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encyclopedia of Rare Disease Annotation for Precision Medicine



   pulmonary venous return anomaly
  

Disease ID 1144
Disease pulmonary venous return anomaly
Definition
An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart.
Synonym
anomalous pulmonary venous return
anomaly, scimitar
apvr
pulmonary venolobar syndrome
pulmonary venous return, anomalous, total
scimitar anomaly
scimitar syndrome
scimitar syndrome (disorder)
scimitar syndrome [disease/finding]
syndrome, scimitar
tapvc - total anomalous pulmonary venous connection
tapvd
tapvd - total anomalous pulmonary venous drainage
tapvr
tapvr1
tot anom pulm ven connec
total anomalous pulmonary venous connection
total anomalous pulmonary venous drainage
total anomalous pulmonary venous return
total anomalous pulmonary venous return (disorder)
total anomalous pulmonary venous return 1
total anomalous pulmonary venous return nos
total anomalous pulmonary venous return nos (disorder)
Orphanet
OMIM
DOID
ICD10
UMLS
C0036400
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:18)
C0020542  |  pulmonary hypertension  |  2
C0158699  |  renal agenesis  |  2
C0008924  |  cleft lip  |  1
C0041408  |  turner syndrome  |  1
C0242379  |  lung cancer  |  1
C0175703  |  tar syndrome  |  1
C0040053  |  thrombosis  |  1
C0020538  |  hypertension  |  1
C0013069  |  double outlet right ventricle  |  1
C0026266  |  mitral regurgitation  |  1
C0085113  |  neurofibromatosis  |  1
C1619734  |  pulmonary arterial hypertension  |  1
C0026265  |  mitral valve disease  |  1
C0152101  |  hypoplastic left heart syndrome  |  1
C0155773  |  portal vein thrombosis  |  1
C0152101  |  hypoplastic left heart  |  1
C0003857  |  arteriovenous malformation  |  1
C0016522  |  secundum atrial septal defect  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
27063  |  ANKRD1  |  UNIPROT
6893  |  TAPVR1  |  CTD_human;OMIM
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:23)
34  |  ACADM  |  4.443  |  DISEASES
94  |  ACVRL1  |  1.74  |  DISEASES
27063  |  ANKRD1  |  4.146  |  DISEASES
554  |  AVPR2  |  1.53  |  DISEASES
100130418  |  CECR7  |  4.378  |  DISEASES
78987  |  CRELD1  |  4.067  |  DISEASES
79947  |  DHDDS  |  2.068  |  DISEASES
10938  |  EHD1  |  2.291  |  DISEASES
2200  |  FBN1  |  1.608  |  DISEASES
9446  |  GSTO1  |  2.19  |  DISEASES
23493  |  HEY2  |  2.57  |  DISEASES
3767  |  KCNJ11  |  1.985  |  DISEASES
11012  |  KLK11  |  2.674  |  DISEASES
3949  |  LDLR  |  1.225  |  DISEASES
4878  |  NPPA  |  1.56  |  DISEASES
5154  |  PDGFA  |  1.926  |  DISEASES
9124  |  PDLIM1  |  2.332  |  DISEASES
5698  |  PSMB9  |  2.205  |  DISEASES
5817  |  PVR  |  2.852  |  DISEASES
135250  |  RAET1E  |  2.794  |  DISEASES
6444  |  SGCD  |  2.441  |  DISEASES
7433  |  VIPR1  |  2.509  |  DISEASES
8565  |  YARS  |  2.449  |  DISEASES
Locus(Waiting for update.)
Disease ID 1144
Disease pulmonary venous return anomaly
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:5)
HP:0009884  |  Tapered distal phalanges of finger
HP:0002205  |  Frequent respiratory infections
HP:0002092  |  Pulmonary artery hypertension
HP:0005160  |  Total anomalous pulmonary venous return
HP:0008386  |  Aplasia/Hypoplasia of the nails
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:42)
HP:0001631  |  Atria septal defect  |  7
HP:0001750  |  Single ventricle  |  5
HP:0011567  |  Sinus venosus atrial septal defect  |  4
HP:0030853  |  Heterotaxy  |  3
HP:0001680  |  Coarctation of aorta  |  3
HP:0002089  |  Hypoplastic lungs  |  2
HP:0000104  |  Renal agenesis  |  2
HP:0001669  |  Transposition of the great arteries  |  2
HP:0001643  |  Persistent ductus arteriosus  |  2
HP:0002092  |  Pulmonary artery hypertension  |  2
HP:0030715  |  Bronchial atresia  |  2
HP:0100632  |  Pulmonary sequestration  |  2
HP:0000961  |  Cyanosis  |  2
HP:0011536  |  Right atrial isomerism  |  2
HP:0002094  |  Dyspnea  |  2
HP:0005608  |  Double gallbladder  |  1
HP:0002617  |  Aneurysmal dilatation  |  1
HP:0001710  |  Conotruncal heart defects  |  1
HP:0030707  |  Unilateral pulmonary agenesis  |  1
HP:0001651  |  Thoracic situs inversus  |  1
HP:0100749  |  Thoracic pain  |  1
HP:0002575  |  Tracheoesophageal fistula  |  1
HP:0001653  |  Mitral valve insufficiency  |  1
HP:0011720  |  Type 2 total anomalous pulmonary venous connection  |  1
HP:0001662  |  Bradycardia  |  1
HP:0000365  |  Hearing impairment  |  1
HP:0005775  |  Multiple skeletal anomalies  |  1
HP:0000924  |  Abnormality of the skeletal system  |  1
HP:0011540  |  Congenitally corrected transposition of the great arteries  |  1
HP:0002105  |  Hemoptysis  |  1
HP:0030242  |  Blood clot in portal vein  |  1
HP:0000822  |  Hypertension  |  1
HP:0001518  |  Small for gestational age  |  1
HP:0005301  |  Persistent left superior vena cava  |  1
HP:0011721  |  Type 3 total anomalous pulmonary venous connection  |  1
HP:0004383  |  Underdeveloped left heart  |  1
HP:0001684  |  Secundum atrial septal defect  |  1
HP:0001719  |  Double-outlet right ventricle  |  1
HP:0011278  |  Intrapulmonary sequestration  |  1
HP:0001067  |  Neurofibromas  |  1
HP:0001688  |  Sinus bradycardia  |  1
HP:0011626  |  Scimitar anomaly  |  1
Disease ID 1144
Disease pulmonary venous return anomaly
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:1)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1423541331827386227063ANKRD1umls:C0036400UNIPROTTranscriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return.0.1202714422008ANKRD11090918971GA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:3)
HP ID HP Name MP ID MP Name Annotation
HP:0008386Aplasia/Hypoplasia of the nailsMP:0008530abnormal rostral-caudal patterning of the somitesanomaly in the developmental pattern of the somites along the axis that runs from the rostral to the caudal region of the body
HP:0002205Recurrent respiratory infectionsMP:0014182decreased respiratory epithelial sodium ion transmembrane transportdecrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other
HP:0002092Pulmonary hypertensionMP:0005258ocular hypertensionabnormal elevation of the intraocular pressure
Mapped by homologous gene(Total Items:5)
HP ID HP Name MP ID MP Name Annotation
HP:0005160Total anomalous pulmonary venous returnMP:0013600testis degenerationa retrogressive impairment of function or destruction of either or both of the male reproductive glands
HP:0002205Recurrent respiratory infectionsMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0002092Pulmonary hypertensionMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0008386Aplasia/Hypoplasia of the nailsMP:0014198absent pituitary infundibular stalkabsence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0009884Tapered distal phalanges of fingerMP:0013278decreased fasted circulating glucose levelreduction in the amount of glucose in the blood at some defined time point after eating compared to controls
Disease ID 1144
Disease pulmonary venous return anomaly
Case(Waiting for update.)