MCID: PTS001
MIFTS: 49

Patau Syndrome malady

Categories: Rare diseases, Genetic diseases, Eye diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Patau Syndrome

Aliases & Descriptions for Patau Syndrome:

Name: Patau Syndrome 12 71 50 25 56 14 69
Trisomy 13 12 50 25 56
Complete Trisomy 13 Syndrome 50 25 29
Trisomy 13 Syndrome 25 42
Patau's Syndrome 12 25
Chromosome 13, Trisomy 13 Complete 50
Chromosome 13 Duplication 69
Bartholin-Patau Syndrome 25
D1 Trisomy 12

Characteristics:

Orphanet epidemiological data:

56
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:



External Ids:

Disease Ontology 12 DOID:11665
ICD10 33 Q91.7
ICD9CM 35 758.1
MeSH 42 C536305
NCIt 47 C101223
Orphanet 56 ORPHA3378
UMLS via Orphanet 70 C2936830
ICD10 via Orphanet 34 Q91.4 Q91.5 Q91.6 more
UMLS 69 C0152095

Summaries for Patau Syndrome

NIH Rare Diseases : 50 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 pseudotrisomy 13 syndrome and mosaic trisomy 13, and has symptoms including seizures, malar flattening and low-set ears. An important gene associated with Patau Syndrome is NODAL (Nodal Growth Differentiation Factor). The drugs rituximab and Folic Acid have 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 : 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 : 71 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)
id Related Disease Score Top Affiliating Genes
1 pseudotrisomy 13 syndrome 11.0
2 mosaic trisomy 13 10.5
3 orofaciodigital syndrome viii 10.3
4 pediatric liposarcoma 10.2 AFP NODAL
5 granulomatous orchitis 10.2 AFP NODAL
6 mental retardation, autosomal dominant 26 10.1 AGO2 FPR1
7 down syndrome 10.1
8 spindle cell rhabdomyosarcoma 10.0 AFP AGO2
9 cervical adenitis 10.0 NODAL SIX3
10 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency 9.9 AFP AGO2 FPR1 LGALS13
11 craniofaciofrontodigital syndrome 9.9 AFP SIX3
12 primary oculocerebral lymphoma 9.9 NODAL SIX3 ZIC2
13 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 9.9 AFP OFD1 TMEM67
14 late-onset nephronophthisis 9.9 NODAL SIX3 ZIC2
15 antenatal bartter syndrome 9.9 NODAL SIX3 ZIC2
16 familial infantile bilateral striatal necrosis 9.9 NODAL SIX3 ZIC2
17 atypical hemolytic-uremic syndrome with h factor anomaly 9.9 NODAL SIX3 ZIC2
18 glaucoma 1, open angle, f 9.9 NODAL SIX3 ZIC2
19 small cell carcinoma 9.9 AFP SIX3
20 angiodysplasia 9.9 NODAL SIX3 ZIC2
21 hypoplastic left heart syndrome 9.9 NODAL SIX3 ZIC2
22 fibrous dysplasia 9.8 AFP NODAL SIX3 ZIC2
23 major affective disorder 1 9.8 AGO2 NODAL SIX3 ZIC2
24 tetralogy of fallot 9.7
25 acne 9.7
26 craniosynostosis 9.7
27 photosensitive epilepsy 9.7
28 gonadal dysgenesis 9.7
29 epilepsy 9.7
30 turner syndrome 9.7
31 congenital diaphragmatic hernia 9.7
32 primary congenital glaucoma 9.7
33 chromosomal triplication 9.6
34 hypotrichosis of eyelid 8.5 AFP AGO2 CLIC2 FPR1 LGALS13 NODAL

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:

56 32 (show top 50) (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Very frequent (99-80%) HP:0001250
2 malar flattening 56 32 Very frequent (99-80%) HP:0000272
3 low-set ears 56 32 Very frequent (99-80%) HP:0000369
4 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
5 neurological speech impairment 56 32 Very frequent (99-80%) HP:0002167
6 scoliosis 56 32 Frequent (79-30%) HP:0002650
7 kyphosis 56 32 Frequent (79-30%) HP:0002808
8 cataract 56 32 Frequent (79-30%) HP:0000518
9 abnormality of the helix 56 32 Frequent (79-30%) HP:0011039
10 abnormality of the teeth 56 32 Frequent (79-30%) HP:0000164
11 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
12 optic atrophy 56 32 Frequent (79-30%) HP:0000648
13 cognitive impairment 56 32 Very frequent (99-80%) HP:0100543
14 abnormality of vision 56 32 Frequent (79-30%) HP:0000504
15 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
16 cleft palate 56 32 Very frequent (99-80%) HP:0000175
17 long philtrum 56 32 Frequent (79-30%) HP:0000343
18 hernia 56 32 Frequent (79-30%) HP:0100790
19 narrow chest 56 32 Frequent (79-30%) HP:0000774
20 patent ductus arteriosus 56 32 Very frequent (99-80%) HP:0001643
21 severe global developmental delay 56 32 Very frequent (99-80%) HP:0011344
22 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
23 hydrops fetalis 56 32 Very frequent (99-80%) HP:0001789
24 high, narrow palate 56 32 Frequent (79-30%) HP:0002705
25 cystic hygroma 56 32 Very frequent (99-80%) HP:0000476
26 abnormality of the eyelashes 56 32 Frequent (79-30%) HP:0000499
27 abnormality of the retinal vasculature 56 32 Frequent (79-30%) HP:0008046
28 microphthalmia 56 32 Very frequent (99-80%) HP:0000568
29 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
30 deeply set eye 56 32 Frequent (79-30%) HP:0000490
31 arnold-chiari malformation 56 32 Frequent (79-30%) HP:0002308
32 abnormality of the antihelix 56 32 Frequent (79-30%) HP:0009738
33 capillary hemangiomas 56 32 Frequent (79-30%) HP:0005306
34 multiple renal cysts 56 32 Frequent (79-30%) HP:0005562
35 abnormality of the fontanelles or cranial sutures 56 32 Very frequent (99-80%) HP:0000235
36 bilateral single transverse palmar creases 56 32 Very frequent (99-80%) HP:0007598
37 ventricular septal defect 56 32 Very frequent (99-80%) HP:0001629
38 abnormality of the ribs 56 32 Frequent (79-30%) HP:0000772
39 abnormality of pelvic girdle bone morphology 56 32 Very frequent (99-80%) HP:0002644
40 aplasia/hypoplasia of the iris 56 32 Frequent (79-30%) HP:0008053
41 hypotelorism 56 32 Very frequent (99-80%) HP:0000601
42 iris coloboma 56 32 Frequent (79-30%) HP:0000612
43 preauricular skin tag 56 32 Frequent (79-30%) HP:0000384
44 abnormality of the ureter 56 32 Frequent (79-30%) HP:0000069
45 hydronephrosis 56 32 Frequent (79-30%) HP:0000126
46 displacement of the external urethral meatus 56 32 Frequent (79-30%) HP:0100627
47 preauricular pit 56 32 Frequent (79-30%) HP:0004467
48 postaxial hand polydactyly 56 32 Very frequent (99-80%) HP:0001162
49 anophthalmia 56 32 Very frequent (99-80%) HP:0000528
50 abnormality of female internal genitalia 56 32 Frequent (79-30%) HP:0000008

MGI Mouse Phenotypes related to Patau Syndrome:

44
id 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 AGO2 NODAL OFD1 SIX3 TMEM67 ZIC2
4 mortality/aging MP:0010768 9.28 AFP AGO2 FPR1 NODAL OFD1 SIX3

Drugs & Therapeutics for Patau Syndrome

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

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 3 174722-31-7 10201696
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
4 Hematinics Phase 3
5 Micronutrients Phase 3
6 Trace Elements Phase 3
7 Vitamin B Complex Phase 3
8 Vitamins Phase 3
9 Antirheumatic Agents Phase 3
10 Folate Nutraceutical Phase 3
11 Vitamin B9 Nutraceutical Phase 3
12
Menthol Approved 2216-51-5 16666
13 Mitogens

Interventional clinical trials:

(show all 25)
id Name Status NCT ID Phase
1 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3
2 Rituximab Versus Observation as Maintenance Therapy in Chronic Lymphocytic Leukemia (Chronic Lymphocytic Leukemia) Active, not recruiting NCT01118234 Phase 3
3 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
4 MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy Completed NCT01122524
5 A New Prenatal Blood Test for Down Syndrome Completed NCT00877292
6 Prenatal Screening for Down Syndrome With DNAFirst Completed NCT01966991
7 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
8 Comparison of Aneuploidy Risk Evaluations Completed NCT01663350
9 Non-invasive Prenatal Diagnostic Validation Study Completed NCT01574781
10 Multiple Gestation Study Recruiting NCT02278536
11 High Risk Multiple Gestation Study Recruiting NCT02278874
12 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
13 Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
14 Non-Invasive Chromosomal Evaluation of Trisomy Study Recruiting NCT02201862
15 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Recruiting NCT02787486
16 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
17 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
18 A Safer Pre-Natal Diagnosis Using Free DNA in Maternal Blood Recruiting NCT01472523
19 Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood Active, not recruiting NCT01925742
20 Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial Active, not recruiting NCT01545674
21 T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk Patients Active, not recruiting NCT02424474
22 VAlidation of a Lower Cost aneUploidy scrEen Not yet recruiting NCT03087357
23 DS-Connect {TM}: The Down Syndrome Registry Suspended NCT01950624
24 Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies Terminated NCT02226315
25 Detecting Early Onset Pre-eclampsia and Use of Placental Growth Factor (PlGF) for Marker of Trisomy 21 Terminated NCT01387776

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:

id Genetic test Affiliating Genes
1 Complete Trisomy 13 Syndrome 29

Anatomical Context for Patau Syndrome

MalaCards organs/tissues related to Patau Syndrome:

39
Eye, Heart, Brain, Spinal Cord, Lung, Bone, Skin

Publications for Patau Syndrome

Articles related to Patau Syndrome:

(show all 39)
id Title Authors Year
1
Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome. ( 27490343 )
2016
2
Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report. ( 27134897 )
2016
3
Congenital diaphragmatic hernia in a case of patau syndrome: a rare association. ( 26034714 )
2015
4
Detection of fetal cell-free DNA in maternal plasma for Down syndrome, Edward syndrome and Patau syndrome of high risk fetus. ( 26309618 )
2015
5
Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study. ( 25459971 )
2014
6
An interesting coexistence of Patau syndrome; Spigelian hernia and undescended testes. ( 25059026 )
2014
7
Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. ( 25593701 )
2014
8
Trisomy 13 (Patau syndrome) with tetralogy of Fallot--to treat or not to treat? ( 24461962 )
2014
9
Trisomy 13 (Patau syndrome) and congenital heart defects. ( 24214527 )
2014
10
First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free I^-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome. ( 24381414 )
2013
11
Phenotypic variability in Patau syndrome. ( 24340511 )
2013
12
Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. ( 23949924 )
2013
13
Gestational, perinatal and family findings of patients with Patau syndrome. ( 24473950 )
2013
14
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. ( 23613355 )
2013
15
Longevity and Patau syndrome: what determines survival? ( 23220825 )
2012
16
Trisomy 13 (Patau syndrome) and craniosynostosis. ( 21739580 )
2011
17
Extensive comedonal and cystic acne in Patau syndrome. ( 20537076 )
2010
18
Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. ( 21977150 )
2010
19
Primary congenital glaucoma associated with Patau syndrome with long survival. ( 21080618 )
2010
20
Patau syndrome with long survival in a case of unusual mosaic trisomy 13. ( 18495567 )
2008
21
Dorsal dimelia in patau syndrome: a case report. ( 17950216 )
2007
22
Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. ( 17603803 )
2007
23
Patau syndrome. ( 17431076 )
2007
24
Patau syndrome with a long survival (146 months): a clinical report and review of literature. ( 16333832 )
2006
25
Patau syndrome and perinatal decision making. ( 23249587 )
2005
26
Patau syndrome with a long survival. A case report. ( 15266400 )
2004
27
Long-term survival in Patau syndrome. ( 11310997 )
2001
28
Trisomy 13 (Patau syndrome). ( 11042720 )
2000
29
[Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)]. ( 9047985 )
1996
30
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
31
Trisomy 13 (Patau syndrome) with an 11-year survival. ( 8462196 )
1993
32
Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome). ( 2348978 )
1990
33
Trisomy 13 (Patau) syndrome in Delaware. ( 4076474 )
1985
34
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
35
Origin of extra chromosome in Patau syndrome. ( 6500580 )
1984
36
Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13). ( 6965845 )
1980
37
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
38
Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome. ( 7224090 )
1980
39
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:

id 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

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