MCID: PTS001
MIFTS: 54

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 76 53 25 59 37 15 73
Trisomy 13 12 53 25 59
Complete Trisomy 13 Syndrome 53 25 29
Trisomy 13 Syndrome 25 44
Patau's Syndrome 12 25
Chromosome 13, Trisomy 13 Complete 53
Chromosome 13 Duplication 73
Bartholin-Patau Syndrome 25
D1 Trisomy 12

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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 cystic lymphangioma. An important gene associated with Patau Syndrome is NODAL (Nodal Growth Differentiation Factor). The drugs Aspirin and Chorionic Gonadotropin have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and testes, 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.

Wikipedia : 76 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 112)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome viii 31.7 AFP AGO2
2 cystic lymphangioma 30.3 AFP NODAL
3 holoprosencephaly 30.1 NODAL SIX3 ZIC2
4 pre-eclampsia 29.9 AFP LGALS13 PGF
5 alobar holoprosencephaly 29.9 NODAL SIX3 ZIC2
6 oligohydramnios 29.6 AFP TMEM67
7 patau syndrome trisomy 13 12.4
8 pseudotrisomy 13 syndrome 11.8
9 aplasia cutis congenita, nonsyndromic 11.2
10 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.2
11 mosaic trisomy 13 10.8
12 down syndrome 10.3
13 leukemia 10.2
14 leukemia, acute myeloid 10.2
15 myeloid leukemia 10.2
16 ovarian embryonal carcinoma 10.2 AFP NODAL
17 triploidy 10.1
18 eclampsia 10.1
19 myelofibrosis 10.1
20 polydactyly 10.1
21 acute leukemia 10.1
22 teratoma 10.1
23 placental insufficiency 10.0 AFP PGF
24 nephronophthisis 19 10.0 OFD1 TMEM67
25 placenta disease 10.0 AFP PGF
26 myelodysplastic syndrome 10.0
27 left ventricular noncompaction 10.0
28 lymphocytic leukemia 10.0
29 synostosis 10.0
30 cleft lip 10.0
31 meckel syndrome, type 6 10.0 OFD1 TMEM67
32 chromosomal disease 10.0 AFP UROD
33 diaphragmatic hernia, congenital 9.9
34 tetralogy of fallot 9.9
35 glaucoma 3, primary congenital, a 9.9
36 glaucoma 3, primary infantile, b 9.9
37 craniosynostosis 9.9
38 primary congenital glaucoma 9.9
39 photosensitive epilepsy 9.9
40 heart disease 9.9
41 gonadal dysgenesis 9.9
42 epilepsy 9.9
43 turner syndrome 9.9
44 chromosomal triplication 9.9
45 severe pre-eclampsia 9.9 LGALS13 PGF
46 meckel diverticulum 9.9
47 nondisjunction 9.9
48 leukemia, acute lymphoblastic 9.9
49 sacrococcygeal teratoma 9.9
50 hepatoblastoma 9.9

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:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
8 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
9 abnormality of the helix 59 32 frequent (33%) Frequent (79-30%) HP:0011039
10 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
11 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
12 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
13 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
14 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
15 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
16 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
17 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
18 hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100790
19 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
20 patent ductus arteriosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001643
21 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
22 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
23 hydrops fetalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001789
24 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
25 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
26 cystic hygroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000476
27 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
28 abnormality of the retinal vasculature 59 32 frequent (33%) Frequent (79-30%) HP:0008046
29 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
30 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
31 arnold-chiari malformation 59 32 frequent (33%) Frequent (79-30%) HP:0002308
32 abnormality of the antihelix 59 32 frequent (33%) Frequent (79-30%) HP:0009738
33 multiple renal cysts 59 32 frequent (33%) Frequent (79-30%) HP:0005562
34 abnormality of the fontanelles or cranial sutures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000235
35 bilateral single transverse palmar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0007598
36 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
37 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
38 abnormality of pelvic girdle bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002644
39 aplasia/hypoplasia of the iris 59 32 frequent (33%) Frequent (79-30%) HP:0008053
40 hypotelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000601
41 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
42 preauricular skin tag 59 32 frequent (33%) Frequent (79-30%) HP:0000384
43 abnormality of the ureter 59 32 frequent (33%) Frequent (79-30%) HP:0000069
44 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
45 displacement of the external urethral meatus 59 32 frequent (33%) Frequent (79-30%) HP:0100627
46 preauricular pit 59 32 frequent (33%) Frequent (79-30%) HP:0004467
47 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
48 anophthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000528
49 abnormality of female internal genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000008
50 abnormality of the middle ear 59 32 frequent (33%) Frequent (79-30%) HP:0000370

MGI Mouse Phenotypes related to Patau Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 AGO2 NODAL OFD1 PGF TMEM67 ZIC2
2 craniofacial MP:0005382 9.65 NODAL OFD1 SIX3 TMEM67 ZIC2
3 digestive/alimentary MP:0005381 9.55 NODAL OFD1 SIX3 TMEM67 ZIC2
4 embryo MP:0005380 9.5 AGO2 NODAL OFD1 PGF SIX3 TMEM67
5 mortality/aging MP:0010768 9.23 AFP AGO2 NODAL OFD1 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 25)
# 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 Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood Completed NCT01925742 Not Applicable
4 High Risk Multiple Gestation Study Completed NCT02278874
5 Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA Centaur PAPPA and BhCG Assays Completed NCT03629795
6 MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy Completed NCT01122524
7 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
8 A New Prenatal Blood Test for Down Syndrome Completed NCT00877292
9 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
10 Prenatal Screening for Down Syndrome With DNAFirst Completed NCT01966991
11 Comparison of Aneuploidy Risk Evaluations Completed NCT01663350
12 Non-invasive Prenatal Diagnostic Validation Study Completed NCT01574781
13 Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies Recruiting NCT03200041 Not Applicable
14 Multiple Gestation Study Recruiting NCT02278536
15 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
16 Ensuring Patients' Informed Access to Noninvasive Prenatal Testing Recruiting NCT03420274 Not Applicable
17 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Recruiting NCT03680651
18 Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
19 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
20 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
21 Biobank on Prematurity, Preeclampsia and Other Pregnancy Complications Recruiting NCT02744365
22 Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial Active, not recruiting NCT01545674
23 VAlidation of a Lower Cost aneUploidy scrEen Enrolling by invitation NCT03087357
24 Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13) Enrolling by invitation NCT03559374
25 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 29

Anatomical Context for Patau Syndrome

MalaCards organs/tissues related to Patau Syndrome:

41
Eye, Heart, Testes, Brain, Spinal Cord, Myeloid, Bone

Publications for Patau Syndrome

Articles related to Patau Syndrome:

(show top 50) (show all 422)
# Title Authors Year
1
Mirror Syndrome assocciated with Patau Syndrome: A Case Report. ( 29768639 )
2018
2
Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease. ( 30291384 )
2018
3
Role of Overexpressed Transcription Factor FOXO1 in Fatal Cardiovascular Septal Defects in Patau Syndrome: Molecular and Therapeutic Strategies. ( 30423812 )
2018
4
Colon Cancer in an Adult with Trisomy 13. ( 30454509 )
2018
5
Neuroradiological findings of trisomy 13 in a rare long-term survivor. ( 28195512 )
2018
6
Trisomy 13 and the risk of gestational hypertensive disorders: a population-based study. ( 28514881 )
2018
7
Obstetric practice patterns in pregnancies complicated by fetal trisomy 13 or 18. ( 28629247 )
2018
8
Nuclear Projections in Neutrophils for Supporting the Diagnosis of Trisomy 13. ( 28747288 )
2018
9
Factors Influencing Outcomes After Cardiac Intervention in Infants with Trisomy 13 and 18. ( 28948390 )
2018
10
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
11
Adenocarcinoma and polyposis of the colon in a 20-year-old patient with Trisomy 13: a case report. ( 29501064 )
2018
12
Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed clinical observation. ( 29681109 )
2018
13
Concerns About the Study "Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18". ( 29712761 )
2018
14
Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18. ( 29740195 )
2018
15
Management options and parental voice in the treatment of trisomy 13 and 18. ( 29977011 )
2018
16
50 Years Ago in The Journal of Pediatrics: Trisomy 13 (D1) Syndrome: Studies on Parental Age, Sex Ratio, and Survival. ( 30049403 )
2018
17
Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment. ( 30152146 )
2018
18
An 8-week-old infant with trisomy 13: dilemmas for medical decision making. ( 30263999 )
2018
19
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses. ( 30328679 )
2018
20
Congenital Heart Surgical Admissions in Patients with Trisomy 13 and 18: Frequency, Morbidity, and Mortality. ( 30556105 )
2018
21
A tumor profile in Patau syndrome (trisomy 13). ( 28544599 )
2017
22
Surviving with trisomy 13: Provider and parent perspectives and the role of the pediatric palliative care program. ( 28019075 )
2017
23
Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18. ( 28079873 )
2017
24
Shared Decision Making for Children With Trisomy 13 and 18. ( 28192544 )
2017
25
Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review. ( 28192554 )
2017
26
The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options. ( 28266126 )
2017
27
Trisomy 13 with prenatally diagnosed congenital cystic adenomatoid malformation and hernia of the umbilical cord: A case report. ( 28285557 )
2017
28
Transitions in Care for Infants with Trisomy 13 or 18. ( 28301894 )
2017
29
Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. ( 28328132 )
2017
30
Treatment Decisions for Babies with Trisomy 13 and 18. ( 28365826 )
2017
31
Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature. ( 28394407 )
2017
32
Long-Term Outcomes of Children With Trisomy 13 and 18 After Congenital Heart Disease Interventions. ( 28456396 )
2017
33
"You Can Carry the Torch Now:" A Qualitative Analysis of Parents' Experiences Caring for a Child with Trisomy 13 or 18. ( 28550383 )
2017
34
Trisomy 13-confined placental mosaicism: is there an increased risk of gestational hypertensive disorders? ( 28671725 )
2017
35
Monozygotic Twins Discordant for Trisomy 13: A Case of Trisomic Rescue Supporting the Continued Need for First-Trimester Ultrasound. ( 28727976 )
2017
36
Next-generation Sequencing and Karyotype Analysis for the Diagnosis of Robertsonian Translocation Type Trisomy 13: A Case Report. ( 28828329 )
2017
37
Factors related to home health-care transition in trisomy 13. ( 28856870 )
2017
38
The Anesthetic Management for a Patient With Trisomy 13. ( 28858551 )
2017
39
Trisomy 13 by robertsonian translocation rob (13;13)(q10;q10) +13: about one case. ( 29043983 )
2017
40
Trisomy 13 and 18: Cardiac Surgery Makes Sense if It Is Part of a Comprehensive Care Strategy. ( 29046385 )
2017
41
Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18. ( 29046387 )
2017
42
Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development. ( 29220612 )
2017
43
Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome. ( 29241931 )
2017
44
Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome. ( 27490343 )
2016
45
Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report. ( 27134897 )
2016
46
Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex. ( 27117469 )
2016
47
Sequential integrated antenatal screening for Down's syndrome, trisomy 18 and trisomy 13. ( 26498068 )
2016
48
Oral health needs in individuals with trisomy 18 and trisomy 13: Implications for dental professionals. ( 26585493 )
2016
49
New osseous soft markers for trisomy 13, 18 and 21. ( 26620204 )
2016
50
Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study. ( 26663415 )
2016

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 SMAD protein signal transduction GO:0060395 9.16 AFP NODAL
2 brain development GO:0007420 9.13 NODAL SIX3 ZIC2
3 positive regulation of angiogenesis GO:0045766 8.8 AGO2 NODAL PGF

Sources for Patau Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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