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

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Mitral Valve Prolapse (D008945)
Parent Node: Myxoma (D009232)
..Starting node ..Cardiac valvular dysplasia, X-linked (C535576)
Child Nodes:
Sister Nodes:
..Atrial myxoma, familial (C538262)
..Cardiac valvular dysplasia, X-linked (C535576)
..Carney Complex (D056733) 1
..Neurothekeoma (D018321)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1698

Name:

Cardiac valvular dysplasia, X-linked

Definition:

Alternative IDs:

OMIM:314400

ParentIDs:

MESH:D006330|MESH:D008945|MESH:D009232|MESH:D040181

TreeNumbers:

C04.557.450.565.550/C535576 |C14.240.400/C535576 |C14.280.400/C535576 |C14.280.484.400.500/C535576 |C16.131.240.400/C535576 |C16.320.322/C535576

Synonyms:

CVD1 |Myxomatous valvular dystrophy, X-linked |Valvular heart disease, congenital |XMVD

Slim Mappings:

Cancer|Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: C535576
MeSH: C535576
OMIM: 314400;

Genes: FLNA;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0001659	Aortic regurgitation
4	HP:0001635	Congestive heart failure
5	HP:0001653	Mitral regurgitation
6	HP:0001634	Mitral valve prolapse
7	HP:0011580	Short chordae tendineae of the mitral valve
8	HP:0006692	Short chordae tendineae of the tricuspid valve
9	HP:0005180	Tricuspid regurgitation

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_001456.3(FLNA):c.4726G>A (p.Gly1576Arg)	2316	FLNA	Likely pathogenic	797045044	RCV000191086;	N	MedGen:C0262436,OMIM:314400,ORPHA:1864	X	153586596	153586596	NM_001456.3:c.4726G>A	NP_001447.2:p.Gly1576Arg	NC_000023.10:g.153586596C>T	-	C0262436 314400 Cardiac valvular dysplasia, X-linked
NG_011506.1:g.15883_17827del1945insTG	2316	FLNA	Pathogenic	-1	RCV000012546;	N	MedGen:C0262436,OMIM:314400,ORPHA:1864	X	153590180	153592124	-	-		OMIM Allelic Variant:300017.0033,dbVar:nssv3761605,dbVar:nsv1067923	C0262436 314400 Cardiac valvular dysplasia, X-linked
NM_001110556.1(FLNA):c.2132T>A (p.Val711Asp)	2316	FLNA	Pathogenic	267606817	RCV000012545;	N	MedGen:C0262436,OMIM:314400,ORPHA:1864	X	153592631	153592631	NM_001110556.1:c.2132T>A	NP_001104026.1:p.Val711Asp	NC_000023.10:g.153592631A>T	OMIM Allelic Variant:300017.0032	C0262436 314400 Cardiac valvular dysplasia, X-linked
NM_001110556.1(FLNA):c.1923C>T (p.Gly641=)	2316	FLNA	Pathogenic	80338841	RCV000020423; RCV000012536;	N	MedGen:C0262436,OMIM:314400,ORPHA:1864; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153592993	153592993	NM_001110556.1:c.1923C>T	NP_001104026.1:p.Gly641=	NC_000023.10:g.153592993G>A	OMIM Allelic Variant:300017.0024	C0262436 314400 Cardiac valvular dysplasia, X-linked; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.1910C>A (p.Pro637Gln)	2316	FLNA	Pathogenic	267606815	RCV000012543;	N	MedGen:C0262436,OMIM:314400,ORPHA:1864	X	153593006	153593006	NM_001110556.1:c.1910C>A	NP_001104026.1:p.Pro637Gln	NC_000023.10:g.153593006G>T	OMIM Allelic Variant:300017.0030	C0262436 314400 Cardiac valvular dysplasia, X-linked
NM_001110556.1(FLNA):c.862G>A (p.Gly288Arg)	2316	FLNA	Pathogenic	267606816	RCV000012544;	N	MedGen:C0262436,OMIM:314400,ORPHA:1864	X	153595771	153595771	NM_001110556.1:c.862G>A	NP_001104026.1:p.Gly288Arg	NC_000023.10:g.153595771C>T	OMIM Allelic Variant:300017.0031	C0262436 314400 Cardiac valvular dysplasia, X-linked