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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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Disease Browser
Parent Node: Kidney Diseases, Cystic (D052177)
..Starting node ..Nephronophthisis 3 (C565780)
Child Nodes:
Sister Nodes:
..Baraitser Rodeck Garner syndrome (C537906)
..Brachymesomelia renal syndrome (C537096)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Cystic Kidney Disease with Ventriculomegaly (C565657)
..Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
..Joubert syndrome 1 (C536293)
..Joubert syndrome 2 (C536294)
..Joubert syndrome 4 (C536296)
..Joubert Syndrome 7 (C566916)
..Medullary Sponge Kidney (D007691) 1
..Multicystic Dysplastic Kidney (D021782) 2
..NEPHRONOPHTHISIS 11 (OMIM:613550)
..Nephronophthisis 2 (C566582)
..Nephronophthisis 3 (C565780)
..Nephronophthisis 4 (C564640)
..Nephronophthisis 7 (C566930)
..Nephronophthisis, familial juvenile (C537699)
..Polycystic Kidney Diseases (D007690) 21
..Renal cysts and diabetes syndrome (C535520)
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Senior Loken Syndrome (C537580)
..Senior-Loken Syndrome 3 (C564637)
..Senior-Loken syndrome 4 (C537581)
..Senior-Loken Syndrome 5 (C563763)
..Senior-Loken Syndrome 6 (C565708)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7883

Name:

Nephronophthisis 3

Definition:

Alternative IDs:

OMIM:604387

ParentIDs:

MESH:D052177

TreeNumbers:

C12.777.419.403/C565780 |C13.351.968.419.403/C565780

Synonyms:

Nephronophthisis, Adolescent |NPH3 |NPHP3

Slim Mappings:

Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C565780
MeSH: C565780
OMIM: 604387;

Genes: NPHP3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000805	Enuresis
3	HP:0001395	Hepatic fibrosis
4	HP:0000090	Nephronophthisis
5	HP:0001959	Polydipsia
6	HP:0000103	Polyuria
7	HP:0000108	Renal corticomedullary cysts
8	HP:0000083	Renal insufficiency
9	HP:0000092	Renal tubular atrophy
10	HP:0005576	Tubulointerstitial fibrosis

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_153240.4(NPHP3):c.3824_3826delGAG (p.Gly1275del)	-1	-	Pathogenic	119456959	RCV000002750;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006	3	132400921	132400923	NM_153240.4:c.3824_3826delGAG	NP_694972.3:p.Gly1275del	NC_000003.11:g.132400921_132400923delCTC	OMIM Allelic Variant:608002.0001	C1858392 604387 Adolescent nephronophthisis
NM_153240.4(NPHP3):c.3373C>T (p.Arg1125Ter)	-1	-	Pathogenic	368138001	RCV000176506; RCV000176505; RCV000082669;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006; MedGen:C2673883,OMIM:208540; MedGen:CN221809	3	132403595	132403595	NM_153240.4:c.3373C>T	NP_694972.3:p.Arg1125Ter	NC_000003.11:g.132403595G>A	HGMD:CM1211302	C1858392 604387 Adolescent nephronophthisis; CN221809 not provided; C2673883 208540 Renal-hepatic-pancreatic dysplasia
NM_153240.4(NPHP3):c.2994G>A (p.Trp998Ter)	-1	-	Pathogenic	794727349	RCV000176239;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006	3	132407625	132407625	NM_153240.4:c.2994G>A	NP_694972.3:p.Trp998Ter	NC_000003.11:g.132407625C>T	-	C1858392 604387 Adolescent nephronophthisis
NM_153240.4(NPHP3):c.2369T>C (p.Leu790Pro)	-1	-	Likely pathogenic	398124546	RCV000175247; RCV000175246; RCV000082664;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006; MedGen:C2673883,OMIM:208540; MedGen:CN221809	3	132411604	132411604	NM_153240.4:c.2369T>C	NP_694972.3:p.Leu790Pro	NC_000003.11:g.132411604A>G	-	C1858392 604387 Adolescent nephronophthisis; CN221809 not provided; C2673883 208540 Renal-hepatic-pancreatic dysplasia
NM_153240.4(NPHP3):c.2104C>T (p.Arg702Ter)	-1	-	Pathogenic	267606916	RCV000002759;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006	3	132415642	132415642	NM_153240.4:c.2104C>T	NP_694972.3:p.Arg702Ter	NC_000003.11:g.132415642G>A	OMIM Allelic Variant:608002.0009	C1858392 604387 Adolescent nephronophthisis
NM_153240.4(NPHP3):c.1729C>T (p.Arg577Ter)	-1	-	Pathogenic	119456962	RCV000174180; RCV000002755; RCV000174179; RCV000082662;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006; MedGen:C2673883,OMIM:208540; MedGen:C2673885,OMIM:267010,ORPHA:3032; MedGen:CN221809	3	132419192	132419192	NM_153240.4:c.1729C>T	NP_694972.3:p.Arg577Ter	NC_000003.11:g.132419192G>A	HGMD:CM081369,OMIM Allelic Variant:608002.0005	C1858392 604387 Adolescent nephronophthisis; C2673885 267010 Meckel syndrome type 7; CN221809 not provided; C2673883 208540 Renal-hepatic-pancreatic dysplasia
NM_153240.4(NPHP3):c.1381G>T (p.Glu461Ter)	-1	-	Pathogenic	119456961	RCV000002752;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006	3	132423185	132423185	NM_153240.4:c.1381G>T	NP_694972.3:p.Glu461Ter	NC_000003.11:g.132423185C>A	OMIM Allelic Variant:608002.0003	C1858392 604387 Adolescent nephronophthisis
NM_153240.4(NPHP3):c.1079G>C (p.Ser360Thr)	-1	-	Pathogenic	119456960	RCV000002751;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006	3	132432009	132432009	NM_153240.4:c.1079G>C	NP_694972.3:p.Ser360Thr	NC_000003.11:g.132432009C>G	OMIM Allelic Variant:608002.0002	C1858392 604387 Adolescent nephronophthisis
NM_153240.4(NPHP3):c.434_437delAAAG (p.Glu145Valfs)	-1	-	Pathogenic	763300393	RCV000175992; RCV000175991;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006; MedGen:C2673883,OMIM:208540	3	132438631	132438634	NM_153240.4:c.434_437delAAAG	NP_694972.3:p.Glu145Valfs	NC_000003.11:g.132438631_132438634delCTTT	-	C1858392 604387 Adolescent nephronophthisis; C2673883 208540 Renal-hepatic-pancreatic dysplasia
NM_153240.4(NPHP3):c.273delC (p.Tyr91Terfs)	-1	-	Pathogenic	758558609	RCV000173578; RCV000173579;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006; MedGen:C2673883,OMIM:208540	3	132440927	132440927	NM_153240.4:c.273delC	NP_694972.3:p.Tyr91Terfs	NC_000003.11:g.132440927delG	-	C1858392 604387 Adolescent nephronophthisis; C2673883 208540 Renal-hepatic-pancreatic dysplasia