NPH
MCID: NPH005
MIFTS: 62

Nephronophthisis (NPH)

Categories: Eye diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Nephronophthisis

MalaCards integrated aliases for Nephronophthisis:

Name: Nephronophthisis 11 24 19 42 58 75 28 5 14 38 71 33
Medullary Cystic Disease 11 75 71
Medullary Cystic Kidney 11 53 31
Nph 24 42
Kidney Disease, Cystic, Medullary 38
Nphp 42

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

1-9/100000 (Finland) 58

Age Of Onset:

Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 11 DOID:12712
NCIt 49 C123200
SNOMED-CT 68 204958008
ICD10 31 Q61.5
ICD10 via Orphanet 32 Q61.5
UMLS via Orphanet 72 C0687120
Orphanet 58 ORPHA655
ICD11 33 158151813
UMLS 71 C0687120 C2939174

Summaries for Nephronophthisis

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

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:



Diseases related to Nephronophthisis

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

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 Phase Drugs
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

Genetic Tests for Nephronophthisis

Genetic tests related to Nephronophthisis:

# Genetic test Affiliating Genes
1 Nephronophthisis 28 IFT172

Anatomical Context for Nephronophthisis

Organs/tissues related to Nephronophthisis:

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

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
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
26489029 2016
3
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 62 24 5
24876116 2014
4
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. 62 24 5
24746959 2014
5
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 62 24 5
23559409 2013
6
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 62 24 5
21866095 2011
7
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 62 24 5
21258341 2011
8
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 62 24 5
21068128 2011
9
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. 62 24 5
21220633 2011
10
CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 62 24 5
20690115 2010
11
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. 62 24 5
19177160 2009
12
Nephronophthisis: disease mechanisms of a ciliopathy. 62 24 5
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
18371931 2008
14
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 62 24 5
18076122 2008
15
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. 62 24 5
17617513 2007
16
Evidence of oligogenic inheritance in nephronophthisis. 62 24 5
17855640 2007
17
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 62 24 5
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
17409309 2007
19
Retinitis pigmentosa and renal failure in a patient with mutations in INVS. 62 24 5
16522655 2006
20
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 62 24 5
16682973 2006
21
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. 62 24 5
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
15723066 2005
23
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 62 24 5
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
12872123 2003
25
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 62 24 5
12872122 2003
26
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 62 24 5
12205563 2002
27
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 62 24 5
12244321 2002
28
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. 62 24 5
10839884 2000
29
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. 62 24 5
10631142 2000
30
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. 62 24 5
9326933 1997
31
Joubert syndrome: genotyping a Northern European patient cohort. 24 5
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
25492405 2015
33
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 24 5
23954617 2013
34
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. 24 5
20130272 2010
35
Expanding CEP290 mutational spectrum in ciliopathies. 24 5
19764032 2009
36
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. 24 5
17705300 2008
37
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 24 5
17564974 2007
38
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 24 5
16909394 2006
39
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 24 5
16682970 2006
40
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. 62 5
30609407 2019
41
Prospective Evaluation of Kidney Disease in Joubert Syndrome. 62 5
29146704 2017
42
[Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis]. 62 5
27806791 2016
43
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 62 5
27491411 2016
44
Development of end-stage renal disease at a young age in two cases with Joubert syndrome. 62 5
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
23188109 2012
46
IQCB1 mutations in patients with leber congenital amaurosis. 62 5
20881296 2011
47
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 62 5
20007846 2010
48
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. 62 5
15776426 2005
49
Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. 62 5
11168925 2001
50
Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening. 62 5
10620543 2000

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

Expression for Nephronophthisis

Search GEO for disease gene expression data for Nephronophthisis.

Pathways for Nephronophthisis

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 for Nephronophthisis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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