Nephronophthisis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MedlinePlus Genetics: ⁴² Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.

MalaCards based summary: Nephronophthisis, also known as medullary cystic disease, is related to nephronophthisis 1 and senior-loken syndrome 1. An important gene associated with Nephronophthisis is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. The drug Coal tar has been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and eye, and related phenotypes are abnormality of retinal pigmentation and renal insufficiency

Orphanet: ⁵⁸ A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.

GARD: ¹⁹ A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, cystic renal disease and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.

Disease Ontology: ¹¹ A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).

Wikipedia ⁷⁵ Nephronophthisis: Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a... more...

Medullary cystic disease: Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by... more...

GeneReviews: NBK368475

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Related Diseases for Nephronophthisis

Diseases in the Nephronophthisis family:

Nephronophthisis 1	Nephronophthisis 2
Nephronophthisis 3	Nephronophthisis 4
Nephronophthisis 7	Nephronophthisis 11
Nephronophthisis 12	Nephronophthisis 9
Nephronophthisis 13	Nephronophthisis 14
Nephronophthisis 15	Nephronophthisis 16
Nephronophthisis 18	Nephronophthisis 19
Nephronophthisis 20	Infantile Nephronophthisis
Juvenile Nephronophthisis	Late-Onset Nephronophthisis

Diseases related to Nephronophthisis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 355)

#	Related Disease	Score	Top Affiliating Genes
1	nephronophthisis 1	33.5	NPHP4 NPHP3 NPHP1 INVS AHI1
2	senior-loken syndrome 1	33.4	TTC21B-AS1 TTC21B NPHP4 NPHP3 NPHP1 IQCB1
3	juvenile nephronophthisis	33.4	TTC21B-AS1 TTC21B RMND1 NPHP4 NPHP3-AS1 NPHP3-ACAD11
4	nephronophthisis 2	33.4	TTC21B-AS1 TTC21B NPHP4 NPHP3 NPHP1 IQCB1
5	nephronophthisis 9	33.3	TTC21B NPHP4 NPHP3 IQCB1 INVS CEP290
6	nephronophthisis 11	33.3	NPHP4 IQCB1 CEP290 ANKS6
7	nephronophthisis 19	33.3	NPHP4 NPHP3 NPHP1 IQCB1 INVS CEP290
8	nephronophthisis 3	33.2	NPHP3-AS1 NPHP3-ACAD11 NPHP3
9	nephronophthisis 18	33.2	NPHP4 NPHP1 CEP164 ANKS6
10	nephronophthisis 14	33.2	NPHP4 NPHP1 IQCB1 INVS CEP164
11	nephronophthisis 16	33.2	IQCB1 INVS CEP290 ANKS6
12	nephronophthisis 7	33.1	NPHP4 IQCB1 INVS
13	nephronophthisis 20	33.1	NPHP1 CEP164
14	nephronophthisis 12	33.1	TTC21B-AS1 TTC21B NPHP4 IQCB1
15	nephronophthisis 15	33.1	INVS CEP164
16	infantile nephronophthisis	33.1	TTC21B-AS1 TTC21B NPHP3 INVS ANKS6
17	cranioectodermal dysplasia	32.7	TTC21B NPHP4 NPHP1 IQCB1 INVS IFT172
18	joubert syndrome 1	32.6	TTC21B NPHP4 NPHP3-AS1 NPHP3-ACAD11 NPHP3 NPHP1
19	joubert syndrome 5	32.3	NPHP4 NPHP3 NPHP1 IQCB1 CEP290 C12orf29
20	arima syndrome	32.2	NPHP4 CEP290
21	cystic kidney disease	32.1	TTC21B NPHP4 NPHP3 NPHP1 IQCB1 INVS
22	end stage renal disease	32.0	TTC21B NPHP4 NPHP3 INVS
23	retinitis pigmentosa	31.8	TTC21B NPHP4 NPHP3 NPHP1 MKKS LOC105371046
24	polycystic kidney disease	31.7	TTC21B NPHP4 NPHP3-ACAD11 NPHP3 NPHP1 MKKS
25	retinal degeneration	31.6	TTC21B NPHP4 NPHP1 MKKS IFT172 CEP290
26	situs inversus	31.5	TTC21B NPHP4 NPHP3 NPHP1 IQCB1 INVS
27	meckel syndrome, type 1	31.5	TTC21B NPHP4 NPHP3 NPHP1 MKKS IQCB1
28	leber plus disease	31.5	TTC21B NPHP4 NPHP3 NPHP1 MKKS IQCB1
29	cone-rod dystrophy 2	31.4	NPHP4 NPHP3 NPHP1 MKKS LOC105371046 IQCB1
30	fundus dystrophy	31.3	TTC21B-AS1 TTC21B NPHP4 NPHP3 NPHP1 MKKS
31	polycystic kidney disease 4 with or without polycystic liver disease	31.3	TTC21B NPHP4 NPHP3 NPHP1 IQCB1 INVS
32	asphyxiating thoracic dystrophy	31.3	TTC21B-AS1 TTC21B NPHP4 NPHP3 NPHP1 LOC105371046
33	short-rib thoracic dysplasia 1 with or without polydactyly	31.2	TTC21B-AS1 TTC21B NPHP1 LOC105371046 INVS IFT172
34	apraxia	31.2	NPHP1 CEP290 AHI1
35	interstitial nephritis	31.2	INVS CEP164 ANKS6
36	coach syndrome 1	31.2	TTC21B NPHP4 NPHP3 NPHP1 IQCB1 INVS
37	bardet-biedl syndrome	31.1	TTC21B NPHP4 NPHP3 NPHP1 MKKS IQCB1
38	autosomal dominant polycystic kidney disease	31.1	TTC21B NPHP4 NPHP3 NPHP1 IQCB1 INVS
39	polydactyly	31.0	TTC21B NPHP3 MKKS IFT172 IFT140 CEP290
40	short-rib thoracic dysplasia 9 with or without polydactyly	31.0	TTC21B LOC105371046 IFT172 IFT140
41	coloboma of macula	30.9	TTC21B NPHP4 NPHP1 IQCB1 CEP290 AHI1
42	bardet-biedl syndrome 11	30.9	MKKS IQCB1 IFT172 CEP290
43	hydrocephalus	30.9	NPHP4 NPHP3 NPHP1 IQCB1 INVS
44	tubulointerstitial kidney disease, autosomal dominant, 1	30.8	NPHP4 NPHP3 NPHP1
45	oculomotor apraxia	30.8	NPHP1 AHI1
46	cogan syndrome	30.8	NPHP4 NPHP1 IQCB1 CEP290 AHI1
47	caroli disease	30.7	NPHP3 NPHP1 INVS
48	joubert syndrome 24	30.7	NPHP1 CEP290 CEP164 AHI1
49	primary ciliary dyskinesia	30.7	TTC21B NPHP4 NPHP3 NPHP1 IQCB1 INVS
50	joubert syndrome 3	30.6	TTC21B NPHP4 NPHP3 NPHP1 IQCB1 INVS

Graphical network of the top 20 diseases related to Nephronophthisis:

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Symptoms & Phenotypes for Nephronophthisis

Human phenotypes related to Nephronophthisis:

⁵⁸ ³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormality of retinal pigmentation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007703
2	renal insufficiency ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000083
3	anemia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001903

MGI Mouse Phenotypes related to Nephronophthisis:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.22	ADAMTS9 AHI1 CEP164 CEP290 IFT140 IFT172
2	growth/size/body region	MP:0005378	10.22	ADAMTS9 AHI1 ANKS6 CEP164 CEP290 IFT140
3	renal/urinary system	MP:0005367	10.16	AHI1 ANKS6 CEP290 IFT140 IFT172 INVS
4	cellular	MP:0005384	10.07	ADAMTS9 AHI1 ANKS6 CEP164 CEP290 IFT140
5	embryo	MP:0005380	9.97	ADAMTS9 ANKS6 CEP164 IFT140 IFT172 INVS
6	cardiovascular system	MP:0005385	9.93	ADAMTS9 ANKS6 CEP164 CEP290 IFT140 IFT172
7	craniofacial	MP:0005382	9.92	ADAMTS9 CEP164 CEP290 IFT140 IFT172 MKKS
8	limbs/digits/tail	MP:0005371	9.91	ADAMTS9 IFT140 IFT172 MKKS NPHP1 TTC21B
9	respiratory system	MP:0005388	9.5	ANKS6 CEP164 CEP290 IFT140 IFT172 INVS
10	vision/eye	MP:0005391	9.28	ADAMTS9 AHI1 CEP290 IFT140 IFT172 IQCB1

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Drugs & Therapeutics for Nephronophthisis

Drugs for Nephronophthisis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Coal tar

Approved

8007-45-2

Interventional clinical trials:

#	Name	Status	NCT ID
1	Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis	Completed	NCT01022957
2	Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis	Recruiting	NCT04874909
3	Evaluation of Performance and Safety of App KidneYou, an Innovative Digital Therapy, in Improving Health of Patients With Chronic Kidney Disease (CKD) by Increasing Their Adherence to Dietary, Exercise Regimens or Mindfulness Program	Recruiting	NCT05286632
4	Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))	Recruiting	NCT01401998

Search NIH Clinical Center for Nephronophthisis

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Genetic Tests for Nephronophthisis

Genetic tests related to Nephronophthisis:

#	Genetic test	Affiliating Genes
1	Nephronophthisis ²⁸	IFT172

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Anatomical Context for Nephronophthisis

Organs/tissues related to Nephronophthisis:

MalaCards : Kidney, Liver, Eye, Heart, Pancreas, Endothelial, Retina

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Publications for Nephronophthisis

Articles related to Nephronophthisis:

(show top 50) (show all 1178)

#	Title	Authors	PMID	Year
1	Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. ⁶² ²⁴ ⁵	Schueler M...Hildebrandt F	26673778	2016
2	Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. ⁶² ²⁴ ⁵	Braun DA...Hildebrandt F	26489029	2016
3	A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. ⁶² ²⁴ ⁵	Huynh Cong E...Antignac C	24876116	2014
4	Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. ⁶² ²⁴ ⁵	Lindstrand A...Katsanis N	24746959	2014
5	Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. ⁶² ²⁴ ⁵	Halbritter J...GPN Study Group	23559409	2013
6	Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. ⁶² ²⁴ ⁵	Chaki M...Hildebrandt F	21866095	2011
7	TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. ⁶² ²⁴ ⁵	Davis EE...Katsanis N	21258341	2011
8	Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. ⁶² ²⁴ ⁵	Otto EA...GPN Study Group	21068128	2011
9	Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. ⁶² ²⁴ ⁵	Stone EM...Jacobson SG	21220633	2011
10	CEP290, a gene with many faces: mutation overview and presentation of CEP290base. ⁶² ²⁴ ⁵	Coppieters F...De Baere E	20690115	2010
11	Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. ⁶² ²⁴ ⁵	Tory K...Salomon R	19177160	2009
12	Nephronophthisis: disease mechanisms of a ciliopathy. ⁶² ²⁴ ⁵	Hildebrandt F...Otto E	19118152	2009
13	Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. ⁶² ²⁴ ⁵	Bergmann C...Omran H	18371931	2008
14	Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. ⁶² ²⁴ ⁵	Otto EA...Hildebrandt F	18076122	2008
15	Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. ⁶² ²⁴ ⁵	Helou J...Hildebrandt F	17617513	2007
16	Evidence of oligogenic inheritance in nephronophthisis. ⁶² ²⁴ ⁵	Hoefele J...Hildebrandt F	17855640	2007
17	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. ⁶² ²⁴ ⁵	Arts HH...Roepman R	17558407	2007
18	High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. ⁶² ²⁴ ⁵	Tory K...Saunier S	17409309	2007
19	Retinitis pigmentosa and renal failure in a patient with mutations in INVS. ⁶² ²⁴ ⁵	O'Toole JF...Hildebrandt F	16522655	2006
20	The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. ⁶² ²⁴ ⁵	Sayer JA...Hildebrandt F	16682973	2006
21	Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. ⁶² ²⁴ ⁵	Roepman R...Cremers FP	16339905	2005
22	Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. ⁶² ²⁴ ⁵	Otto EA...Hildebrandt F	15723066	2005
23	The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. ⁶² ²⁴ ⁵	Parisi MA...Glass IA	15138899	2004
24	Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. ⁶² ²⁴ ⁵	Otto EA...Hildebrandt F	12872123	2003
25	Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. ⁶² ²⁴ ⁵	Olbrich H...Omran H	12872122	2003
26	A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. ⁶² ²⁴ ⁵	Otto E...Hildebrandt F	12205563	2002
27	The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. ⁶² ²⁴ ⁵	Mollet G...Saunier S	12244321	2002
28	Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. ⁶² ²⁴ ⁵	Betz R...Hildebrandt F	10839884	2000
29	Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. ⁶² ²⁴ ⁵	Omran H...Hildebrandt F	10631142	2000
30	A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. ⁶² ²⁴ ⁵	Hildebrandt F...Brandis M	9326933	1997
31	Joubert syndrome: genotyping a Northern European patient cohort. ²⁴ ⁵	Kroes HY...van Haaften G	25920555	2016
32	Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. ²⁴ ⁵	McInerney-Leo AM...Duncan EL	25492405	2015
33	12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. ²⁴ ⁵	Molin A...Leporrier N	23954617	2013
34	A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. ²⁴ ⁵	Littink KW...den Hollander AI	20130272	2010
35	Expanding CEP290 mutational spectrum in ciliopathies. ²⁴ ⁵	Travaglini L...Viskochil D	19764032	2009
36	Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. ²⁴ ⁵	Frank V...Bergmann C	17705300	2008
37	Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. ²⁴ ⁵	Baala L...Attie-Bitach T	17564974	2007
38	Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. ²⁴ ⁵	den Hollander AI...Cremers FP	16909394	2006
39	Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. ²⁴ ⁵	Valente EM...Gleeson JG	16682970	2006
40	Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. ⁶² ⁵	Choi YJ...Hildebrandt F	30609407	2019
41	Prospective Evaluation of Kidney Disease in Joubert Syndrome. ⁶² ⁵	Fleming LR...Gunay-Aygun M	29146704	2017
42	[Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis]. ⁶² ⁵	Sun LZ...Chen HM	27806791	2016
43	Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. ⁶² ⁵	Kang HG...Cheong HI	27491411	2016
44	Development of end-stage renal disease at a young age in two cases with Joubert syndrome. ⁶² ⁵	Sonmez F...Uyanik G	25818971	2014
45	High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. ⁶² ⁵	Halbritter J...Otto EA	23188109	2012
46	IQCB1 mutations in patients with leber congenital amaurosis. ⁶² ⁵	Estrada-Cuzcano A...den Hollander AI	20881296	2011
47	Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. ⁶² ⁵	Fiskerstrand T...Knappskog PM	20007846	2010
48	Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. ⁶² ⁵	Hoefele J...Hildebrandt F	15776426	2005
49	Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. ⁶² ⁵	Hildebrandt F...Arbeitsgemeinschaft fur Paediatrische Nephrologie (APN) Study Group	11168925	2001
50	Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening. ⁶² ⁵	Caridi G...Ghiggeri GM	10620543	2000

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Genes for Nephronophthisis

Genes related to Nephronophthisis (17 elite genes):

(show top 50) (show all 147)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NPHP1	Nephrocystin 1	Protein Coding	481.67	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins (show sections)	8852662 9326933 9536098 (more) 10620543 10839884 11168925 15138899 16199547 16762963 17576681 17855640 18076122 19118152 23559409 24154662 24746959 26673778 27806791
2	NPHP4	Nephrocystin 4	Protein Coding	470.21	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	12205563 12244321 18076122 (more) 23559409 15776426 16199547 16339905 17558407 27491411
3	INVS	Inversin	Protein Coding	469.49	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	12872123 16522655 21866095 (more) 26862157 16199547 19177160
4	NPHP3	Nephrocystin 3	Protein Coding	469.46	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	10631142 12872122 18076122 (more) 18371931 20007846 21866095 23188109 23559409 26673778 16199547
5	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	466.72	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	16199547 18327258 21068128 (more) 21258341 23559409 24876116 25492405 27491411 29068549 25640679 30655312
6	CEP290	Centrosomal Protein 290	Protein Coding	458.68	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	9536098 16199547 16682970 (more) 16682973 16909394 17345604 17409309 17564967 17564974 17576681 17617513 17705300 17964524 19466712 19763152 19764032 19959640 20130272 20307669 20683928 20690115 21068128 21153841 21245082 21602930 21866095 22334370 22355252 22406018 22693042 23188109 23344081 23351400 23591405 23847139 23954617 24265693 24474277 25097241 25356976 25377065 25445212 25640679 25818971 25920555 26047050 26092869 26529047 26667666 26673778 27032803 27208204 27353947 27422788 27491411 27821535 28157192 28181551 28497568 28510626 28559085 28660274 28829391 28844315 29053603 29146704 29178642 29186038 29398085 29588463 29970488 30718709 31630094 32581362 32865313 33576794
7	IQCB1	IQ Motif Containing B1	Protein Coding	449.18	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	15723066 18076122 20881296 (more) 21220633 21245082 21866095 21901789 23188109 23446637 23559409 23661368 23847139 24066033 24625443 26673778 27624628 28041643 28559085 28832562 29053603 29068479 25640679
8	NPHP3-ACAD11	NPHP3-ACAD11 Readthrough (NMD Candidate)	RNA Gene	440.37	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications Summaries (show sections)	10631142 12872122 18076122 (more) 18371931 20007846 21866095 23188109 23559409 26673778 16199547
9	NPHP3-AS1	NPHP3 Antisense RNA 1	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	18371931 23559409 16199547
10	TTC21B-AS1	TTC21B Antisense RNA 1	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	21258341 24876116 16199547 (more) 18327258 21068128 23559409 25492405 27491411 29068549
11	AHI1	Abelson Helper Integration Site 1	Protein Coding	415.6	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	IFT140	Intraflagellar Transport 140	Protein Coding	407.51	Pathogenic ⁵ DISEASES inferred ¹⁴
13	MKKS	MKKS Centrosomal Shuttling Protein	Protein Coding	406	Pathogenic ⁵ DISEASES inferred ¹⁴
14	C12orf29	Chromosome 12 Open Reading Frame 29	Protein Coding	404.55	Pathogenic ⁵ DISEASES inferred ¹⁴	16682973 16909394 20683928 (more) 29588463
15	RMND1	Required For Meiotic Nuclear Division 1 Homolog	Protein Coding	403.59	Pathogenic ⁵ DISEASES inferred ¹⁴
16	LOC105371046	Uncharacterized LOC105371046	RNA Gene	400	Pathogenic ⁵
17	IFT172	Intraflagellar Transport 172	Protein Coding	106.99	Genetic Tests ²⁸ DISEASES inferred ¹⁴
18	ADAMTS9	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9	Protein Coding	35.4	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	30609407
19	ANKS6	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6	Protein Coding	33.01	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
20	CEP164	Centrosomal Protein 164	Protein Coding	32.92	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
21	WDR19	WD Repeat Domain 19	Protein Coding	32.69	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
22	GLIS2	GLIS Family Zinc Finger 2	Protein Coding	32.63	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
23	XPNPEP3	X-Prolyl Aminopeptidase 3	Protein Coding	32.24	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
24	CEP83	Centrosomal Protein 83	Protein Coding	32.11	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
25	MAPKBP1	Mitogen-Activated Protein Kinase Binding Protein 1	Protein Coding	31.24	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
26	CPLANE1	Ciliogenesis And Planar Polarity Effector Complex Subunit 1	Protein Coding	31.16	Likely pathogenic ⁵ DISEASES inferred ¹⁴
27	ZNF423	Zinc Finger Protein 423	Protein Coding	30.86	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
28	DCDC2	Doublecortin Domain Containing 2	Protein Coding	30.71	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name (show sections)
29	FAM186B	Family With Sequence Similarity 186 Member B	Protein Coding	30.45	Likely pathogenic ⁵ DISEASES inferred ¹⁴	26489029
30	INTU	Inturned Planar Cell Polarity Protein	Protein Coding	29.91	Likely pathogenic ⁵ DISEASES inferred ¹⁴	27158779
31	RBM48	RNA Binding Motif Protein 48	Protein Coding	29.31	Likely pathogenic ⁵ DISEASES inferred ¹⁴	26489029
32	INCENP	Inner Centromere Protein	Protein Coding	28.08	Likely pathogenic ⁵ DISEASES inferred ¹⁴	26489029
33	ADAMTS9-AS1	ADAMTS9 Antisense RNA 1	RNA Gene	25	Likely pathogenic ⁵	30609407
34	ADAMTS9-AS2	ADAMTS9 Antisense RNA 2	RNA Gene	25	Likely pathogenic ⁵	30609407
35	PIAS1	Protein Inhibitor Of Activated STAT 1	Protein Coding	25	Likely pathogenic ⁵	26489029
36	TMEM67	Transmembrane Protein 67	Protein Coding	24.71	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
37	NEK8	NIMA Related Kinase 8	Protein Coding	24.19	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
38	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	22.45	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
39	SLC41A1	Solute Carrier Family 41 Member 1	Protein Coding	22.29	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
40	INPP5E	Inositol Polyphosphate-5-Phosphatase E	Protein Coding	21.36	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
41	UMOD	Uromodulin	Protein Coding	18.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15983957 11730273 12900848 (more) 12839032 20497759 20172860 14520616 18846391 15086896 18651238 16582687 15989109 18950917
42	PKD2	Polycystin 2, Transient Receptor Potential Cation Channel	Protein Coding	17.32	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16207829
43	PKD1	Polycystin 1, Transient Receptor Potential Channel Interacting	Protein Coding	16.47	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16207829
44	RPGRIP1L	RPGRIP1 Like	Protein Coding	15.6	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
45	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	14.47	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
46	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	14.34	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
47	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	14.26	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
48	TMEM216	Transmembrane Protein 216	Protein Coding	14.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
49	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	14.15	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
50	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	14.01	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)

Sources

Variations for Nephronophthisis

ClinVar genetic disease variations for Nephronophthisis:

⁵ (show top 50) (show all 5082)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NPHP1	2q13 deletion (290 kb)	DEL	Pathogenic	242361		GRCh37: GRCh38:
2	NPHP3-ACAD11, NPHP3	NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs)	DUP	Pathogenic	411105	rs771215577	GRCh37: 3:132406039-132406040 GRCh38: 3:132687195-132687196
3	INVS	NC_000009.12:g.(?_100104498)_(100104627_?)del	DEL	Pathogenic	417554		GRCh37: 9:102866780-102866909 GRCh38: 9:100104498-100104627
4	NPHP1	NC_000002.12:g.(?_110123771)_(110204988_?)del	DEL	Pathogenic	462702		GRCh37: 2:110881348-110962565 GRCh38: 2:110123771-110204988
5	INVS	NM_014425.5(INVS):c.2056A>T (p.Arg686Ter)	SNV	Pathogenic	531629	rs150001738	GRCh37: 9:103046873-103046873 GRCh38: 9:100284591-100284591
6	NPHP1	NC_000002.12:g.(?_110163048)_(110204968_?)del	DEL	Pathogenic	583618		GRCh37: 2:110920625-110962545 GRCh38: 2:110163048-110204968
7	NPHP1	NC_000002.12:g.(?_110123791)_(110204968_?)del	DEL	Pathogenic	583935		GRCh37: 2:110881368-110962545 GRCh38: 2:110123791-110204968
8	NPHP4	NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)	SNV	Pathogenic	639470	rs758275952	GRCh37: 1:5927947-5927947 GRCh38: 1:5867887-5867887
9	NPHP1	NC_000002.12:g.(?_110144493)_(110150256_?)del	DEL	Pathogenic	833115		GRCh37: 2:110902070-110907833 GRCh38:
10	NPHP1	NC_000002.12:g.(?_110123791)_(110201494_?)del	DEL	Pathogenic	833368		GRCh37: 2:110881368-110959071 GRCh38:
11	overlap with 2 genes	NC_000002.12:g.(?_110091603)_(110204968_?)del	DEL	Pathogenic	830720		GRCh37: 2:110849180-110962545 GRCh38:
12	NPHP4	NM_015102.5(NPHP4):c.3010dup (p.Thr1004fs)	DUP	Pathogenic	988263	rs748950922	GRCh37: 1:5934967-5934968 GRCh38: 1:5874907-5874908
13	NPHP4	NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)	SNV	Pathogenic	988264	rs1430741326	GRCh37: 1:6007208-6007208 GRCh38: 1:5947148-5947148
14	NPHP1	NC_000002.11:g.(?_110879913)_(110963639_?)del	DEL	Pathogenic	1072531		GRCh37: 2:110879913-110963639 GRCh38:
15	TTC21B	NM_024753.5(TTC21B):c.1320del (p.Phe440fs)	DEL	Pathogenic	446650	rs775836730	GRCh37: 2:166785711-166785711 GRCh38: 2:165929201-165929201
16	NPHP4	NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)	SNV	Pathogenic	3401	rs137852920	GRCh37: 1:5964776-5964776 GRCh38: 1:5904716-5904716
17	INVS	NM_014425.5(INVS):c.2719C>T (p.Arg907Ter)	SNV	Pathogenic	11961	rs267607185	GRCh37: 9:103055258-103055258 GRCh38: 9:100292976-100292976
18	TTC21B	NM_024753.5(TTC21B):c.2758-2A>G	SNV	Pathogenic	30937	rs766132877	GRCh37: 2:166756392-166756392 GRCh38: 2:165899882-165899882
19	INVS	NM_014425.5(INVS):c.2509C>T (p.Gln837Ter)	SNV	Pathogenic	194404	rs755549444	GRCh37: 9:103055048-103055048 GRCh38: 9:100292766-100292766
20	NPHP3-ACAD11, NPHP3	NM_153240.5(NPHP3):c.634dup (p.Glu212fs)	DUP	Pathogenic	500889	rs747052534	GRCh37: 3:132437873-132437874 GRCh38: 3:132719029-132719030
21	RMND1	NM_017909.4(RMND1):c.829_830+2del	DEL	Pathogenic	988229	rs1780336606	GRCh37: 6:151748615-151748618 GRCh38: 6:151427480-151427483
22	MKKS	NM_170784.3(MKKS):c.592_593del (p.Lys198fs)	DEL	Pathogenic	988194	rs2064903228	GRCh37: 20:10393570-10393571 GRCh38: 20:10412922-10412923
23	AHI1	NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter)	SNV	Pathogenic	988139	rs766069291	GRCh37: 6:135754185-135754185 GRCh38: 6:135433047-135433047
24	TTC21B	NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter)	SNV	Pathogenic	546034	rs369159801	GRCh37: 2:166773951-166773951 GRCh38: 2:165917441-165917441
25	TTC21B	NM_024753.5(TTC21B):c.3144del (p.Ala1049fs)	DEL	Pathogenic	1372589		GRCh37: 2:166747108-166747108 GRCh38: 2:165890598-165890598
26	INVS	NM_014425.5(INVS):c.1186C>T (p.Arg396Ter)	SNV	Pathogenic	1355469		GRCh37: 9:103014672-103014672 GRCh38: 9:100252390-100252390
27	NPHP4	NM_015102.5(NPHP4):c.3282G>A (p.Trp1094Ter)	SNV	Pathogenic	1376931		GRCh37: 1:5933345-5933345 GRCh38: 1:5873285-5873285
28	TTC21B	NM_024753.5(TTC21B):c.1263_1266dup (p.Leu423fs)	DUP	Pathogenic	1379421		GRCh37: 2:166785764-166785765 GRCh38: 2:165929254-165929255
29	NPHP3-ACAD11, NPHP3	NM_153240.5(NPHP3):c.3439G>T (p.Glu1147Ter)	SNV	Pathogenic	1376656		GRCh37: 3:132403529-132403529 GRCh38: 3:132684685-132684685
30	TTC21B	NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter)	SNV	Pathogenic	1392901		GRCh37: 2:166786207-166786207 GRCh38: 2:165929697-165929697
31	NPHP4	NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter)	SNV	Pathogenic	1382268		GRCh37: 1:5927814-5927814 GRCh38: 1:5867754-5867754
32	NPHP3-ACAD11, NPHP3	NM_153240.5(NPHP3):c.1164del (p.Gly389fs)	DEL	Pathogenic	1391319		GRCh37: 3:132427056-132427056 GRCh38: 3:132708212-132708212
33	NPHP4	NM_015102.5(NPHP4):c.3368_3369del (p.Val1123fs)	MICROSAT	Pathogenic	1388969		GRCh37: 1:5927903-5927904 GRCh38: 1:5867843-5867844
34	TTC21B	NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter)	SNV	Pathogenic	1361272		GRCh37: 2:166767961-166767961 GRCh38: 2:165911451-165911451
35	NPHP1	NM_001128178.3(NPHP1):c.1493_1494del (p.Leu498fs)	DEL	Pathogenic	1402007		GRCh37: 2:110901154-110901155 GRCh38: 2:110143577-110143578
36	INVS	NM_014425.5(INVS):c.2801del (p.Lys934fs)	DEL	Pathogenic	1399574		GRCh37: 9:103059212-103059212 GRCh38: 9:100296930-100296930
37	TTC21B	NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter)	SNV	Pathogenic	1399888		GRCh37: 2:166758417-166758417 GRCh38: 2:165901907-165901907
38	NPHP4	NM_015102.5(NPHP4):c.1936C>T (p.Gln646Ter)	SNV	Pathogenic	1411648		GRCh37: 1:5965371-5965371 GRCh38: 1:5905311-5905311
39	INVS	NC_000009.11:g.(?_103027084)_(103035378_?)del	DEL	Pathogenic	1421657		GRCh37: 9:103027084-103035378 GRCh38:
40	NPHP4	NM_015102.5(NPHP4):c.3798_3799del (p.His1267fs)	MICROSAT	Pathogenic	1394852		GRCh37: 1:5925179-5925180 GRCh38: 1:5865119-5865120
41	NPHP1	NM_001128178.3(NPHP1):c.812_813insA (p.Pro272fs)	INSERT	Pathogenic	1415124		GRCh37: 2:110920671-110920672 GRCh38: 2:110163094-110163095
42	IQCB1	NM_001023570.4(IQCB1):c.601A>T (p.Arg201Ter)	SNV	Pathogenic	1430806		GRCh37: 3:121518208-121518208 GRCh38: 3:121799361-121799361
43	TTC21B	NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter)	SNV	Pathogenic	1436713		GRCh37: 2:166775885-166775885 GRCh38: 2:165919375-165919375
44	TTC21B	NM_024753.5(TTC21B):c.3044del (p.Arg1015fs)	DEL	Pathogenic	1363403		GRCh37: 2:166747405-166747405 GRCh38: 2:165890895-165890895
45	TTC21B	NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)	SNV	Pathogenic	1363746		GRCh37: 2:166785654-166785654 GRCh38: 2:165929144-165929144
46	INVS	NC_000009.11:g.(?_103014545)_(103015438_?)del	DEL	Pathogenic	1453877		GRCh37: 9:103014545-103015438 GRCh38:
47	NPHP3-ACAD11, NPHP3	NM_153240.5(NPHP3):c.469del (p.Arg157fs)	DEL	Pathogenic	1454636		GRCh37: 3:132438599-132438599 GRCh38: 3:132719755-132719755
48	NPHP3-ACAD11, NPHP3	NM_153240.5(NPHP3):c.2985C>G (p.Tyr995Ter)	SNV	Pathogenic	1410318		GRCh37: 3:132407634-132407634 GRCh38: 3:132688790-132688790
49	NPHP4	NM_015102.5(NPHP4):c.685C>T (p.Arg229Ter)	SNV	Pathogenic	1431545		GRCh37: 1:6012885-6012885 GRCh38: 1:5952825-5952825
50	TTC21B	NM_024753.5(TTC21B):c.2482dup (p.Met828fs)	DUP	Pathogenic	1453748		GRCh37: 2:166764273-166764274 GRCh38: 2:165907763-165907764

Copy number variations for Nephronophthisis from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	134883	2	108600000	113800000	Microdeletion		Nephronophthisis
2	135008	2	110200000	114400000	Deletion	NPHP1	Nephronophthisis

Sources

Expression for Nephronophthisis

Search GEO for disease gene expression data for Nephronophthisis.

Sources

Pathways for Nephronophthisis

Pathways related to Nephronophthisis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Loss of Nlp from mitotic centrosomes ⁶⁶ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁶ AURKA Activation by TPX2 ⁶⁶ Centrosome maturation ⁶⁶ G2/M Transition ⁶⁶ Interaction between PHLDA1 and AURKA ⁶⁶ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁶ Mitotic G2-G2/M phases ⁶⁶ Polo-like kinase mediated events ⁶⁶ Recruitment of mitotic centrosome proteins and complexes ⁶⁶ Recruitment of NuMA to mitotic centrosomes ⁶⁶ Regulation of PLK1 Activity at G2/M Transition ⁶⁶	12.91	NPHP4 NPHP1 IQCB1 CEP290 CEP164 AHI1
2	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.69	TTC21B NPHP4 NPHP3 NPHP1 MKKS IQCB1
3	Ciliary landscape ⁷⁴	12.05	IQCB1 IFT172 IFT140 CEP290 ANKS6
4	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.95	CEP164 CEP290 IFT140 IFT172 INVS IQCB1
5	Joubert syndrome ⁷⁴	11.43	AHI1 ANKS6 CEP164 CEP290 INVS NPHP1
6	Ciliopathies ⁷⁴	11.33	NPHP4 NPHP3 NPHP1 IQCB1 INVS CEP290
7	Intraflagellar transport ⁶⁶	11.28	TTC21B IFT172 IFT140

Sources

GO Terms for Nephronophthisis

Cellular components related to Nephronophthisis according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	centrosome	GO:0005813	10.28	AHI1 CEP164 CEP290 IFT140 IQCB1 MKKS
2	centriole	GO:0005814	10.15	AHI1 CEP164 CEP290 IFT140 IQCB1 NPHP4
3	ciliary basal body	GO:0036064	10.14	NPHP4 MKKS IFT172 IFT140 CEP290 AHI1
4	cytoskeleton	GO:0005856	10.13	TTC21B NPHP4 NPHP3-ACAD11 NPHP1 MKKS IQCB1
5	ciliary tip	GO:0097542	9.99	TTC21B IFT172 IFT140
6	cell projection	GO:0042995	9.96	TTC21B NPHP4 NPHP3 NPHP1 INVS IFT172
7	ciliary base	GO:0097546	9.89	NPHP4 NPHP3-ACAD11 NPHP3
8	microtubule organizing center	GO:0005815	9.88	NPHP4 MKKS IQCB1 IFT140 CEP290
9	non-motile cilium	GO:0097730	9.85	NPHP4 IFT140 AHI1
10	MKS complex	GO:0036038	9.84	CEP290 AHI1
11	intraciliary transport particle A	GO:0030991	9.83	TTC21B IFT140
12	photoreceptor connecting cilium	GO:0032391	9.81	CEP290 IFT140 IQCB1 NPHP1 NPHP4
13	cilium	GO:0005929	9.6	TTC21B NPHP4 NPHP3 NPHP1 IQCB1 INVS
14	ciliary inversin compartment	GO:0097543	9.43	NPHP3-ACAD11 NPHP3 INVS ANKS6

Biological processes related to Nephronophthisis according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	kidney development	GO:0001822	10.07	NPHP3-ACAD11 NPHP3 CEP290 ANKS6
2	heart looping	GO:0001947	10.01	NPHP3 MKKS IFT172 AHI1
3	non-motile cilium assembly	GO:1905515	9.96	NPHP3 MKKS IFT172 IFT140 CEP290
4	photoreceptor cell maintenance	GO:0045494	9.92	IQCB1 MKKS NPHP3 NPHP4
5	left/right axis specification	GO:0070986	9.86	IFT172 AHI1
6	intraciliary retrograde transport	GO:0035721	9.85	TTC21B IFT140
7	regulation of smoothened signaling pathway	GO:0008589	9.85	TTC21B IFT172 IFT140
8	photoreceptor cell outer segment organization	GO:0035845	9.85	NPHP4 IFT140 AHI1
9	positive regulation of bicellular tight junction assembly	GO:1903348	9.84	NPHP4 NPHP1
10	maintenance of animal organ identity	GO:0048496	9.81	NPHP3 IQCB1
11	visual behavior	GO:0007632	9.8	NPHP4 NPHP1
12	convergent extension involved in gastrulation	GO:0060027	9.73	NPHP3 MKKS
13	cell projection organization	GO:0030030	9.7	NPHP1 IQCB1 IFT140 CEP290 CEP164 AHI1
14	convergent extension	GO:0060026	9.65	NPHP3 NPHP3-ACAD11
15	determination of left/right symmetry	GO:0007368	9.65	ANKS6 IFT140 IFT172 MKKS NPHP3 NPHP3-ACAD11
16	cilium assembly	GO:0060271	9.6	TTC21B NPHP3-ACAD11 NPHP3 MKKS IQCB1 IFT172

Sources

Sources for Nephronophthisis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

NPH MCID: NPH005 MIFTS: 62	Nephronophthisis (NPH) Categories: Eye diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Nephronophthisis (NPH)

Aliases & Classifications for Nephronophthisis

MalaCards integrated aliases for Nephronophthisis:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Nephronophthisis

Related Diseases for Nephronophthisis

Diseases in the Nephronophthisis family:

Diseases related to Nephronophthisis via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Nephronophthisis:

Symptoms & Phenotypes for Nephronophthisis

Human phenotypes related to Nephronophthisis:

MGI Mouse Phenotypes related to Nephronophthisis:

Drugs & Therapeutics for Nephronophthisis

Drugs for Nephronophthisis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Nephronophthisis

Genetic tests related to Nephronophthisis:

Anatomical Context for Nephronophthisis

Organs/tissues related to Nephronophthisis:

Publications for Nephronophthisis

Articles related to Nephronophthisis:

Genes for Nephronophthisis

Genes related to Nephronophthisis (17 elite genes):

Variations for Nephronophthisis

ClinVar genetic disease variations for Nephronophthisis:

Copy number variations for Nephronophthisis from CNVD:

Expression for Nephronophthisis

Pathways for Nephronophthisis

Pathways related to Nephronophthisis according to GeneCards Suite gene sharing:

GO Terms for Nephronophthisis

Cellular components related to Nephronophthisis according to GeneCards Suite gene sharing:

Biological processes related to Nephronophthisis according to GeneCards Suite gene sharing:

Sources for Nephronophthisis