Disease browser and phenotype portal

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MSeqDR-LSDB
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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: Autoimmune Diseases (D001327)
Parent Node: Glomerulonephritis (D005921)
..Starting node ..Glomerulonephritis, IGA (D005922)
Child Nodes:
........Fitzsimmons Walson Mellor syndrome (C537937)
Sister Nodes:
..Anti-Glomerular Basement Membrane Disease (D019867)
..Glomerulonephritis, IGA (D005922) 1
..Glomerulonephritis, Membranoproliferative (D015432) 6
..Glomerulonephritis, Membranous (D015433)
..Glomerulopathy with Giant Fibrillar Deposits (C562900)
..Glomerulosclerosis, Focal Segmental (D005923) 4
..Lupus Nephritis (D008181)
..Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..Rapidly progressive glomerulonephritis with pulmonary hemorrhage (C538458)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4656

Name:

Glomerulonephritis, IGA

Definition:

A chronic form of glomerulonephritis characterized by deposits of predominantly IMMUNOGLOBULIN A in the mesangial area (GLOMERULAR MESANGIUM). Deposits of COMPLEMENT C3 and IMMUNOGLOBULIN G are also often found. Clinical features may progress from asymptomatic HEMATURIA to END-STAGE KIDNEY DISEASE.

Alternative IDs:

OMIM:161950|OMIM:613944

ParentIDs:

MESH:D001327|MESH:D005921

TreeNumbers:

C12.777.419.570.363.608 |C13.351.968.419.570.363.608 |C20.111.525

Synonyms:

Slim Mappings:

Immune system disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: D005922
MeSH: D005922
OMIM: 161950;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002829	Arthralgia	HP:0040283
3	HP:0001425	Heterogeneous
4	HP:0000822	Hypertension
5	HP:0000794	IgA deposition in the glomerulus
6	HP:0000123	Nephritis
7	HP:0000093	Proteinuria
8	HP:0000979	Purpura
9	HP:0003774	Stage 5 chronic kidney disease

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_002644.3(PIGR):c.1739C>T (p.Ala580Val)	5284	PIGR	Uncertain significance	291102	RCV000014481;	N	Gene:60498,MedGen:C0017661,OMIM:161950	1	207106478	207106478	NM_002644.3:c.1739C>T	NP_002635.2:p.Ala580Val	NC_000001.10:g.207106478G>A	OMIM Allelic Variant:173880.0001	C0017661 161950 Berger disease