NPHP1
MCID: NPH019
MIFTS: 50

Nephronophthisis 1 (NPHP1)

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 1

MalaCards integrated aliases for Nephronophthisis 1:

Name: Nephronophthisis 1 56 12 73 29 6 15
Nphp1 56 12 73 54
Nephronophthisis, Familial Juvenile 56 71
Nephronophthisis 1, Juvenile 56 13
Nph1 56 12
Familial Juvenile Nephronophthisis 1 73
Juvenile Nephronophthisis 1 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
medial onset of end stage renal disease 13 years
allelic to senior-loken syndrome 1 and joubert syndrome 4


HPO:

31
nephronophthisis 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111112
OMIM 56 256100
OMIM Phenotypic Series 56 PS256100
MeSH 43 D052177
UMLS 71 C1855681

Summaries for Nephronophthisis 1

OMIM : 56 Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (SLSN1; 266900); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome (JBTS1; 213300); and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome (MKS1; 249000). Because most NPHP gene products localize to the cilium or its associated structures, nephronophthisis and the related syndromes have been termed 'ciliopathies' (summary by Hoff et al., 2013). Clinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. Simms et al. (2009) provided a detailed review of nephronophthisis, including a discussion of clinical features and molecular genetics. (256100)

MalaCards based summary : Nephronophthisis 1, also known as nphp1, is related to juvenile nephronophthisis and nephronophthisis 18, and has symptoms including polydipsia and polyuria. An important gene associated with Nephronophthisis 1 is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Metabolic States and Circadian Oscillators. Affiliated tissues include kidney, liver and testes, and related phenotypes are polydipsia and anemia

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.

UniProtKB/Swiss-Prot : 73 Nephronophthisis 1: An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years.

Related Diseases for Nephronophthisis 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 juvenile nephronophthisis 32.8 NPHP4 NPHP3 NPHP1 INVS
2 nephronophthisis 18 32.8 NPHP4 NPHP3 NPHP1 INVS
3 joubert syndrome 4 32.7 NPHP4 NPHP1 B9D2 APPL1 AHI1
4 oculomotor apraxia 32.1 NPHP1 AHI1
5 retinal aplasia 32.0 NPHP4 NPHP1
6 joubert syndrome 15 32.0 NPHP4 NPHP1
7 nephronophthisis 4 32.0 NPHP4 NPHP1
8 joubert syndrome 6 32.0 NPHP1 AHI1
9 nephronophthisis 9 32.0 NPHP4 NPHP3 NPHP1 INVS B9D2 AHI1
10 joubert syndrome 10 31.9 NPHP1 AHI1
11 joubert syndrome 9 31.9 NPHP1 AHI1
12 joubert syndrome 8 31.8 NPHP3 NPHP1 AHI1
13 joubert syndrome 13 31.8 NPHP1 AHI1
14 polycystic liver disease 1 with or without kidney cysts 31.8 PKD1 NPHP4 NPHP1
15 nephronophthisis 13 31.7 NPHP4 NPHP3 NPHP1 INVS
16 nephronophthisis 11 31.7 NPHP4 NPHP3 NPHP1 INVS
17 nephronophthisis 15 31.7 NPHP4 NPHP3 NPHP1 INVS
18 nephronophthisis 12 31.7 NPHP4 NPHP3 NPHP1 INVS
19 nephronophthisis 7 31.7 NPHP4 NPHP3 NPHP1 INVS
20 nephronophthisis 16 31.7 NPHP4 NPHP3 NPHP1 INVS
21 renal-hepatic-pancreatic dysplasia 31.6 NPHP4 NPHP3 NPHP1 INVS
22 cranioectodermal dysplasia 1 31.6 NPHP4 NPHP1 INVS AHI1
23 hyperuricemic nephropathy, familial juvenile, 1 31.6 NPHP4 NPHP1
24 cogan syndrome 31.6 NPHP4 NPHP1 APPL1 AHI1
25 joubert syndrome 7 31.5 NPHP1 B9D2 AHI1
26 joubert syndrome 2 31.5 NPHP1 B9D2 AHI1
27 nephronophthisis 19 31.4 NPHP4 NPHP3 NPHP1 INVS AHI1
28 joubert syndrome 24 31.4 NPHP1 B9D1 AHI1
29 orofaciodigital syndrome vi 31.3 NPHP1 B9D1 AHI1
30 senior-loken syndrome 1 31.3 NPHP4 NPHP3 NPHP1 INVS B9D2 B9D1
31 cystic kidney disease 31.0 PKD1 NPHP4 NPHP3 NPHP1 INVS BCAR1
32 nephronophthisis 14 30.9 NPHP4 NPHP1 INVS CC2D2B B9D1
33 meckel syndrome, type 4 30.9 NPHP3 NPHP1 B9D2 B9D1
34 meckel syndrome, type 2 30.9 NPHP4 NPHP1 B9D2 B9D1
35 joubert syndrome 5 30.9 NPHP1 B9D2 B9D1 AHI1
36 end stage renal disease 30.8 PKD1 NPHP4 NPHP3 INVS
37 short-rib thoracic dysplasia 1 with or without polydactyly 30.8 NPHP1 B9D2 B9D1 AHI1
38 meckel syndrome, type 3 30.7 NPHP4 NPHP3 NPHP1 INVS B9D2 B9D1
39 leber plus disease 30.6 NPHP4 NPHP3 NPHP1 INVS B9D2 B9D1
40 meckel syndrome, type 5 30.6 NPHP4 NPHP1 CC2D2B B9D2 B9D1
41 bardet-biedl syndrome 30.5 PKD1 NPHP4 NPHP3 NPHP1 INVS CC2D2B
42 polycystic kidney disease 4 with or without polycystic liver disease 30.4 PKD1 NPHP4 NPHP3 NPHP1 INVS B9D1
43 kartagener syndrome 30.4 PKD1 NPHP4 NPHP3 NPHP1 INVS B9D1
44 coach syndrome 30.4 NPHP4 NPHP3 NPHP1 B9D2 B9D1 AHI1
45 meckel syndrome, type 6 30.4 NPHP4 NPHP3 NPHP1 CC2D2B B9D2 B9D1
46 fundus dystrophy 30.3 NPHP4 NPHP3 NPHP1 INVS B9D2 B9D1
47 retinitis pigmentosa 30.2 PKD1 NPHP4 NPHP3 NPHP1 INVS B9D2
48 visceral heterotaxy 29.9 PKD1 NPHP4 NPHP3 NPHP1 INVS B9D2
49 primary ciliary dyskinesia 29.8 PKD1 NPHP4 NPHP3 NPHP1 INVS B9D2
50 joubert syndrome 3 29.8 NPHP4 NPHP3 NPHP1 INVS B9D2 B9D1

Graphical network of the top 20 diseases related to Nephronophthisis 1:



Diseases related to Nephronophthisis 1

Symptoms & Phenotypes for Nephronophthisis 1

Human phenotypes related to Nephronophthisis 1:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 polydipsia 31 HP:0001959
2 anemia 31 HP:0001903
3 growth delay 31 HP:0001510
4 hypertension 31 HP:0000822
5 nephronophthisis 31 HP:0000090
6 stage 5 chronic kidney disease 31 HP:0003774
7 renal tubular atrophy 31 HP:0000092
8 tubulointerstitial fibrosis 31 HP:0005576
9 hyposthenuria 31 HP:0003158
10 polyuria 31 HP:0000103
11 renal corticomedullary cysts 31 HP:0000108
12 tubular basement membrane disintegration 31 HP:0005583

Symptoms via clinical synopsis from OMIM:

56
Metabolic Features:
polydipsia
polyuria
absence of hypertension

Genitourinary Kidneys:
nephronophthisis
tubular basement membrane disintegration
interstitial fibrosis
tubular atrophy
end stage renal disease
more
Laboratory Abnormalities:
hyposthenuria (inability to concentrate urine normally)

Hematology:
anemia

Growth Other:
growth retardation

Clinical features from OMIM:

256100

UMLS symptoms related to Nephronophthisis 1:


polydipsia, polyuria

MGI Mouse Phenotypes related to Nephronophthisis 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 APPL1 B9D1 B9D2 BCAR1 CRY1 CRY2
2 cellular MP:0005384 9.85 AHI1 APPL1 B9D1 B9D2 BCAR1 INVS
3 renal/urinary system MP:0005367 9.61 AHI1 B9D1 B9D2 INVS NPHP1 NPHP3
4 vision/eye MP:0005391 9.23 AHI1 B9D1 B9D2 CRY1 CRY2 NPHP1

Drugs & Therapeutics for Nephronophthisis 1

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 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
3 Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases Completed NCT01312727

Search NIH Clinical Center for Nephronophthisis 1

Genetic Tests for Nephronophthisis 1

Genetic tests related to Nephronophthisis 1:

# Genetic test Affiliating Genes
1 Nephronophthisis 1 29 NPHP1

Anatomical Context for Nephronophthisis 1

MalaCards organs/tissues related to Nephronophthisis 1:

40
Kidney, Liver, Testes, Bone, Brain, Retina, Heart

Publications for Nephronophthisis 1

Articles related to Nephronophthisis 1:

(show top 50) (show all 205)
# Title Authors PMID Year
1
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. 56 6 54 61
9326933 1997
2
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 6 61 54
16155189 2006
3
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 61 54 6
15138899 2004
4
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. 54 6 61
10839884 2000
5
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. 61 54 6
10712196 2000
6
Nephronophthisis 61 6
27336129 2016
7
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 61 56
23559409 2013
8
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 56 61
20081859 2010
9
Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse. 56 61
19208653 2009
10
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity. 54 56
7806215 1994
11
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 56
23793029 2013
12
Nephronophthisis. 56
19066617 2009
13
Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups. 56
10196704 1999
14
Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. 6
9856524 1998
15
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. 56
9361039 1997
16
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. 6
8852662 1996
17
Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. APN Study Group. 56
7789968 1995
18
The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2. 56
8088836 1994
19
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. 56
7981755 1993
20
Familial medullary sponge kidney in association with congenital absence of teeth (anodontia). 56
3352850 1988
21
Nephronophthisis. A primary tubular basement membrane defect. 56
3534448 1986
22
The nephronophthisis complex. A clinicopathologic study in children. 56
7072145 1982
23
Nephronophthisis. 56
7369232 1980
24
Hereditary nephronophthisis with a life span of three decades. Light and electron microscopical, immunohistochemical, clinical and family studies. 56
145716 1977
25
Juvenile nephronophthisis and medullary cystic disease. 56
881899 1977
26
Congenital hepatic fibrosis and nephronophthisis. A family study. 56
4688793 1973
27
Medullary cystic disease and juvenile nephronophthisis in separate members of the same family. 56
5023476 1972
28
Nephronophthisis. Report of 8 cases from Britain. 56
5018661 1972
29
Renal lesions of familial juvenile nephronophthisis examined by microdissection. 56
5554192 1971
30
An inherited kidney disease of mice resembling human nephronophthisis. 56
5098070 1971
31
Familial uremic medullary cystic disease. 56
5422103 1970
32
Renal medullary cystic disease or familial juvenile nephronophthisis: a renal tubular disease. Biochemical findings in two siblings. 56
5416260 1970
33
Medullary cystic disease and familial juvenile nephronophthisis. 56
6046685 1967
34
Nephronophthisis and medullary cystic disease. 56
6038723 1967
35
FAMILIAL NEPHROPATHY WITH RETINITIS PIGMENTOSA; A NEW OCULORENAL SYNDROME IN ADULTS. 56
14314238 1965
36
FAMILIAL JUVENILE NEPHRONOPHTHISIS. AN UNRECOGNIZED RENAL DISEASE IN THE UNITED STATES. 56
14211100 1964
37
Familial juvenile nephronophthisis. 56
13979760 1962
38
Juvenile nephronophthisis. Part 1. A genetically determined nephropathy with hypotonic polyuria and azotaemia. 56
13804544 1960
39
Familial juvenile nephronophthisis. 56
13570969 1958
40
[Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney)]. 56
14823504 1951
41
Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain. 61 54
20434703 2010
42
Nephronophthisis. 54 61
18607645 2009
43
Joubert syndrome: insights into brain development, cilium biology, and complex disease. 54 61
19778711 2009
44
Nephronophthisis: disease mechanisms of a ciliopathy. 54 61
19118152 2009
45
Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry. 61 54
19000067 2008
46
A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. 61 54
18687878 2008
47
Nephronophthisis-like nephritis associated with fibrous dysplasia of bone. 61 54
18512082 2008
48
Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. 54 61
18337471 2008
49
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 61 54
18076122 2008
50
The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure. 54 61
18316409 2008

Variations for Nephronophthisis 1

ClinVar genetic disease variations for Nephronophthisis 1:

6 (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP1 NM_000272.4(NPHP1):c.1520+1deldeletion Pathogenic 462705 rs747861275 2:110904329-110904329 2:110146752-110146752
2 NPHP1 NM_000272.4(NPHP1):c.1529_1530del (p.Glu510fs)deletion Pathogenic 436026 rs1553484094 2:110902137-110902138 2:110144560-110144561
3 NPHP1 deletion Pathogenic 453297 2:110852960-110975102 2:110095383-110217525
4 MALL , NPHP1 GRCh37/hg19 2q13(chr2:110862477-110983703)copy number loss Pathogenic 625824 2:110862477-110983703
5 NPHP1 NM_000272.4(NPHP1):c.1884+1G>TSNV Pathogenic 3507 rs1233478832 2:110886762-110886762 2:110129185-110129185
6 NPHP1 NM_000272.4(NPHP1):c.80T>A (p.Leu27Ter)SNV Pathogenic 3509 rs121907898 2:110959061-110959061 2:110201484-110201484
7 NPHP1 NM_000272.4(NPHP1):c.1027G>A (p.Gly343Arg)SNV Pathogenic 3510 rs121907899 2:110920625-110920625 2:110163048-110163048
8 NPHP1 NPHP1, DELdeletion Pathogenic 3511
9 NPHP1 NM_000272.4(NPHP1):c.555dup (p.Pro186fs)duplication Pathogenic 283524 rs766524637 2:110926097-110926098 2:110168520-110168521
10 NPHP1 NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile)SNV Conflicting interpretations of pathogenicity 287345 rs140469160 2:110919181-110919181 2:110161604-110161604
11 NPHP1 NM_000272.4(NPHP1):c.971T>C (p.Met324Thr)SNV Conflicting interpretations of pathogenicity 288369 rs114250691 2:110920681-110920681 2:110163104-110163104
12 NPHP1 NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys)SNV Conflicting interpretations of pathogenicity 330730 rs149887461 2:110901179-110901179 2:110143602-110143602
13 NPHP1 NM_000272.4(NPHP1):c.456A>G (p.Ser152=)SNV Conflicting interpretations of pathogenicity 330738 rs143163969 2:110927449-110927449 2:110169872-110169872
14 NPHP1 NM_000272.4(NPHP1):c.969G>A (p.Thr323=)SNV Conflicting interpretations of pathogenicity 330734 rs141763330 2:110920683-110920683 2:110163106-110163106
15 NPHP1 NM_000272.3(NPHP1):c.625-3dupduplication Conflicting interpretations of pathogenicity 156395 rs200118387 2:110922740-110922740 2:110165157-110165158
16 NPHP1 NM_000272.4(NPHP1):c.232T>C (p.Tyr78His)SNV Conflicting interpretations of pathogenicity 167377 rs140446520 2:110936097-110936097 2:110178520-110178520
17 NPHP1 NM_000272.4(NPHP1):c.1035A>G (p.Gln345=)SNV Conflicting interpretations of pathogenicity 193569 rs371112962 2:110919267-110919267 2:110161690-110161690
18 NPHP1 NM_000272.4(NPHP1):c.1438-4C>TSNV Conflicting interpretations of pathogenicity 194327 rs151204566 2:110904416-110904416 2:110146839-110146839
19 NPHP1 NM_001128178.3(NPHP1):c.*194T>CSNV Conflicting interpretations of pathogenicity 894599 2:110881174-110881174 2:110123597-110123597
20 NPHP1 NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)SNV Uncertain significance 892573 2:110881598-110881598 2:110124021-110124021
21 NPHP1 NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)SNV Uncertain significance 894221 2:110886786-110886786 2:110129209-110129209
22 NPHP1 NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)SNV Uncertain significance 894222 2:110889364-110889364 2:110131787-110131787
23 NPHP1 NM_001128178.3(NPHP1):c.771+148G>TSNV Uncertain significance 894647 2:110922117-110922117 2:110164540-110164540
24 NPHP1 NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)SNV Uncertain significance 894667 2:110927553-110927553 2:110169976-110169976
25 NPHP1 NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)SNV Uncertain significance 894668 2:110936089-110936089 2:110178512-110178512
26 NPHP1 NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)SNV Uncertain significance 892675 2:110959004-110959004 2:110201427-110201427
27 NPHP1 NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)SNV Uncertain significance 893477 2:110962516-110962516 2:110204939-110204939
28 NPHP1 NM_001128178.3(NPHP1):c.*238T>CSNV Uncertain significance 894188 2:110881130-110881130 2:110123553-110123553
29 NPHP1 NM_001128178.3(NPHP1):c.*199A>GSNV Uncertain significance 894189 2:110881169-110881169 2:110123592-110123592
30 NPHP1 NM_000272.4(NPHP1):c.940-5T>CSNV Uncertain significance 498608 rs201478764 2:110920717-110920717 2:110163140-110163140
31 NPHP1 NM_000272.4(NPHP1):c.1929+5A>CSNV Uncertain significance 566103 rs201030203 2:110883209-110883209 2:110125632-110125632
32 NPHP1 NM_000272.4(NPHP1):c.460G>A (p.Gly154Ser)SNV Uncertain significance 594808 rs769509705 2:110927445-110927445 2:110169868-110169868
33 NPHP1 NM_000272.4(NPHP1):c.2029G>C (p.Glu677Gln)SNV Uncertain significance 216416 rs780427871 2:110881541-110881541 2:110123964-110123964
34 NPHP1 NC_000002.12:g.110205022G>ASNV Uncertain significance 893777 2:110962599-110962599 2:110205022-110205022
35 NPHP1 NC_000002.12:g.110123331A>TSNV Uncertain significance 893357 2:110880908-110880908
36 NPHP1 NM_001128178.3(NPHP1):c.1717-5T>GSNV Uncertain significance 893387 2:110883263-110883263 2:110125686-110125686
37 NPHP1 NM_001128178.3(NPHP1):c.1716+15T>CSNV Uncertain significance 893388 2:110886748-110886748 2:110129171-110129171
38 NPHP1 NM_001128178.3(NPHP1):c.771+178C>TSNV Uncertain significance 894253 2:110922087-110922087 2:110164510-110164510
39 NPHP1 NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser)SNV Uncertain significance 330737 rs886054756 2:110926060-110926060 2:110168483-110168483
40 NPHP1 NM_000272.4(NPHP1):c.*250C>TSNV Uncertain significance 330726 rs150558683 2:110881118-110881118 2:110123541-110123541
41 NPHP1 NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg)SNV Uncertain significance 330733 rs886054754 2:110920664-110920664 2:110163087-110163087
42 NPHP1 NM_000272.4(NPHP1):c.669C>T (p.Gly223=)SNV Uncertain significance 330736 rs886054755 2:110922688-110922688 2:110165111-110165111
43 NPHP1 NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys)SNV Uncertain significance 330732 rs375907280 2:110905597-110905597 2:110148020-110148020
44 NPHP1 NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln)SNV Uncertain significance 330731 rs886054753 2:110904403-110904403 2:110146826-110146826
45 NPHP1 NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser)SNV Uncertain significance 330735 rs139787582 2:110922176-110922176 2:110164599-110164599
46 NPHP1 NM_000272.4(NPHP1):c.*322A>GSNV Uncertain significance 330725 rs886054752 2:110881046-110881046 2:110123469-110123469
47 NPHP1 NM_000272.4(NPHP1):c.2100C>T (p.Gly700=)SNV Uncertain significance 330727 rs200631256 2:110881470-110881470 2:110123893-110123893
48 NPHP1 NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu)SNV Uncertain significance 330728 rs138181219 2:110883254-110883254 2:110125677-110125677
49 NPHP1 NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu)SNV Uncertain significance 330729 rs573192954 2:110901126-110901126 2:110143549-110143549
50 NPHP1 NM_001128178.3(NPHP1):c.-17G>ASNV Likely benign 893478 2:110962562-110962562 2:110204985-110204985

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 1:

73
# Symbol AA change Variation ID SNP ID
1 NPHP1 p.Gly342Arg VAR_012160 rs121907899

Expression for Nephronophthisis 1

Search GEO for disease gene expression data for Nephronophthisis 1.

Pathways for Nephronophthisis 1

Pathways related to Nephronophthisis 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 PKD1 NPHP4 NPHP3 NPHP1 B9D2 B9D1
2
Show member pathways
10.03 CRY2 CRY1

GO Terms for Nephronophthisis 1

Cellular components related to Nephronophthisis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 NPHP4 NPHP1 INVS B9D2 B9D1 AHI1
2 ciliary basal body GO:0036064 9.62 NPHP4 B9D2 B9D1 AHI1
3 cell projection GO:0042995 9.61 PKD1 NPHP4 NPHP3 NPHP1 INVS B9D2
4 ciliary transition zone GO:0035869 9.43 NPHP4 B9D2 B9D1
5 MKS complex GO:0036038 9.33 B9D2 B9D1 AHI1
6 cilium GO:0005929 9.17 PKD1 NPHP4 NPHP3 NPHP1 INVS B9D2

Biological processes related to Nephronophthisis 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 9.74 PKD1 NPHP4 NPHP1
2 cilium assembly GO:0060271 9.73 NPHP3 B9D2 B9D1 AHI1
3 cell projection organization GO:0030030 9.71 NPHP1 B9D2 B9D1 AHI1
4 entrainment of circadian clock by photoperiod GO:0043153 9.56 CRY2 CRY1
5 response to light stimulus GO:0009416 9.55 CRY2 CRY1
6 lipid storage GO:0019915 9.54 CRY2 CRY1
7 regulation of G1/S transition of mitotic cell cycle GO:2000045 9.52 PKD1 APPL1
8 cellular response to hepatocyte growth factor stimulus GO:0035729 9.51 BCAR1 APPL1
9 protein-chromophore linkage GO:0018298 9.49 CRY2 CRY1
10 photoreceptor cell outer segment organization GO:0035845 9.48 NPHP4 AHI1
11 negative regulation of circadian rhythm GO:0042754 9.46 CRY2 CRY1
12 negative regulation of glucocorticoid receptor signaling pathway GO:2000323 9.37 CRY2 CRY1
13 positive regulation of bicellular tight junction assembly GO:1903348 9.32 NPHP4 NPHP1
14 visual behavior GO:0007632 9.26 NPHP4 NPHP1
15 negative regulation of glucocorticoid secretion GO:2000850 9.16 CRY2 CRY1
16 ciliary basal body-plasma membrane docking GO:0097711 9.02 NPHP4 NPHP1 B9D2 B9D1 AHI1
17 blue light signaling pathway GO:0009785 8.96 CRY2 CRY1

Molecular functions related to Nephronophthisis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear hormone receptor binding GO:0035257 9.32 CRY2 CRY1
2 photoreceptor activity GO:0009881 9.26 CRY2 CRY1
3 blue light photoreceptor activity GO:0009882 9.16 CRY2 CRY1
4 DNA (6-4) photolyase activity GO:0003914 8.96 CRY2 CRY1
5 deoxyribodipyrimidine photo-lyase activity GO:0003904 8.62 CRY2 CRY1

Sources for Nephronophthisis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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