NPHP19
MCID: NPH077
MIFTS: 36

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 57 12 74 29 6 15 72
Nphp19 57 12 74
Nephronophthisis, Type 19 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
nephronophthisis 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111126
MeSH 44 D052177
UMLS 72 C4015542

Summaries for Nephronophthisis 19

UniProtKB/Swiss-Prot : 74 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 liver and kidney, 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.

More information from OMIM: 616217 PS256100

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 10.4 KAAG1 DCDC2
2 deafness, autosomal recessive 66 10.4 KAAG1 DCDC2
3 senior-boichis syndrome 10.4 TMEM67 DCDC2
4 patau syndrome 10.2 TMEM67 OFD1
5 joubert syndrome 6 10.1 TMEM67 NPHP1
6 joubert syndrome 2 10.0 TMEM67 NPHP1
7 meckel syndrome, type 3 10.0 TMEM67 NPHP1
8 nephronophthisis 1 10.0 NPHP4 NPHP1
9 hydrolethalus syndrome 1 10.0 TMEM67 OFD1
10 juvenile nephronophthisis 9.9 NPHP4 NPHP1
11 retinal aplasia 9.9 NPHP4 NPHP1
12 nephronophthisis 18 9.9 NPHP4 NPHP1
13 nephronophthisis 4 9.9 NPHP4 NPHP1
14 nephronophthisis 2 9.8 NPHP4 NPHP1
15 cogan syndrome 9.8 NPHP4 NPHP1
16 nephronophthisis 9 9.8 NPHP4 NPHP1
17 polycystic kidney disease 4 with or without polycystic liver disease 9.6 TMEM67 OFD1
18 nephronophthisis 11 9.6 TMEM67 NPHP4 NPHP1
19 senior-loken syndrome 1 9.6 TMEM67 NPHP4 NPHP1
20 apraxia 9.6 NPHP4 NPHP1
21 kidney disease 9.3 UMOD TMEM67 NPHP1
22 bardet-biedl syndrome 9.3 TMEM67 NPHP4 NPHP1
23 leber congenital amaurosis 9.2 NPHP4 NPHP1 MPP5
24 meckel syndrome, type 6 9.2 TMEM67 OFD1 NPHP4 NPHP1
25 polycystic liver disease 1 with or without kidney cysts 9.2 UMOD NPHP4 NPHP1
26 meckel syndrome, type 1 9.2 TMEM67 OFD1 NPHP4 NPHP1
27 joubert syndrome 1 9.2 TMEM67 OFD1 NPHP4 NPHP1
28 cystic kidney disease 8.9 UMOD TMEM67 NPHP4 NPHP1
29 nephronophthisis 8.6 UMOD TMEM67 NPHP4 NPHP1 DCDC2

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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 hepatic fibrosis 32 HP:0001395
4 cholestasis 32 HP:0001396
5 nephronophthisis 32 HP:0000090
6 stage 5 chronic kidney disease 32 HP:0003774
7 bile duct proliferation 32 HP:0001408

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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 29 DCDC2

Anatomical Context for Nephronophthisis 19

MalaCards organs/tissues related to Nephronophthisis 19:

41
Liver, Kidney

Publications for Nephronophthisis 19

Articles related to Nephronophthisis 19:

# Title Authors PMID Year
1
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. 8 71
25557784 2015
2
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. 71
27469900 2016
3
Nephronophthisis 71
27336129 2016

Variations for Nephronophthisis 19

ClinVar genetic disease variations for Nephronophthisis 19:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DCDC2 NM_016356.5(DCDC2): c.649A> T (p.Lys217Ter) single nucleotide variant Pathogenic rs730880299 6:24291215-24291215 6:24290987-24290987
2 DCDC2 NM_016356.5(DCDC2): c.121_122GT[1] (p.Ser42fs) short repeat Pathogenic rs757704417 6:24357855-24357856 6:24357627-24357628
3 DCDC2 NM_016356.5(DCDC2): c.349-2A> G single nucleotide variant Pathogenic rs760040426 6:24302274-24302274 6:24302046-24302046
4 DCDC2 NM_016356.5(DCDC2): c.769C> T (p.Arg257Cys) single nucleotide variant Likely pathogenic rs909339162 6:24278430-24278430 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 TMEM67 OFD1 NPHP4 NPHP1 DCDC2
2 cell junction GO:0030054 9.76 PATJ NPHP4 NPHP1 MPP5
3 cell projection GO:0042995 9.63 UMOD TMEM67 OFD1 NPHP4 NPHP1 DCDC2
4 centrosome GO:0005813 9.62 TMEM67 PATJ OFD1 NPHP4
5 microtubule organizing center GO:0005815 9.56 PATJ OFD1 NPHP4 DCDC2
6 ciliary membrane GO:0060170 9.48 UMOD TMEM67
7 photoreceptor connecting cilium GO:0032391 9.43 NPHP4 NPHP1
8 ciliary transition zone GO:0035869 9.4 TMEM67 NPHP4
9 bicellular tight junction GO:0005923 9.26 PATJ NPHP4 NPHP1 MPP5
10 cilium GO:0005929 9.1 UMOD TMEM67 OFD1 NPHP4 NPHP1 DCDC2

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

Sources for Nephronophthisis 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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