Heterotaxy, visceral, 5, autosomal

Preferred Label : Heterotaxy, visceral, 5, autosomal;

Symbol : HTX5;

CISMeF acronym : HTX5; SIV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SIV; Situs inversus viscerum;

Description : Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mouse homolog of the nodal gene (NODAL, 601265.0001);

Prefixed ID : #270100;

Détails

Origin ID

270100;

UMLS CUI

C3495537;

Automatic exact mappings (from CISMeF team)
- NODAL wt Allele [NCIt concept]
- Simian Immunodeficiency Virus [NCIt concept]
- Situs inversus totalis [ORDO Disease]
- heterotaxy, visceral, X-linked [MeSH Supplementary Concept]
- simian immunodeficiency virus [MeSH Descriptor]
- subintestinal vein [UBERON concept]
- ventricular septum [MeSH Descriptor]
Broader ORDO disease(s)
- Heterotaxia [ORDO Disease]
Currated CISMeF NLP mapping
- Abdominal situs inversus [HPO term]
- Situs Inversus [NCIt concept]
- Situs inversus viscerum (disorder) [SNOMED CT concept]
- Total mirror imagery [ICD-11 Category]
- heterotaxy, visceral, 5, autosomal [MeSH concept]
- situs inversus [DO Concept]
- situs inversus [MeSH Descriptor]
- situs inversus [MeSH concept]
- situs inversus viscerum [SNOMED Notion]
DO Cross reference
- situs inversus [DO Concept]
Genes related to phenotype
- Nodal growth differentiation factor [OMIM gene]
HPO term(s)
- Abdominal situs ambiguus [HPO term]
- Abdominal situs inversus [HPO term]
- Absence of the sacrum [HPO term]
- Ascending tubular aorta aneurysm [HPO term]
- Asplenia [HPO term]
- Atrial reentry tachycardia [HPO term]
- Atrial septal defect [HPO term]
- Atrioventricular canal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral trilobed lungs [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Coarctation of aorta [HPO term]
- Congenital onset [HPO term]
- Dextrocardia [HPO term]
- Dextrotransposition of the great arteries [HPO term]
- Double inlet left ventricle [HPO term]
- Double outlet right ventricle [HPO term]
- Duodenal atresia [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Partial anomalous pulmonary venous return [HPO term]
- Patent ductus arteriosus [HPO term]
- Pulmonary artery atresia [HPO term]
- Renal hypoplasia [HPO term]
- Right atrial isomerism [HPO term]
- Single ventricle [HPO term]
- Total anomalous pulmonary venous return [HPO term]
- Ureteral duplication [HPO term]
- Ureteral stenosis [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Heterotaxia [ORDO Disease]
Related ORDO disease(s)
- Situs inversus totalis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- heterotaxy, visceral, 5, autosomal [MeSH concept]

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