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 ⁵⁶ ¹² ⁷³ ²⁹ ⁶ ¹⁵ ⁷¹

Nphp19 ⁵⁶ ¹² ⁷³

Nephronophthisis, Type 19 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

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 ⁵⁶ 616217

OMIM Phenotypic Series ⁵⁶ PS256100

MeSH ⁴³ D052177

MedGen ⁴¹ C4015542 CN225923

SNOMED-CT via HPO ⁶⁸ 16294009 197446008 20239009 more

UMLS ⁷¹ C4015542

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Summaries for Nephronophthisis 19

UniProtKB/Swiss-Prot : ⁷³ 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.

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 top 50) (show all 90)

#	Related Disease	Score	Top Affiliating Genes
1	sclerosing cholangitis, neonatal	10.3	KAAG1 DCDC2
2	deafness, autosomal recessive 66	10.3	KAAG1 DCDC2
3	senior-boichis syndrome	10.3	TMEM67 DCDC2
4	late-onset nephronophthisis	10.2	XPNPEP3 NPHP3
5	nephronophthisis-like nephropathy 1	10.2	XPNPEP3 NPHP1
6	cone-rod dystrophy 1	10.1	RPGR NPHP4
7	nephronophthisis 4	10.1	NPHP4 NPHP1
8	hyperuricemic nephropathy, familial juvenile, 1	10.1	NPHP4 NPHP1
9	renal dysplasia, cystic	10.1	NPHP3 CEP290
10	encephalocele	10.1	TMEM67 CEP290
11	leber congenital amaurosis 3	10.0	NPHP4 CEP290
12	caroli disease	10.0	NPHP3 INVS
13	joubert syndrome 15	10.0	RPGRIP1L NPHP4 NPHP1
14	oculomotor apraxia	10.0	NPHP1 AHI1
15	meckel syndrome, type 8	10.0	TMEM67 RPGRIP1L NPHP3
16	retinal ciliopathy	9.9	RPGR CEP290
17	congenital hepatic fibrosis	9.9	TMEM67 RPGRIP1L AHI1
18	retinal aplasia	9.9	NPHP4 NPHP1 CEP290
19	ciliopathy	9.9	TMEM67 RPGRIP1L NPHP4
20	orofaciodigital syndrome	9.9	TMEM67 NPHP1 CEP290
21	leber congenital amaurosis 10	9.9	RPGR CEP290
22	polycystic kidney disease	9.9	TMEM67 NPHP3 INVS
23	yemenite deaf-blind hypopigmentation syndrome	9.9	RPGR CEP290
24	retinitis pigmentosa 2	9.9	RPGR CEP290
25	infantile nephronophthisis	9.9	NPHP4 NPHP3 INVS
26	retinitis pigmentosa 28	9.8	RPGR CEP290
27	cone-rod dystrophy 13	9.8	RPGRIP1L RPGR NPHP4
28	asphyxiating thoracic dystrophy	9.8	RPGRIP1L NPHP4 CEP290
29	end stage renal disease	9.8	NPHP4 NPHP3 INVS
30	polycystic liver disease 1 with or without kidney cysts	9.8	NPHP4 NPHP1
31	choroid disease	9.8	RPGR CEP290
32	polycystic kidney disease 2 with or without polycystic liver disease	9.8	TMEM67 NPHP4 INVS
33	leber congenital amaurosis 2	9.7	RPGR CEP290
34	joubert syndrome 10	9.7	TMEM67 RPGRIP1L NPHP1 AHI1
35	johanson-blizzard syndrome	9.7	RPGRIP1L CEP290
36	cogan syndrome	9.7	NPHP4 NPHP1 CEP290 AHI1
37	nephronophthisis 18	9.7	NPHP4 NPHP3 NPHP1 INVS
38	joubert syndrome 24	9.6	RPGRIP1L NPHP1 CEP290 AHI1
39	bardet-biedl syndrome 14	9.6	TMEM67 RPGRIP1L NPHP3 CEP290
40	bardet-biedl syndrome 6	9.6	RPGRIP1L INVS CEP290
41	nephronophthisis 1	9.5	NPHP4 NPHP3 NPHP1 INVS AHI1
42	kidney disease	9.4	TMEM67 NPHP4 NPHP1 CEP290 AHI1
43	pathologic nystagmus	9.4	TMEM67 RPGR CEP290 AHI1
44	eye disease	9.4	RPGR NPHP4 NPHP1 CEP290
45	meckel syndrome, type 4	9.4	TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290
46	meckel syndrome, type 2	9.4	TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290
47	joubert syndrome 6	9.4	TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
48	meckel syndrome, type 5	9.4	TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290
49	joubert syndrome 9	9.4	TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
50	joubert syndrome 7	9.4	TMEM67 RPGRIP1L NPHP1 CEP290 AHI1

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:

³¹ (show all 7)

#	Description	HPO Source Accession
1	splenomegaly ³¹	HP:0001744
2	hepatomegaly ³¹	HP:0002240
3	hepatic fibrosis ³¹	HP:0001395
4	cholestasis ³¹	HP:0001396
5	nephronophthisis ³¹	HP:0000090
6	stage 5 chronic kidney disease ³¹	HP:0003774
7	bile duct proliferation ³¹	HP:0001408

Symptoms via clinical synopsis from OMIM:

⁵⁶

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:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.81	AHI1 CEP290 GLIS2 INVS NPHP1 NPHP3
2	nervous system	MP:0003631	9.61	AHI1 CEP290 DCDC2 NPHP1 NPHP3 NPHP4
3	renal/urinary system	MP:0005367	9.28	AHI1 CEP290 GLIS2 INVS NPHP1 NPHP3

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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:

⁴⁰

Kidney, Liver

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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. ⁶ ⁵⁶	Schueler M...Hildebrandt F	25557784	2015
2	Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. ⁶	Grammatikopoulos T...Thompson RJ	27469900	2016
3	Nephronophthisis ⁶	Stokman M...Knoers N	27336129	2016
4	Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report. ⁶¹	Slater B...Bekheirnia MR	31821705	2020

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Genes for Nephronophthisis 19

Genes related to Nephronophthisis 19 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DCDC2	Doublecortin Domain Containing 2	Protein Coding	1021.91	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	27469900 27336129 25557784
2	NPHP3	Nephrocystin 3	Protein Coding	7.12	DISEASES inferred ¹⁵
3	KAAG1	Kidney Associated Antigen 1	Protein Coding	7.02	GeneCards inferred via : Variants (show sections)
4	NPHP1	Nephrocystin 1	Protein Coding	6.92	DISEASES inferred ¹⁵
5	NPHP4	Nephrocystin 4	Protein Coding	6.63	DISEASES inferred ¹⁵
6	AHI1	Abelson Helper Integration Site 1	Protein Coding	6.47	DISEASES inferred ¹⁵
7	TMEM67	Transmembrane Protein 67	Protein Coding	6.46	DISEASES inferred ¹⁵
8	RPGRIP1L	RPGRIP1 Like	Protein Coding	6.41	DISEASES inferred ¹⁵
9	XPNPEP3	X-Prolyl Aminopeptidase 3	Protein Coding	6.38	DISEASES inferred ¹⁵
10	CEP290	Centrosomal Protein 290	Protein Coding	6.3	DISEASES inferred ¹⁵
11	INVS	Inversin	Protein Coding	6.28	DISEASES inferred ¹⁵
12	GLIS2	GLIS Family Zinc Finger 2	Protein Coding	6.22	DISEASES inferred ¹⁵
13	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	5.9	DISEASES inferred ¹⁵

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Variations for Nephronophthisis 19

ClinVar genetic disease variations for Nephronophthisis 19:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DCDC2	NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter)	SNV	Pathogenic	180687	rs730880299	6:24291215-24291215	6:24290987-24290987
2	DCDC2	NM_016356.5(DCDC2):c.121_122GT[1] (p.Ser42fs)	short repeat	Pathogenic	180688	rs757704417	6:24357855-24357856	6:24357627-24357628
3	DCDC2	NM_016356.5(DCDC2):c.349-2A>G	SNV	Pathogenic	180689	rs760040426	6:24302274-24302274	6:24302046-24302046
4	DCDC2	NM_016356.5(DCDC2):c.549dup (p.Val184fs)	duplication	Likely pathogenic	804454		6:24301950-24301951	6:24301722-24301723
5	DCDC2	NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys)	SNV	Uncertain significance	523063	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 ⁶⁵ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁵ AURKA Activation by TPX2 ⁶⁵ Centrosome maturation ⁶⁵ G2/M Transition ⁶⁵ Interaction between PHLDA1 and AURKA ⁶⁵ Loss of Nlp from mitotic centrosomes ⁶⁵ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁵ Mitotic G2-G2/M phases ⁶⁵ Polo-like kinase mediated events ⁶⁵ Recruitment of mitotic centrosome proteins and complexes ⁶⁵ Recruitment of NuMA to mitotic centrosomes ⁶⁵	12.42	TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290 AHI1
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	11.89	TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1 CEP290

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GO Terms for Nephronophthisis 19

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.25	XPNPEP3 TMEM67 RPGRIP1L RPGR NPHP4 NPHP1
2	centrosome	GO:0005813	9.91	TMEM67 RPGRIP1L RPGR NPHP4 CEP290 AHI1
3	microtubule organizing center	GO:0005815	9.88	RPGRIP1L RPGR NPHP4 DCDC2 CEP290
4	cytoskeleton	GO:0005856	9.81	TMEM67 RPGRIP1L RPGR NPHP4 NPHP1 INVS
5	cell-cell junction	GO:0005911	9.8	RPGRIP1L NPHP4 NPHP1 AHI1
6	ciliary basal body	GO:0036064	9.77	RPGRIP1L RPGR NPHP4 CEP290 AHI1
7	bicellular tight junction	GO:0005923	9.7	RPGRIP1L NPHP4 NPHP1
8	cell projection	GO:0042995	9.65	TMEM67 RPGRIP1L RPGR NPHP4 NPHP3 NPHP1
9	non-motile cilium	GO:0097730	9.63	NPHP4 GLIS2 AHI1
10	photoreceptor connecting cilium	GO:0032391	9.62	RPGRIP1L NPHP4 NPHP1 CEP290
11	MKS complex	GO:0036038	9.58	TMEM67 CEP290 AHI1
12	ciliary transition zone	GO:0035869	9.56	TMEM67 RPGRIP1L NPHP4 CEP290
13	cilium	GO:0005929	9.32	TMEM67 RPGRIP1L RPGR NPHP4 NPHP3 NPHP1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of canonical Wnt signaling pathway	GO:0090090	9.63	NPHP4 NPHP3 INVS
2	cell projection organization	GO:0030030	9.63	TMEM67 RPGR NPHP1 DCDC2 CEP290 AHI1
3	kidney development	GO:0001822	9.58	RPGRIP1L NPHP3 GLIS2
4	photoreceptor cell maintenance	GO:0045494	9.48	NPHP4 NPHP3
5	hindbrain development	GO:0030902	9.43	CEP290 AHI1
6	ciliary basal body-plasma membrane docking	GO:0097711	9.43	TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290 AHI1
7	photoreceptor cell outer segment organization	GO:0035845	9.37	NPHP4 AHI1
8	positive regulation of bicellular tight junction assembly	GO:1903348	9.32	NPHP4 NPHP1
9	visual behavior	GO:0007632	9.26	NPHP4 NPHP1
10	cilium assembly	GO:0060271	9.17	TMEM67 RPGRIP1L RPGR NPHP3 DCDC2 CEP290

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 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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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