NPHP19
MCID: NPH077
MIFTS: 37

Nephronophthisis 19 (NPHP19)

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

Aliases & Classifications for Nephronophthisis 19

MalaCards integrated aliases for Nephronophthisis 19:

Name: Nephronophthisis 19 58 12 76 30 6 15 74
Nphp19 58 12 76
Nephronophthisis, Type 19 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (last curated february 2015)
onset of liver involvement in infancy


HPO:

33
nephronophthisis 19:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 19

UniProtKB/Swiss-Prot : 76 Nephronophthisis 19: A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis.

MalaCards based summary : Nephronophthisis 19, also known as nphp19, is related to sclerosing cholangitis, neonatal and deafness, autosomal recessive 66. An important gene associated with Nephronophthisis 19 is DCDC2 (Doublecortin Domain Containing 2), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney and liver, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22.

Description from OMIM: 616217

Related Diseases for Nephronophthisis 19

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 sclerosing cholangitis, neonatal 10.3 DCDC2 KAAG1
2 deafness, autosomal recessive 66 10.2 DCDC2 KAAG1
3 senior-boichis syndrome 10.2 DCDC2 TMEM67
4 patau syndrome 10.1 OFD1 TMEM67
5 joubert syndrome 6 10.0 NPHP1 TMEM67
6 meckel syndrome, type 3 10.0 NPHP1 TMEM67
7 joubert syndrome 2 10.0 NPHP1 TMEM67
8 nephronophthisis 1 10.0 NPHP1 NPHP4
9 hydrolethalus syndrome 1 10.0 OFD1 TMEM67
10 juvenile nephronophthisis 9.9 NPHP1 NPHP4
11 retinal aplasia 9.9 NPHP1 NPHP4
12 nephronophthisis 4 9.9 NPHP1 NPHP4
13 nephronophthisis 18 9.9 NPHP1 NPHP4
14 nephronophthisis 2 9.9 NPHP1 NPHP4
15 cogan syndrome 9.9 NPHP1 NPHP4
16 nephronophthisis 9 9.9 NPHP1 NPHP4
17 polycystic kidney disease 4 with or without polycystic liver disease 9.8 OFD1 TMEM67
18 nephronophthisis 11 9.8 NPHP1 NPHP4 TMEM67
19 senior-loken syndrome 1 9.7 NPHP1 NPHP4 TMEM67
20 apraxia 9.7 NPHP1 NPHP4
21 kidney disease 9.6 NPHP1 TMEM67 UMOD
22 bardet-biedl syndrome 9.5 NPHP1 NPHP4 TMEM67
23 leber congenital amaurosis 9.5 MPP5 NPHP1 NPHP4
24 meckel syndrome, type 6 9.5 NPHP1 NPHP4 OFD1 TMEM67
25 polycystic liver disease 1 with or without kidney cysts 9.5 NPHP1 NPHP4 UMOD
26 meckel syndrome, type 1 9.5 NPHP1 NPHP4 OFD1 TMEM67
27 joubert syndrome 1 9.5 NPHP1 NPHP4 OFD1 TMEM67
28 cystic kidney disease 9.3 NPHP1 NPHP4 TMEM67 UMOD
29 nephronophthisis 9.1 DCDC2 NPHP1 NPHP4 TMEM67 UMOD

Graphical network of the top 20 diseases related to Nephronophthisis 19:



Diseases related to Nephronophthisis 19

Symptoms & Phenotypes for Nephronophthisis 19

Human phenotypes related to Nephronophthisis 19:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 hepatic fibrosis 33 HP:0001395
4 cholestasis 33 HP:0001396
5 nephronophthisis 33 HP:0000090
6 stage 5 chronic kidney disease 33 HP:0003774
7 bile duct proliferation 33 HP:0001408

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Genitourinary Kidneys:
nephronophthisis (1 of 2 patients)
increased echogenicity (1 of 2 patients)
tubular dilation (1 of 2 patients)
prominent epithelial luminal budding (1 of 2 patients)
end-stage renal disease (1 of 2 patients)

Abdomen Liver:
hepatomegaly
hepatic fibrosis
cholestasis
bile duct proliferation
destruction of bile ducts

Clinical features from OMIM:

616217

MGI Mouse Phenotypes related to Nephronophthisis 19:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.63 MPP5 NPHP1 NPHP4 OFD1 TMEM67 UMOD
2 nervous system MP:0003631 9.43 DCDC2 MPP5 NPHP1 NPHP4 OFD1 TMEM67
3 renal/urinary system MP:0005367 9.02 NPHP1 NPHP4 OFD1 TMEM67 UMOD

Drugs & Therapeutics for Nephronophthisis 19

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 19

Genetic Tests for Nephronophthisis 19

Genetic tests related to Nephronophthisis 19:

# Genetic test Affiliating Genes
1 Nephronophthisis 19 30 DCDC2

Anatomical Context for Nephronophthisis 19

MalaCards organs/tissues related to Nephronophthisis 19:

42
Kidney, Liver

Publications for Nephronophthisis 19

Variations for Nephronophthisis 19

ClinVar genetic disease variations for Nephronophthisis 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DCDC2 NM_016356.4(DCDC2): c.649A> T (p.Lys217Ter) single nucleotide variant Pathogenic rs730880299 GRCh37 Chromosome 6, 24291215: 24291215
2 DCDC2 NM_016356.4(DCDC2): c.649A> T (p.Lys217Ter) single nucleotide variant Pathogenic rs730880299 GRCh38 Chromosome 6, 24290987: 24290987
3 DCDC2 NM_016356.4(DCDC2): c.123_124delGT (p.Ser42Glnfs) deletion Pathogenic rs757704417 GRCh37 Chromosome 6, 24357855: 24357856
4 DCDC2 NM_016356.4(DCDC2): c.123_124delGT (p.Ser42Glnfs) deletion Pathogenic rs757704417 GRCh38 Chromosome 6, 24357627: 24357628
5 DCDC2 NM_016356.4(DCDC2): c.349-2A> G single nucleotide variant Pathogenic rs760040426 GRCh37 Chromosome 6, 24302274: 24302274
6 DCDC2 NM_016356.4(DCDC2): c.349-2A> G single nucleotide variant Pathogenic rs760040426 GRCh38 Chromosome 6, 24302046: 24302046
7 DCDC2 NM_001195610.1(DCDC2): c.769C> T (p.Arg257Cys) single nucleotide variant Likely pathogenic rs909339162 GRCh37 Chromosome 6, 24278430: 24278430
8 DCDC2 NM_001195610.1(DCDC2): c.769C> T (p.Arg257Cys) single nucleotide variant Likely pathogenic rs909339162 GRCh38 Chromosome 6, 24278202: 24278202

Expression for Nephronophthisis 19

Search GEO for disease gene expression data for Nephronophthisis 19.

Pathways for Nephronophthisis 19

GO Terms for Nephronophthisis 19

Cellular components related to Nephronophthisis 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.77 DCDC2 NPHP1 NPHP4 OFD1 TMEM67
2 cell junction GO:0030054 9.76 MPP5 NPHP1 NPHP4 PATJ
3 cell projection GO:0042995 9.63 DCDC2 NPHP1 NPHP4 OFD1 TMEM67 UMOD
4 centrosome GO:0005813 9.62 NPHP4 OFD1 PATJ TMEM67
5 microtubule organizing center GO:0005815 9.56 DCDC2 NPHP4 OFD1 PATJ
6 ciliary membrane GO:0060170 9.48 TMEM67 UMOD
7 photoreceptor connecting cilium GO:0032391 9.43 NPHP1 NPHP4
8 ciliary transition zone GO:0035869 9.4 NPHP4 TMEM67
9 bicellular tight junction GO:0005923 9.26 MPP5 NPHP1 NPHP4 PATJ
10 cilium GO:0005929 9.1 DCDC2 NPHP1 NPHP4 OFD1 TMEM67 UMOD

Biological processes related to Nephronophthisis 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.5 DCDC2 OFD1 TMEM67
2 retina development in camera-type eye GO:0060041 9.46 NPHP1 NPHP4
3 cellular defense response GO:0006968 9.43 DCDC2 UMOD
4 excretion GO:0007588 9.4 NPHP1 UMOD
5 bicellular tight junction assembly GO:0070830 9.37 MPP5 PATJ
6 visual behavior GO:0007632 9.26 NPHP1 NPHP4
7 cell projection organization GO:0030030 9.26 DCDC2 NPHP1 OFD1 TMEM67
8 positive regulation of bicellular tight junction assembly GO:1903348 9.16 NPHP1 NPHP4
9 ciliary basal body-plasma membrane docking GO:0097711 8.92 NPHP1 NPHP4 OFD1 TMEM67

Sources for Nephronophthisis 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....