MCID: PTS001
MIFTS: 52

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 77 54 26 60 38 15 74
Trisomy 13 12 54 26 60
Complete Trisomy 13 Syndrome 54 26 30
Trisomy 13 Syndrome 26 45
Patau's Syndrome 12 26
Chromosome 13, Trisomy 13 Complete 54
Chromosome 13 Duplication 74
Bartholin-Patau Syndrome 26
D1 Trisomy 12

Characteristics:

Orphanet epidemiological data:

60
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 : 54 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 orofaciodigital syndrome viii and alobar holoprosencephaly. An important gene associated with Patau Syndrome is FOXO1 (Forkhead Box O1). The drugs Aspirin and Chorionic Gonadotropin have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and brain, and related phenotypes are malar flattening and low-set ears

Genetics Home Reference : 26 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 : 77 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 116)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome viii 31.8 AFP AGO2
2 alobar holoprosencephaly 30.2 SIX3 ZIC2
3 oligohydramnios 29.6 AFP TMEM67
4 pseudotrisomy 13 syndrome 11.9
5 aplasia cutis congenita, nonsyndromic 11.5
6 hypoplastic left heart syndrome 11.2
7 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.2
8 mosaic trisomy 13 10.8
9 chromosomal triplication 10.5
10 leukemia 10.4
11 down syndrome 10.3
12 leukemia, acute myeloid 10.2
13 holoprosencephaly 10.2
14 myeloid leukemia 10.2
15 mature teratoma 10.2 AFP PCNA
16 triploidy 10.1
17 septopreoptic holoprosencephaly 10.1 SIX3 ZIC2
18 pre-eclampsia 10.1
19 eclampsia 10.1
20 midline interhemispheric variant of holoprosencephaly 10.1 SIX3 ZIC2
21 lobar holoprosencephaly 10.1 SIX3 ZIC2
22 myelofibrosis 10.1
23 polydactyly 10.1
24 acute leukemia 10.1
25 cystic lymphangioma 10.1
26 teratoma 10.1
27 microform holoprosencephaly 10.1 SIX3 ZIC2
28 semilobar holoprosencephaly 10.0 SIX3 ZIC2
29 appendicitis 10.0
30 abdominal wall defect 10.0
31 myelodysplastic syndrome 10.0
32 left ventricular noncompaction 10.0
33 lymphocytic leukemia 10.0
34 synostosis 10.0
35 cleft lip 10.0
36 hypoglycemia 10.0
37 hydrolethalus syndrome 1 10.0 AFP TMEM67
38 neurofibromatosis, type ii 10.0
39 diaphragmatic hernia, congenital 10.0
40 tetralogy of fallot 10.0
41 glaucoma 3, primary congenital, a 10.0
42 glaucoma 3, primary infantile, b 10.0
43 craniosynostosis 10.0
44 primary congenital glaucoma 10.0
45 photosensitive epilepsy 10.0
46 heart disease 10.0
47 gonadal dysgenesis 10.0
48 epilepsy 10.0
49 turner syndrome 10.0
50 congenital nervous system abnormality 10.0 SIX3 ZIC2

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:

60 33 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
3 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
4 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
5 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
6 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
7 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
8 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
9 patent ductus arteriosus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001643
10 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
11 hydrops fetalis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001789
12 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
13 cystic hygroma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000476
14 atrial septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001631
15 microphthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000568
16 abnormality of the fontanelles or cranial sutures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000235
17 bilateral single transverse palmar creases 60 33 hallmark (90%) Very frequent (99-80%) HP:0007598
18 ventricular septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001629
19 abnormality of pelvic girdle bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002644
20 hypotelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000601
21 postaxial hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001162
22 anophthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000528
23 median cleft lip 60 33 hallmark (90%) Very frequent (99-80%) HP:0000161
24 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
25 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
26 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
27 abnormality of the helix 60 33 frequent (33%) Frequent (79-30%) HP:0011039
28 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
29 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
30 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
31 abnormality of vision 60 33 frequent (33%) Frequent (79-30%) HP:0000504
32 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
33 hernia 60 33 frequent (33%) Frequent (79-30%) HP:0100790
34 narrow chest 60 33 frequent (33%) Frequent (79-30%) HP:0000774
35 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
36 high, narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0002705
37 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
38 arnold-chiari malformation 60 33 frequent (33%) Frequent (79-30%) HP:0002308
39 abnormality of the antihelix 60 33 frequent (33%) Frequent (79-30%) HP:0009738
40 multiple renal cysts 60 33 frequent (33%) Frequent (79-30%) HP:0005562
41 abnormality of the ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000772
42 aplasia/hypoplasia of the iris 60 33 frequent (33%) Frequent (79-30%) HP:0008053
43 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
44 preauricular skin tag 60 33 frequent (33%) Frequent (79-30%) HP:0000384
45 abnormality of the ureter 60 33 frequent (33%) Frequent (79-30%) HP:0000069
46 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
47 preauricular pit 60 33 frequent (33%) Frequent (79-30%) HP:0004467
48 abnormality of female internal genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000008
49 abnormality of the middle ear 60 33 frequent (33%) Frequent (79-30%) HP:0000370
50 abnormal lung lobation 60 33 frequent (33%) Frequent (79-30%) HP:0002101

MGI Mouse Phenotypes related to Patau Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.35 AGO2 FOXO1 SIX3 TMEM67 ZIC2
2 mortality/aging MP:0010768 9.23 AFP AGO2 FOXO1 PCNA SIX3 TMEM67

Drugs & Therapeutics for Patau Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved 50-78-2 2244
2 Chorionic Gonadotropin

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
2 Multiple Gestation Study Unknown status NCT02278536
3 Non-Invasive Chromosomal Evaluation of Trisomy Study Unknown status NCT02201862
4 Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood Completed NCT01925742 Not Applicable
5 Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA Centaur PAPPA and BhCG Assays Completed NCT03629795
6 High Risk Multiple Gestation Study Completed NCT02278874
7 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
8 Prenatal Screening for Down Syndrome With DNAFirst Completed NCT01966991
9 MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy Completed NCT01122524
10 A New Prenatal Blood Test for Down Syndrome Completed NCT00877292
11 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
12 Comparison of Aneuploidy Risk Evaluations Completed NCT01663350
13 Non-invasive Prenatal Diagnostic Validation Study Completed NCT01574781
14 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
15 Ultrasonographic Fetal Soft Markers and Aneuploidy Recruiting NCT03861520
16 Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
17 Ensuring Patients' Informed Access to Noninvasive Prenatal Testing Recruiting NCT03420274 Not Applicable
18 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Recruiting NCT03680651
19 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
20 Biobank on Prematurity, Preeclampsia and Other Pregnancy Complications Recruiting NCT02744365
21 Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies Active, not recruiting NCT03200041 Not Applicable
22 Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial Active, not recruiting NCT01545674
23 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Active, not recruiting NCT02381457
24 VAlidation of a Lower Cost aneUploidy scrEen Enrolling by invitation NCT03087357
25 Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13) Enrolling by invitation NCT03559374
26 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:

# Genetic test Affiliating Genes
1 Complete Trisomy 13 Syndrome 30

Anatomical Context for Patau Syndrome

MalaCards organs/tissues related to Patau Syndrome:

42
Eye, Heart, Brain, Spinal Cord, Testes, Myeloid, Bone

Publications for Patau Syndrome

Articles related to Patau Syndrome:

(show top 50) (show all 509)
# Title Authors Year
1
Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease. ( 30291384 )
2019
2
The association of Trisomy 13 and 18 and hospital discharge outcomes among neonates in California: A retrospective cohort study. ( 30935949 )
2019
3
An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21. ( 30978256 )
2019
4
Employ ductus venous blood flow in the early detection of trisomy 21, trisomy 18, and trisomy 13: A meta-analysis. ( 30896619 )
2019
5
Mirror Syndrome assocciated with Patau Syndrome: A Case Report. ( 29768639 )
2018
6
Role of Overexpressed Transcription Factor FOXO1 in Fatal Cardiovascular Septal Defects in Patau Syndrome: Molecular and Therapeutic Strategies. ( 30423812 )
2018
7
Transformation of MDS/MPN-RS-T to AML: Trisomy 13, resistant thrombocytosis and transient disease control with oral busulfan therapy. ( 28984013 )
2018
8
Colon Cancer in an Adult with Trisomy 13. ( 30454509 )
2018
9
Congenital Heart Surgical Admissions in Patients with Trisomy 13 and 18: Frequency, Morbidity, and Mortality. ( 30556105 )
2018
10
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses. ( 30328679 )
2018
11
An 8-week-old infant with trisomy 13: dilemmas for medical decision making. ( 30263999 )
2018
12
Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment. ( 30152146 )
2018
13
50 Years Ago in The Journal of Pediatrics: Trisomy 13 (D1) Syndrome: Studies on Parental Age, Sex Ratio, and Survival. ( 30049403 )
2018
14
Management options and parental voice in the treatment of trisomy 13 and 18. ( 29977011 )
2018
15
Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18. ( 29740195 )
2018
16
Concerns About the Study "Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18". ( 29712761 )
2018
17
Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed clinical observation. ( 29681109 )
2018
18
Adenocarcinoma and polyposis of the colon in a 20-year-old patient with Trisomy 13: a case report. ( 29501064 )
2018
19
Parent Perspectives of Support Received from Physicians and/or Genetic Counselors Following a Decision to Continue a Pregnancy with a Prenatal Diagnosis of Trisomy 13/18. ( 29079891 )
2018
20
Factors Influencing Outcomes After Cardiac Intervention in Infants with Trisomy 13 and 18. ( 28948390 )
2018
21
Nuclear Projections in Neutrophils for Supporting the Diagnosis of Trisomy 13. ( 28747288 )
2018
22
Obstetric practice patterns in pregnancies complicated by fetal trisomy 13 or 18. ( 28629247 )
2018
23
Trisomy 13 and the risk of gestational hypertensive disorders: a population-based study. ( 28514881 )
2018
24
Neuroradiological findings of trisomy 13 in a rare long-term survivor. ( 28195512 )
2018
25
Early diagnosis of trisomy 21, trisomy 18 and trisomy 13 using nuchal translucency thickness and ductus venosus blood flow waveform in West China. ( 30569178 )
2018
26
Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature. ( 28488311 )
2017
27
Phylloid hypomelanosis associated with a mosaic trisomy 13 in the 13q31.3-qter region: atypical phylloid distribution and typical hypomelanosis. ( 27930866 )
2017
28
A tumor profile in Patau syndrome (trisomy 13). ( 28544599 )
2017
29
Acne conglobata in a long-term survivor with trisomy 13, accompanied by selective IgM deficiency. ( 28480529 )
2017
30
Long-Term Outcomes of Children With Trisomy 13 and 18 After Congenital Heart Disease Interventions. ( 28456396 )
2017
31
Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome. ( 29241931 )
2017
32
Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development. ( 29220612 )
2017
33
Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18. ( 29046387 )
2017
34
Trisomy 13 and 18: Cardiac Surgery Makes Sense if It Is Part of a Comprehensive Care Strategy. ( 29046385 )
2017
35
Trisomy 13 by robertsonian translocation rob (13;13)(q10;q10) +13: about one case. ( 29043983 )
2017
36
The Anesthetic Management for a Patient With Trisomy 13. ( 28858551 )
2017
37
Factors related to home health-care transition in trisomy 13. ( 28856870 )
2017
38
Next-generation Sequencing and Karyotype Analysis for the Diagnosis of Robertsonian Translocation Type Trisomy 13: A Case Report. ( 28828329 )
2017
39
Monozygotic Twins Discordant for Trisomy 13: A Case of Trisomic Rescue Supporting the Continued Need for First-Trimester Ultrasound. ( 28727976 )
2017
40
Trisomy 13-confined placental mosaicism: is there an increased risk of gestational hypertensive disorders? ( 28671725 )
2017
41
"You Can Carry the Torch Now:" A Qualitative Analysis of Parents' Experiences Caring for a Child with Trisomy 13 or 18. ( 28550383 )
2017
42
Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature. ( 28394407 )
2017
43
Treatment Decisions for Babies with Trisomy 13 and 18. ( 28365826 )
2017
44
Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. ( 28328132 )
2017
45
Transitions in Care for Infants with Trisomy 13 or 18. ( 28301894 )
2017
46
Trisomy 13 with prenatally diagnosed congenital cystic adenomatoid malformation and hernia of the umbilical cord: A case report. ( 28285557 )
2017
47
The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options. ( 28266126 )
2017
48
Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review. ( 28192554 )
2017
49
Shared Decision Making for Children With Trisomy 13 and 18. ( 28192544 )
2017
50
Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18. ( 28079873 )
2017

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 cellular response to hydrogen peroxide GO:0070301 8.96 FOXO1 PCNA
2 regulation of neural precursor cell proliferation GO:2000177 8.62 FOXO1 SIX3

Sources for Patau Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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