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 ⁷² ²⁹ ⁶ ¹⁵ ⁷⁰

Nphp19 ⁵⁷ ¹² ⁷²

Nephronophthisis, Type 19 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

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® ⁵⁷ 616217

OMIM Phenotypic Series ⁵⁷ PS256100

MeSH ⁴⁴ D052177

MedGen ⁴¹ C4015542 CN225923

SNOMED-CT via HPO ⁶⁸ 16294009 197446008 20239009 more

UMLS ⁷⁰ C4015542

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Summaries for Nephronophthisis 19

UniProtKB/Swiss-Prot : ⁷² 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 dyslexia 2 and sclerosing cholangitis, neonatal. 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, kidney and eye, 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 113)

#	Related Disease	Score	Top Affiliating Genes
1	dyslexia 2	10.3	KAAG1 DCDC2
2	sclerosing cholangitis, neonatal	10.3	KAAG1 DCDC2
3	deafness, autosomal recessive 66	10.3	KAAG1 DCDC2
4	late-onset nephronophthisis	10.3	XPNPEP3 NPHP3
5	nephronophthisis-like nephropathy 1	10.2	XPNPEP3 NPHP1
6	senior-boichis syndrome	10.2	TMEM67 KAAG1 DCDC2
7	renal dysplasia, cystic	10.2	NPHP3 CEP290
8	nephronophthisis 4	10.2	NPHP4 NPHP1
9	caroli disease	10.2	NPHP3 NPHP1 INVS
10	infantile nephronophthisis	10.2	NPHP4 NPHP3 INVS
11	leber congenital amaurosis 13	10.1	IQCB1 CEP290
12	joubert syndrome 14	10.1	TMEM216 NPHP4
13	ciliary dyskinesia, primary, 9	10.1	NPHP3 IFT88
14	retinitis pigmentosa 34	10.1	RPGR IQCB1
15	simpson-golabi-behmel syndrome, type 2	10.1	IFT88 CEP290
16	leber congenital amaurosis 3	10.1	NPHP4 IQCB1 CEP290
17	leber congenital amaurosis 4	10.0	IQCB1 CEP290
18	orofaciodigital syndrome i	10.0	IFT88 CEP290
19	retinal aplasia	10.0	NPHP4 NPHP1 IQCB1 CEP290
20	tubulointerstitial kidney disease, autosomal dominant, 1	9.9	NPHP4 NPHP1
21	retinal ciliopathy	9.9	RPGR IQCB1 CEP290
22	leber congenital amaurosis 10	9.9	RPGR IQCB1 CEP290
23	usher syndrome type 2	9.9	RPGR NPHP1 CEP290
24	acrocallosal syndrome	9.9	TMEM216 RPGRIP1L NPHP1 AHI1
25	nephronophthisis 13	9.9	NPHP4 NPHP3 NPHP1 IQCB1 INVS
26	nephronophthisis 18	9.9	NPHP4 NPHP3 NPHP1 IQCB1 INVS
27	cone-rod dystrophy 13	9.9	RPGRIP1L RPGR NPHP4 IQCB1
28	choroid disease	9.9	RPGR CEP290
29	joubert syndrome 15	9.9	RPGRIP1L NPHP4 NPHP1 CC2D2A
30	eye degenerative disease	9.9	RPGR IQCB1 CEP290
31	achromatopsia	9.9	RPGR IQCB1 CEP290
32	congenital hepatic fibrosis	9.8	TMEM67 RPGRIP1L CC2D2A AHI1
33	leber congenital amaurosis 6	9.8	MKS1 CEP290
34	leber congenital amaurosis 2	9.8	RPGR CEP290
35	bardet-biedl syndrome 13	9.8	MKS1 CEP290
36	bardet-biedl syndrome 11	9.8	RPGRIP1L MKS1 CEP290
37	joubert syndrome 24	9.8	RPGRIP1L NPHP1 IFT88 CEP290 AHI1
38	orofaciodigital syndrome	9.7	TMEM67 TMEM216 IFT88 CEP290
39	renal-hepatic-pancreatic dysplasia	9.7	NPHP4 NPHP3 NPHP1 IQCB1 INVS CEP290
40	nephronophthisis 15	9.7	NPHP4 NPHP3 NPHP1 IQCB1 INVS GLIS2
41	bardet-biedl syndrome 8	9.7	MKS1 IFT88 CEP290
42	bardet-biedl syndrome 3	9.7	MKS1 IFT88 CEP290
43	ciliopathy	9.6	TMEM67 RPGRIP1L NPHP4 CEP290 CC2D2A
44	apraxia	9.6	TMEM67 NPHP1 CEP290 CC2D2A AHI1
45	johanson-blizzard syndrome	9.6	TMEM216 RPGRIP1L CEP290 CC2D2A
46	arima syndrome	9.6	TMEM216 NPHP4 CEP290 CC2D2A
47	nephronophthisis 12	9.6	RPGRIP1L NPHP4 NPHP3 NPHP1 IQCB1 INVS
48	ellis-van creveld syndrome	9.6	TMEM216 RPGRIP1L INVS IFT88 CEP290
49	cogan syndrome	9.6	RPGRIP1L NPHP4 NPHP1 CEP290 CC2D2A AHI1
50	alstrom syndrome	9.5	RPGRIP1L RPGR NPHP3 IQCB1 INVS CEP290

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

Sources

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®:

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nephronophthisis 19:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.1	AHI1 CC2D2A CEP290 GLIS2 IFT88 INVS
2	cardiovascular system	MP:0005385	10.07	CC2D2A CEP290 IFT88 INVS MKS1 NPHP3
3	nervous system	MP:0003631	9.93	AHI1 CC2D2A CEP290 DCDC2 IFT88 MKS1
4	craniofacial	MP:0005382	9.8	CC2D2A CEP290 IFT88 MKS1 NPHP3 RPGRIP1L
5	renal/urinary system	MP:0005367	9.73	AHI1 CC2D2A CEP290 GLIS2 IFT88 INVS
6	vision/eye	MP:0005391	9.28	AHI1 CC2D2A CEP290 IFT88 MKS1 NPHP1

Sources

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

Sources

Anatomical Context for Nephronophthisis 19

MalaCards organs/tissues related to Nephronophthisis 19:

⁴⁰

Liver, Kidney, Eye

Sources

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 ⁵⁷	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 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 (2 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DCDC2	Doublecortin Domain Containing 2	Protein Coding	1055.93	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	25557784 27469900
2	KAAG1	Kidney Associated Antigen 1	Protein Coding	432.16	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	25557784 27469900
3	NPHP3	Nephrocystin 3	Protein Coding	7.06	DISEASES inferred ¹⁵
4	NPHP1	Nephrocystin 1	Protein Coding	6.86	DISEASES inferred ¹⁵
5	NPHP4	Nephrocystin 4	Protein Coding	6.58	DISEASES inferred ¹⁵
6	RPGRIP1L	RPGRIP1 Like	Protein Coding	6.46	DISEASES inferred ¹⁵
7	AHI1	Abelson Helper Integration Site 1	Protein Coding	6.44	DISEASES inferred ¹⁵
8	TMEM67	Transmembrane Protein 67	Protein Coding	6.4	DISEASES inferred ¹⁵
9	IQCB1	IQ Motif Containing B1	Protein Coding	6.38	DISEASES inferred ¹⁵
10	INVS	Inversin	Protein Coding	6.36	DISEASES inferred ¹⁵
11	XPNPEP3	X-Prolyl Aminopeptidase 3	Protein Coding	6.35	DISEASES inferred ¹⁵
12	CEP290	Centrosomal Protein 290	Protein Coding	6.24	DISEASES inferred ¹⁵
13	GLIS2	GLIS Family Zinc Finger 2	Protein Coding	6.18	DISEASES inferred ¹⁵
14	IFT88	Intraflagellar Transport 88	Protein Coding	5.96	DISEASES inferred ¹⁵
15	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	5.84	DISEASES inferred ¹⁵
16	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	5.71	DISEASES inferred ¹⁵
17	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	5.67	DISEASES inferred ¹⁵
18	TMEM216	Transmembrane Protein 216	Protein Coding	5.64	DISEASES inferred ¹⁵

Sources

Variations for Nephronophthisis 19

ClinVar genetic disease variations for Nephronophthisis 19:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	DCDC2	NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter)	SNV	Pathogenic	180687	rs730880299	GRCh37: 6:24291215-24291215 GRCh38: 6:24290987-24290987
2	DCDC2 , KAAG1	NM_016356.5(DCDC2):c.121_122GT[1] (p.Ser42fs)	Microsatellite	Pathogenic	180688	rs757704417	GRCh37: 6:24357855-24357856 GRCh38: 6:24357627-24357628
3	DCDC2	NM_016356.5(DCDC2):c.349-2A>G	SNV	Pathogenic	180689	rs760040426	GRCh37: 6:24302274-24302274 GRCh38: 6:24302046-24302046
4	DCDC2	NM_016356.5(DCDC2):c.549dup (p.Val184fs)	Duplication	Likely pathogenic	804454	rs1581640646	GRCh37: 6:24301950-24301951 GRCh38: 6:24301722-24301723
5	DCDC2 , KAAG1	NM_016356.5(DCDC2):c.223_293del (p.Arg75fs)	Deletion	Likely pathogenic	917935		GRCh37: 6:24357686-24357756 GRCh38: 6:24357458-24357528
6	DCDC2	NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys)	SNV	Uncertain significance	523063	rs909339162	GRCh37: 6:24278430-24278430 GRCh38: 6:24278202-24278202

Sources

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	12.64	TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP1 MKS1
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.13	TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP3 NPHP1

Sources

GO Terms for Nephronophthisis 19

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.41	XPNPEP3 TMEM67 TMEM216 RPGRIP1L RPGR NPHP4
2	cytosol	GO:0005829	10.31	XPNPEP3 TMEM216 RPGRIP1L NPHP4 NPHP3 NPHP1
3	cytoskeleton	GO:0005856	10.17	TMEM67 TMEM216 RPGRIP1L RPGR NPHP4 NPHP1
4	microtubule organizing center	GO:0005815	10.06	RPGRIP1L RPGR NPHP4 MKS1 IQCB1 IFT88
5	centrosome	GO:0005813	10.06	TMEM67 RPGRIP1L RPGR NPHP4 MKS1 IQCB1
6	ciliary basal body	GO:0036064	9.91	RPGRIP1L RPGR NPHP4 MKS1 IFT88 CEP290
7	centriole	GO:0005814	9.89	MKS1 IQCB1 IFT88 CEP290 AHI1
8	cell-cell junction	GO:0005911	9.83	RPGRIP1L NPHP4 NPHP1 AHI1
9	photoreceptor connecting cilium	GO:0032391	9.83	RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
10	cell projection	GO:0042995	9.8	TMEM67 TMEM216 RPGRIP1L RPGR NPHP4 NPHP3
11	non-motile cilium	GO:0097730	9.78	NPHP4 IFT88 GLIS2 AHI1
12	motile cilium	GO:0031514	9.73	RPGR NPHP1 IFT88
13	MKS complex	GO:0036038	9.73	TMEM67 TMEM216 MKS1 CEP290 CC2D2A AHI1
14	bicellular tight junction	GO:0005923	9.72	RPGRIP1L NPHP4 NPHP1
15	ciliary transition zone	GO:0035869	9.7	TMEM67 TMEM216 RPGRIP1L NPHP4 MKS1 CEP290
16	cilium	GO:0005929	9.5	TMEM67 TMEM216 RPGRIP1L RPGR NPHP4 NPHP3

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	ciliary basal body-plasma membrane docking	GO:0097711	9.85	TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP1 MKS1
2	kidney development	GO:0001822	9.72	RPGRIP1L NPHP3 IFT88 GLIS2 CC2D2A
3	cell projection organization	GO:0030030	9.7	TMEM67 TMEM216 RPGR NPHP1 MKS1 IQCB1
4	determination of left/right symmetry	GO:0007368	9.67	RPGRIP1L NPHP3 MKS1 CC2D2A
5	non-motile cilium assembly	GO:1905515	9.65	TMEM216 RPGRIP1L MKS1 IFT88 CC2D2A
6	photoreceptor cell maintenance	GO:0045494	9.61	NPHP4 NPHP3 IQCB1
7	motile cilium assembly	GO:0044458	9.58	MKS1 CC2D2A
8	inner ear receptor cell stereocilium organization	GO:0060122	9.58	MKS1 IFT88
9	regulation of smoothened signaling pathway	GO:0008589	9.57	RPGRIP1L MKS1
10	hindbrain development	GO:0030902	9.56	CEP290 AHI1
11	head development	GO:0060322	9.55	RPGRIP1L MKS1
12	embryonic brain development	GO:1990403	9.54	MKS1 CC2D2A
13	photoreceptor cell outer segment organization	GO:0035845	9.52	NPHP4 AHI1
14	protein localization to ciliary transition zone	GO:1904491	9.51	NPHP4 CC2D2A
15	positive regulation of bicellular tight junction assembly	GO:1903348	9.49	NPHP4 NPHP1
16	regulation of Wnt signaling pathway, planar cell polarity pathway	GO:2000095	9.48	NPHP3 MKS1
17	maintenance of animal organ identity	GO:0048496	9.46	NPHP3 IQCB1
18	visual behavior	GO:0007632	9.4	NPHP4 NPHP1
19	cilium assembly	GO:0060271	9.4	TMEM67 TMEM216 RPGRIP1L RPGR NPHP3 MKS1

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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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 (2 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