Congenital bile acid synthesis defect type 3

General Information (adopted from Orphanet):

Synonyms, Signs: CBAS3
Oxysterol 7-alpha-hydroxylase deficiency
Number of Symptoms 29
OrphanetNr: 79302
OMIM Id: 613812
ICD-10: K76.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Bile acid synthesis defect with cholestasis and malabsorption
 -Rare genetic disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
2
 (HPO:0002239) Gastrointestinal hemorrhage Frequent [Orphanet] 97 / 7739
3
 (HPO:0000952) Jaundice 105 / 7739
4
 (HPO:0001410) Decreased liver function Very frequent [Orphanet] 59 / 7739
5
 (HPO:0001399) Hepatic failure Very frequent [Orphanet] 80 / 7739
6
 (HPO:0011985) Acholic stools 6 / 7739
7
 (HPO:0002570) Steatorrhea 31 / 7739
8
 (HPO:0002910) Elevated hepatic transaminases Very frequent [Orphanet] 158 / 7739
9
 (HPO:0001406) Intrahepatic cholestasis 16 / 7739
10
 (HPO:0001394) Cirrhosis 102 / 7739
11
 (HPO:0002612) Congenital hepatic fibrosis Very frequent [Orphanet] 16 / 7739
12
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
13
 (HPO:0012115) Hepatitis 24 / 7739
14
 (HPO:0002014) Diarrhea 225 / 7739
15
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
16
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
17
 (HPO:0001508) Failure to thrive 454 / 7739
18
 (HPO:0000989) Pruritus Frequent [Orphanet] 111 / 7739
19
 (HPO:0003256) Abnormality of the coagulation cascade 19 / 7739
20
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
21
 (OMIM) Malabsorption of fat and fat-soluble vitamins 7 / 7739
22
 (OMIM) Giant cell hepatitis seen on biopsy 1 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (OMIM) Coagulopathy secondary to liver disease 4 / 7739
25
 (OMIM) Fibrosis seen on biopsy 2 / 7739
26
 (OMIM) Nonspecific inflammation seen on biopsy 1 / 7739
27
 (OMIM) Progressive liver failure 4 / 7739
28
 (HPO:0003623) Neonatal onset 22 / 7739
29
 (OMIM) Increased serum bilirubin 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Setchell et al. (1998) described an inborn error of bile acid synthesis involving a deficiency in 7-alpha-hydroxylation in a male offspring of first-cousin Mexican parents. The patient developed jaundice at 6 days of age, which resolved with phototherapy. ...
Molecular genetics OMIM In a child with congenital bile acid synthesis defect-3, Setchell et al. (1998) identified a homozygous nonsense mutation in the CYP7B1 gene (R388X; 603711.0001).