Renal-Hepatic-Pancreatic Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Renal-Hepatic-Pancreatic Dysplasia

MalaCards integrated aliases for Renal-Hepatic-Pancreatic Dysplasia:

Name: Renal-Hepatic-Pancreatic Dysplasia ¹² ⁵⁸ ³⁶ ²⁹ ¹⁵ ⁷⁰

Renohepaticopancreatic Dysplasia ⁵⁸

Ivemark Ii Syndrome ⁵⁸

Ivemark's Syndrome ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

renal-hepatic-pancreatic dysplasia
Inheritance: Autosomal recessive;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Liver diseases Nephrological diseases Endocrine diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare hepatic diseases

Rare renal diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060259

KEGG ³⁶ H00543

UMLS via Orphanet ⁷¹ C2673883

Orphanet ⁵⁸ ORPHA294415

UMLS ⁷⁰ C2673883

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Summaries for Renal-Hepatic-Pancreatic Dysplasia

KEGG : ³⁶ Renal-hepatic-pancreatic dysplasia is a rare lethal disorder characterized by pancreatic cyst formation in addition to the combination of renal dysplasia and hepatic fibrosis. NPHP3-null mutations cause the disorder.

MalaCards based summary : Renal-Hepatic-Pancreatic Dysplasia, also known as renohepaticopancreatic dysplasia, is related to renal-hepatic-pancreatic dysplasia 1 and meckel syndrome, type 7. An important gene associated with Renal-Hepatic-Pancreatic Dysplasia is NPHP3 (Nephrocystin 3), 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 pancreas, and related phenotypes are cardiovascular system and cellular

Disease Ontology : ¹² A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.

Wikipedia : ⁷³ Renal-hepatic-pancreatic dysplasia is an autosomal recessive congenital disorder characterized by... more...

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Related Diseases for Renal-Hepatic-Pancreatic Dysplasia

Diseases in the Renal-Hepatic-Pancreatic Dysplasia family:

Renal-Hepatic-Pancreatic Dysplasia 1

Renal-Hepatic-Pancreatic Dysplasia 2

Diseases related to Renal-Hepatic-Pancreatic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)

#	Related Disease	Score	Top Affiliating Genes
1	renal-hepatic-pancreatic dysplasia 1	33.1	NPHP3-AS1 NPHP3-ACAD11 NPHP3
2	meckel syndrome, type 7	33.0	NPHP3-AS1 NPHP3-ACAD11 NPHP3
3	nephronophthisis 3	30.6	NPHP3-AS1 NPHP3-ACAD11 NPHP3 NPHP1
4	caroli disease	30.1	PKHD1 NPHP3 NPHP1 INVS
5	ellis-van creveld syndrome	29.8	OFD1 INVS CEP290
6	ciliopathy	29.5	SDCCAG8 NPHP4 KIF7 CEP290
7	juvenile nephronophthisis	29.3	NPHP4 NPHP3-AS1 NPHP3-ACAD11 NPHP3 NPHP1 IQCB1
8	polydactyly	29.2	SDCCAG8 OFD1 KIF7 CEP290
9	short-rib thoracic dysplasia 1 with or without polydactyly	29.2	OFD1 NPHP1 KIF7 INVS CEP290
10	cystic kidney disease	29.1	PKHD1 OFD1 NPHP4 NPHP3 NPHP1 NEK8
11	polycystic kidney disease	28.9	PKHD1 OFD1 NPHP3-ACAD11 NPHP3 NEK8 INVS
12	polycystic kidney disease 4 with or without polycystic liver disease	28.6	PKHD1 OFD1 NPHP4 NPHP3 NPHP1 NEK8
13	visceral heterotaxy	28.5	OFD1 NPHP4 NPHP3 NPHP1 NEK8 IQCB1
14	nephronophthisis	27.4	SDCCAG8 PKHD1 OFD1 NPHP4 NPHP3-AS1 NPHP3-ACAD11
15	meckel syndrome, type 1	27.3	SDCCAG8 PKHD1 OFD1 NPHP4 NPHP3 NPHP1
16	renal-hepatic-pancreatic dysplasia 2	11.9
17	situs inversus	10.3
18	renal dysplasia	10.3
19	joubert syndrome 22	10.2	NPHP3 ARL3
20	cone-rod dystrophy 13	10.2	NPHP4 IQCB1
21	retinitis pigmentosa 34	10.2	OFD1 IQCB1
22	autosomal recessive disease	10.2
23	cholestasis	10.2
24	joubert syndrome 10	10.1	OFD1 NPHP1
25	heterotaxy	10.1
26	nephronophthisis 4	10.1	NPHP4 NPHP1
27	polycystic liver disease 1 with or without kidney cysts	10.1	PKHD1 NPHP4 NPHP1
28	nephronophthisis 1	10.1	NPHP4 NPHP3 NPHP1 INVS
29	retinal ciliopathy	10.1	IQCB1 CEP290
30	renal dysplasia, cystic	10.0	NPHP3 CEP290
31	polycystic kidney disease 2 with or without polycystic liver disease	10.0	PKHD1 NPHP4 NEK8 INVS
32	joubert syndrome 6	10.0	NPHP1 CEP290
33	cleft palate, isolated	10.0
34	anencephaly	10.0
35	roberts-sc phocomelia syndrome	10.0
36	caroli disease, isolated	10.0
37	polymicrogyria with or without vascular-type ehlers-danlos syndrome	10.0
38	cakut	10.0
39	autosomal dominant polycystic kidney disease	10.0
40	polymicrogyria	10.0
41	autosomal dominant tubulointerstitial kidney disease	10.0
42	choroid plexus cyst	10.0
43	chromosomal triplication	10.0
44	congenital hepatic fibrosis	10.0
45	lymphangiectasis	10.0
46	paternal uniparental disomy	10.0
47	congenital pancreatic cyst	10.0
48	joubert syndrome 24	10.0	NPHP1 CEP290
49	leber congenital amaurosis 13	10.0	IQCB1 CEP290
50	tubulointerstitial kidney disease, autosomal dominant, 1	10.0	NPHP4 NPHP1

Graphical network of the top 20 diseases related to Renal-Hepatic-Pancreatic Dysplasia:

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Symptoms & Phenotypes for Renal-Hepatic-Pancreatic Dysplasia

MGI Mouse Phenotypes related to Renal-Hepatic-Pancreatic Dysplasia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.81	CEP290 INVS KIF7 NEK8 NPHP3 NPHP4
2	cellular	MP:0005384	9.65	ARL3 CEP290 INVS KIF7 NPHP1 NPHP3
3	renal/urinary system	MP:0005367	9.32	ARL3 CEP290 INVS NEK8 NPHP1 NPHP3

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Drugs & Therapeutics for Renal-Hepatic-Pancreatic Dysplasia

Search Clinical Trials , NIH Clinical Center for Renal-Hepatic-Pancreatic Dysplasia

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Genetic Tests for Renal-Hepatic-Pancreatic Dysplasia

Genetic tests related to Renal-Hepatic-Pancreatic Dysplasia:

#	Genetic test	Affiliating Genes
1	Renal-Hepatic-Pancreatic Dysplasia ²⁹

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Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

MalaCards organs/tissues related to Renal-Hepatic-Pancreatic Dysplasia:

⁴⁰

Liver, Kidney, Pancreas

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Publications for Renal-Hepatic-Pancreatic Dysplasia

Articles related to Renal-Hepatic-Pancreatic Dysplasia:

(show all 26)

#	Title	Authors	PMID	Year
1	Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia. ⁶¹	Jordan P...Heidet L	33129895	2021
2	Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology. ⁶¹	Sharma S	32714619	2020
3	Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype. ⁶¹	Cagan Appak Y...Kasap Demir B	32341812	2020
4	Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis. ⁶¹	Inaguma Y...Tanaka R	30734414	2019
5	Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. ⁶¹	Rajagopalan R...Spinner NB	26697755	2016
6	Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. ⁶¹	Copelovitch L...Kaplan BS	23686967	2013
7	Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder. ⁶¹	Kapur RP...Fligner CL	23438674	2013
8	Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. ⁶¹	Fiskerstrand T...Knappskog PM	20007846	2010
9	Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. ⁶¹	Bergmann C...Omran H	18371931	2008
10	Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12. ⁶¹	Schrader KA...Langlois S	17593545	2007
11	Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). ⁶¹	Vankalakunti M...Das A	17605805	2007
12	ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development. ⁶¹	Schrick JJ...Rice DS	16565502	2006
13	Renohepaticopancreatic dysplasia: diagnostic dilemma. ⁶¹	Fernandez-Sein A...Lugo-Vicente H	15895877	2005
14	Prenatal sonographic appearance of congenital bile duct dilatation associated with renal-hepatic-pancreatic dysplasia. ⁶¹	Boopathy Vijayaraghavan S...Raman ML	15170806	2004
15	MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies. ⁶¹	Witters I...Fryns JP	11807905	2002
16	Clinical aspects of defects in the determination of laterality. ⁶¹	Aylsworth AS	11471158	2001
17	Renal-hepatic-pancreatic dysplasia: a broad entity. ⁶¹	White SM...Bowker CM	11186898	2000
18	Ivemark's renal-hepatic-pancreatic dysplasia: analytic approach to a perinatal autopsy. ⁶¹	Bendon RW	9841713	1999
19	Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure. ⁶¹	Neuhaus TJ...Leumann EP	8874114	1996
20	Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. ⁶¹	Torra R...Estivill X	8733053	1996
21	Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome? ⁶¹	Devriendt K...Eggermont E	8775219	1996
22	Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? ⁶¹	Hunter AG...Tawagi FG	1785635	1991
23	Renal-hepatic-pancreatic dysplasia and its variants. ⁶¹	Lurie IW...Burakovski IV	1741971	1991
24	Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? ⁶¹	Brueton LA...Winter RM	2325105	1990
25	Renal, pancreatic and hepatic dysplasia sequence. ⁶¹	Carles D...Gonnet JM	3396599	1988
26	Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. ⁶¹	Bernstein J...Wybel RE	3812591	1987

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Genes for Renal-Hepatic-Pancreatic Dysplasia

Genes related to Renal-Hepatic-Pancreatic Dysplasia (2 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NPHP3	Nephrocystin 3	Protein Coding	398.76	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	20007846 18371931
2	NEK8	NIMA Related Kinase 8	Protein Coding	374.5	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23418306
3	NPHP3-ACAD11	NPHP3-ACAD11 Readthrough (NMD Candidate)	RNA Gene	19.77	GeneCards inferred via : Publications Variants (show sections)
4	INVS	Inversin	Protein Coding	13.35	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	PKHD1	PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin	Protein Coding	12.66	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	NPHP3-AS1	NPHP3 Antisense RNA 1	RNA Gene	8.66	GeneCards inferred via : Variants (show sections)
7	NPHP4	Nephrocystin 4	Protein Coding	6.55	DISEASES inferred ¹⁵
8	IQCB1	IQ Motif Containing B1	Protein Coding	6.43	DISEASES inferred ¹⁵
9	NPHP1	Nephrocystin 1	Protein Coding	6.21	DISEASES inferred ¹⁵
10	ARL3	ADP Ribosylation Factor Like GTPase 3	Protein Coding	5.87	DISEASES inferred ¹⁵
11	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	5.58	DISEASES inferred ¹⁵
12	DNAJB11	DnaJ Heat Shock Protein Family (Hsp40) Member B11	Protein Coding	5.55	DISEASES inferred ¹⁵
13	VSTM4	V-Set And Transmembrane Domain Containing 4	Protein Coding	5.46	DISEASES inferred ¹⁵
14	KIF7	Kinesin Family Member 7	Protein Coding	5.45	DISEASES inferred ¹⁵
15	CEP290	Centrosomal Protein 290	Protein Coding	5.41	DISEASES inferred ¹⁵
16	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	5.32	DISEASES inferred ¹⁵
17	GAREM1	GRB2 Associated Regulator Of MAPK1 Subtype 1	Protein Coding	5.31	DISEASES inferred ¹⁵

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Variations for Renal-Hepatic-Pancreatic Dysplasia

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Expression for Renal-Hepatic-Pancreatic Dysplasia

Search GEO for disease gene expression data for Renal-Hepatic-Pancreatic Dysplasia.

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Pathways for Renal-Hepatic-Pancreatic Dysplasia

Pathways related to Renal-Hepatic-Pancreatic Dysplasia 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	SDCCAG8 OFD1 NPHP4 NPHP1 IQCB1 CEP290
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	11.95	SDCCAG8 OFD1 NPHP4 NPHP3 NPHP1 IQCB1

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GO Terms for Renal-Hepatic-Pancreatic Dysplasia

Cellular components related to Renal-Hepatic-Pancreatic Dysplasia according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.27	SDCCAG8 PKHD1 OFD1 NPHP4 NPHP3-ACAD11 NPHP1
2	microtubule organizing center	GO:0005815	9.95	SDCCAG8 OFD1 NPHP4 NEK8 IQCB1 CEP290
3	centrosome	GO:0005813	9.92	SDCCAG8 PKHD1 OFD1 NPHP4 NEK8 IQCB1
4	cell projection	GO:0042995	9.9	SDCCAG8 PKHD1 OFD1 NPHP4 NPHP3 NPHP1
5	ciliary basal body	GO:0036064	9.85	SDCCAG8 PKHD1 OFD1 NPHP4 KIF7 CEP290
6	centriole	GO:0005814	9.76	SDCCAG8 OFD1 IQCB1 CEP290
7	cytoskeleton	GO:0005856	9.73	SDCCAG8 PKHD1 OFD1 NPHP4 NPHP3-ACAD11 NPHP1
8	microtubule cytoskeleton	GO:0015630	9.69	OFD1 IQCB1 ARL3
9	centriolar satellite	GO:0034451	9.65	SDCCAG8 OFD1 CEP290
10	photoreceptor connecting cilium	GO:0032391	9.65	NPHP4 NPHP1 IQCB1 CEP290 ARL3
11	ciliary inversin compartment	GO:0097543	9.43	NEK8 INVS
12	cilium	GO:0005929	9.36	PKHD1 OFD1 NPHP4 NPHP3 NPHP1 NEK8

Biological processes related to Renal-Hepatic-Pancreatic Dysplasia according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of canonical Wnt signaling pathway	GO:0090090	9.7	NPHP4 NPHP3 INVS
2	cell-cell adhesion	GO:0098609	9.69	PKHD1 NPHP4 NPHP1
3	G2/M transition of mitotic cell cycle	GO:0000086	9.67	SDCCAG8 OFD1 CEP290
4	kidney development	GO:0001822	9.65	PKHD1 NPHP3 ARL3
5	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.61	SDCCAG8 OFD1 CEP290
6	cell projection organization	GO:0030030	9.55	SDCCAG8 OFD1 NPHP1 IQCB1 CEP290
7	photoreceptor cell maintenance	GO:0045494	9.5	NPHP4 NPHP3 IQCB1
8	epithelial cilium movement involved in determination of left/right asymmetry	GO:0060287	9.46	OFD1 NPHP3
9	cilium assembly	GO:0060271	9.43	PKHD1 OFD1 NPHP3 IQCB1 CEP290 ARL3
10	positive regulation of bicellular tight junction assembly	GO:1903348	9.4	NPHP4 NPHP1
11	maintenance of animal organ identity	GO:0048496	9.37	NPHP3 IQCB1
12	visual behavior	GO:0007632	9.26	NPHP4 NPHP1
13	ciliary basal body-plasma membrane docking	GO:0097711	9.1	SDCCAG8 OFD1 NPHP4 NPHP1 IQCB1 CEP290

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Sources for Renal-Hepatic-Pancreatic Dysplasia

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 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 05-Apr-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