Disease browser and phenotype portal

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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: Nephritis, Hereditary (D009394)
..Starting node ..Alport syndrome, dominant type (C536586)
Child Nodes:
Sister Nodes:
..Alport syndrome, dominant type (C536586)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Alport syndrome, recessive type (C536587)
..ALPORT SYNDROME, X-LINKED (OMIM:301050)
..Alport Syndrome-Like Hereditary Nephritis (C562890)
..Daentl Towsend Siegel syndrome (C535768)
..Deafness nephritis ano rectal malformation (C535996)
..Leiomyomatosis, esophageal and vulval, with nephropathy (C537113)
..Nephropathy, Progressive, with Deafness (C563713)
..Renal Failure, Progressive, with Hypertension (C562889)
..Salcedo syndrome (C537228)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

479

Name:

Alport syndrome, dominant type

Definition:

Alternative IDs:

OMIM:104200

ParentIDs:

MESH:D009394

TreeNumbers:

C12.706.742/C536586 |C12.777.419.570.620/C536586 |C13.351.875.742/C536586 |C13.351.968.419.570.620/C536586 |C16.131.939.742/C536586 |C17.300.200.517/C536586

Synonyms:

ALPORT SYNDROME, AUTOSOMAL DOMINANT |Renal failure, and sensorineural hearing loss

Slim Mappings:

Congenital abnormality|Connective tissue disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C536586
MeSH: C536586
OMIM: 104200;

Genes: COL4A3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001134	Anterior polar cataract
3	HP:0002157	Azotemia
4	HP:0030034	Glomerular basement membrane lamellation
5	HP:0000099	Glomerulonephritis
6	HP:0000790	Hematuria
7	HP:0000822	Hypertension
8	HP:0002148	Hypophosphatemia
9	HP:0001142	Lenticonus
10	HP:0000545	Myopia
11	HP:0000121	Nephrocalcinosis
12	HP:0000100	Nephrotic syndrome
13	HP:0003676	Progressive
14	HP:0000093	Proteinuria
15	HP:0000083	Renal insufficiency
16	HP:0000407	Sensorineural hearing impairment
17	HP:0003774	Stage 5 chronic kidney disease
18	HP:0004722	Thickened glomerular basement membrane

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	Disease_hgmd
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg)	-1	-	Pathogenic	267606745	RCV000019044;	N	MedGen:C1567743,OMIM:104200,ORPHA:88918	2	228159760	228159760	NM_000091.4:c.3499G>A	NP_000082.2:p.Gly1167Arg	NC_000002.11:g.228159760G>A	OMIM Allelic Variant:120070.0010	C1567743 104200 Alport syndrome, autosomal dominant