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 76 53 25 59 37 15 73
Trisomy 13 12 53 25 59
Complete Trisomy 13 Syndrome 53 25 29
Patau's Syndrome 12 25
Chromosome 13, Trisomy 13 Complete 53
Chromosome 13 Duplication 73
Bartholin-Patau Syndrome 25
Trisomy 13 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 patau syndrome trisomy 13. An important gene associated with Patau Syndrome is NODAL (Nodal Growth Differentiation Factor). The drugs Aspirin and Menthol have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and brain, and related phenotypes are abnormality of female internal genitalia and cryptorchidism

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 all 34)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome viii 31.9 AFP AGO2
2 patau syndrome trisomy 13 12.3
3 pseudotrisomy 13 syndrome 11.1
4 mosaic trisomy 13 10.6
5 ovarian embryonal carcinoma 10.5 AFP NODAL
6 cystic lymphangioma 10.5 AFP NODAL
7 down syndrome 10.1
8 oligohydramnios 10.1 AFP TMEM67
9 chromosomal disease 10.0 AFP UROD
10 diaphragmatic hernia, congenital 9.8
11 tetralogy of fallot 9.8
12 glaucoma 3, primary congenital, a 9.8
13 aging 9.8
14 glaucoma 3, primary infantile, b 9.8
15 craniosynostosis 9.8
16 primary congenital glaucoma 9.8
17 photosensitive epilepsy 9.8
18 gonadal dysgenesis 9.8
19 epilepsy 9.8
20 turner syndrome 9.8
21 dyskinetic cerebral palsy 9.7 AFP SIX3
22 chromosomal triplication 9.7
23 polycystic kidney disease 4 with or without polycystic liver disease 9.5 OFD1 TMEM67
24 congenital nervous system abnormality 9.5 NODAL SIX3 ZIC2
25 anencephaly 9.3 AFP SIX3
26 chromosome 18p deletion syndrome 9.2 AGO2 NODAL SIX3 ZIC2
27 physical disorder 9.2 AFP NODAL SIX3 ZIC2
28 septopreoptic holoprosencephaly 9.0 DISP1 NODAL SIX3 ZIC2
29 midline interhemispheric variant of holoprosencephaly 9.0 DISP1 NODAL SIX3 ZIC2
30 alobar holoprosencephaly 9.0 DISP1 NODAL SIX3 ZIC2
31 lobar holoprosencephaly 9.0 DISP1 NODAL SIX3 ZIC2
32 microform holoprosencephaly 8.9 DISP1 NODAL SIX3 ZIC2
33 semilobar holoprosencephaly 8.9 DISP1 NODAL SIX3 ZIC2
34 holoprosencephaly 8.9 DISP1 NODAL 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:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of female internal genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000008
2 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
3 abnormality of the ureter 59 32 frequent (33%) Frequent (79-30%) HP:0000069
4 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
5 median cleft lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000161
6 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
7 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
8 abnormality of the fontanelles or cranial sutures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000235
9 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
10 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
11 preauricular skin tag 59 32 frequent (33%) Frequent (79-30%) HP:0000384
12 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
13 cystic hygroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000476
14 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
15 abnormality of the eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000499
16 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
17 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
18 anophthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000528
19 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
20 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
21 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
22 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
23 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
24 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
25 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
26 hydrops fetalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001789
27 abnormal lung lobation 59 32 frequent (33%) Frequent (79-30%) HP:0002101
28 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
29 arnold-chiari malformation 59 32 frequent (33%) Frequent (79-30%) HP:0002308
30 abnormality of pelvic girdle bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002644
31 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
32 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
33 preauricular pit 59 32 frequent (33%) Frequent (79-30%) HP:0004467
34 bilateral single transverse palmar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0007598
35 abnormality of the retinal vasculature 59 32 frequent (33%) Frequent (79-30%) HP:0008046
36 aplasia/hypoplasia of the iris 59 32 frequent (33%) Frequent (79-30%) HP:0008053
37 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
38 ectrodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0100257
39 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
40 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
41 abnormality of the middle ear 59 32 frequent (33%) Frequent (79-30%) HP:0000370
42 hypotelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000601
43 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
44 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
45 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
46 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
47 patent ductus arteriosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001643
48 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
49 multiple renal cysts 59 32 frequent (33%) Frequent (79-30%) HP:0005562
50 abnormality of the antihelix 59 32 frequent (33%) Frequent (79-30%) HP:0009738

MGI Mouse Phenotypes related to Patau Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.88 ZIC2 NODAL OFD1 AGO2 TMEM67 DISP1
2 craniofacial MP:0005382 9.85 OFD1 SIX3 TMEM67 DISP1 ZIC2 NODAL
3 mortality/aging MP:0010768 9.81 OFD1 AFP SIX3 AGO2 TMEM67 DISP1
4 digestive/alimentary MP:0005381 9.8 OFD1 SIX3 TMEM67 DISP1 ZIC2 NODAL
5 embryo MP:0005380 9.8 OFD1 SIX3 AGO2 TMEM67 DISP1 ZIC2
6 nervous system MP:0003631 9.5 ZIC2 NODAL OFD1 SIX3 AGO2 TMEM67
7 skeleton MP:0005390 9.1 NODAL OFD1 SIX3 TMEM67 DISP1 ZIC2

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
Menthol Approved 2216-51-5 16666

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
2 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Unknown status NCT02787486
3 Non-Invasive Chromosomal Evaluation of Trisomy Study Unknown status NCT02201862
4 Whole Blood Specimen Collection From Pregnant Subjects Unknown status NCT02430584
5 Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood Completed NCT01925742 Not Applicable
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 Prenatal Screening for Down Syndrome With DNAFirst Completed NCT01966991
10 Comparison of Aneuploidy Risk Evaluations Completed NCT01663350
11 Non-invasive Prenatal Diagnostic Validation Study Completed NCT01574781
12 Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies Recruiting NCT03200041 Not Applicable
13 High Risk Multiple Gestation Study Recruiting NCT02278874
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 Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
18 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
19 Biobank on Prematurity, Preeclampsia and Other Pregnancy Complications Recruiting NCT02744365
20 Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial Active, not recruiting NCT01545674
21 VAlidation of a Lower Cost aneUploidy scrEen Enrolling by invitation NCT03087357
22 Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13) Enrolling by invitation NCT03559374
23 Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies Terminated NCT02226315

Search NIH Clinical Center for Patau 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, Brain, Spinal Cord, Testes, Skin, Lung

Publications for Patau Syndrome

Articles related to Patau Syndrome:

(show all 42)
# Title Authors Year
1
Mirror Syndrome assocciated with Patau Syndrome: A Case Report. ( 29768639 )
2018
2
A tumor profile in Patau syndrome (trisomy 13). ( 28544599 )
2017
3
Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome. ( 27490343 )
2016
4
Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report. ( 27134897 )
2016
5
Congenital diaphragmatic hernia in a case of patau syndrome: a rare association. ( 26034714 )
2015
6
Detection of fetal cell-free DNA in maternal plasma for Down syndrome, Edward syndrome and Patau syndrome of high risk fetus. ( 26309618 )
2015
7
Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study. ( 25459971 )
2014
8
Trisomy 13 (Patau syndrome) and congenital heart defects. ( 24214527 )
2014
9
Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. ( 25593701 )
2014
10
Trisomy 13 (Patau syndrome) with tetralogy of Fallot--to treat or not to treat? ( 24461962 )
2014
11
An interesting coexistence of Patau syndrome; Spigelian hernia and undescended testes. ( 25059026 )
2014
12
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. ( 23613355 )
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
Phenotypic variability in Patau syndrome. ( 24340511 )
2013
16
First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free I^-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome. ( 24381414 )
2013
17
Longevity and Patau syndrome: what determines survival? ( 23220825 )
2012
18
Trisomy 13 (Patau syndrome) and craniosynostosis. ( 21739580 )
2011
19
Extensive comedonal and cystic acne in Patau syndrome. ( 20537076 )
2010
20
Primary congenital glaucoma associated with Patau syndrome with long survival. ( 21080618 )
2010
21
Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. ( 21977150 )
2010
22
Patau syndrome with long survival in a case of unusual mosaic trisomy 13. ( 18495567 )
2008
23
Patau syndrome. ( 17431076 )
2007
24
Dorsal dimelia in patau syndrome: a case report. ( 17950216 )
2007
25
Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. ( 17603803 )
2007
26
Patau syndrome with a long survival (146 months): a clinical report and review of literature. ( 16333832 )
2006
27
Patau syndrome and perinatal decision making. ( 23249587 )
2005
28
Patau syndrome with a long survival. A case report. ( 15266400 )
2004
29
Long-term survival in Patau syndrome. ( 11310997 )
2001
30
[Pediatric home care nursing of an infant with trisomy 13 (Patau syndrome)]. ( 14584130 )
2001
31
Trisomy 13 (Patau syndrome). ( 11042720 )
2000
32
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
33
[Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)]. ( 9047985 )
1996
34
Trisomy 13 (Patau syndrome) with an 11-year survival. ( 8462196 )
1993
35
Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome). ( 2348978 )
1990
36
Trisomy 13 (Patau) syndrome in Delaware. ( 4076474 )
1985
37
Origin of extra chromosome in Patau syndrome. ( 6500580 )
1984
38
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
39
Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13). ( 6965845 )
1980
40
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
41
Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome. ( 7224090 )
1980
42
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:

# 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 embryonic pattern specification GO:0009880 8.62 DISP1 NODAL

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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