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 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:

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 ⁵⁸ 616217

MeSH ⁴⁵ D052177

MedGen ⁴³ C4015542 CN225923

SNOMED-CT via HPO ⁷⁰ 16294009 197446008 20239009 more

UMLS ⁷⁴ C4015542

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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

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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	10.3	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:

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Symptoms & Phenotypes for Nephronophthisis 19

Human phenotypes related to Nephronophthisis 19:

³³ (show all 7)

#	Description	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

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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 ³⁰	DCDC2

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Anatomical Context for Nephronophthisis 19

MalaCards organs/tissues related to Nephronophthisis 19:

⁴²

Kidney, Liver

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Publications for Nephronophthisis 19

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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	1027.41	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	25557784 27469900 27336129
2	PATJ	PATJ Crumbs Cell Polarity Complex Component	Protein Coding	16.81	DISEASES inferred ¹⁵
3	TMEM67	Transmembrane Protein 67	Protein Coding	16.45	DISEASES inferred ¹⁵
4	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	16.33	DISEASES inferred ¹⁵
5	NPHP4	Nephrocystin 4	Protein Coding	16.25	DISEASES inferred ¹⁵
6	NPHP1	Nephrocystin 1	Protein Coding	15.84	DISEASES inferred ¹⁵
7	UMOD	Uromodulin	Protein Coding	15.29	DISEASES inferred ¹⁵
8	KAAG1	Kidney Associated Antigen 1	Protein Coding	7.21	GeneCards inferred via : Variants (show sections)
9	MPP5	Membrane Palmitoylated Protein 5	Protein Coding	6.65	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	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

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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 ⁶⁷ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁷ AURKA Activation by TPX2 ⁶⁷ Centrosome maturation ⁶⁷ G2/M Transition ⁶⁷ Interaction between PHLDA1 and AURKA ⁶⁷ Loss of Nlp from mitotic centrosomes ⁶⁷ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁷ Mitotic G2-G2/M phases ⁶⁷ Polo-like kinase mediated events ⁶⁷ Recruitment of mitotic centrosome proteins and complexes ⁶⁷ Recruitment of NuMA to mitotic centrosomes ⁶⁷	12.24	NPHP1 NPHP4 OFD1 TMEM67
2	Organelle biogenesis and maintenance ⁶⁷ Show member pathways Cilium Assembly ⁶⁷	11.65	NPHP1 NPHP4 OFD1 TMEM67

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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

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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