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Hello! Guest! Please Login or Register! Clinician Mode

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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Ataxia (D001259)
Parent Node: Vitamin E Deficiency (D014811)
..Starting node ..Ataxia with vitamin E deficiency (C535393)
Child Nodes:
Sister Nodes:
..Ataxia with vitamin E deficiency (C535393)
..Steatitis (D013231)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

996

Name:

Ataxia with vitamin E deficiency

Definition:

Alternative IDs:

OMIM:277460

ParentIDs:

MESH:D001259|MESH:D014811

TreeNumbers:

C10.597.350.090/C535393 |C18.654.521.500.133.841/C535393 |C23.888.592.350.090/C535393

Synonyms:

Slim Mappings:

Nervous system disease|Nutrition disorder|Signs and symptoms

Reference:

MedGen: C535393
MeSH: C535393
OMIM: 277460;

Genes: TTPA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001284	Areflexia
3	HP:0001251	Ataxia
4	HP:0003124	Hypercholesterolemia
5	HP:0002155	Hypertriglyceridemia
6	HP:0003141	Increased LDL cholesterol concentration
7	HP:0100513	Low levels of vitamin E
8	HP:0010874	Tendon xanthomatosis
9	HP:0001114	Xanthelasma

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_000370.3(TTPA):c.744delA (p.Glu249Asnfs)	7274	TTPA	Pathogenic	397515377	RCV000009707; RCV000055806;	N	MedGen:C1848533,OMIM:277460,ORPHA:96; MedGen:C4016662	8	63973904	63973904	NM_000370.3:c.744delA	NP_000361.1:p.Glu249Asnfs	NC_000008.10:g.63973904delT	OMIM Allelic Variant:600415.0001	C1848533 277460 Ataxia with vitamin E deficiency; C4016662 Ataxia, Friedreich-like, with isolated vitamin E deficiency
NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)	7274	TTPA	Pathogenic	397515526	RCV000055805;	N	MedGen:C1848533,OMIM:277460,ORPHA:96	8	63973912	63973912	NM_000370.3:c.736G>C	NP_000361.1:p.Gly246Arg	NC_000008.10:g.63973912C>G	-	C1848533 277460 Ataxia with vitamin E deficiency
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	7274	TTPA	Pathogenic	35916840	RCV000055804;	N	MedGen:C1848533,OMIM:277460,ORPHA:96	8	63976767	63976767	NM_000370.3:c.661C>T	NP_000361.1:p.Arg221Trp	NC_000008.10:g.63976767G>A	-	C1848533 277460 Ataxia with vitamin E deficiency
NM_000370.3(TTPA):c.575G>A (p.Arg192His)	7274	TTPA	Pathogenic	121917850	RCV000009711; RCV000055803;	N	MedGen:C1848533,OMIM:277460,ORPHA:96; MedGen:C4016662	8	63976853	63976853	NM_000370.3:c.575G>A	NP_000361.1:p.Arg192His	NC_000008.10:g.63976853C>T	OMIM Allelic Variant:600415.0005	C1848533 277460 Ataxia with vitamin E deficiency; C4016662 Ataxia, Friedreich-like, with isolated vitamin E deficiency
NM_000370.3(TTPA):c.548T>C (p.Leu183Pro)	7274	TTPA	Pathogenic	397515525	RCV000055802;	N	MedGen:C1848533,OMIM:277460,ORPHA:96	8	63978467	63978467	NM_000370.3:c.548T>C	NP_000361.1:p.Leu183Pro	NC_000008.10:g.63978467A>G	-	C1848533 277460 Ataxia with vitamin E deficiency
NM_000370.3(TTPA):c.513_514insTT (p.Thr172Leufs)	7274	TTPA	Pathogenic	397515379	RCV000009710; RCV000055800;	N	MedGen:C1848533,OMIM:277460,ORPHA:96; MedGen:C4016662	8	63978501	63978502	NM_000370.3:c.513_514insTT	NP_000361.1:p.Thr172Leufs	NC_000008.10:g.63978501_63978502insAA	OMIM Allelic Variant:600415.0004	C1848533 277460 Ataxia with vitamin E deficiency; C4016662 Ataxia, Friedreich-like, with isolated vitamin E deficiency
NM_000370.3(TTPA):c.487delT (p.Trp163Glyfs)	7274	TTPA	Likely pathogenic;Pathogenic	397515378	RCV000009709; RCV000169325;	N	MedGen:C1848533,OMIM:277460,ORPHA:96; MedGen:C4016662	8	63978528	63978528	NM_000370.3:c.487delT	NP_000361.1:p.Trp163Glyfs	NC_000008.10:g.63978528delA	OMIM Allelic Variant:600415.0003	C1848533 277460 Ataxia with vitamin E deficiency; C4016662 Ataxia, Friedreich-like, with isolated vitamin E deficiency
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)	7274	TTPA	Pathogenic	397515524	RCV000055798;	N	MedGen:C1848533,OMIM:277460,ORPHA:96	8	63978594	63978594	NM_000370.3:c.421G>A	NP_000361.1:p.Glu141Lys	NC_000008.10:g.63978594C>T	-	C1848533 277460 Ataxia with vitamin E deficiency
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	7274	TTPA	Likely pathogenic;Pathogenic	121917851	RCV000009712; RCV000055797;	N	MedGen:C1848533,OMIM:277460,ORPHA:96; MedGen:C4016662	8	63978615	63978615	NM_000370.3:c.400C>T	NP_000361.1:p.Arg134Ter	NC_000008.10:g.63978615G>A	OMIM Allelic Variant:600415.0006	C1848533 277460 Ataxia with vitamin E deficiency; C4016662 Ataxia, Friedreich-like, with isolated vitamin E deficiency
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	7274	TTPA	Pathogenic	143010236	RCV000055796;	N	MedGen:C1848533,OMIM:277460,ORPHA:96	8	63985494	63985494	NM_000370.3:c.358G>A	NP_000361.1:p.Ala120Thr	NC_000008.10:g.63985494C>T	-	C1848533 277460 Ataxia with vitamin E deficiency
NM_000370.3(TTPA):c.303T>G (p.His101Gln)	7274	TTPA	Pathogenic	121917849	RCV000009708; RCV000055795;	N	MedGen:C1848533,OMIM:277460,ORPHA:96; MedGen:C4016663	8	63985549	63985549	NM_000370.3:c.303T>G	NP_000361.1:p.His101Gln	NC_000008.10:g.63985549A>C	OMIM Allelic Variant:600415.0002	C4016663 Ataxia and retinitis pigmentosa with isolated vitamin e deficiency; C1848533 277460 Ataxia with vitamin E deficiency
NM_000370.3(TTPA):c.191A>G (p.Asp64Gly)	7274	TTPA	Pathogenic	397515523	RCV000055794;	N	MedGen:C1848533,OMIM:277460,ORPHA:96	8	63998390	63998390	NM_000370.3:c.191A>G	NP_000361.1:p.Asp64Gly	NC_000008.10:g.63998390T>C	-	C1848533 277460 Ataxia with vitamin E deficiency
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)	7274	TTPA	Pathogenic	397515522	RCV000055793;	N	MedGen:C1848533,OMIM:277460,ORPHA:96	8	63998406	63998406	NM_000370.3:c.175C>T	NP_000361.1:p.Arg59Trp	NC_000008.10:g.63998406G>A	-	C1848533 277460 Ataxia with vitamin E deficiency
NM_000370.3(TTPA):c.19delC (p.Gln7Serfs)	7274	TTPA	Pathogenic	760014795	RCV000190635;	N	MedGen:C1848533,OMIM:277460,ORPHA:96	8	63998562	63998562	NM_000370.3:c.19delC	NP_000361.1:p.Gln7Serfs		-	C1848533 277460 Ataxia with vitamin E deficiency
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)	7274	TTPA	Likely pathogenic	786204758	RCV000169618;	N	MedGen:C1848533,OMIM:277460,ORPHA:96	8	63998579	63998579	NM_000370.3:c.2T>C	NP_000361.1:p.Met1Thr	NC_000008.10:g.63998579A>G	-	C1848533 277460 Ataxia with vitamin E deficiency