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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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Disease Browser
Parent Node: Dextrocardia (D003914)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Heterotaxy Syndrome (D059446)
..Starting node ..Heterotaxy, visceral, X-linked (C538116)
Child Nodes:
Sister Nodes:
..Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome (C565249)
..Heterotaxy, Visceral, 3, Autosomal (C565237)
..Heterotaxy, visceral, X-linked (C538116)
..Heterotaxy, Visceroatrial, Autosomal Recessive (C566864)
..Laterality Defects, Autosomal Dominant (C563391)
..Left-Right Axis Malformations (C566610)
..Polyasplenia (C566862)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5159

Name:

Heterotaxy, visceral, X-linked

Definition:

Alternative IDs:

OMIM:306955

ParentIDs:

MESH:D003914|MESH:D040181|MESH:D059446

TreeNumbers:

C14.240.400.280/C538116 |C14.240.400.592/C538116 |C14.280.400.280/C538116 |C14.280.400.592/C538116 |C15.604.744.146/C538116 |C16.131.077.401/C538116 |C16.131.240.400.280/C538116 |C16.131.240.400.592/C538116 |C16.131.810.250/C538116 |C16.320.322/C538116

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C538116
MeSH: C538116
OMIM: 306955;

Genes: ZIC3;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0001419	X-linked recessive inheritance
3	HP:0003363	Abdominal situs inversus
4	HP:0001746	Asplenia
5	HP:0001631	Atrial septal defect
6	HP:0001640	Cardiomegaly
7	HP:0011565	Common atrium
8	HP:0001651	Dextrocardia
9	HP:0001508	Failure to thrive
10	HP:0000316	Hypertelorism
11	HP:0011560	Mitral atresia
12	HP:0001643	Patent ductus arteriosus
13	HP:0003812	Phenotypic variability
14	HP:0001748	Polysplenia
15	HP:0012890	Posteriorly placed anus
16	HP:0001642	Pulmonic stenosis
17	HP:0000104	Renal agenesis
18	HP:0001750	Single ventricle
19	HP:0001669	Transposition of the great arteries
20	HP:0001629	Ventricular septal defect

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_003413.3(ZIC3):c.49G>T (p.Gly17Cys)	7547	ZIC3	Benign;Pathogenic	147232392	RCV000198780; RCV000201846;	N	MedGen:C1839115,OMIM:314390; MedGen:C1844020,OMIM:306955	X	136648899	136648899	NM_003413.3:c.49G>T	NP_003404.1:p.Gly17Cys	NC_000023.10:g.136648899G>T	-	C1844020 306955 Heterotaxy, visceral, X-linked; C1839115 314390 VACTERL association with hydrocephaly, X-linked
NM_003413.3(ZIC3):c.745C>T (p.Gln249Ter)	7547	ZIC3	Pathogenic	104894960	RCV000012189;	N	MedGen:C1844020,OMIM:306955	X	136649595	136649595	NM_003413.3:c.745C>T	NP_003404.1:p.Gln249Ter	NC_000023.10:g.136649595C>T	OMIM Allelic Variant:300265.0004	C1844020 306955 Heterotaxy, visceral, X-linked
NM_003413.3(ZIC3):c.758G>C (p.Cys253Ser)	7547	ZIC3	Pathogenic	104894961	RCV000012190;	N	MedGen:C1844020,OMIM:306955	X	136649608	136649608	NM_003413.3:c.758G>C	NP_003404.1:p.Cys253Ser	NC_000023.10:g.136649608G>C	OMIM Allelic Variant:300265.0005	C1844020 306955 Heterotaxy, visceral, X-linked
NM_003413.3(ZIC3):c.763T>G (p.Trp255Gly)	7547	ZIC3	Pathogenic	122463168	RCV000012194;	N	MedGen:C1844020,OMIM:306955	X	136649613	136649613	NM_003413.3:c.763T>G	NP_003404.1:p.Trp255Gly	NC_000023.10:g.136649613T>G	OMIM Allelic Variant:300265.0009	C1844020 306955 Heterotaxy, visceral, X-linked
NM_003413.3(ZIC3):c.804C>A (p.Cys268Ter)	7547	ZIC3	Pathogenic	122462166	RCV000012187;	N	MedGen:C1844020,OMIM:306955	X	136649654	136649654	NM_003413.3:c.804C>A	NP_003404.1:p.Cys268Ter	NC_000023.10:g.136649654C>A	OMIM Allelic Variant:300265.0002	C1844020 306955 Heterotaxy, visceral, X-linked
NM_003413.3(ZIC3):c.968C>T (p.Thr323Met)	7547	ZIC3	Pathogenic	122462165	RCV000012186;	N	MedGen:C1844020,OMIM:306955	X	136649818	136649818	NM_003413.3:c.968C>T	NP_003404.1:p.Thr323Met	NC_000023.10:g.136649818C>T	OMIM Allelic Variant:300265.0001	C1844020 306955 Heterotaxy, visceral, X-linked
NM_003413.3(ZIC3):c.1213A>G (p.Lys405Glu)	7547	ZIC3	Pathogenic	104894962	RCV000012191;	N	MedGen:C1844020,OMIM:306955	X	136651213	136651213	NM_003413.3:c.1213A>G	NP_003404.1:p.Lys405Glu	NC_000023.10:g.136651213A>G	OMIM Allelic Variant:300265.0006	C1844020 306955 Heterotaxy, visceral, X-linked