MCID: PTS001
MIFTS: 49

Patau Syndrome malady

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

Aliases & Classifications for Patau Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 38MeSH, 44NCIt, 47NIH Rare Diseases, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Patau Syndrome:

Name: Patau Syndrome 11 70 47 25 53 13 67
Trisomy 13 11 47 25 53
Complete Trisomy 13 Syndrome 47 25 26
Trisomy 13 Syndrome 25 38
Patau's Syndrome 11 25
 
Chromosome 13, Trisomy 13 Complete 47
Chromosome 13 Duplication 67
Bartholin-Patau Syndrome 25
D1 Trisomy 11

Characteristics:

Orphanet epidemiological data:

53
patau syndrome:
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 Ontology11 DOID:11665
ICD1029 Q91.7
ICD9CM31 758.1
MeSH38 C536305
NCIt44 C101223
Orphanet53 ORPHA3378
UMLS via Orphanet68 C2936830
ICD10 via Orphanet30 Q91.4, Q91.5, Q91.6 Q91.7, more

Summaries for Patau Syndrome

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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.

MalaCards based summary: Patau Syndrome, also known as trisomy 13, is related to pseudotrisomy 13 syndrome and mosaic trisomy 13, and has symptoms including median cleft lip, cleft palate and abnormality of the fontanelles or cranial sutures. An important gene associated with Patau Syndrome is NODAL (Nodal Growth Differentiation Factor). Affiliated tissues include eye, heart and testes, and related mouse phenotypes are digestive/alimentary and embryo.

Wikipedia:70 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

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Graphical network of the top 20 diseases related to Patau Syndrome:



Diseases related to patau syndrome

Symptoms for Patau Syndrome

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Human phenotypes related to Patau Syndrome:

 63 53 (show all 66)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 median cleft lip63 53 hallmark (90%) Very frequent (99-80%) HP:0000161
2 cleft palate63 53 hallmark (90%) Very frequent (99-80%) HP:0000175
3 abnormality of the fontanelles or cranial sutures63 53 hallmark (90%) Very frequent (99-80%) HP:0000235
4 malar flattening63 53 hallmark (90%) Very frequent (99-80%) HP:0000272
5 low-set, posteriorly rotated ears63 hallmark (90%) HP:0000368
6 cystic hygroma63 53 hallmark (90%) Very frequent (99-80%) HP:0000476
7 hypotelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000601
8 single transverse palmar crease63 hallmark (90%) HP:0000954
9 postaxial hand polydactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001162
10 seizures63 53 hallmark (90%) Very frequent (99-80%) HP:0001250
11 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
12 intrauterine growth retardation63 53 hallmark (90%) Very frequent (99-80%) HP:0001511
13 ventricular septal defect63 53 hallmark (90%) Very frequent (99-80%) HP:0001629
14 atria septal defect63 hallmark (90%) HP:0001631
15 patent ductus arteriosus63 53 hallmark (90%) Very frequent (99-80%) HP:0001643
16 hydrops fetalis63 53 hallmark (90%) Very frequent (99-80%) HP:0001789
17 neurological speech impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002167
18 abnormality of pelvic girdle bone morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0002644
19 abnormality of chromosome segregation63 hallmark (90%) HP:0002916
20 cognitive impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0100543
21 abnormality of female internal genitalia63 53 typical (50%) Frequent (79-30%) HP:0000008
22 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
23 abnormality of the ureter63 53 typical (50%) Frequent (79-30%) HP:0000069
24 polycystic kidney dysplasia63 typical (50%) HP:0000113
25 abnormality of the teeth63 53 typical (50%) Frequent (79-30%) HP:0000164
26 long philtrum63 53 typical (50%) Frequent (79-30%) HP:0000343
27 abnormality of the middle ear63 53 typical (50%) Frequent (79-30%) HP:0000370
28 preauricular skin tag63 53 typical (50%) Frequent (79-30%) HP:0000384
29 sensorineural hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000407
30 deeply set eye63 53 typical (50%) Frequent (79-30%) HP:0000490
31 abnormality of the eyelashes63 53 typical (50%) Frequent (79-30%) HP:0000499
32 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
33 iris coloboma63 53 typical (50%) Frequent (79-30%) HP:0000612
34 optic atrophy63 53 typical (50%) Frequent (79-30%) HP:0000648
35 abnormality of the ribs63 53 typical (50%) Frequent (79-30%) HP:0000772
36 narrow chest63 53 typical (50%) Frequent (79-30%) HP:0000774
37 split hand63 typical (50%) HP:0001171
38 calvarial skull defect63 typical (50%) HP:0001362
39 abnormal lung lobation63 53 typical (50%) Frequent (79-30%) HP:0002101
40 arnold-chiari malformation63 53 typical (50%) Frequent (79-30%) HP:0002308
41 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
42 kyphosis63 53 typical (50%) Frequent (79-30%) HP:0002808
43 abnormality of the retinal vasculature63 53 typical (50%) Frequent (79-30%) HP:0008046
44 aplasia/hypoplasia of the iris63 53 typical (50%) Frequent (79-30%) HP:0008053
45 abnormality of the antihelix63 53 typical (50%) Frequent (79-30%) HP:0009738
46 abnormality of the helix63 53 typical (50%) Frequent (79-30%) HP:0011039
47 displacement of the external urethral meatus63 53 typical (50%) Frequent (79-30%) HP:0100627
48 hernia63 53 typical (50%) Frequent (79-30%) HP:0100790
49 hydronephrosis53 Frequent (79-30%)
50 low-set ears53 Very frequent (99-80%)
51 abnormality of vision53 Frequent (79-30%)
52 anophthalmia53 Very frequent (99-80%)
53 microphthalmia53 Very frequent (99-80%)
54 skull defect53 Frequent (79-30%)
55 defect in the atrial septum53 Very frequent (99-80%)
56 malformation of the heart and great vessels53 Very frequent (99-80%)
57 high, narrow palate53 Frequent (79-30%)
58 preauricular pit53 Frequent (79-30%)
59 abnormal dermatoglyphics53 Frequent (79-30%)
60 bilateral single transverse palmar creases53 Very frequent (99-80%)
61 severe global developmental delay53 Very frequent (99-80%)
62 ectrodactyly53 Frequent (79-30%)
63 abnormality of the eye53 Frequent (79-30%)
64 capillary hemangiomas53 Frequent (79-30%)
65 multiple renal cysts53 Frequent (79-30%)
66 intellectual disability, severe53 Very frequent (99-80%)

Drugs & Therapeutics for Patau Syndrome

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 31654174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2
Folic Acidapproved, nutraceutical, vet_approvedPhase 3427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
3VitaminsPhase 35095
4Vitamin B ComplexPhase 34229
5Trace ElementsPhase 35802
6MicronutrientsPhase 35802
7HematinicsPhase 31630
8Antirheumatic AgentsPhase 310627
9Folinic AcidNutraceuticalPhase 33150
10Vitamin B9NutraceuticalPhase 34279
11FolateNutraceuticalPhase 34279
12Mitogens1526

Interventional clinical trials:

(show all 24)
idNameStatusNCT IDPhase
1Folic Acid Dosage and Malformations ReductionUnknown statusNCT01244347Phase 3
2Rituximab Versus Observation as Maintenance Therapy in Chronic Lymphocytic Leukemia (Chronic Lymphocytic Leukemia)Active, not recruitingNCT01118234Phase 3
3Non-Invasive Determination of Fetal Chromosome AbnormalitiesUnknown statusNCT00891852
4MatErnal BLood IS Source to Accurately Diagnose Fetal AneuploidyCompletedNCT01122524
5A New Prenatal Blood Test for Down SyndromeCompletedNCT00877292
6Prenatal Screening for Down Syndrome With DNAFirstCompletedNCT01966991
7Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma MarkerCompletedNCT00770458
8Comparison of Aneuploidy Risk EvaluationsCompletedNCT01663350
9Non-invasive Prenatal Diagnostic Validation StudyCompletedNCT01574781
10Multiple Gestation StudyRecruitingNCT02278536
11High Risk Multiple Gestation StudyRecruitingNCT02278874
12Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
13Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal BloodRecruitingNCT01852708
14Non-Invasive Chromosomal Evaluation of Trisomy StudyRecruitingNCT02201862
15Expanded Noninvasive Genomic Medical Assessment: The Enigma StudyRecruitingNCT02787486
16SNP-based Microdeletion and Aneuploidy RegisTry (SMART)RecruitingNCT02381457
17Whole Blood Specimen Collection From Pregnant SubjectsRecruitingNCT02430584
18A Safer Pre-Natal Diagnosis Using Free DNA in Maternal BloodRecruitingNCT01472523
19Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal BloodActive, not recruitingNCT01925742
20Prenatal Non-invasive Aneuploidy Test Utilizing SNPs TrialActive, not recruitingNCT01545674
21T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk PatientsActive, not recruitingNCT02424474
22DS-Connect {TM}: The Down Syndrome RegistrySuspendedNCT01950624
23Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation PregnanciesTerminatedNCT02226315
24Detecting Early Onset Pre-eclampsia and Use of Placental Growth Factor (PlGF) for Marker of Trisomy 21TerminatedNCT01387776

Search NIH Clinical Center for Patau Syndrome


Cochrane evidence based reviews: trisomy 13 syndrome

Genetic Tests for Patau Syndrome

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Genetic tests related to Patau Syndrome:

id Genetic test Affiliating Genes
1 Complete Trisomy 13 Syndrome26

Anatomical Context for Patau Syndrome

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MalaCards organs/tissues related to Patau Syndrome:

35
Eye, Heart, Testes, Spinal cord, Brain, Skin, Lung

Animal Models for Patau Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Patau Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8NODAL, OFD1, SIX3, TMEM67, ZIC2
2MP:00053808.5AGO2, NODAL, OFD1, SIX3, TMEM67, ZIC2
3MP:00107686.5AFP, AGO2, FPR1, NODAL, OFD1, SIX3

Publications for Patau Syndrome

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Articles related to Patau Syndrome:

(show all 39)
idTitleAuthorsYear
1
Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report. (27134897)
2016
2
Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome. (27490343)
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
Trisomy 13 (Patau syndrome) and congenital heart defects. (24214527)
2014
6
Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study. (25459971)
2014
7
An interesting coexistence of Patau syndrome; Spigelian hernia and undescended testes. (25059026)
2014
8
Trisomy 13 (Patau syndrome) with tetralogy of Fallot--to treat or not to treat? (24461962)
2014
9
Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. (25593701)
2014
10
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. (23613355)
2013
11
Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. (23949924)
2013
12
Gestational, perinatal and family findings of patients with Patau syndrome. (24473950)
2013
13
Phenotypic variability in Patau syndrome. (24340511)
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
Longevity and Patau syndrome: what determines survival? (23220825)
2012
16
Trisomy 13 (Patau syndrome) and craniosynostosis. (21739580)
2011
17
Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. (21977150)
2010
18
Extensive comedonal and cystic acne in Patau syndrome. (20537076)
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
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
Clinical and cytogenetic variations of Patau syndrome (demonstration of ten patients). (1214146)
1975

Variations for Patau Syndrome

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Expression for genes affiliated with Patau Syndrome

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Search GEO for disease gene expression data for Patau Syndrome.

Pathways for genes affiliated with Patau Syndrome

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GO Terms for genes affiliated with Patau Syndrome

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Biological processes related to Patau Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1SMAD protein signal transductionGO:006039510.3AFP, NODAL
2liver developmentGO:00018899.4AFP, NODAL, UROD
3brain developmentGO:00074209.0NODAL, SIX3, ZIC2

Sources for Patau Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet