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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

Disease Browser
Parent Node: Kidney Diseases, Cystic (D052177)
..Starting node ..Nephronophthisis, familial juvenile (C537699)
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:

7886

Name:

Nephronophthisis, familial juvenile

Definition:

Alternative IDs:

OMIM:256100

ParentIDs:

MESH:D052177

TreeNumbers:

C12.777.419.403/C537699 |C13.351.968.419.403/C537699

Synonyms:

Slim Mappings:

Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C537699
MeSH: C537699
OMIM: 256100;

Genes: NPHP1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001903	Anemia
3	HP:0001510	Growth delay
4	HP:0000822	Hypertension
5	HP:0003158	Hyposthenuria
6	HP:0000090	Nephronophthisis
7	HP:0001959	Polydipsia
8	HP:0000103	Polyuria
9	HP:0000108	Renal corticomedullary cysts
10	HP:0000092	Renal tubular atrophy
11	HP:0003774	Stage 5 chronic kidney disease
12	HP:0005583	Tubular basement membrane disintegration
13	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	Disease_hgmd
NM_000272.3(NPHP1):c.1027G>A (p.Gly343Arg)	4867	NPHP1	Pathogenic	121907899	RCV000003685;	N	MedGen:C1855681,OMIM:256100	2	110920625	110920625	NM_000272.3:c.1027G>A	NP_000263.2:p.Gly343Arg	NC_000002.11:g.110920625C>T	OMIM Allelic Variant:607100.0004	C1855681 256100 Nephronophthisis 1
NM_000272.3(NPHP1):c.80T>A (p.Leu27Ter)	4867	NPHP1	Pathogenic	121907898	RCV000003684;	N	MedGen:C1855681,OMIM:256100	2	110959061	110959061	NM_000272.3:c.80T>A	NP_000263.2:p.Leu27Ter	NC_000002.11:g.110959061A>T	OMIM Allelic Variant:607100.0003	C1855681 256100 Nephronophthisis 1