MCID: PTS001
MIFTS: 49

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 U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1). 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 malar flattening and low-set ears

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 276)
# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 31.8 PAPPA AFP
2 triploidy 31.1 PAPPA AFP
3 orofaciodigital syndrome viii 31.0 ZIC2 SIX3 PTER PLAC4 PCNA PAPPA
4 cystic lymphangioma 30.9 PCNA PAPPA AFP
5 holoprosencephaly 30.5 ZIC2 SIX3 SHH DISP1
6 holoprosencephaly 1 30.3 ZIC2 SIX3 SHH
7 coloboma of macula 30.2 ZIC2 SIX3 SHH PTER
8 holoprosencephaly 4 30.2 ZIC2 SIX3 SHH DISP1
9 alobar holoprosencephaly 30.1 ZIC2 SIX3 SHH DISP1
10 oligohydramnios 30.1 PTER PGF PCNA PAPPA AFP
11 semilobar holoprosencephaly 30.1 ZIC2 SIX3 SHH DISP1
12 neural tube defects 29.7 ZIC2 SHH PCNA PAPPA AFP
13 orofacial cleft 29.7 ZIC2 SIX3 SHH PTER
14 pseudotrisomy 13 syndrome 12.2
15 aplasia cutis congenita, nonsyndromic 11.3
16 conotruncal heart malformations 11.3
17 hypoplastic left heart syndrome 11.3
18 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.3
19 mosaic trisomy 13 10.9
20 central nervous system lipoma 10.5 ZIC2 SIX3
21 down syndrome 10.5
22 mixed hepatoblastoma 10.4 PTER AFP
23 chorioangioma 10.4 PCNA AFP
24 intermediate malignant teratoma 10.4 PAPPA AFP
25 holoprosencephaly 7 10.3 ZIC2 SIX3 DISP1
26 holoprosencephaly 9 10.3 ZIC2 SIX3 DISP1
27 holoprosencephaly 8 10.3 ZIC2 DISP1
28 rh isoimmunization 10.3 RHCE AFP
29 twin-to-twin transfusion syndrome 10.3 PGF PCNA PAPPA
30 polydactyly 10.3
31 placental insufficiency 10.3 PGF PAPPA AFP
32 duodenal atresia 10.3 SHH PAPPA AFP
33 corpus callosum lipoma 10.3 ZIC2 SIX3 SHH
34 myelodysplastic syndrome 10.3
35 myeloid leukemia 10.3
36 cerebral hemisphere lipoma 10.3 ZIC2 SIX3 SHH
37 chromosome 18p deletion syndrome 10.3 PTER AGO2
38 leukemia, acute myeloid 10.3
39 pallister-hall syndrome 10.3 ZIC2 SIX3 SHH
40 microphthalmia 10.3
41 cleft lip 10.3
42 47,xyy 10.3
43 ectopic pregnancy 10.2 PGF PAPPA AFP
44 nondisjunction 10.2
45 placenta disease 10.2 PGF PAPPA AFP
46 cataract 10.2
47 patent ductus arteriosus 1 10.2
48 eclampsia 10.2
49 neonatal anemia 10.2 RHCE PGF PCNA PAPPA
50 midline interhemispheric variant of holoprosencephaly 10.2 ZIC2 SIX3 SHH DISP1

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 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
4 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
5 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
6 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
8 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
9 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
10 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
11 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
12 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
13 hydrops fetalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001789
14 cystic hygroma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000476
15 atrial septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001631
16 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
17 anophthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000528
18 abnormality of the fontanelles or cranial sutures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000235
19 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
20 abnormality of pelvic girdle bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002644
21 hypotelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000601
22 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
23 median cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000161
24 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
25 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
26 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
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 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
30 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
31 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
32 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
33 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
34 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
35 hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100790
36 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
37 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
38 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
39 capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0005306
40 preauricular pit 58 31 frequent (33%) Frequent (79-30%) HP:0004467
41 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
42 abnormality of the antihelix 58 31 frequent (33%) Frequent (79-30%) HP:0009738
43 multiple renal cysts 58 31 frequent (33%) Frequent (79-30%) HP:0005562
44 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
45 abnormality of female internal genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000008
46 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
47 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
48 aplasia/hypoplasia of the iris 58 31 frequent (33%) Frequent (79-30%) HP:0008053
49 abnormality of the ureter 58 31 frequent (33%) Frequent (79-30%) HP:0000069
50 abnormality of the middle ear 58 31 frequent (33%) Frequent (79-30%) HP:0000370

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
Calcium Approved, Nutraceutical 7440-70-2 271
4
Tenofovir Experimental, Investigational 147127-20-6 464205
5 Chorionic Gonadotropin
6 Antiviral Agents
7 Anti-Retroviral Agents
8 Elvitegravir, Cobicistat, Emtricitabine, Tenofovir Disoproxil Fumarate Drug C...
9 Anti-Infective Agents
10 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination
11 Anti-HIV Agents
12 Calcium, Dietary

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
2 Non-Invasive Chromosomal Evaluation of Trisomy Study Unknown status NCT02201862
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 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
5 Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood Completed NCT02109770
6 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
7 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
8 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278874
9 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278536
10 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
11 PEGASUS: PErsonalized Genomics for Prenatal Aneuploidy Screening USing Maternal Blood Completed NCT01925742
12 DNAFirst: Primary Screening for Down Syndrome by Maternal Plasma DNA Completed NCT01966991
13 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
14 The RNA (RNA-Based Noninvasive Aneuploidy) Study Completed NCT00877292
15 Development of Non-invasive Prenatal Diagnostic Test Based on Fetal DNA Isolated From Maternal Blood Completed NCT01574781
16 Biventricular Pacing in Children With Wide QRS After Surgery for Congenital Heart Disease Completed NCT02644824
17 Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
18 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
19 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Recruiting NCT03680651
20 A Multi-center Prospective Study to Analyze Cancer-derived Cell-free DNA (cfDNA) in Men With Elevated PSA Levels Recruiting NCT02771769
21 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
22 Ensuring Patients' Informed Access to Noninvasive Prenatal Testing Recruiting NCT03420274
23 Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies Active, not recruiting NCT03200041
24 Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS) Active, not recruiting NCT01545674
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 A Safer Pre-Natal Diagnosis Using Free DNA in Maternal Blood Active, not recruiting NCT01472523
28 Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13) Enrolling by invitation NCT03559374
29 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

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 1579)
# Title Authors PMID Year
1
Agenesis of the corpus callosum and hepatoblastoma. 61
31729153 2020
2
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. 61
31955448 2020
3
Ethical considerations for cardiac surgical interventions in children with trisomy 13 and trisomy 18. 61
31975573 2020
4
Infant with trisomy 13 who developed acute elevation of intraocular pressure and glaucoma. 61
31981267 2020
5
Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes. 61
31609083 2020
6
Perinatal Counseling Following a Diagnosis of Trisomy 13 or 18: Incorporating the Facts, Parental Values, and Maintaining Choices. 61
31996562 2020
7
Mixed method study of quality of life for children with trisomy 18 and 13 after cardiac surgery. 61
31964456 2020
8
Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory. 61
31813398 2019
9
Risk factors associated with fetal pleural effusion in prenatal diagnosis: a retrospective study in a single institute in Southern China. 61
31809620 2019
10
Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing: A systematic review and meta-analysis. 61
31834626 2019
11
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
12
Validation of fetal DNA fraction estimation and its application in noninvasive prenatal testing for aneuploidy detection in multiple pregnancies. 61
31671222 2019
13
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands. 61
31708118 2019
14
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome. 61
31880412 2019
15
Evidence for the Oocyte Mosaicism Selection model on the origin of Patau syndrome (trisomy 13). 61
31464342 2019
16
Rapid prenatal aneuploidy detection of BACs-on-Beads assay in 4961 cases of amniotic fluid samples. 61
31875738 2019
17
The Value of Detailed First-Trimester Ultrasound Anomaly Scan for the Detection of Chromosomal Abnormalities. 61
30241105 2019
18
Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. 61
31868316 2019
19
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
20
The association of Trisomy 13 and 18 and hospital discharge outcomes among neonates in California: A retrospective cohort study. 61
30935949 2019
21
Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. 61
31566869 2019
22
National population-based estimates for major birth defects, 2010-2014. 61
31580536 2019
23
[Noninvasive prenatal genetic testing in 6804 pregnant women aged less than 35 years with positive results in serum screening]. 61
31852638 2019
24
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
25
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
26
Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test. 61
31722585 2019
27
[The value of non-invasive prenatal testing for the identification of fetal chromosome aneuploidies]. 61
31703133 2019
28
Comorbidity landscape of the Danish patient population affected by chromosome abnormalities. 61
31019277 2019
29
Chromosomal copy number variations in products of conception from spontaneous abortion by next-generation sequencing technology. 61
31764825 2019
30
Fetal umbilical cord cyst may evolve to omphalocele during pregnancy. 61
31724176 2019
31
Trisomy 13, Large Ventricular Septal Defect With Failure to Thrive: Family Wishes to Have Complete Repair. 61
31653287 2019
32
The role of ultrasound in women with a positive NIPT result for trisomy 18 and 13. 61
31759530 2019
33
Chip-Based Digital PCR Approach Provides A Sensitive and Cost-Effective Single-Day Screening Tool for Common Fetal Aneuploidies-A Proof of Concept Study. 61
31690017 2019
34
State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study. 61
31625225 2019
35
Clinical experience across the fetal-fraction spectrum for a non-invasive prenatal screen with low test-failure rate. 61
31671482 2019
36
Attitudes Toward Hypothetical Uses of Gene-Editing Technologies in Parents of People with Autosomal Aneuploidies. 61
31599684 2019
37
Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma. 61
31429096 2019
38
Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations. 61
30940924 2019
39
CRISPR-mediated live imaging of genome editing and transcription. 61
31488703 2019
40
5-Year review on amniocentesis and its maternal fetal complications. 61
31539354 2019
41
Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21-year single-center experience. 61
31207162 2019
42
Comparison of quantitative fluorescent polymerase chain reaction and karyotype analysis for prenatal screening of chromosomal aneuploidies in 270 amniotic fluid samples. 61
31194688 2019
43
Clinical application of a contingent screening strategy for trisomies with cell-free DNA: a pilot study. 61
31370808 2019
44
Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting. 61
30191619 2019
45
The ratio of cavum septi pellucidi width to anteroposterior cerebellar diameter: A novel index as a diagnostic adjunct for prenatal diagnosis of trisomy 18. 61
30932268 2019
46
High accuracy of quantitative fluorescence polymerase chain reaction combined with non-invasive pre-natal testing for mid-pregnancy diagnosis of common fetal aneuploidies: A single-center experience in China. 61
31281451 2019
47
Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study. 61
31070015 2019
48
Prevalence of selected birth defects by maternal nativity status, United States, 1999-2007. 61
30920179 2019
49
Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells. 61
30326779 2019
50
Clinical article: screening for trisomy 13 using traditional combined screening versus an ultrasound-based protocol. 61
31122094 2019

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:

# Name GO ID Score Top Affiliating Genes
1 embryonic pattern specification GO:0009880 9.16 SHH DISP1
2 regulation of neural precursor cell proliferation GO:2000177 8.96 SIX3 FOXO1
3 telencephalon regionalization GO:0021978 8.62 SIX3 SHH

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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