Congenital bile acid synthesis defect type 1

General Information (adopted from Orphanet):

Synonyms, Signs: 3-&#64
BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY
CBAS1
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
Number of Symptoms 37
OrphanetNr: 79301
OMIM Id: 607765
ICD-10: K76.8
UMLs: C1843116
MeSH: C535442
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
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:0000504) Abnormality of vision Occasional [Orphanet] 22 / 7739
2
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
3
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
4
 (HPO:0002910) Elevated hepatic transaminases Very frequent [Orphanet] 158 / 7739
5
 (HPO:0002014) Diarrhea 225 / 7739
6
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
7
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
8
 (HPO:0002570) Steatorrhea 31 / 7739
9
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
10
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
11
 (HPO:0000952) Jaundice 105 / 7739
12
 (HPO:0011985) Acholic stools 6 / 7739
13
 (HPO:0001399) Hepatic failure 80 / 7739
14
 (HPO:0001406) Intrahepatic cholestasis 16 / 7739
15
 (HPO:0001410) Decreased liver function Very frequent [Orphanet] 59 / 7739
16
 (HPO:0200084) Giant cell hepatitis 8 / 7739
17
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
18
 (HPO:0002239) Gastrointestinal hemorrhage Frequent [Orphanet] 97 / 7739
19
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
20
 (HPO:0001508) Failure to thrive 454 / 7739
21
 (HPO:0000989) Pruritus Occasional [Orphanet] 111 / 7739
22
 (HPO:0003010) Prolonged bleeding time Occasional [Orphanet] 88 / 7739
23
 (HPO:0003256) Abnormality of the coagulation cascade 19 / 7739
24
 (HPO:0001928) Abnormality of coagulation Frequent [Orphanet] 44 / 7739
25
 (HPO:0003146) Hypocholesterolemia 9 / 7739
26
 (HPO:0002904) Hyperbilirubinemia 32 / 7739
27
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
28
 (OMIM) Nonspecific inflammation shown on biopsy 1 / 7739
29
 (OMIM) Fibrosis shown on biopsy 1 / 7739
30
 (OMIM) Increased serum bilirubin 4 / 7739
31
 (OMIM) Normal serum levels of gamma-GGT (231950) 2 / 7739
32
 (OMIM) Decreased serum cholesterol 6 / 7739
33
 (HPO:0003623) Neonatal onset 22 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (OMIM) Progressive liver failure 4 / 7739
36
 (OMIM) Malabsorption of fat and fat-soluble vitamins 7 / 7739
37
 (OMIM) Coagulopathy secondary to liver disease 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to ...
Clinical Description OMIM Clayton et al. (1987) described a sibship of 5 children in which 3 had progressive liver disease starting in the neonatal period. The Saudi Arabian parents were first cousins. The jaundice in these infants was cholestatic in nature ...
Molecular genetics OMIM Schwarz et al. (2000) cloned the gene encoding 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase, which had been reported to be deficient in several patients with progressive neonatal cholestasis. The authors identified a homozygous 2-bp deletion in exon 6 of the HSD3B7 gene ...