septal defect 56 32 hallmark (90%) Very frequent (99-80%) HP:0001629
19 long philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0000343
20 median cleft lip 56 32 hallmark (90%) Very frequent (99-80%) HP:0000161
21 hypotelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000601
22 cystic hygroma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000476
23 hydrops fetalis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001789
24 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
25 multiple renal cysts 56 32 frequent (33%) Frequent (79-30%) HP:0005562
26 capillary hemangiomas 56 32 frequent (33%) Frequent (79-30%) HP:0005306
27 anophthalmia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000528
28 sensorineural hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000407
29 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
30 ectrodactyly 56 32 frequent (33%) Frequent (79-30%) HP:0100257
31 preauricular skin tag 56 32 frequent (33%) Frequent (79-30%) HP:0000384
32 preauricular pit 56 32 frequent (33%) Frequent (79-30%) HP:0004467
33 abnormal lung lobation 56 32 frequent (33%) Frequent (79-30%) HP:0002101
34 arnold-chiari malformation 56 32 frequent (33%) Frequent (79-30%) HP:0002308
35 high, narrow palate 56 32 frequent (33%) Frequent (79-30%) HP:0002705
36 bilateral single transverse palmar creases 56 32 hallmark (90%) Very frequent (99-80%) HP:0007598
37 neurological speech impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002167
38 abnormality of the helix 56 32 frequent (33%) Frequent (79-30%) HP:0011039
39 abnormality of vision 56 32 frequent (33%) Frequent (79-30%) HP:0000504
40 severe global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0011344
41 abnormality of the eyelashes 56 32 frequent (33%) Frequent (79-30%) HP:0000499
42 abnormality of the retinal vasculature 56 32 frequent (33%) Frequent (79-30%) HP:0008046
43 deeply set eye 56 32 frequent (33%) Frequent (79-30%) HP:0000490
44 abnormality of the antihelix 56 32 frequent (33%) Frequent (79-30%) HP:0009738
45 abnormality of the fontanelles or cranial sutures 56 32 hallmark (90%) Very frequent (99-80%) HP:0000235
46 abnormality of the ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000772
47 abnormality of pelvic girdle bone morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0002644
48 aplasia/hypoplasia of the iris 56 32 frequent (33%) Frequent (79-30%) HP:0008053
49 abnormality of the ureter 56 32 frequent (33%) Frequent (79-30%) HP:0000069
50 displacement of the external urethral meatus 56 32 frequent (33%) Frequent (79-30%) HP:0100627

MGI Mouse Phenotypes related to Patau Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.65 NODAL OFD1 SIX3 TMEM67 ZIC2
2 digestive/alimentary MP:0005381 9.55 NODAL OFD1 SIX3 TMEM67 ZIC2
3 embryo MP:0005380 9.43 TMEM67 ZIC2 AGO2 NODAL OFD1 SIX3
4 mortality/aging MP:0010768 9.28 AFP AGO2 FPR1 NODAL OFD1 SIX3

Drugs & Therapeutics for Patau Syndrome

Drugs for Patau Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666

Interventional clinical trials:

(show all 20)

id Name Status NCT ID Phase Drugs
1 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
2 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
3 MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy Completed NCT01122524
4 A New Prenatal Blood Test for Down Syndrome Completed NCT00877292
5 Prenatal Screening for Down Syndrome With DNAFirst Completed NCT01966991
6 Comparison of Aneuploidy Risk Evaluations Completed NCT01663350
7 Non-invasive Prenatal Diagnostic Validation Study Completed NCT01574781
8 Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies Recruiting NCT03200041
9 High Risk Multiple Gestation Study Recruiting NCT02278874
10 Multiple Gestation Study Recruiting NCT02278536
11 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
12 Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
13 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Recruiting NCT02787486
14 Non-Invasive Chromosomal Evaluation of Trisomy Study Recruiting NCT02201862
15 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
16 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
17 Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood Active, not recruiting NCT01925742
18 Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial Active, not recruiting NCT01545674
19 VAlidation of a Lower Cost aneUploidy scrEen Not yet recruiting NCT03087357
20 Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies Terminated NCT02226315

Search NIH Clinical Center for Patau Syndrome

Cochrane evidence based reviews: trisomy 13 syndrome

Genetic Tests for Patau Syndrome

Genetic tests related to Patau Syndrome:

id Genetic test Affiliating Genes
1 Complete Trisomy 13 Syndrome 29

Anatomical Context for Patau Syndrome

MalaCards organs/tissues related to Patau Syndrome:

39
Eye, Heart, Brain, Spinal Cord, Testes, Lung, Skin

Publications for Patau Syndrome

Articles related to Patau Syndrome:

(show all 40)
id Title Authors Year
1
A tumor profile in Patau syndrome (trisomy 13). ( 28544599 )
2017
2
Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome. ( 27490343 )
2016
3
Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report. ( 27134897 )
2016
4
Detection of fetal cell-free DNA in maternal plasma for Down syndrome, Edward syndrome and Patau syndrome of high risk fetus. ( 26309618 )
2015
5
Congenital diaphragmatic hernia in a case of patau syndrome: a rare association. ( 26034714 )
2015
6
Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. ( 25593701 )
2014
7
Trisomy 13 (Patau syndrome) with tetralogy of Fallot--to treat or not to treat? ( 24461962 )
2014
8
Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study. ( 25459971 )
2014
9
An interesting coexistence of Patau syndrome; Spigelian hernia and undescended testes. ( 25059026 )
2014
10
Trisomy 13 (Patau syndrome) and congenital heart defects. ( 24214527 )
2014
11
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. ( 23613355 )
2013
12
Phenotypic variability in Patau syndrome. ( 24340511 )
2013
13
Gestational, perinatal and family findings of patients with Patau syndrome. ( 24473950 )
2013
14
Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. ( 23949924 )
2013
15
First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free I^-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome. ( 24381414 )
2013
16
Longevity and Patau syndrome: what determines survival? ( 23220825 )
2012
17
Trisomy 13 (Patau syndrome) and craniosynostosis. ( 21739580 )
2011
18
Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. ( 21977150 )
2010
19
Primary congenital glaucoma associated with Patau syndrome with long survival. ( 21080618 )
2010
20
Extensive comedonal and cystic acne in Patau syndrome. ( 20537076 )
2010
21
Patau syndrome with long survival in a case of unusual mosaic trisomy 13. ( 18495567 )
2008
22
Dorsal dimelia in patau syndrome: a case report. ( 17950216 )
2007
23
Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. ( 17603803 )
2007
24
Patau syndrome. ( 17431076 )
2007
25
Patau syndrome with a long survival (146 months): a clinical report and review of literature. ( 16333832 )
2006
26
Patau syndrome and perinatal decision making. ( 23249587 )
2005
27
Patau syndrome with a long survival. A case report. ( 15266400 )
2004
28
Long-term survival in Patau syndrome. ( 11310997 )
2001
29
Trisomy 13 (Patau syndrome). ( 11042720 )
2000
30
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
31
[Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)]. ( 9047985 )
1996
32
Trisomy 13 (Patau syndrome) with an 11-year survival. ( 8462196 )
1993
33
Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome). ( 2348978 )
1990
34
Trisomy 13 (Patau) syndrome in Delaware. ( 4076474 )
1985
35
Origin of extra chromosome in Patau syndrome. ( 6500580 )
1984
36
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
37
Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome. ( 7224090 )
1980
38
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
39
Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13). ( 6965845 )
1980
40
Clinical and cytogenetic variations of Patau syndrome (demonstration of ten patients). ( 1214146 )
1975

Variations for Patau Syndrome

Expression for Patau Syndrome

Search GEO for disease gene expression data for Patau Syndrome.

Pathways for Patau Syndrome

GO Terms for Patau Syndrome

Biological processes related to Patau Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 SMAD protein signal transduction GO:0060395 8.96 AFP NODAL
2 brain development GO:0007420 8.8 NODAL SIX3 ZIC2

Sources for Patau Syndrome

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