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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Cholestasis (D002779)
Parent Node: Steroid Metabolism, Inborn Errors (D043202)
..Starting node ..Bile acid synthesis defect, congenital, 2 (C535443)
Child Nodes:
Sister Nodes:
..17-Hydroxysteroid Dehydrogenase Deficiency (C537805) 1
..Adrenal Hyperplasia, Congenital (D000312) 12
..Antley-Bixler Syndrome Phenotype (D054882) 2
..Bile acid synthesis defect, congenital, 1 (C535442)
..Bile acid synthesis defect, congenital, 2 (C535443)
..Bile Acid Synthesis Defect, Congenital, 3 (C566340)
..Cortisone reductase deficiency (C536447)
..Familial Glucocorticoid Deficiency 1 (C565974)
..Hypercholanemia, Familial (C564336)
..Ichthyosis, X-Linked (D016114) 2
..Lathosterolosis (C537880)
..Lyngstadaas syndrome (C537490)
..Mineralocorticoid Excess Syndrome, Apparent (D043204) 1
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Smith-Lemli-Opitz Syndrome (D019082) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1259

Name:

Bile acid synthesis defect, congenital, 2

Definition:

Alternative IDs:

OMIM:235555

ParentIDs:

MESH:D002779|MESH:D043202

TreeNumbers:

C06.130.120.135/C535443 |C16.320.565.925/C535443 |C18.452.648.925/C535443

Synonyms:

CBAS2 |Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency |Congenital Bile Acid Synthesis Defect Type 2 (CBAS2)

Slim Mappings:

Digestive system disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C535443
MeSH: C535443
OMIM: 235555;

Genes: AKR1D1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003623	Neonatal onset
3	HP:0003256	Abnormality of the coagulation cascade
4	HP:0002014	Diarrhea
5	HP:0003155	Elevated circulating alkaline phosphatase concentration
6	HP:0002910	Elevated hepatic transaminase
7	HP:0001508	Failure to thrive
8	HP:0001399	Hepatic failure
9	HP:0002240	Hepatomegaly
10	HP:0002904	Hyperbilirubinemia
11	HP:0001406	Intrahepatic cholestasis
12	HP:0000952	Jaundice
13	HP:0001744	Splenomegaly
14	HP:0002570	Steatorrhea

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_005989.3(AKR1D1):c.316C>T (p.Leu106Phe)	6718	AKR1D1	Pathogenic	121918343	RCV000005707;	N	MedGen:C1856127,OMIM:235555,ORPHA:79303	7	137776568	137776568	NM_005989.3:c.316C>T	NP_005980.1:p.Leu106Phe	NC_000007.13:g.137776568C>T	OMIM Allelic Variant:604741.0003	C1856127 235555 Bile acid synthesis defect, congenital, 2
NM_005989.3(AKR1D1):c.398C>G (p.Pro133Arg)	6718	AKR1D1	Pathogenic	267606649	RCV000005708;	N	MedGen:C1856127,OMIM:235555,ORPHA:79303	7	137782631	137782631	NM_005989.3:c.398C>G	NP_005980.1:p.Pro133Arg	NC_000007.13:g.137782631C>G	OMIM Allelic Variant:604741.0004	C1856127 235555 Bile acid synthesis defect, congenital, 2
NM_005989.3(AKR1D1):c.593C>T (p.Pro198Leu)	6718	AKR1D1	Pathogenic	121918342	RCV000005705;	N	MedGen:C1856127,OMIM:235555,ORPHA:79303	7	137791367	137791367	NM_005989.3:c.593C>T	NP_005980.1:p.Pro198Leu	NC_000007.13:g.137791367C>T	OMIM Allelic Variant:604741.0001	C1856127 235555 Bile acid synthesis defect, congenital, 2
NM_005989.3(AKR1D1):c.781C>T (p.Arg261Cys)	6718	AKR1D1	Pathogenic	267606650	RCV000005709;	N	MedGen:C1856127,OMIM:235555,ORPHA:79303	7	137792252	137792252	NM_005989.3:c.781C>T	NP_005980.1:p.Arg261Cys	NC_000007.13:g.137792252C>T	OMIM Allelic Variant:604741.0005	C1856127 235555 Bile acid synthesis defect, congenital, 2