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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, 3 (C566340)
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:

1260

Name:

Bile Acid Synthesis Defect, Congenital, 3

Definition:

Alternative IDs:

ParentIDs:

MESH:D002779|MESH:D043202

TreeNumbers:

C06.130.120.135/C566340 |C16.320.565.925/C566340 |C18.452.648.925/C566340

Synonyms:

Congenital Bile Acid Synthesis Defect Type 3 (CBAS3)

Slim Mappings:

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

Reference:

MedGen: C566340
MeSH: C566340
OMIM: 613812;

Genes: CYP7B1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003623	Neonatal onset
3	HP:0003256	Abnormality of the coagulation cascade
4	HP:0011985	Acholic stools
5	HP:0001394	Cirrhosis
6	HP:0002014	Diarrhea
7	HP:0003155	Elevated circulating alkaline phosphatase concentration
8	HP:0002910	Elevated hepatic transaminase
9	HP:0001508	Failure to thrive
10	HP:0001399	Hepatic failure
11	HP:0012115	Hepatitis
12	HP:0002240	Hepatomegaly
13	HP:0001406	Intrahepatic cholestasis
14	HP:0000952	Jaundice
15	HP:0001744	Splenomegaly
16	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	Disease_hgmd
NM_004820.3(CYP7B1):c.1162C>T (p.Arg388Ter)	9420	CYP7B1	Pathogenic	72554620	RCV000006473; RCV000006474;	N	MedGen:C1849115,OMIM:270800; MedGen:C3151147,OMIM:613812,ORPHA:79302	8	65517310	65517310	NM_004820.3:c.1162C>T	NP_004811.1:p.Arg388Ter	NC_000008.10:g.65517310G>A	OMIM Allelic Variant:603711.0001	C3151147 613812 Bile acid synthesis defect, congenital, 3; C1849115 270800 Spastic paraplegia 5A