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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   dextrocardia
  

Disease ID 943
Disease dextrocardia
Definition
A congenital defect in which the heart is located on the right side of the THORAX instead of on the left side (levocardia, the normal position). When dextrocardia is accompanied with inverted HEART ATRIA, a right-sided STOMACH, and a left-sided LIVER, the combination is called dextrocardia with SITUS INVERSUS. Dextrocardia may adversely affect other thoracic organs.
Synonym
dextrocardia (disorder)
dextrocardia [disease/finding]
dextrocardias
heart dextroposition
heart in right chest
heart predominantly in right hemithorax
heart predominantly in right hemithorax (disorder)
right sided heart
thoracic situs inversus
Orphanet
DOID
ICD10
UMLS
C0011813
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:20)
C0032357  |  poland syndrome  |  9
C0027051  |  myocardial infarct  |  4
C0027051  |  myocardial infarction  |  4
C0018799  |  heart disease  |  3
C0152021  |  congenital heart disease  |  2
C0018818  |  ventricular septal defect  |  2
C0026269  |  mitral stenosis  |  2
C0155626  |  acute myocardial infarction  |  1
C0026266  |  mitral regurgitation  |  1
C0152101  |  hypoplastic left heart  |  1
C0003507  |  aortic stenosis  |  1
C0175703  |  tar syndrome  |  1
C0038379  |  strabismus  |  1
C0022521  |  kartagener syndrome  |  1
C0018824  |  valvular heart disease  |  1
C0152101  |  hypoplastic left heart syndrome  |  1
C0005411  |  biliary atresia  |  1
C0264766  |  rheumatic mitral stenosis  |  1
C0024164  |  lutembacher's syndrome  |  1
C0008925  |  cleft palate  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
7547  |  ZIC3  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:22)
93  |  ACVR2B  |  2.164  |  DISEASES
10533  |  ATG7  |  1.389  |  DISEASES
54880  |  BCOR  |  2.89  |  DISEASES
10370  |  CITED2  |  2.214  |  DISEASES
79827  |  CLMP  |  3.584  |  DISEASES
78987  |  CRELD1  |  4.57  |  DISEASES
5476  |  CTSA  |  1.48  |  DISEASES
2081  |  ERN1  |  1.756  |  DISEASES
2318  |  FLNC  |  1.005  |  DISEASES
2626  |  GATA4  |  2.192  |  DISEASES
84667  |  HES7  |  4.103  |  DISEASES
3339  |  HSPG2  |  1.082  |  DISEASES
11009  |  IL24  |  1.439  |  DISEASES
7044  |  LEFTY2  |  2.566  |  DISEASES
4535  |  MT-ND1  |  2.08  |  DISEASES
1482  |  NKX2-5  |  1.389  |  DISEASES
261734  |  NPHP4  |  2.357  |  DISEASES
51715  |  RAB23  |  2.616  |  DISEASES
7955  |  RNF217-AS1  |  2.237  |  DISEASES
221421  |  RSPH9  |  3.849  |  DISEASES
5270  |  SERPINE2  |  1.882  |  DISEASES
347734  |  SLC35B2  |  3.445  |  DISEASES
Locus(Waiting for update.)
Disease ID 943
Disease dextrocardia
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:26)
HP:0001263  |  Global developmental delay
HP:0002245  |  Meckel diverticulum
HP:0001651  |  Dextrocardia
HP:0011620  |  Abnormality of abdominal situs
HP:0012243  |  Abnormal genital system morphology
HP:0001696  |  Situs inversus totalis
HP:0004414  |  Abnormality of the pulmonary artery
HP:0001374  |  Congenital hip dislocation
HP:0001627  |  Abnormal heart morphology
HP:0002101  |  Abnormal lung lobation
HP:0003115  |  Abnormal EKG
HP:0000465  |  Webbed neck
HP:0000069  |  Abnormality of the ureter
HP:0000772  |  Abnormality of the ribs
HP:0000384  |  Preauricular skin tag
HP:0010872  |  T-wave inversion
HP:0008771  |  Aplasia/Hypoplasia of the ear
HP:0001760  |  Abnormality of the foot
HP:0012210  |  Abnormal renal morphology
HP:0011615  |  Abnormality of pulmonary situs
HP:0003006  |  Neuroblastoma
HP:0002566  |  Intestinal malrotation
HP:0000238  |  Hydrocephalus
HP:0011603  |  Congenital malformation of the great arteries
HP:0001743  |  Abnormality of the spleen
HP:0002594  |  Pancreatic hypoplasia
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:25)
Disease ID 943
Disease dextrocardia
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: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:12)
HP ID HP Name MP ID MP Name Annotation
HP:0001743Abnormality of the spleenMP:0004485increased response of heart to induced stressincrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding
HP:0001627Abnormal heart morphologyMP:0004251failure of heart loopingfailure of the primitive heart tube to loop asymmetrically during early development
HP:0000384Preauricular skin tagMP:0001786skin edemaaccumulation of an excessive amount of fluid in the skin layers or just underneath the skin
HP:0001696Situs inversus totalisMP:0011252situs inversus totalisthe complete right to left reversal (transposition) of the thoracic and abdominal organs, including the heart (dextrocardia)
HP:0000772Abnormality of the ribsMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0004414Abnormality of the pulmonary arteryMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0001263Global developmental delayMP:0002084abnormal developmental patterningabnormal systematic arrangement of the developing body along an axis
HP:0002594Pancreatic hypoplasiaMP:0009111pancreas hypoplasiaunderdevelopment or reduced size of the pancreas, usually due to a reduced number of cells
HP:0002101Abnormal lung lobationMP:0010975abnormal lung lobe morphologyany structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls
HP:0000069Abnormality of the ureterMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0001760Abnormality of the footMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0012210Abnormal renal morphologyMP:0004505decreased renal glomerulus numberreduced number of the capillary loops of the kidney that normally function as a filtration unit
Mapped by homologous gene(Total Items:20)
HP ID HP Name MP ID MP Name Annotation
HP:0000772Abnormality of the ribsMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001263Global developmental delayMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0003115Abnormal EKGMP:0013504increased embryonic tissue cell apoptosisincrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0002245Meckel diverticulumMP:0014051abnormal maxillary-premaxillary suture morphologyany structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla)
HP:0004414Abnormality of the pulmonary arteryMP:0013696increased granulocyte monocyte progenitor cell numberincrease in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0003006NeuroblastomaMP:0014130thymus cystspresence of fluid-filled spaces lined by epithelium within the thymus; thymic cysts are rare mediastinal lesions and are thought to result from the congenital persistence of thymopharyngeal tracts and acquired, progressive cystic degeneration of thymic (H
HP:0001743Abnormality of the spleenMP:0013696increased granulocyte monocyte progenitor cell numberincrease in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0002594Pancreatic hypoplasiaMP:0014125decreased amylin secretionreduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a
HP:0001760Abnormality of the footMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000384Preauricular skin tagMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001374Congenital hip dislocationMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001627Abnormal heart morphologyMP:0012159absent anterior visceral endodermabsence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue
HP:0000465Webbed neckMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000069Abnormality of the ureterMP:0014171increased fatty acid oxidationincreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0002101Abnormal lung lobationMP:0013785abnormal mammary gland bud morphologyany structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva
HP:0012210Abnormal renal morphologyMP:0014152absent exorbital lacrimal glandabsence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland
HP:0002566Intestinal malrotationMP:0014155absent olfactory epitheliumabsence of the epithelial cells that line the interior of the nose
HP:0001651DextrocardiaMP:0012739abnormal anterior primitive streak morphologyany structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node
HP:0000238HydrocephalusMP:0020080increased bone mineralizationincrease in the rate at which minerals are deposited into bone
HP:0001696Situs inversus totalisMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
Disease ID 943
Disease dextrocardia
Case(Waiting for update.)