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CBAS2
MCID: BLC008
MIFTS: 45
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Bile Acid Synthesis Defect, Congenital, 2 (CBAS2)
Categories:
Blood diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Bile Acid Synthesis Defect, Congenital, 2:
Inheritance:
Bile Acid Synthesis Defect, Congenital, 2:
Autosomal recessive 57
Congenital Bile Acid Synthesis Defect Type 2:
Autosomal recessive 58
Characteristics:Age Of Onset:
Congenital Bile Acid Synthesis Defect Type 2:
Infancy,Neonatal 58
Age Of Death:
Congenital Bile Acid Synthesis Defect Type 2:
infantile 58
OMIM®:57 (Updated 04-Aug-2022)
Miscellaneous:
neonatal onset favorable response to oral bile acid therapy caused by inborn error in bile acid synthesis Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Liver diseases Nephrological diseases Blood diseases Endocrine diseases Neuronal diseases Gastrointestinal diseases
ICD10:
32
Orphanet: 58
Rare hepatic diseases
Inborn errors of metabolism External Ids:
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MedlinePlus Genetics : 42 Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.The signs and symptoms of congenital bile acid synthesis defect type 2 often develop in infancy. Affected infants usually have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile. Excess fat in the feces (steatorrhea) is another feature of congenital bile acid synthesis defect type 2. As the condition progresses, affected individuals can develop liver abnormalities including inflammation or chronic liver disease (cirrhosis). Some individuals with congenital bile acid synthesis defect type 2 cannot absorb certain fat-soluble vitamins, which can result in softening and weakening of the bones (rickets) or problems with blood clotting that lead to prolonged bleeding.If left untreated, congenital bile acid synthesis defect type 2 typically leads to cirrhosis and death in childhood. MalaCards based summary : Bile Acid Synthesis Defect, Congenital, 2, also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency, is related to congenital bile acid synthesis defect and cholestasis, and has symptoms including diarrhea and icterus. An important gene associated with Bile Acid Synthesis Defect, Congenital, 2 is AKR1D1 (Aldo-Keto Reductase Family 1 Member D1), and among its related pathways/superpathways are Metabolism and Metabolism of steroids. Affiliated tissues include liver, skin and bone marrow, and related phenotypes are giant cell hepatitis and failure to thrive Disease Ontology : 11 A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has material basis in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. GARD : 19 Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Orphanet : 58 Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. UniProtKB/Swiss-Prot : 73 A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. |
Human phenotypes related to Bile Acid Synthesis Defect, Congenital, 2:58 30 (show all 32)
Symptoms via clinical synopsis from OMIM®:57 (Updated 04-Aug-2022)Clinical features from OMIM®:235555 (Updated 04-Aug-2022)UMLS symptoms related to Bile Acid Synthesis Defect, Congenital, 2:diarrhea; icterus |
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Cochrane evidence based reviews: bile acid synthesis defect, congenital, 2 |
Organs/tissues related to Bile Acid Synthesis Defect, Congenital, 2:
MalaCards :
Liver,
Skin,
Bone Marrow,
Bone
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Articles related to Bile Acid Synthesis Defect, Congenital, 2:(show all 11)
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Genes related to Bile Acid Synthesis Defect, Congenital, 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Bile Acid Synthesis Defect, Congenital, 2:5 (show top 50) (show all 109)
UniProtKB/Swiss-Prot genetic disease variations for Bile Acid Synthesis Defect, Congenital, 2:73
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Search
GEO
for disease gene expression data for Bile Acid Synthesis Defect, Congenital, 2.
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Pathways related to Bile Acid Synthesis Defect, Congenital, 2 according to GeneCards Suite gene sharing:
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Cellular components related to Bile Acid Synthesis Defect, Congenital, 2 according to GeneCards Suite gene sharing:
Biological processes related to Bile Acid Synthesis Defect, Congenital, 2 according to GeneCards Suite gene sharing:
Molecular functions related to Bile Acid Synthesis Defect, Congenital, 2 according to GeneCards Suite gene sharing:
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