Nephronopthisis malady

MalaCards: Nephronopthisis, also known as nephronophthisis, is related to nephronophthisis and nephronophthisis 4. An important gene associated with Nephronopthisis is SCAMP3 (secretory carrier membrane protein 3). Related mouse phenotype renal/urinary system.

nephronopthisis 8 nephronophthisis 43

Diseases related to nephronopthisis by text searches and GeneDecks gene sharing:

(show all 45)

id	Related Disease	Score	Top Affiliating Genes
1	nephronophthisis	33.5	NPHP1, NPHP4, NPHP3, UMOD
2	nephronophthisis 4	30.4	NPHP1, NPHP4
3	nephronophthisis 1	30.4	NPHP3, NPHP4, NPHP1
4	senior-loken syndrome	30.3	NPHP1, NPHP3, NPHP4
5	joubert syndrome	29.4	NPHP4, NPHP1
6	polycystic kidney disease	27.6	NPHP3, UMOD
7	cystic kidney	26.8	ANKS6, NPHP4, UMOD, NPHP3, NPHP1
8	apraxia	26.2	NPHP3, NPHP1, NPHP4
9	situs inversus	26.1	NPHP4, NPHP3, NPHP1
10	retinal degeneration	26.0	NPHP4, NPHP3, NPHP1
11	fibrous dysplasia	25.8	UMOD, NPHP1
12	rhyns syndrome	25.4	NPHP1, NPHP4, NPHP3
13	asphyxiating thoracic dystrophy	12.6	NPHP1, NPHP4
14	intellectual disability	12.2	APPL1, HRAS, NPHP1
15	familial juvenile hyperuricemic nephropathy	11.9	UMOD, NPHP1, NPHP4
16	anemia	11.6	CCT3, RHBG, NPHP1, NPHP4, NPHP3
17	primary hyperoxaluria	10.8	ANKS6, UMOD, NPHP1, NPHP3, HRAS, NPHP4
18	kidney disease	7.2
19	nephronophthisis 3	7.2
20	nephronophthisis11	7.2
21	nephronophthisis-like nephropathy 1	6.9
22	fibrosis	6.9
23	nephronophthisis 2	6.9
24	nephronophthisis 7	6.9
25	nephronophthisis 9	6.9
26	nephronophthisis familial adult spastic quadriparesis	6.5
27	nephronophthisis 8	6.5
28	nephronophthisis 2, infantile	6.5
29	nephronophthisis 1, juvenile	6.5
30	retinitis	6.5
31	hepatitis	6.0
32	senior-loken syndrome multi-gene panels	6.0
33	leber congenital amaurosis	5.1
34	liver fibrosis	5.1
35	nephropathy	5.1
36	nphp1-related joubert syndrome	5.1
37	nphp3-related meckel syndrome	5.1
38	nephritis	5.1
39	retinitis pigmentosa	5.1
40	senior-løken syndrome	5.1
41	alsing syndrome	5.1
42	ulcerative colitis	5.1
43	cone-rod dystrophy	5.1
44	frasier syndrome	5.1
45	gonadal dysgenesis	5.1

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to nephronopthisis:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	8.0	UMOD, HRAS, NPHP1, NPHP3, NPHP4

Articles related to nephronopthisis:

id	Title	Authors	Year	Affiliating Genes
1	Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy. (16762963)	Caridi G.... Ghiggeri G.M.	2006	NPHP1

Genes related to nephronopthisis according to GeneCards:

(show all 12)

id	Symbol	Description	Score	GeneCards Section Context
1	SCAMP3	secretory carrier membrane protein 3	11.0	Disorders
2	RHBG	Rh family, B glycoprotein (gene/pseudogene)	11.0
3	NPHP3	nephronophthisis 3 (adolescent)	11.0
4	ANKS6	ankyrin repeat and sterile alpha motif domain containing 6	11.0
5	APPL1	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	11.0	Disorders
6	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	11.0	Disorders
7	NPHP1	nephronophthisis 1 (juvenile)	11.0	Publications
8	NPHP4	nephronophthisis 4	11.0
9	GON4L	gon-4-like (C. elegans)	11.0	Disorders
10	CCT3	chaperonin containing TCP1, subunit 3 (gamma)	11.0
11	UMOD	uromodulin	11.0
12	HRAS	v-Ha-ras Harvey rat sarcoma viral oncogene homolog	11.0

Cellular components related to nephronopthisis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	primary cilium	GO:072372	9.4	UMOD, NPHP3

Biological processes related to nephronopthisis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	visual behavior	GO:007632	9.6	NPHP1, NPHP4
2	retina development in camera-type eye	GO:060041	9.6	NPHP1, NPHP4
3	actin cytoskeleton organization	GO:030036	9.0	HRAS, NPHP1, NPHP4
4	excretion	GO:007588	8.9	UMOD, NPHP1