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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: Hyperlipoproteinemias (D006951)
..Starting node ..Hypercholesterolemia, Autosomal Dominant, 3 (C566337)
Child Nodes:
Sister Nodes:
..Apolipoprotein C-III Deficiency (C566270)
..Chylomicronemia, Familial, due to Circulating Inhibitor of Lipoprotein Lipase (C566126)
..HYPERALPHALIPOPROTEINEMIA 1 (OMIM:143470)
..Hypercholesterolemia, Autosomal Dominant, 3 (C566337)
..Hyperlipoproteinemia Type I (D008072) 1
..Hyperlipoproteinemia Type II (D006938) 4
..Hyperlipoproteinemia Type III (D006952)
..Hyperlipoproteinemia Type IV (D006953)
..Hyperlipoproteinemia Type V (D006954)
..Hyperlipoproteinemia, Type II, and Deafness (C564170)
..Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia (C563617)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5362

Name:

Hypercholesterolemia, Autosomal Dominant, 3

Definition:

Alternative IDs:

OMIM:603776

ParentIDs:

MESH:D006951

TreeNumbers:

C18.452.584.500.500.644/C566337

Synonyms:

FH3 |FH3 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED |HCHOLA3 |LDLCQ1, INCLUDED

Slim Mappings:

Metabolic disease

Reference:

MedGen: C566337
MeSH: C566337
OMIM: 603776;

Genes: PCSK9;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance	HP:0040280
2	HP:0003124	Hypercholesterolemia	HP:0040280

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_174936.3(PCSK9):c.137G>T (p.Arg46Leu)	255738	PCSK9	Benign;association	11591147	RCV000203182; RCV000003012;	N	MedGen:C1863551,OMIM:603776; MedGen:CN068586	1	55505647	55505647	NM_174936.3:c.137G>T	NP_777596.2:p.Arg46Leu	NC_000001.10:g.55505647G>T	OMIM Allelic Variant:607786.0006	C1863551 603776 Hypercholesterolemia, autosomal dominant, 3; CN068586 Low density lipoprotein cholesterol level quantitative trait locus 1
NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg)	255738	PCSK9	Pathogenic	28942111	RCV000003007;	N	MedGen:C1863551,OMIM:603776	1	55509689	55509689	NM_174936.3:c.381T>A	NP_777596.2:p.Ser127Arg	NC_000001.10:g.55509689T>A	OMIM Allelic Variant:607786.0001	C1863551 603776 Hypercholesterolemia, autosomal dominant, 3
NM_174936.3(PCSK9):c.646T>C (p.Phe216Leu)	255738	PCSK9	Pathogenic	28942112	RCV000003008;	N	MedGen:C1863551,OMIM:603776	1	55518073	55518073	NM_174936.3:c.646T>C	NP_777596.2:p.Phe216Leu	NC_000001.10:g.55518073T>C	OMIM Allelic Variant:607786.0002	C1863551 603776 Hypercholesterolemia, autosomal dominant, 3
NM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr)	255738	PCSK9	Pathogenic	137852912	RCV000003009;	N	MedGen:C1863551,OMIM:603776	1	55523127	55523127	NM_174936.3:c.1120G>T	NP_777596.2:p.Asp374Tyr	NC_000001.10:g.55523127G>T	OMIM Allelic Variant:607786.0003	C1863551 603776 Hypercholesterolemia, autosomal dominant, 3