Nephronophthisis 19 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases Liver diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111126

OMIM ⁵⁷ 616217 PS256100

MeSH ⁴⁴ D052177

MedGen ⁴² C4015542 CN225923

UMLS ⁷² C4015542

Sources

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

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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:

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Symptoms & Phenotypes for Nephronophthisis 19

Human phenotypes related to Nephronophthisis 19:

³² (show all 7)

#	Description	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

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Drugs & Therapeutics for Nephronophthisis 19

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 19

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Genetic Tests for Nephronophthisis 19

Genetic tests related to Nephronophthisis 19:

#	Genetic test	Affiliating Genes
1	Nephronophthisis 19 ²⁹	DCDC2

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Anatomical Context for Nephronophthisis 19

MalaCards organs/tissues related to Nephronophthisis 19:

⁴¹

Liver, Kidney

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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	Schueler M...Hildebrandt F	25557784	2015
2	Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. ⁷¹	Grammatikopoulos T...Thompson RJ	27469900	2016
3	Nephronophthisis ⁷¹	Stokman M...Knoers N	27336129	2016

Sources

Genes for Nephronophthisis 19

Genes related to Nephronophthisis 19 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DCDC2	Doublecortin Domain Containing 2	Protein Coding	1027.04	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25557784 27469900 27336129
2	PATJ	PATJ Crumbs Cell Polarity Complex Component	Protein Coding	16.71	DISEASES inferred ¹⁵
3	TMEM67	Transmembrane Protein 67	Protein Coding	16.42	DISEASES inferred ¹⁵
4	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	16.27	DISEASES inferred ¹⁵
5	NPHP4	Nephrocystin 4	Protein Coding	16.22	DISEASES inferred ¹⁵
6	NPHP1	Nephrocystin 1	Protein Coding	15.82	DISEASES inferred ¹⁵
7	UMOD	Uromodulin	Protein Coding	15.23	DISEASES inferred ¹⁵
8	KAAG1	Kidney Associated Antigen 1	Protein Coding	7.17	GeneCards inferred via : Variants (show sections)
9	MPP5	Membrane Palmitoylated Protein 5	Protein Coding	6.6	DISEASES inferred ¹⁵

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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

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Expression for Nephronophthisis 19

Search GEO for disease gene expression data for Nephronophthisis 19.

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Pathways for Nephronophthisis 19

Pathways related to Nephronophthisis 19 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁶ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁶ AURKA Activation by TPX2 ⁶⁶ Centrosome maturation ⁶⁶ G2/M Transition ⁶⁶ Interaction between PHLDA1 and AURKA ⁶⁶ Loss of Nlp from mitotic centrosomes ⁶⁶ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁶ Mitotic G2-G2/M phases ⁶⁶ Polo-like kinase mediated events ⁶⁶ Recruitment of mitotic centrosome proteins and complexes ⁶⁶ Recruitment of NuMA to mitotic centrosomes ⁶⁶	12.24	TMEM67 OFD1 NPHP4 NPHP1
2	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	11.65	TMEM67 OFD1 NPHP4 NPHP1

Sources

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

Sources for Nephronophthisis 19

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Nephronophthisis 19 (NPHP19)

Aliases & Classifications for Nephronophthisis 19

MalaCards integrated aliases for Nephronophthisis 19:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Nephronophthisis 19

Related Diseases for Nephronophthisis 19

Diseases in the Nephronophthisis family:

Diseases related to Nephronophthisis 19 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Nephronophthisis 19

Human phenotypes related to Nephronophthisis 19:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Nephronophthisis 19:

Drugs & Therapeutics for Nephronophthisis 19

Genetic Tests for Nephronophthisis 19

Genetic tests related to Nephronophthisis 19:

Anatomical Context for Nephronophthisis 19

MalaCards organs/tissues related to Nephronophthisis 19:

Publications for Nephronophthisis 19

Articles related to Nephronophthisis 19:

Genes for Nephronophthisis 19

Genes related to Nephronophthisis 19 (1 elite genes):

Variations for Nephronophthisis 19

ClinVar genetic disease variations for Nephronophthisis 19:

Expression for Nephronophthisis 19

Pathways for Nephronophthisis 19

Pathways related to Nephronophthisis 19 according to GeneCards Suite gene sharing:

GO Terms for Nephronophthisis 19

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

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

Sources for Nephronophthisis 19