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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: Steroid Metabolism, Inborn Errors (D043202)
..Starting node ..Hypercholanemia, Familial (C564336)
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:

5360

Name:

Hypercholanemia, Familial

Definition:

Alternative IDs:

OMIM:607748

ParentIDs:

MESH:D043202

TreeNumbers:

C16.320.565.925/C564336 |C18.452.648.925/C564336

Synonyms:

FHCA

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C564336
MeSH: C564336
OMIM: 607748;

Genes: BAAT; EPHX1; TJP2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001508	Failure to thrive
3	HP:0012202	Increased serum bile acid concentration
4	HP:0011892	Low levels of vitamin K
5	HP:0000989	Pruritus
6	HP:0002748	Rickets
7	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_001701.3(BAAT):c.226A>G (p.Met76Val)	570	BAAT	Pathogenic	28937579	RCV000007112;	N	MedGen:C1843139,OMIM:607748,ORPHA:238475	9	104133461	104133461	NM_001701.3:c.226A>G	NP_001692.1:p.Met76Val	NC_000009.11:g.104133461T>C	OMIM Allelic Variant:602938.0001	C1843139 607748 Hypercholanemia, familial
NM_004817.3(TJP2):c.143T>C (p.Val48Ala)	9414	TJP2	Pathogenic	121918299	RCV000003041;	N	MedGen:C1843139,OMIM:607748,ORPHA:238475	9	71831283	71831283	NM_004817.3:c.143T>C	NP_004808.2:p.Val48Ala	NC_000009.11:g.71831283T>C	OMIM Allelic Variant:607709.0001	C1843139 607748 Hypercholanemia, familial