Coarctation of aorta

Symptom Information:

Symptom ID: HPO:0001680
Synonyms:
Aortic coarctation [HPO:0001680]
Coaractation of the aorta [HPO:0001680]
Coarctation of the aorta [HPO:0001680]
Aortic coarctation [Orphanet:34320]
Coarctation (morphologic abnormality) [Orphanet:34320]
Coarctation of aorta (disorder) [Orphanet:34320]
Coarctation [Orphanet:34320]
Aortic coarctation [OMIM:Aortic coarctation]
Coaractation of the aorta [OMIM:Coaractation of the aorta]
Coarctation of aorta [OMIM:Coarctation of aorta]
Coarctation of the aorta [OMIM:Coarctation of the aorta]
Hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption [Orphanet:34320]
Coarctation of the aorta [Orphanet:34320]
Coarctation of the aorta [MedDRA:10009807]
Aortic coarctation [MedDRA:10009807]
Coarctation of aorta [MedDRA:10009807]
Coarctation of aorta (preductal) (postductal) [MedDRA:10009807]
Aortic coarctation (1 patient) [OMIM:Aortic coarctation (1 patient)]
Aortic coarctation (in some patients) [OMIM:Aortic coarctation (in some patients)]
Aortic coarctation (rare) [OMIM:Aortic coarctation (rare)]
Coarctation [OMIM:Coarctation]
Coarctation of aorta (rare) [OMIM:Coarctation of aorta (rare)]
Coarctation of the aorta (1 patient) [OMIM:Coarctation of the aorta (1 patient)]
Aorta hypoplasia [MedDRA:10049209]
Congenital hypoplasia of aorta (disorder) [Orphanet:34320]
Hypoplasia of aorta (disorder) [Orphanet:34320]
Hypoplasia of aorta [Orphanet:34320]
Quality:
Cross references:
HPO:0005113 "Dilatation of the aortic arch" [Orphanet:34320]
Orphanet:34320 "Hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption" [Orphanet:34320]
OMIM: "Aortic coarctation" [OMIM:Aortic coarctation]
OMIM: "Coaractation of the aorta" [OMIM:Coaractation of the aorta]
OMIM: "Coarctation of aorta" [OMIM:Coarctation of aorta]
OMIM: "Coarctation of the aorta" [OMIM:Coarctation of the aorta]
OMIM: "Aortic coarctation (1 patient)" [OMIM:Aortic coarctation (1 patient)]
OMIM: "Aortic coarctation (in some patients)" [OMIM:Aortic coarctation (in some patients)]
OMIM: "Aortic coarctation (rare)" [OMIM:Aortic coarctation (rare)]
OMIM: "Coarctation" [OMIM:Coarctation]
OMIM: "Coarctation of aorta (rare)" [OMIM:Coarctation of aorta (rare)]
OMIM: "Coarctation of the aorta (1 patient)" [OMIM:Coarctation of the aorta (1 patient)]
UMLS:C0332886 "Coarctation" [Orphanet:34320]
UMLS:C0003492 "Aortic coarctation" [Orphanet:34320]
UMLS:C0265892 "Hypoplasia of aorta" [Orphanet:34320]
Is a (Direct Parents):
HPO         Abnormality of the aorta
Orphanet obsolete Malformation of the heart and great vessels
MedDRA Great vessel disorders congenital
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the cardiovascular system(HPO:0001626)
          Abnormality of the vasculature(HPO:0002597)
             Abnormality of the systemic arterial tree(HPO:0011004)
                Abnormality of the aorta(HPO:0001679)
                   Coarctation of aorta(HPO:0001680)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Cardiac and vascular disorders congenital(MedDRA:10007510)
       Great vessel disorders congenital(MedDRA:10018717)
          Coarctation of aorta(HPO:0001680)
Database Frequency: 57 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA (OMIM:107550)
AORTIC VALVE DISEASE 2 (OMIM:614823)
ATRIAL SEPTAL DEFECT 4 (OMIM:611363)
Acro-cardio-facial syndrome (Orphanet:2008)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Aorta coarctation (Orphanet:1457)
Blackfan-Diamond anemia (Orphanet:124)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Buschke-Ollendorff syndrome (Orphanet:1306)
CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA (OMIM:212090)
CATEL-MANZKE SYNDROME (OMIM:616145)
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cardiomyopathy, dilated, 1S (OMIM:613426)
Catel-Manzke syndrome (Orphanet:1388)
Cholestasis - pigmentary retinopathy - cleft palate (Orphanet:1415)
Conotruncal heart malformations (Orphanet:2445)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Diabetic embryopathy (Orphanet:1926)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Floating-Harbor syndrome (Orphanet:2044)
Goldenhar syndrome (Orphanet:374)
Heart defect - tongue hamartoma - polysyndactyly (Orphanet:1338)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hypoplastic left heart syndrome (Orphanet:2248)
KABUKI SYNDROME 1 (OMIM:147920)
KABUKI SYNDROME 2 (OMIM:300867)
Kabuki syndrome (Orphanet:2322)
Linear nevus sebaceus syndrome (Orphanet:2612)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Matthew-Wood syndrome (Orphanet:2470)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mowat-Wilson syndrome (Orphanet:2152)
Multifocal atrial tachycardia (Orphanet:3282)
Myhre syndrome (Orphanet:2588)
NOONAN SYNDROME 1 (OMIM:163950)
Noonan syndrome (Orphanet:648)
Opitz G/BBB syndrome (Orphanet:2745)
PHACE syndrome (Orphanet:42775)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL (OMIM:610338)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Tetrasomy 12p (Orphanet:884)
Thrombocytopenia - absent radius (Orphanet:3320)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Transaldolase deficiency (Orphanet:101028)