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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

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Disease Browser
Parent Node: Cataract (D002386)
Parent Node: Iron Metabolism Disorders (D019189)
..Starting node ..Hyperferritinemia, hereditary, with congenital cataracts (C538137)
Child Nodes:
Sister Nodes:
..Anemia, Iron-Deficiency (D018798) 1
..Familial apoceruloplasmin deficiency (C536004)
..Heme Oxygenase 1 Deficiency (C564200)
..Hyperferritinemia, hereditary, with congenital cataracts (C538137)
..Iron Overload (D019190) 12
..NBIA2B (C565699)
..Neurodegeneration with brain iron accumulation (NBIA) (C538421) 2
..Neuroferritinopathy (C548080)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5372

Name:

Hyperferritinemia, hereditary, with congenital cataracts

Definition:

Alternative IDs:

OMIM:600886

ParentIDs:

MESH:D002386|MESH:D019189

TreeNumbers:

C11.510.245/C538137 |C18.452.565/C538137

Synonyms:

Slim Mappings:

Eye disease|Metabolic disease

Reference:

MedGen: C538137
MeSH: C538137
OMIM: 600886;

Genes: FTL;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003281	Increased circulating ferritin concentration
3	HP:0008024	obsolete Congenital nuclear cataract
4	HP:0010693	Pulverulent cataract	HP:0040283

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_000146.3(FTL):c.-190_-162del29	2512	FTL	Pathogenic	-1	RCV000017942;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468575	49468603	NM_000146.3:c.-190_-162del29			OMIM Allelic Variant:134790.0005	C1833213 600886 Hyperferritinemia cataract syndrome
NM_000146.3(FTL):c.-178_-173delTCTGTC	2512	FTL	Pathogenic	398124639	RCV000017948;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468587	49468592	NM_000146.3:c.-178_-173delTCTGTC		NC_000019.9:g.49468587_49468592delTCTGTC	OMIM Allelic Variant:134790.0011	C1833213 600886 Hyperferritinemia cataract syndrome
NM_000146.3(FTL):c.-168G>A	2512	FTL	Pathogenic	398124635	RCV000017940;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468597	49468597	NM_000146.3:c.-168G>A		NC_000019.9:g.49468597G>A,NC_000019.9:g.49468597G>C,NC_000019.9:g.49468597G>T	OMIM Allelic Variant:134790.0003	C1833213 600886 Hyperferritinemia cataract syndrome
NM_000146.3(FTL):c.-168G>T	2512	FTL	Pathogenic	398124635	RCV000017943;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468597	49468597	NM_000146.3:c.-168G>T		NC_000019.9:g.49468597G>A,NC_000019.9:g.49468597G>C,NC_000019.9:g.49468597G>T	OMIM Allelic Variant:134790.0006	C1833213 600886 Hyperferritinemia cataract syndrome
NM_000146.3(FTL):c.-168G>C	2512	FTL	Pathogenic	398124635	RCV000017949;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468597	49468597	NM_000146.3:c.-168G>C		NC_000019.9:g.49468597G>A,NC_000019.9:g.49468597G>C,NC_000019.9:g.49468597G>T	OMIM Allelic Variant:134790.0012	C1833213 600886 Hyperferritinemia cataract syndrome
NM_000146.3(FTL):c.-164C>A	2512	FTL	Pathogenic	398124637	RCV000017945;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468601	49468601	NM_000146.3:c.-164C>A		NC_000019.9:g.49468601C>A,NC_000019.9:g.49468601C>T	OMIM Allelic Variant:134790.0008	C1833213 600886 Hyperferritinemia cataract syndrome
NM_000146.3(FTL):c.-164C>T	2512	FTL	Pathogenic	398124637	RCV000082859;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468601	49468601	NM_000146.3:c.-164C>T		NC_000019.9:g.49468601C>A,NC_000019.9:g.49468601C>T	OMIM Allelic Variant:134790.0020	C1833213 600886 Hyperferritinemia cataract syndrome
NM_000146.3(FTL):c.-161C>T	2512	FTL	Pathogenic	398124636	RCV000017944;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468604	49468604	NM_000146.3:c.-161C>T		NC_000019.9:g.49468604C>T	OMIM Allelic Variant:134790.0007	C1833213 600886 Hyperferritinemia cataract syndrome
NM_000146.3(FTL):c.-160A>G	2512	FTL	Pathogenic	398124633	RCV000017938;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468605	49468605	NM_000146.3:c.-160A>G		NC_000019.9:g.49468605A>G	OMIM Allelic Variant:134790.0001	C1833213 600886 Hyperferritinemia cataract syndrome
NM_000146.3(FTL):c.-159G>C	2512	FTL	Pathogenic	398124634	RCV000017939;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468606	49468606	NM_000146.3:c.-159G>C		NC_000019.9:g.49468606G>C	OMIM Allelic Variant:134790.0002	C1833213 600886 Hyperferritinemia cataract syndrome
NM_000146.3(FTL):c.-149G>C	2512	FTL	Pathogenic	398124638	RCV000017946;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468616	49468616	NM_000146.3:c.-149G>C		NC_000019.9:g.49468616G>C	OMIM Allelic Variant:134790.0009	C1833213 600886 Hyperferritinemia cataract syndrome
NM_000146.3(FTL):c.89C>T (p.Thr30Ile)	2512	FTL	Pathogenic	397514540	RCV000032783;	N	MedGen:C1833213,OMIM:600886,ORPHA:163	19	49468853	49468853	NM_000146.3:c.89C>T	NP_000137.2:p.Thr30Ile	NC_000019.9:g.49468853C>T	OMIM Allelic Variant:134790.0017	C1833213 600886 Hyperferritinemia cataract syndrome