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

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: Nephrotic Syndrome (D009404)
..Starting node ..NEPHROTIC SYNDROME, TYPE 4 (OMIM:256370)
Child Nodes:
Sister Nodes:
..Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome (C565852)
..Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type (C562683)
..Feigenbaum Bergeron Richardson syndrome (C536178)
..Hutterite cerebroosteonephrodysplasia syndrome (C536074)
..Mesangial sclerosis, diffuse (C537346)
..Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..Nephrosis, congenital (C535761)
..Nephrotic syndrome ocular anomalies (C536403)
..Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..Nephrotic syndrome, idiopathic, steroid-resistant (C536404)
..NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
..NEPHROTIC SYNDROME, TYPE 4 (OMIM:256370)
..Pierson syndrome (C537185)
..Schimke immunoosseous dysplasia (C536629)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7904

Name:

NEPHROTIC SYNDROME, TYPE 4

Definition:

Alternative IDs:

ParentIDs:

MESH:D009404

TreeNumbers:

C12.777.419.630.643/256370 |C13.351.968.419.630.643/256370

Synonyms:

NPHS4

Slim Mappings:

Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: 256370
MeSH: 256370
OMIM: 256370;

Genes: WT1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0011463	Childhood onset
4	HP:0001967	Diffuse mesangial sclerosis
5	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283
6	HP:0002667	Nephroblastoma
7	HP:0000100	Nephrotic syndrome
8	HP:0003676	Progressive
9	HP:0000083	Renal insufficiency

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_024426.4(WT1):c.1432+4C>T	7490	WT1	Pathogenic	587776577	RCV000003674; RCV000003675; RCV000157584;	N	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002; MedGen:C0950122,OMIM:136680,ORPHA:347,SNOMED CT:445431000; MedGen:CN043611	11	32413514	32413514	NM_024426.4:c.1432+4C>T		11:g.32413514G>A	OMIM Allelic Variant:607102.0018	C0268747 256370 Diffuse mesangial sclerosis; C0950122 136680 Frasier syndrome; CN043611 Hereditary Nephrotic Syndromes
NM_024426.4(WT1):c.1390G>A (p.Asp464Asn)	7490	WT1	Pathogenic	28941778	RCV000003661; RCV000003662;	N	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002; MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32413560	32413560	NM_024426.4:c.1390G>A	NP_077744.3:p.Asp464Asn	NC_000011.9:g.32413560C>T	OMIM Allelic Variant:607102.0006,OMIM Allelic Variant:607102.0023	C0268747 256370 Diffuse mesangial sclerosis; C0950121 194080 Drash syndrome
NM_024426.4(WT1):c.1384C>T (p.Arg462Trp)	7490	WT1	Pathogenic	121907900	RCV000003656; RCV000003657; RCV000003658;	N	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002; MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009; MedGen:C1837026,OMIM:608978,ORPHA:3097	11	32413566	32413566	NM_024426.4:c.1384C>T	NP_077744.3:p.Arg462Trp	NC_000011.9:g.32413566G>A	OMIM Allelic Variant:607102.0003	C0268747 256370 Diffuse mesangial sclerosis; C0950121 194080 Drash syndrome; C1837026 608978 Meacham syndrome
NM_024426.4(WT1):c.1351T>C (p.Phe451Leu)	7490	WT1	Pathogenic	28941777	RCV000003677;	N	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002	11	32413599	32413599	NM_024426.4:c.1351T>C	NP_077744.3:p.Phe451Leu	NC_000011.9:g.32413599A>G	OMIM Allelic Variant:607102.0022	C0268747 256370 Diffuse mesangial sclerosis
NM_024426.4(WT1):c.1333C>T (p.His445Tyr)	7490	WT1	Pathogenic	28942089	RCV000003667; RCV000003668;	N	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002; MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32414218	32414218	NM_024426.4:c.1333C>T	NP_077744.3:p.His445Tyr	NC_000011.9:g.32414218G>A	OMIM Allelic Variant:607102.0012,OMIM Allelic Variant:607102.0021	C0268747 256370 Diffuse mesangial sclerosis; C0950121 194080 Drash syndrome