Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

Switch to table view
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, recessive type (C536587)
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:

482

Name:

Alport syndrome, recessive type

Definition:

Alternative IDs:

OMIM:203780

ParentIDs:

MESH:D009394

TreeNumbers:

C12.706.742/C536587 |C12.777.419.570.620/C536587 |C13.351.875.742/C536587 |C13.351.968.419.570.620/C536587 |C16.131.939.742/C536587 |C17.300.200.517/C536587

Synonyms:

ALPORT SYNDROME, AUTOSOMAL RECESSIVE

Slim Mappings:

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

Reference:

MedGen: C536587
MeSH: C536587
OMIM: 203780;

Genes: COL4A3; COL4A4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011501	Anterior lenticonus
3	HP:0000518	Cataract
4	HP:0200020	Corneal erosion
5	HP:0030034	Glomerular basement membrane lamellation
6	HP:0000365	Hearing impairment
7	HP:0000790	Hematuria
8	HP:0001425	Heterogeneous
9	HP:0000822	Hypertension
10	HP:0000545	Myopia
11	HP:0000123	Nephritis
12	HP:0000100	Nephrotic syndrome
13	HP:0003676	Progressive
14	HP:0000093	Proteinuria
15	HP:0000083	Renal insufficiency
16	HP:0003774	Stage 5 chronic kidney disease
17	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
NM_000091.4(COL4A3):c.687G>A (p.Arg229=)	-1	-	Pathogenic	869025324	RCV000207840;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	228118053	228118053	NM_000091.4:c.687G>A	NP_000082.2:p.Arg229=	NC_000002.11:g.228118053G>A	-	C1567744 203780 Alport syndrome, autosomal recessive
NM_000091.4(COL4A3):c.3490G>T (p.Gly1164Cys)	-1	-	Pathogenic	869025325	RCV000207840;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	228159751	228159751	NM_000091.4:c.3490G>T	NP_000082.2:p.Gly1164Cys	NC_000002.11:g.228118053G>A	-	C1567744 203780 Alport syndrome, autosomal recessive
NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter)	-1	-	Pathogenic	121912824	RCV000019036;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	228172614	228172614	NM_000091.4:c.4441C>T	NP_000082.2:p.Arg1481Ter	NC_000002.11:g.228172614C>T	OMIM Allelic Variant:120070.0002	C1567744 203780 Alport syndrome, autosomal recessive
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter)	-1	-	Pathogenic	121912825	RCV000019037;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	228173723	228173723	NM_000091.4:c.4571C>G	NP_000082.2:p.Ser1524Ter	NC_000002.11:g.228173723C>G	OMIM Allelic Variant:120070.0003	C1567744 203780 Alport syndrome, autosomal recessive
NM_000091.4(COL4A3):c.40_63del24 (p.Leu14_Leu21del)	1285	COL4A3	Pathogenic	-1	RCV000172875;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	228029482	228029505	NM_000091.4:c.40_63del24	NP_000082.2:p.Leu14_Leu21del		OMIM Allelic Variant:120070.0011	C1567744 203780 Alport syndrome, autosomal recessive
NM_000092.4(COL4A4):c.4923C>A (p.Cys1641Ter)	1286	COL4A4	Pathogenic	121912862	RCV000018951;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	227872191	227872191	NM_000092.4:c.4923C>A	NP_000083.3:p.Cys1641Ter	NC_000002.11:g.227872191G>T	OMIM Allelic Variant:120131.0005	C1567744 203780 Alport syndrome, autosomal recessive
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu)	1286	COL4A4	Pathogenic	121912863	RCV000018952;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	227872828	227872828	NM_000092.4:c.4715C>T	NP_000083.3:p.Pro1572Leu	NC_000002.11:g.227872828G>A	OMIM Allelic Variant:120131.0006	C1567744 203780 Alport syndrome, autosomal recessive
NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter)	1286	COL4A4	Pathogenic	121912861	RCV000018950;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	227886851	227886851	NM_000092.4:c.4129C>T	NP_000083.3:p.Arg1377Ter	NC_000002.11:g.227886851G>A	OMIM Allelic Variant:120131.0004	C1567744 203780 Alport syndrome, autosomal recessive
NM_000092.4(COL4A4):c.3713C>A (p.Ser1238Ter)	1286	COL4A4	Pathogenic	121912859	RCV000018948;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	227896765	227896765	NM_000092.4:c.3713C>A	NP_000083.3:p.Ser1238Ter	NC_000002.11:g.227896765G>T	OMIM Allelic Variant:120131.0002	C1567744 203780 Alport syndrome, autosomal recessive
NM_000092.4(COL4A4):c.3601G>A (p.Gly1201Ser)	1286	COL4A4	Pathogenic	121912858	RCV000018947;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	227896969	227896969	NM_000092.4:c.3601G>A	NP_000083.3:p.Gly1201Ser	NC_000002.11:g.227896969C>T	OMIM Allelic Variant:120131.0001	C1567744 203780 Alport syndrome, autosomal recessive
NM_000092.4(COL4A4):c.2320G>C (p.Gly774Arg)	1286	COL4A4	Pathogenic	569681869	RCV000207535;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	227924184	227924184	NM_000092.4:c.2320G>C	NP_000083.3:p.Gly774Arg	NC_000002.11:g.227924184C>G	-	C1567744 203780 Alport syndrome, autosomal recessive
NM_000092.4(COL4A4):c.1320_1369+2del	1286	COL4A4	Pathogenic	-1	RCV000207535;	N	MedGen:C1567744,OMIM:203780,ORPHA:88919	2	227958839	227958890	NM_000092.4:c.1320_1369+2del		NC_000002.11:g.227924184C>G	-	C1567744 203780 Alport syndrome, autosomal recessive