HDCA
MCID: HRT039
MIFTS: 48
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Heart Defects, Congenital, and Other Congenital Anomalies (HDCA)
Categories:
Endocrine diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Heart Defects, Congenital, and Other Congenital Anomalies:
Characteristics:Orphanet epidemiological data:58
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems HPO:31
heart defects, congenital, and other congenital anomalies:
Inheritance autosomal dominant inheritance Classifications:
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2255 Definition Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus , and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). Epidemiology It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). Genetic counseling The syndrome appears to be inherited as an autosomal dominant trait . Visit the Orphanet disease page for more resources.
MalaCards based summary : Heart Defects, Congenital, and Other Congenital Anomalies, also known as pancreatic agenesis and congenital heart defects, is related to diabetes mellitus, 6q24-related transient neonatal and atp8b1 deficiency. An important gene associated with Heart Defects, Congenital, and Other Congenital Anomalies is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Affiliated tissues include heart, liver and lung, and related phenotypes are exocrine pancreatic insufficiency and ventricular septal defect Disease Ontology : 12 A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has material basis in heterozygous mutation in GATA6 on chromosome 18q11.2. KEGG : 36 Pancreatic agenesis and congenital heart disease is a rare autosomal dominant disorder characterized by neonatal diabetes with pancreatic hypoplasia and congenital heart disease. Mutations in GATA6 has been linked to this disease. GATA6 is expressed during the embryogenesis of a variety of endodermally derived organs, including the heart, pancreas, ovary, lung, and liver. UniProtKB/Swiss-Prot : 73 Pancreatic agenesis and congenital heart defects: An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot.
More information from OMIM:
600001
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Human phenotypes related to Heart Defects, Congenital, and Other Congenital Anomalies:58 31 (show top 50) (show all 52)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:600001MGI Mouse Phenotypes related to Heart Defects, Congenital, and Other Congenital Anomalies:45
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MalaCards organs/tissues related to Heart Defects, Congenital, and Other Congenital Anomalies:40
Heart,
Liver,
Lung,
Pancreas,
Ovary,
Colon,
Pituitary
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Articles related to Heart Defects, Congenital, and Other Congenital Anomalies:
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ClinVar genetic disease variations for Heart Defects, Congenital, and Other Congenital Anomalies:6 (show all 12)
UniProtKB/Swiss-Prot genetic disease variations for Heart Defects, Congenital, and Other Congenital Anomalies:73
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Search
GEO
for disease gene expression data for Heart Defects, Congenital, and Other Congenital Anomalies.
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Pathways related to Heart Defects, Congenital, and Other Congenital Anomalies according to GeneCards Suite gene sharing:(show all 13)
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Cellular components related to Heart Defects, Congenital, and Other Congenital Anomalies according to GeneCards Suite gene sharing:
Biological processes related to Heart Defects, Congenital, and Other Congenital Anomalies according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Heart Defects, Congenital, and Other Congenital Anomalies according to GeneCards Suite gene sharing:(show all 12)
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