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 72 49 24 55 36 14 69
Trisomy 13 12 49 24 55
Complete Trisomy 13 Syndrome 49 24 28
Patau's Syndrome 12 24
Chromosome 13, Trisomy 13 Complete 49
Chromosome 13 Duplication 69
Bartholin-Patau Syndrome 24
Trisomy 13 Syndrome 24
D1 Trisomy 12

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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. Last updated: 3/17/2016

MalaCards based summary : Patau Syndrome, also known as trisomy 13, is related to orofaciodigital syndrome viii and patau syndrome trisomy 13, and has symptoms including abnormality of female internal genitalia, cryptorchidism and abnormality of the ureter. An important gene associated with Patau Syndrome is NODAL (Nodal Growth Differentiation Factor). The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include eye, heart and brain, and related phenotypes are craniofacial and digestive/alimentary

Genetics Home Reference : 24 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 : 72 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 36)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome viii 31.7 AFP AGO2
2 patau syndrome trisomy 13 12.1
3 pseudotrisomy 13 syndrome 11.1
4 mosaic trisomy 13 10.6
5 ovarian embryonal carcinoma 10.3 AFP NODAL
6 cystic lymphangioma 10.3 AFP NODAL
7 botryoid rhabdomyosarcoma 10.2 AFP AGO2
8 down syndrome 10.1
9 chromosomal disease 9.9 AFP UROD
10 dyskinetic cerebral palsy 9.8 AFP SIX3
11 hydrolethalus syndrome 1 9.8 AFP OFD1 TMEM67
12 polycystic kidney disease 4 with or without hepatic disease 9.8 OFD1 TMEM67
13 diaphragmatic hernia, congenital 9.8
14 tetralogy of fallot 9.8
15 glaucoma 3, primary congenital, a 9.8
16 aging 9.8
17 glaucoma 3, primary infantile, b 9.8
18 craniosynostosis 9.8
19 primary congenital glaucoma 9.8
20 photosensitive epilepsy 9.8
21 heart disease 9.8
22 gonadal dysgenesis 9.8
23 epilepsy 9.8
24 turner syndrome 9.8
25 septopreoptic holoprosencephaly 9.7 NODAL SIX3 ZIC2
26 midline interhemispheric variant of holoprosencephaly 9.7 NODAL SIX3 ZIC2
27 microform holoprosencephaly 9.7 NODAL SIX3 ZIC2
28 alobar holoprosencephaly 9.7 NODAL SIX3 ZIC2
29 lobar holoprosencephaly 9.7 NODAL SIX3 ZIC2
30 semilobar holoprosencephaly 9.7 NODAL SIX3 ZIC2
31 chromosomal triplication 9.7
32 congenital nervous system abnormality 9.7 NODAL SIX3 ZIC2
33 holoprosencephaly 9.7 NODAL SIX3 ZIC2
34 anencephaly 9.5 AFP SIX3
35 physical disorder 9.5 AFP NODAL SIX3 ZIC2
36 chromosome 18p deletion syndrome 9.5 AGO2 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:

55 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of female internal genitalia 55 31 frequent (33%) Frequent (79-30%) HP:0000008
2 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
3 abnormality of the ureter 55 31 frequent (33%) Frequent (79-30%) HP:0000069
4 hydronephrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000126
5 median cleft lip 55 31 hallmark (90%) Very frequent (99-80%) HP:0000161
6 abnormality of the dentition 55 31 frequent (33%) Frequent (79-30%) HP:0000164
7 cleft palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000175
8 abnormality of the fontanelles or cranial sutures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000235
9 long philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000343
10 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
11 preauricular skin tag 55 31 frequent (33%) Frequent (79-30%) HP:0000384
12 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
13 cystic hygroma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000476
14 deeply set eye 55 31 frequent (33%) Frequent (79-30%) HP:0000490
15 abnormality of the eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0000499
16 abnormality of vision 55 31 frequent (33%) Frequent (79-30%) HP:0000504
17 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
18 anophthalmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000528
19 microphthalmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000568
20 iris coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000612
21 optic atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0000648
22 narrow chest 55 31 frequent (33%) Frequent (79-30%) HP:0000774
23 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
24 ventricular septal defect 55 31 hallmark (90%) Very frequent (99-80%) HP:0001629
25 atrial septal defect 55 31 hallmark (90%) Very frequent (99-80%) HP:0001631
26 hydrops fetalis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001789
27 abnormal lung lobation 55 31 frequent (33%) Frequent (79-30%) HP:0002101
28 neurological speech impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002167
29 arnold-chiari malformation 55 31 frequent (33%) Frequent (79-30%) HP:0002308
30 abnormality of pelvic girdle bone morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0002644
31 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
32 high, narrow palate 55 31 frequent (33%) Frequent (79-30%) HP:0002705
33 preauricular pit 55 31 frequent (33%) Frequent (79-30%) HP:0004467
34 bilateral single transverse palmar creases 55 31 hallmark (90%) Very frequent (99-80%) HP:0007598
35 abnormality of the retinal vasculature 55 31 frequent (33%) Frequent (79-30%) HP:0008046
36 aplasia/hypoplasia of the iris 55 31 frequent (33%) Frequent (79-30%) HP:0008053
37 severe global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011344
38 ectrodactyly 55 31 frequent (33%) Frequent (79-30%) HP:0100257
39 cognitive impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0100543
40 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
41 abnormality of the middle ear 55 31 frequent (33%) Frequent (79-30%) HP:0000370
42 hypotelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000601
43 abnormality of the ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000772
44 postaxial hand polydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001162
45 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
46 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
47 patent ductus arteriosus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001643
48 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
49 capillary hemangiomas 55 31 frequent (33%) Frequent (79-30%) HP:0005306
50 multiple renal cysts 55 31 frequent (33%) Frequent (79-30%) HP:0005562

MGI Mouse Phenotypes related to Patau Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.65 NODAL OFD1 SIX3 TMEM67 ZIC2
2 digestive/alimentary MP:0005381 9.55 NODAL OFD1 SIX3 TMEM67 ZIC2
3 embryo MP:0005380 9.43 NODAL OFD1 SIX3 TMEM67 ZIC2 AGO2
4 mortality/aging MP:0010768 9.23 AGO2 NODAL OFD1 SIX3 TMEM67 UROD

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
Menthol Approved 2216-51-5 16666

Interventional clinical trials:

(show all 21)

# Name Status NCT ID Phase Drugs
1 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
2 Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood Completed NCT01925742
3 MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy Completed NCT01122524
4 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
5 A New Prenatal Blood Test for Down Syndrome Completed NCT00877292
6 Prenatal Screening for Down Syndrome With DNAFirst Completed NCT01966991
7 Comparison of Aneuploidy Risk Evaluations Completed NCT01663350
8 Non-invasive Prenatal Diagnostic Validation Study Completed NCT01574781
9 Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies Recruiting NCT03200041
10 High Risk Multiple Gestation Study Recruiting NCT02278874
11 Multiple Gestation Study Recruiting NCT02278536
12 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
13 Ensuring Patients' Informed Access to Noninvasive Prenatal Testing Recruiting NCT03420274
14 Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
15 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Recruiting NCT02787486
16 Non-Invasive Chromosomal Evaluation of Trisomy Study Recruiting NCT02201862
17 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
18 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
19 Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial Active, not recruiting NCT01545674
20 VAlidation of a Lower Cost aneUploidy scrEen Enrolling by invitation NCT03087357
21 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 28

Anatomical Context for Patau Syndrome

MalaCards organs/tissues related to Patau Syndrome:

38
Eye, Heart, Brain, Spinal Cord, Testes, Skin, Lung

Publications for Patau Syndrome

Articles related to Patau Syndrome:

(show all 40)
# Title Authors Year
1
A tumor profile in Patau syndrome (trisomy 13). ( 28544599 )
2017
2
Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome. ( 27490343 )
2016
3
Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report. ( 27134897 )
2016
4
Congenital diaphragmatic hernia in a case of patau syndrome: a rare association. ( 26034714 )
2015
5
Detection of fetal cell-free DNA in maternal plasma for Down syndrome, Edward syndrome and Patau syndrome of high risk fetus. ( 26309618 )
2015
6
An interesting coexistence of Patau syndrome; Spigelian hernia and undescended testes. ( 25059026 )
2014
7
Trisomy 13 (Patau syndrome) and congenital heart defects. ( 24214527 )
2014
8
Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study. ( 25459971 )
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
Gestational, perinatal and family findings of patients with Patau syndrome. ( 24473950 )
2013
12
Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. ( 23949924 )
2013
13
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. ( 23613355 )
2013
14
First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free I^-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome. ( 24381414 )
2013
15
Phenotypic variability in Patau syndrome. ( 24340511 )
2013
16
Longevity and Patau syndrome: what determines survival? ( 23220825 )
2012
17
Trisomy 13 (Patau syndrome) and craniosynostosis. ( 21739580 )
2011
18
Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. ( 21977150 )
2010
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
Patau syndrome with long survival in a case of unusual mosaic trisomy 13. ( 18495567 )
2008
22
Dorsal dimelia in patau syndrome: a case report. ( 17950216 )
2007
23
Patau syndrome. ( 17431076 )
2007
24
Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. ( 17603803 )
2007
25
Patau syndrome with a long survival (146 months): a clinical report and review of literature. ( 16333832 )
2006
26
Patau syndrome and perinatal decision making. ( 23249587 )
2005
27
Patau syndrome with a long survival. A case report. ( 15266400 )
2004
28
Long-term survival in Patau syndrome. ( 11310997 )
2001
29
Trisomy 13 (Patau syndrome). ( 11042720 )
2000
30
[Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)]. ( 9047985 )
1996
31
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
32
Trisomy 13 (Patau syndrome) with an 11-year survival. ( 8462196 )
1993
33
Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome). ( 2348978 )
1990
34
Trisomy 13 (Patau) syndrome in Delaware. ( 4076474 )
1985
35
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
36
Origin of extra chromosome in Patau syndrome. ( 6500580 )
1984
37
Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome. ( 7224090 )
1980
38
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
39
Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13). ( 6965845 )
1980
40
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 8.96 AFP NODAL
2 brain development GO:0007420 8.8 NODAL SIX3 ZIC2

Sources for Patau Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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