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Pediatric Disease Annotations & Medicines



   patau syndrome
  

Disease ID 1402
Disease patau syndrome
Definition
A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.
Synonym
13 trisomies
13 trisomy
bartholin-patau syndrome
chromosome 13 trisomy
chromosome 13 trisomy syndrome
complete trisomy 13 syndrome
complete trisomy 13 syndrome (disorder)
d1 trisomy
d1 trisomy syndrome
d1 trisomy syndrome
d>1< trisomy syndrome
patau's syndrome
patau's syndrome nos
patau's syndrome nos (disorder)
syndrome patau
trisomy 13
trisomy 13 nos
trisomy 13 syndrome
trisomy syndrome 13
Orphanet
DOID
UMLS
C0152095
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:6)
C0020302  |  congenital glaucoma  |  1
C0014544  |  epilepsy  |  1
C0393720  |  photosensitive epilepsy  |  1
C0152095  |  trisomy 13  |  1
C1533041  |  primary congenital glaucoma  |  1
C0017601  |  glaucoma  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:101)
920  |  CD4  |  DISEASES
266  |  AMELY  |  DISEASES
158  |  ADSL  |  DISEASES
57167  |  SALL4  |  DISEASES
10005  |  ACOT8  |  DISEASES
29124  |  LGALS13  |  DISEASES
3199  |  HOXA2  |  DISEASES
5949  |  RBP3  |  DISEASES
9173  |  IL1RL1  |  DISEASES
2322  |  FLT3  |  DISEASES
7389  |  UROD  |  DISEASES
9253  |  NUMBL  |  DISEASES
10343  |  PKDREJ  |  DISEASES
1208  |  CLPS  |  DISEASES
6496  |  SIX3  |  DISEASES
23314  |  SATB2  |  DISEASES
945  |  CD33  |  DISEASES
27443  |  CECR2  |  DISEASES
10133  |  OPTN  |  DISEASES
2208  |  FCER2  |  DISEASES
6017  |  RLBP1  |  DISEASES
26040  |  SETBP1  |  DISEASES
2321  |  FLT1  |  DISEASES
10225  |  CD96  |  DISEASES
84976  |  DISP1  |  DISEASES
4838  |  NODAL  |  DISEASES
6781  |  STC1  |  DISEASES
5937  |  RBMS1  |  DISEASES
2019  |  EN1  |  DISEASES
1293  |  COL6A3  |  DISEASES
6997  |  TDGF1  |  DISEASES
6862  |  T  |  DISEASES
6469  |  SHH  |  DISEASES
81501  |  DCSTAMP  |  DISEASES
9317  |  PTER  |  DISEASES
861  |  RUNX1  |  DISEASES
29123  |  ANKRD11  |  DISEASES
2357  |  FPR1  |  DISEASES
140738  |  TMEM37  |  DISEASES
1501  |  CTNND2  |  DISEASES
924  |  CD7  |  DISEASES
3170  |  FOXA2  |  DISEASES
10956  |  OS9  |  DISEASES
137814  |  NKX2-6  |  DISEASES
10938  |  EHD1  |  DISEASES
1827  |  RCAN1  |  DISEASES
78987  |  CRELD1  |  DISEASES
5069  |  PAPPA  |  DISEASES
23336  |  SYNM  |  DISEASES
8481  |  OFD1  |  DISEASES
23111  |  SPG20  |  DISEASES
1717  |  DHCR7  |  DISEASES
219844  |  HYLS1  |  DISEASES
126014  |  OSCAR  |  DISEASES
93034  |  NT5C1B  |  DISEASES
6427  |  SRSF2  |  DISEASES
1284  |  COL4A2  |  DISEASES
2673  |  GFPT1  |  DISEASES
2736  |  GLI2  |  DISEASES
1291  |  COL6A1  |  DISEASES
4720  |  NDUFS2  |  DISEASES
8038  |  ADAM12  |  DISEASES
262  |  AMD1  |  DISEASES
1193  |  CLIC2  |  DISEASES
257  |  ALX3  |  DISEASES
1791  |  DNTT  |  DISEASES
266675  |  BEST4  |  DISEASES
25  |  ABL1  |  DISEASES
113452  |  TMEM54  |  DISEASES
80114  |  BICC1  |  DISEASES
171023  |  ASXL1  |  DISEASES
5095  |  PCCA  |  DISEASES
7546  |  ZIC2  |  DISEASES
10253  |  SPRY2  |  DISEASES
54880  |  BCOR  |  DISEASES
2098  |  ESD  |  DISEASES
54790  |  TET2  |  DISEASES
265  |  AMELX  |  DISEASES
8623  |  ASMTL  |  DISEASES
284217  |  LAMA1  |  DISEASES
28227  |  PPP2R3B  |  DISEASES
54903  |  MKS1  |  DISEASES
64400  |  AKTIP  |  DISEASES
174  |  AFP  |  DISEASES
23164  |  MPRIP  |  DISEASES
2737  |  GLI3  |  DISEASES
122706  |  PSMB11  |  DISEASES
91147  |  TMEM67  |  DISEASES
55636  |  CHD7  |  DISEASES
1438  |  CSF2RA  |  DISEASES
7258  |  TSPY1  |  DISEASES
100289087  |  TSPY10  |  DISEASES
374308  |  PTCHD3  |  DISEASES
3712  |  IVD  |  DISEASES
930  |  CD19  |  DISEASES
488  |  ATP2A2  |  DISEASES
51259  |  TMEM216  |  DISEASES
11331  |  PHB2  |  DISEASES
5228  |  PGF  |  DISEASES
79104  |  MEG8  |  DISEASES
100169750  |  PRINS  |  DISEASES
Locus(Waiting for update.)
Disease ID 1402
Disease patau syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:5)
HP:0001636  |  Tetrology of fallot  |  1
HP:0008007  |  Primary congenital glaucoma  |  1
HP:0001087  |  Childhood glaucoma  |  1
HP:0000501  |  Glaucoma  |  1
HP:0001061  |  Acne  |  1
Disease ID 1402
Disease patau syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)