MCID: PTS001
MIFTS: 49

Patau Syndrome malady

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

Aliases & Classifications for Patau Syndrome

About this section
Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 45NCIt, 48NIH Rare Diseases, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Patau Syndrome:

Name: Patau Syndrome 11 71 48 25 54 13 68
Trisomy 13 11 48 25 54
Complete Trisomy 13 Syndrome 48 25 27
Trisomy 13 Syndrome 25 39
Patau's Syndrome 11 25
 
Chromosome 13, Trisomy 13 Complete 48
Chromosome 13 Duplication 68
Bartholin-Patau Syndrome 25
D1 Trisomy 11

Characteristics:

Orphanet epidemiological data:

54
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
ICD1030 Q91.7
ICD9CM32 758.1
MeSH39 C536305
NCIt45 C101223
Orphanet54 ORPHA3378
UMLS via Orphanet69 C2936830
ICD10 via Orphanet31 Q91.4, Q91.5, Q91.6 Q91.7, more

Summaries for Patau Syndrome

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Patau Syndrome is NODAL (Nodal Growth Differentiation Factor). Affiliated tissues include eye, heart and brain, and related mouse 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

About this section

Diseases related to Patau Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1pseudotrisomy 13 syndrome11.0
2mosaic trisomy 1310.5
3orofaciodigital syndrome viii10.3
4pediatric liposarcoma10.2AFP, NODAL
5granulomatous orchitis10.2AFP, NODAL
6mental retardation, autosomal dominant 2610.1AGO2, FPR1
7down syndrome10.1
8spindle cell rhabdomyosarcoma10.0AFP, AGO2
9cervical adenitis10.0NODAL, SIX3
10ophthalmoplegia, progressive, with scrotal tongue and mental deficiency9.9AFP, AGO2, FPR1, LGALS13
11craniofaciofrontodigital syndrome9.9AFP, SIX3
12primary oculocerebral lymphoma9.9NODAL, SIX3, ZIC2
13hemorrhagic destruction of the brain, subependymal calcification, and cataracts9.9AFP, OFD1, TMEM67
14late-onset nephronophthisis9.9NODAL, SIX3, ZIC2
15antenatal bartter syndrome9.9NODAL, SIX3, ZIC2
16familial infantile bilateral striatal necrosis9.9NODAL, SIX3, ZIC2
17atypical hemolytic-uremic syndrome with h factor anomaly9.9NODAL, SIX3, ZIC2
18glaucoma 1, open angle, f9.9NODAL, SIX3, ZIC2
19small cell carcinoma9.9AFP, SIX3
20angiodysplasia9.9NODAL, SIX3, ZIC2
21hypoplastic left heart syndrome9.9NODAL, SIX3, ZIC2
22fibrous dysplasia9.8AFP, NODAL, SIX3, ZIC2
23major affective disorder 19.8AGO2, NODAL, SIX3, ZIC2
24tetralogy of fallot9.7
25acne9.7
26craniosynostosis9.7
27photosensitive epilepsy9.7
28gonadal dysgenesis9.7
29epilepsy9.7
30turner syndrome9.7
31congenital diaphragmatic hernia9.7
32primary congenital glaucoma9.7
33chromosomal triplication9.6
34hypotrichosis of eyelid8.5AFP, 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

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Human phenotypes related to Patau Syndrome:

 54 64 (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of female internal genitalia64 54 Frequent (79-30%) HP:0000008
2 cryptorchidism64 54 Frequent (79-30%) HP:0000028
3 abnormality of the ureter64 54 Frequent (79-30%) HP:0000069
4 hydronephrosis64 54 Frequent (79-30%) HP:0000126
5 median cleft lip64 54 Very frequent (99-80%) HP:0000161
6 abnormality of the teeth64 54 Frequent (79-30%) HP:0000164
7 cleft palate64 54 Very frequent (99-80%) HP:0000175
8 abnormality of the fontanelles or cranial sutures64 54 Very frequent (99-80%) HP:0000235
9 long philtrum64 54 Frequent (79-30%) HP:0000343
10 low-set ears64 54 Very frequent (99-80%) HP:0000369
11 preauricular skin tag64 54 Frequent (79-30%) HP:0000384
12 sensorineural hearing impairment64 54 Frequent (79-30%) HP:0000407
13 cystic hygroma64 54 Very frequent (99-80%) HP:0000476
14 deeply set eye64 54 Frequent (79-30%) HP:0000490
15 abnormality of the eyelashes64 54 Frequent (79-30%) HP:0000499
16 abnormality of vision64 54 Frequent (79-30%) HP:0000504
17 cataract64 54 Frequent (79-30%) HP:0000518
18 anophthalmia64 54 Very frequent (99-80%) HP:0000528
19 microphthalmia64 54 Very frequent (99-80%) HP:0000568
20 iris coloboma64 54 Frequent (79-30%) HP:0000612
21 optic atrophy64 54 Frequent (79-30%) HP:0000648
22 narrow chest64 54 Frequent (79-30%) HP:0000774
23 skull defect54 Frequent (79-30%)
24 intrauterine growth retardation64 54 Very frequent (99-80%) HP:0001511
25 ventricular septal defect64 54 Very frequent (99-80%) HP:0001629
26 atria septal defect54 Very frequent (99-80%)
27 hydrops fetalis64 54 Very frequent (99-80%) HP:0001789
28 abnormal lung lobation64 54 Frequent (79-30%) HP:0002101
29 neurological speech impairment64 54 Very frequent (99-80%) HP:0002167
30 arnold-chiari malformation64 54 Frequent (79-30%) HP:0002308
31 malformation of the heart and great vessels54 Very frequent (99-80%)
32 abnormality of pelvic girdle bone morphology64 54 Very frequent (99-80%) HP:0002644
33 scoliosis64 54 Frequent (79-30%) HP:0002650
34 high, narrow palate64 54 Frequent (79-30%) HP:0002705
35 preauricular pit64 54 Frequent (79-30%) HP:0004467
36 abnormal dermatoglyphics54 Frequent (79-30%)
37 bilateral single transverse palmar creases64 54 Very frequent (99-80%) HP:0007598
38 abnormality of the retinal vasculature64 54 Frequent (79-30%) HP:0008046
39 aplasia/hypoplasia of the iris64 54 Frequent (79-30%) HP:0008053
40 severe global developmental delay64 54 Very frequent (99-80%) HP:0011344
41 ectrodactyly64 54 Frequent (79-30%) HP:0100257
42 cognitive impairment64 54 Very frequent (99-80%) HP:0100543
43 malar flattening64 54 Very frequent (99-80%) HP:0000272
44 abnormality of the middle ear64 54 Frequent (79-30%) HP:0000370
45 abnormality of the eye54 Frequent (79-30%)
46 hypotelorism64 54 Very frequent (99-80%) HP:0000601
47 abnormality of the ribs64 54 Frequent (79-30%) HP:0000772
48 postaxial hand polydactyly64 54 Very frequent (99-80%) HP:0001162
49 seizures64 54 Very frequent (99-80%) HP:0001250
50 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
51 patent ductus arteriosus64 54 Very frequent (99-80%) HP:0001643
52 kyphosis64 54 Frequent (79-30%) HP:0002808
53 capillary hemangiomas64 54 Frequent (79-30%) HP:0005306
54 multiple renal cysts64 54 Frequent (79-30%) HP:0005562
55 abnormality of the antihelix64 54 Frequent (79-30%) HP:0009738
56 intellectual disability, severe64 54 Very frequent (99-80%) HP:0010864
57 abnormality of the helix64 54 Frequent (79-30%) HP:0011039
58 displacement of the external urethral meatus64 54 Frequent (79-30%) HP:0100627
59 hernia64 54 Frequent (79-30%) HP:0100790
60 calvarial skull defect64 HP:0001362
61 atrial septal defect64 HP:0001631

MGI Mouse Phenotypes related to Patau Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8NODAL, OFD1, SIX3, TMEM67, ZIC2
2MP:00053818.8NODAL, OFD1, SIX3, TMEM67, ZIC2
3MP:00053808.4AGO2, NODAL, OFD1, SIX3, TMEM67, ZIC2
4MP:00107686.4AFP, AGO2, FPR1, NODAL, OFD1, SIX3

Drugs & Therapeutics for Patau Syndrome

About this section

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

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 31692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2
leucovorinapproved, NutraceuticalPhase 3323558-05-954575, 6560146, 143
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyl-THF
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
3
Folic Acidapproved, nutraceutical, vet_approvedPhase 3439259-30-36037
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
4VitaminsPhase 35282
5Trace ElementsPhase 36001
6Vitamin B ComplexPhase 34337
7HematinicsPhase 31684
8MicronutrientsPhase 36001
9Antirheumatic AgentsPhase 310956
10FolateNutraceuticalPhase 34392
11Vitamin B9NutraceuticalPhase 34392
12
Mentholapproved26062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
13Mitogens1617

Interventional clinical trials:

(show all 25)
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
22VAlidation of a Lower Cost aneUploidy scrEenNot yet recruitingNCT03087357
23DS-Connect {TM}: The Down Syndrome RegistrySuspendedNCT01950624
24Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation PregnanciesTerminatedNCT02226315
25Detecting 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 Syndrome27

Anatomical Context for Patau Syndrome

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MalaCards organs/tissues related to Patau Syndrome:

36
Eye, Heart, Brain, Spinal cord, Skin, Lung, Bone

Publications for Patau Syndrome

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Articles related to Patau Syndrome:

(show all 39)
idTitleAuthorsYear
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

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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:00603959.9AFP, NODAL
2brain developmentGO:00074209.5NODAL, SIX3, ZIC2

Sources for Patau Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet