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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 4 (C564640)
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:

7884

Name:

Nephronophthisis 4

Definition:

Alternative IDs:

OMIM:606966

ParentIDs:

MESH:D052177

TreeNumbers:

C12.777.419.403/C564640 |C13.351.968.419.403/C564640

Synonyms:

Nephronophthisis 4, Juvenile |NPHP4

Slim Mappings:

Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C564640
MeSH: C564640
OMIM: 606966;

Genes: NPHP4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001903	Anemia
3	HP:0001510	Growth delay
4	HP:0000090	Nephronophthisis
5	HP:0001959	Polydipsia
6	HP:0000103	Polyuria
7	HP:0000108	Renal corticomedullary cysts
8	HP:0000092	Renal tubular atrophy
9	HP:0003774	Stage 5 chronic kidney disease
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_015102.4(NPHP4):c.2972T>C (p.Phe991Ser)	261734	NPHP4	Pathogenic	28940891	RCV000003571;	N	MedGen:C1847013,OMIM:606966	1	5935006	5935006	NM_015102.4:c.2972T>C	NP_055917.1:p.Phe991Ser	NC_000001.10:g.5935006A>G	OMIM Allelic Variant:607215.0004	C1847013 606966 Nephronophthisis 4
NM_015102.4(NPHP4):c.2377C>T (p.Gln793Ter)	261734	NPHP4	Pathogenic	137852919	RCV000003569;	N	MedGen:C1847013,OMIM:606966	1	5947454	5947454	NM_015102.4:c.2377C>T	NP_055917.1:p.Gln793Ter	NC_000001.10:g.5947454G>A	OMIM Allelic Variant:607215.0002	C1847013 606966 Nephronophthisis 4
NM_015102.4(NPHP4):c.2368G>T (p.Glu790Ter)	261734	NPHP4	Pathogenic	137852918	RCV000003568;	N	MedGen:C1847013,OMIM:606966	1	5947463	5947463	NM_015102.4:c.2368G>T	NP_055917.1:p.Glu790Ter	NC_000001.10:g.5947463C>A	OMIM Allelic Variant:607215.0001	C1847013 606966 Nephronophthisis 4
NM_015102.4(NPHP4):c.2044C>T (p.Arg682Ter)	261734	NPHP4	Likely pathogenic;Pathogenic	137852920	RCV000003570; RCV000162133;	N	Human Phenotype Ontology:HP:0000789,MedGen:CN000737; MedGen:C1847013,OMIM:606966; MedGen:CN228268	1	5964776	5964776	NM_015102.4:c.2044C>T	NP_055917.1:p.Arg682Ter	NC_000001.10:g.5964776G>A	OMIM Allelic Variant:607215.0003	CN228268 Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities); CN000737 Infertility; C1847013 606966 Nephronophthisis 4