MCID: PTS001
MIFTS: 55

Patau Syndrome

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

Aliases & Classifications for Patau Syndrome

MalaCards integrated aliases for Patau Syndrome:

Name: Patau Syndrome 12 74 52 25 58 36 15 71
Trisomy 13 12 52 25 58
Complete Trisomy 13 Syndrome 52 25 29
Trisomy 13 Syndrome 25 43
Patau's Syndrome 12 25
Chromosome 13, Trisomy 13 Complete 52
Chromosome 13 Duplication 71
Bartholin-Patau Syndrome 25
D1 Trisomy 12

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Patau Syndrome

NIH Rare Diseases : 52 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.

MalaCards based summary : Patau Syndrome, also known as trisomy 13, is related to chromosomal triplication and triploidy. An important gene associated with Patau Syndrome is FOXO1 (Forkhead Box O1), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. The drugs Emtricitabine and Cobicistat have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and eye, and related phenotypes are muscular hypotonia and neurological speech impairment

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.

KEGG : 36 Patau syndrome, also known as trisomy 13, is a chromosomal disorder characterized by the severe clinical picture of multiple congenital anomalies. It is one of the least common autosomal trisomies among live births with an estimated prevalence of 1:12000 - 1:29000 in newborns. The major clinical findings include cryptorchidism, abnormal auricles, congenital heart defects, polydactyly, microphthalmia, and micrognathia. Median survival time for patients with trisomy 13 is between 7 and 10 days and it is reported that between 86% and 91% of live-born patients with Patau syndrome do not survive beyond 1 year of life. Survival beyond the first year has been associated with mosaicism.

Wikipedia : 74 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 top 50) (show all 274)
# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 31.8 PAPPA AFP
2 triploidy 31.1 PAPPA AFP
3 cystic lymphangioma 30.9 PCNA PAPPA AFP
4 orofaciodigital syndrome viii 30.6 ZIC2 SLC27A5 SIX3 PTER PLAC4 PCNA
5 holoprosencephaly 1 30.4 ZIC2 SIX3 SHH
6 anencephaly 30.3 ZIC2 SIX3 AFP
7 coloboma of macula 30.3 ZIC2 SIX3 SHH PTER
8 oligohydramnios 30.1 PTER PGF PCNA PAPPA AFP
9 diaphragmatic hernia, congenital 30.0 SHH PAPPA DISP1
10 holoprosencephaly 29.9 ZIC2 SIX3 SHH NODAL FOXH1 DISP1
11 holoprosencephaly 4 29.9 ZIC2 SIX3 SHH FOXH1 DISP1
12 neural tube defects 29.7 ZIC2 SHH PCNA PAPPA AFP
13 orofacial cleft 29.7 ZIC2 SIX3 SHH PTER
14 alobar holoprosencephaly 29.6 ZIC2 SIX3 SHH NODAL FOXH1 DISP1
15 semilobar holoprosencephaly 29.5 ZIC2 SIX3 SHH NODAL FOXH1 DISP1
16 pseudotrisomy 13 syndrome 12.2
17 aplasia cutis congenita, nonsyndromic 11.3
18 conotruncal heart malformations 11.3
19 hypoplastic left heart syndrome 11.3
20 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.3
21 mosaic trisomy 13 10.9
22 down syndrome 10.5
23 central nervous system lipoma 10.4 ZIC2 SIX3
24 intermediate malignant teratoma 10.4 PAPPA AFP
25 mixed hepatoblastoma 10.4 PTER AFP
26 chromosome 18p deletion syndrome 10.4 ZIC2 PTER AGO2
27 holoprosencephaly 7 10.3 ZIC2 SIX3 DISP1
28 neonatal anemia 10.3 PGF PCNA PAPPA
29 twin-to-twin transfusion syndrome 10.3 PGF PCNA PAPPA
30 corpus callosum lipoma 10.3 ZIC2 SIX3 SHH
31 holoprosencephaly 8 10.3 ZIC2 DISP1
32 cerebral hemisphere lipoma 10.3 ZIC2 SIX3 SHH
33 polydactyly 10.3
34 placental insufficiency 10.3 PGF PAPPA AFP
35 myeloid leukemia 10.3
36 pallister-hall syndrome 10.3 ZIC2 SIX3 SHH
37 myelodysplastic syndrome 10.3
38 leukemia, acute myeloid 10.3
39 microphthalmia 10.3
40 cleft lip 10.3
41 47,xyy 10.3
42 ectopic pregnancy 10.2 PGF PAPPA AFP
43 duodenal atresia 10.2 SHH NODAL AFP
44 nondisjunction 10.2
45 cataract 10.2
46 patent ductus arteriosus 1 10.2
47 eclampsia 10.2
48 placenta disease 10.2 PGF PAPPA AFP
49 holoprosencephaly 3 10.2 ZIC2 SIX3 SHH DISP1
50 congenital nervous system abnormality 10.2 ZIC2 SIX3 SHH PTER

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:

58 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
3 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
6 hydrops fetalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001789
7 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
8 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
9 cystic hygroma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000476
10 atrial septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001631
11 abnormality of the fontanelles or cranial sutures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000235
12 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
13 anophthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000528
14 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
15 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
16 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
17 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
18 abnormality of pelvic girdle bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002644
19 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
20 hypotelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000601
21 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
22 median cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000161
23 seizure 31 hallmark (90%) HP:0001250
24 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
25 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
26 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
27 abnormality of the helix 58 31 frequent (33%) Frequent (79-30%) HP:0011039
28 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
29 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
30 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
31 hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100790
32 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
33 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
34 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
35 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
36 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
37 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
38 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
39 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
40 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
41 multiple renal cysts 58 31 frequent (33%) Frequent (79-30%) HP:0005562
42 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
43 aplasia/hypoplasia of the iris 58 31 frequent (33%) Frequent (79-30%) HP:0008053
44 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
45 capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0005306
46 abnormality of the ureter 58 31 frequent (33%) Frequent (79-30%) HP:0000069
47 abnormality of the antihelix 58 31 frequent (33%) Frequent (79-30%) HP:0009738
48 preauricular pit 58 31 frequent (33%) Frequent (79-30%) HP:0004467
49 abnormality of the middle ear 58 31 frequent (33%) Frequent (79-30%) HP:0000370
50 abnormal lung lobation 58 31 frequent (33%) Frequent (79-30%) HP:0002101

MGI Mouse Phenotypes related to Patau Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 AGO2 AP1S2 DISP1 FOXH1 FOXO1 NODAL
2 embryo MP:0005380 10.02 AGO2 DISP1 FOXH1 FOXO1 NODAL PGF
3 craniofacial MP:0005382 9.98 DISP1 FOXH1 FOXO1 NODAL SHH SIX3
4 endocrine/exocrine gland MP:0005379 9.97 AFP AGO2 AP1S2 DISP1 FOXH1 FOXO1
5 digestive/alimentary MP:0005381 9.95 DISP1 FOXH1 FOXO1 NODAL SHH SIX3
6 homeostasis/metabolism MP:0005376 9.93 AFP AGO2 AP1S2 DISP1 FOXH1 FOXO1
7 normal MP:0002873 9.56 AGO2 DISP1 FOXH1 FOXO1 NODAL PAPPA
8 respiratory system MP:0005388 9.17 DISP1 FOXH1 NODAL PGF SHH SIX3

Drugs & Therapeutics for Patau Syndrome

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Emtricitabine Approved, Investigational 143491-57-0 60877
2
Cobicistat Approved 1004316-88-4
3
Tenofovir Experimental, Investigational 147127-20-6 464205
4 Chorionic Gonadotropin
5 Elvitegravir, Cobicistat, Emtricitabine, Tenofovir Disoproxil Fumarate Drug C...
6 Antiviral Agents
7 Anti-HIV Agents
8 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination
9 Anti-Infective Agents
10 Anti-Retroviral Agents
11 Calcium, Dietary
12
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
2 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Unknown status NCT03680651
3 Preimplantation Genetic Screening (PGS) Using Microarray Technique: Method to Select the Embryo With the Greatest Chance for Successful Implantation During in Vitro Fertilization in Couples With a History of Unsuccessful IVF Attempts Unknown status NCT02265614
4 Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies Completed NCT03200041
5 Non-Invasive Chromosomal Evaluation of Trisomy Study Completed NCT02201862
6 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
7 Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood Completed NCT02109770
8 Performance of the Verinata Health Prenatal Aneuploidy Test Compared to Current Fetal Aneuploidy Screening Results and Pregnancy Outcomes in an 'All‐Risk' Population Completed NCT01663350
9 A Clinical Study to Evaluate the Relative Clinical Sensitivity, Specificity, and Performance of the a Laboratory Developed Test as a Screening Test for Fetal Chromosomal Aneuploidy, Infectious and Other Diseases, and RhD Genotyping in the General Population of Pregnant Women Completed NCT02787486
10 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278874
11 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278536
12 Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA CENTAUR® PREGNANCY ASSOCIATED PLASMA PROTEIN A and ADVIA Centaur® Free Beta Human Chorionic Gonadotropin ASSAYS Completed NCT03629795
13 PEGASUS: PErsonalized Genomics for Prenatal Aneuploidy Screening USing Maternal Blood Completed NCT01925742
14 DNAFirst: Primary Screening for Down Syndrome by Maternal Plasma DNA Completed NCT01966991
15 A Safer Pre-Natal Diagnosis Using Free DNA in Maternal Blood Completed NCT01472523
16 A Prospective, Multi-center Observational Study With Blinded, Nested Case:Control Analyses to Evaluate the Performance of the Verinata Health Prenatal Aneuploidy Diagnostic Test Completed NCT01122524
17 The RNA (RNA-Based Noninvasive Aneuploidy) Study Completed NCT00877292
18 Development of Non-invasive Prenatal Diagnostic Test Based on Fetal DNA Isolated From Maternal Blood Completed NCT01574781
19 Biventricular Pacing in Children With Wide QRS After Surgery for Congenital Heart Disease Completed NCT02644824
20 Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
21 Ensuring Patients' Informed Access to Noninvasive Prenatal Testing Recruiting NCT03420274
22 Development of a Computer-Aided Genetics Education Module (CAGEM) on Screening and Testing for Fetal Chromosome Conditions and Carrier Status: A Clinical Trial Recruiting NCT03449225
23 Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS) Active, not recruiting NCT01545674
24 Whole Blood Specimen Collection From Pregnant Subjects Active, not recruiting NCT02430584
25 SNP-based Microdeletion and Aneuploidy RegisTry Active, not recruiting NCT02381457
26 The VALUE Study - Women & Infants as the Coordinating Center Active, not recruiting NCT03087357
27 Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13) Enrolling by invitation NCT03559374
28 A Retrospective Analysis of Fetal Outcome Compared to Massively Parallel Sequencing Test Results Obtained From Multiple Gestation Pregnancies at Increased Risk for Fetal Chromosomal Aneuploidy Terminated NCT02226315
29 A Multi-center Prospective Study to Analyze Cancer-derived Cell-free DNA (cfDNA) in Men With Elevated PSA Levels Terminated NCT02771769

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:

# Genetic test Affiliating Genes
1 Complete Trisomy 13 Syndrome 29

Anatomical Context for Patau Syndrome

MalaCards organs/tissues related to Patau Syndrome:

40
Testes, Heart, Eye, Brain, Spinal Cord, Myeloid, Bone

Publications for Patau Syndrome

Articles related to Patau Syndrome:

(show top 50) (show all 1601)
# Title Authors PMID Year
1
Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China. 61
32503639 2020
2
Clinical performance of non-invasive prenatal testing for trisomies 21, 18 and 13 in twin pregnancies: A cohort study and a systematic meta-analysis. 61
32166736 2020
3
Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study. 61
32539871 2020
4
[Factors affecting the failure of non-invasive prenatal testing and the feasibility analysis of retesting]. 61
32472533 2020
5
Opioid-free anesthesia for a child with trisomy 13 with obstructive sleep apnea: a case report. 61
32529458 2020
6
Hidradenitis suppurativa in a long-lived patient with trisomy 13. 61
32490117 2020
7
Perinatal Counseling Following a Diagnosis of Trisomy 13 or 18: Incorporating the Facts, Parental Values, and Maintaining Choices. 61
31996562 2020
8
CE Test for Perinatal Counseling Following a Diagnosis of Trisomy 13 or 18: Incorporating the Facts, Parental Values, and Maintaining Choices. 61
32459681 2020
9
Implementation of a Perinatal Hospice Program. 61
32384325 2020
10
Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation. 61
32176318 2020
11
Risk factors associated with fetal pleural effusion in prenatal diagnosis: a retrospective study in a single institute in Southern China. 61
31809620 2020
12
Sleep disordered breathing in children with trisomy 13 and trisomy 18. 61
32522368 2020
13
Pediatric Cardiology Specialist's Opinions Toward the Acceptability of Comfort Care for Congenital Heart Disease. 61
32419096 2020
14
Generation of an induced pluripotent stem cell line from chorionic villi of a Patau syndrome spontaneous abortion. 61
32361311 2020
15
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome. 61
31880412 2020
16
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. 61
31955448 2020
17
The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016. 61
32489745 2020
18
Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings. 61
30253427 2020
19
[The value of combined use of chromosomal karyotyping and chromosome microarray analysis for prenatal diagnosis]. 61
32219820 2020
20
Neuropathology of Congenital Heart Disease in an Inpatient Autopsy Cohort 2000-2017. 61
32200729 2020
21
Fetal umbilical cord cyst may evolve to omphalocele during pregnancy. 61
31724176 2020
22
Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study. 61
32317338 2020
23
Ethical considerations for cardiac surgical interventions in children with trisomy 13 and trisomy 18. 61
31975573 2020
24
Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing: A systematic review and meta-analysis. 61
31834626 2020
25
Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. 61
31868316 2020
26
Comparing prenatal screening experiences of Icelandic women who received false-positive and true-negative first-trimester combined screening results in Iceland in 2012-2016. 61
32198907 2020
27
Building trust and improving communication with parents of children with Trisomy 13 and 18: A mixed-methods study. 61
31280664 2020
28
[Analysis of follow-up information and pregnancy outcomes of cell free DNA prenatal screening]. 61
32146739 2020
29
Infant with trisomy 13 who developed acute elevation of intraocular pressure and glaucoma. 61
31981267 2020
30
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism. 61
32187601 2020
31
Agenesis of the corpus callosum and hepatoblastoma. 61
31729153 2020
32
Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes. 61
31609083 2020
33
Nasal bone in screening for Trisomy 18 and 13 at 11-13 + 6 weeks of gestation - own experiences. 61
32495931 2020
34
Mixed method study of quality of life for children with trisomy 18 and 13 after cardiac surgery. 61
31964456 2020
35
A graph theory approach to analyze birth defect associations. 61
32442191 2020
36
Rapid prenatal aneuploidy detection of BACs-on-Beads assay in 4961 cases of amniotic fluid samples. 61
31875738 2019
37
The Value of Detailed First-Trimester Ultrasound Anomaly Scan for the Detection of Chromosomal Abnormalities. 61
30241105 2019
38
Evidence for the Oocyte Mosaicism Selection model on the origin of Patau syndrome (trisomy 13). 61
31464342 2019
39
Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016. 61
31691307 2019
40
Validation of fetal DNA fraction estimation and its application in noninvasive prenatal testing for aneuploidy detection in multiple pregnancies. 61
31671222 2019
41
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands. 61
31708118 2019
42
Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory. 61
31813398 2019
43
Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. 61
31566869 2019
44
Combining the use of a fetal fraction-based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy. 61
31872514 2019
45
The association of Trisomy 13 and 18 and hospital discharge outcomes among neonates in California: A retrospective cohort study. 61
30935949 2019
46
Chromosomal copy number variations in products of conception from spontaneous abortion by next-generation sequencing technology. 61
31764825 2019
47
Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features. 61
31783780 2019
48
[Noninvasive prenatal genetic testing in 6804 pregnant women aged less than 35 years with positive results in serum screening]. 61
31852638 2019
49
Usefulness and reliability of cell free fetal DNA screening for main trisomies in case of atypical profile on first trimester maternal serum screening. 61
31779618 2019
50
Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test. 61
31722585 2019

Variations for Patau Syndrome

Expression for Patau Syndrome

Search GEO for disease gene expression data for Patau Syndrome.

Pathways for Patau Syndrome

Pathways related to Patau Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 ZIC2 NODAL FOXO1 FOXH1
2 11.46 SHH NODAL AFP
3 9.58 SHH NODAL

GO Terms for Patau Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 9.67 SHH NODAL FOXH1
2 heart looping GO:0001947 9.54 SHH NODAL FOXH1
3 negative regulation of cholesterol efflux GO:0090370 9.51 SHH MIR144
4 anatomical structure formation involved in morphogenesis GO:0048646 9.48 SHH NODAL
5 digestive tract morphogenesis GO:0048546 9.46 SHH NODAL
6 negative regulation of androgen receptor signaling pathway GO:0060766 9.43 NODAL FOXH1
7 regulation of neural precursor cell proliferation GO:2000177 9.4 SIX3 FOXO1
8 telencephalon regionalization GO:0021978 9.32 SIX3 SHH
9 formation of anatomical boundary GO:0048859 9.26 SHH NODAL
10 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.16 NODAL FOXH1
11 embryonic pattern specification GO:0009880 9.13 SHH NODAL DISP1
12 determination of left/right symmetry GO:0007368 8.92 SHH NODAL FOXH1 DISP1

Molecular functions related to Patau Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 morphogen activity GO:0016015 8.62 SHH NODAL

Sources for Patau Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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