Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:5155
Name:Heterotaxy Syndrome
Definition:Abnormal thoracoabdominal VISCERA arrangement (visceral heterotaxy) or malformation that involves additional CONGENITAL HEART DEFECTS (e.g., heart isomerism; DEXTROCARDIA) and/or abnormal SPLEEN (e.g., asplenia and polysplenia). Irregularities with the central nervous system, the skeleton and urinary tract are often associated with the syndrome.
Alternative IDs:OMIM:208530
ParentIDs:MESH:D000015|MESH:D006330|MESH:D013158
TreeNumbers:C14.240.400.592 |C14.280.400.592 |C15.604.744.146 |C16.131.077.401 |C16.131.240.400.592
Synonyms:Ambiguus, Situs |Ambiguus Viscerum, Situs |Ambiguus Viscerums, Situs |Asplenia Syndrome |Asplenia Syndromes |Asplenia with Cardiovascular Anomalies |Atrial Isomerism, Left |Atrial Isomerism, Right |Atrial Isomerisms, Left |Atrial Isomerisms, Right |Heterotaxies, V
Slim Mappings:Cardiovascular disease|Congenital abnormality|Lymphatic disease
Reference: MedGen: D059446
MeSH: D059446
OMIM: 208530;

Genes: GDF1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002101Abnormal lung lobation
3 HP:0001274Agenesis of corpus callosum
4 HP:0010772Anomalous pulmonary venous return
5 HP:0001746Asplenia
6 HP:0001631Atrial septal defect
7 HP:0011565Common atrium
8 HP:0001674Complete atrioventricular canal defect
9 HP:0001748Polysplenia
10 HP:0004935Pulmonary artery atresia
11 HP:0001642Pulmonic stenosis
12 HP:0011536Right atrial isomerism
13 HP:0001696Situs inversus totalis
14 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001492.5(GDF1):c.909dupC (p.Val304Argfs)-1-Pathogenic606231383RCV000055616; NMedGen:C0175707,OMIM:208530,SNOMED CT:17604001191897961618979616NM_001492.5:c.909dupCNP_001483.3:p.Val304ArgfsNC_000019.9:g.18979616dupGOMIM Allelic Variant:602880.0004C0175707 208530 Bilateral right-sidedness sequence
NM_001492.5(GDF1):c.681C>A (p.Cys227Ter)-1-Likely pathogenic;Pathogenic121434422RCV000007139; RCV000197225; RCV000055615; NMedGen:C0175707,OMIM:208530,SNOMED CT:17604001; MedGen:C3151221,OMIM:613854; MedGen:C3178805,ORPHA:450191897984418979844NM_001492.5:c.681C>ANP_001483.3:p.Cys227TerNC_000019.9:g.18979844G>TOMIM Allelic Variant:602880.0001C0175707 208530 Bilateral right-sidedness sequence; C3178805 Heterotaxy syndrome; C3151221 613854 Transposition of the great arteries, dextro-looped 3