MCID: NPH077
MIFTS: 24

Nephronophthisis 19

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 19

MalaCards integrated aliases for Nephronophthisis 19:

Name: Nephronophthisis 19 57 12 75 29 6 73
Nphp19 57 12 75
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:



Summaries for Nephronophthisis 19

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include liver and kidney, and related phenotypes are nephronophthisis and hepatic fibrosis

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

Symptoms & Phenotypes for Nephronophthisis 19

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly
hepatic fibrosis
destruction of bile ducts
bile duct proliferation
cholestasis

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)

AbdomenSpleen:
splenomegaly


Clinical features from OMIM:

616217

Human phenotypes related to Nephronophthisis 19:

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

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

Variations for Nephronophthisis 19

ClinVar genetic disease variations for Nephronophthisis 19:

6
(show all 14)
# 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_016356.4(DCDC2): c.383C> G (p.Ser128Ter) single nucleotide variant Pathogenic rs904520404 GRCh37 Chromosome 6, 24302238: 24302238
8 DCDC2 NM_016356.4(DCDC2): c.383C> G (p.Ser128Ter) single nucleotide variant Pathogenic rs904520404 GRCh38 Chromosome 6, 24302010: 24302010
9 DCDC2 NM_016356.4(DCDC2): c.942delT (p.Gly315Glufs) deletion Likely pathogenic GRCh37 Chromosome 6, 24205311: 24205311
10 DCDC2 NM_016356.4(DCDC2): c.942delT (p.Gly315Glufs) deletion Likely pathogenic GRCh38 Chromosome 6, 24205083: 24205083
11 DCDC2 NM_016356.4(DCDC2): c.294-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 6, 24353853: 24353853
12 DCDC2 NM_016356.4(DCDC2): c.294-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 6, 24353625: 24353625
13 DCDC2 NM_001195610.1(DCDC2): c.769C> T (p.Arg257Cys) single nucleotide variant Likely pathogenic rs909339162 GRCh37 Chromosome 6, 24278430: 24278430
14 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

Sources for Nephronophthisis 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....