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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Hypoparathyroidism (D007011)
Parent Node: Nephrosis (D009401)
..Starting node ..Barakat syndrome (C537907)
Child Nodes:
Sister Nodes:
..Barakat syndrome (C537907)
..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
..Galloway Mowat syndrome (C537548)
..Nephrosialidosis (C562606)
..Nephrosis deafness urinary tract digital malformation (C536402)
..Nephrosis, Lipoid (D009402)
..Nephrotic Syndrome (D009404) 14
..Pulmonic Stenosis and Congenital Nephrosis (C562895)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1150

Name:

Barakat syndrome

Definition:

Alternative IDs:

OMIM:146255

ParentIDs:

MESH:D006319|MESH:D007011|MESH:D009401

TreeNumbers:

C09.218.458.341.887/C537907 |C10.597.751.418.341.887/C537907 |C12.777.419.630/C537907 |C13.351.968.419.630/C537907 |C19.642.482/C537907 |C23.888.592.763.393.341.887/C537907

Synonyms:

Slim Mappings:

Reference:

MedGen: C537907
MeSH: C537907
OMIM: 146255;

Genes: GATA3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0012622	Chronic kidney disease
3	HP:0000829	Hypoparathyroidism
4	HP:0000100	Nephrotic syndrome
5	HP:0000110	Renal dysplasia
6	HP:0000407	Sensorineural hearing impairment
7	HP:0001153	Septate vagina	HP:0040283
8	HP:0004722	Thickened glomerular basement membrane
9	HP:0003762	Uterus didelphys	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_001002295.1(GATA3):c.823T>A (p.Trp275Arg)	2625	GATA3	Pathogenic	104894163	RCV000018103;	N	MedGen:C1840333,OMIM:146255,ORPHA:2237	10	8106000	8106000	NM_001002295.1:c.823T>A	NP_001002295.1:p.Trp275Arg	NC_000010.10:g.8106000T>A	OMIM Allelic Variant:131320.0006	C1840333 146255 Barakat syndrome
NM_001002295.1(GATA3):c.829C>T (p.Arg277Ter)	2625	GATA3	Pathogenic	104894162	RCV000018102;	N	MedGen:C1840333,OMIM:146255,ORPHA:2237	10	8106006	8106006	NM_001002295.1:c.829C>T	NP_001002295.1:p.Arg277Ter	NC_000010.10:g.8106006C>T	OMIM Allelic Variant:131320.0005	C1840333 146255 Barakat syndrome
NM_001002295.1(GATA3):c.924+2delTinsGCTTACTTCCC	2625	GATA3	Pathogenic	387906551	RCV000018108;	N	MedGen:C1840333,OMIM:146255,ORPHA:2237	10	8106103	8106103	NM_001002295.1:c.924+2delTinsGCTTACTTCCC		NC_000010.10:g.8106103delTinsGCTTACTTCCC	OMIM Allelic Variant:131320.0011	C1840333 146255 Barakat syndrome
NM_001002295.1(GATA3):c.1025G>A (p.Cys342Tyr)	2625	GATA3	Pathogenic	387906621	RCV000022539;	N	MedGen:C1840333,OMIM:146255,ORPHA:2237	10	8111536	8111536	NM_001002295.1:c.1025G>A	NP_001002295.1:p.Cys342Tyr	NC_000010.10:g.8111536G>A	OMIM Allelic Variant:131320.0014	C1840333 146255 Barakat syndrome
NM_001002295.1(GATA3):c.1059A>T (p.Arg353Ser)	2625	GATA3	Pathogenic	104894165	RCV000018109;	N	MedGen:C1840333,OMIM:146255,ORPHA:2237	10	8115710	8115710	NM_001002295.1:c.1059A>T	NP_001002295.1:p.Arg353Ser	NC_000010.10:g.8115710A>T	OMIM Allelic Variant:131320.0012	C1840333 146255 Barakat syndrome
NM_001002295.1(GATA3):c.1099C>T (p.Arg367Ter)	2625	GATA3	Pathogenic	104894164	RCV000018105;	N	MedGen:C1840333,OMIM:146255,ORPHA:2237	10	8115750	8115750	NM_001002295.1:c.1099C>T	NP_001002295.1:p.Arg367Ter	NC_000010.10:g.8115750C>T	OMIM Allelic Variant:131320.0008	C1840333 146255 Barakat syndrome