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

MCID: RNL059 MIFTS: 32	Renal-Hepatic-Pancreatic Dysplasia Categories: Liver diseases, Nephrological diseases, Fetal diseases, Rare diseases, Endocrine diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Download Expand all tables

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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 ⁵⁹ ³⁷ ²⁹ ¹³ ⁶ ¹⁵ ⁷³

Renohepaticopancreatic Dysplasia ⁵⁹

Ivemark Ii Syndrome ⁵⁹

Ivemark's Syndrome ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

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: ⁵⁹

Rare hepatic diseases

Rare renal diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060259

Orphanet ⁵⁹ ORPHA294415

UMLS via Orphanet ⁷⁴ C2673883

KEGG ³⁷ H00543

UMLS ⁷³ C2673883

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Summaries for Renal-Hepatic-Pancreatic Dysplasia

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

MalaCards based summary : Renal-Hepatic-Pancreatic Dysplasia, also known as renohepaticopancreatic dysplasia, is related to meckel syndrome, type 7 and renal-hepatic-pancreatic dysplasia 2. An important gene associated with Renal-Hepatic-Pancreatic Dysplasia is NPHP3 (Nephrocystin 3), and among its related pathways/superpathways is Canonical and Non-canonical Notch signaling. Affiliated tissues include liver, and related phenotypes are growth/size/body region and liver/biliary system

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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 all 34)

#	Related Disease	Score	Top Affiliating Genes
1	meckel syndrome, type 7	33.7	NPHP3 NPHP3-ACAD11
2	renal-hepatic-pancreatic dysplasia 2	12.7
3	renal-hepatic-pancreatic dysplasia 1	12.6
4	nephronophthisis 3	10.8	NPHP3 NPHP3-ACAD11
5	senior-løken syndrome	10.7	IQCB1 NPHP3
6	nephronophthisis 2	10.7	INVS NPHP3
7	infantile nephronophthisis	10.6	INVS NEK8 NPHP3
8	pancreatitis	10.5
9	hepatitis	10.5
10	juvenile nephronophthisis	10.5	INVS IQCB1 NPHP3
11	nephronophthisis 1	10.5	INVS NPHP3
12	senior-loken syndrome 1	10.5	INVS IQCB1 NPHP3
13	cystic kidney disease	10.3	INVS NEK8 NPHP3 PKHD1
14	transverse colon cancer	10.2	ETFA KRT7
15	polycystic kidney disease 4 with or without polycystic liver disease	10.1	NEK8 PKDREJ PKHD1
16	nodular regenerative hyperplasia	10.1	JAG1 NOTCH2
17	leber congenital amaurosis	10.0	IQCB1 NPHP3 NPHP3-ACAD11 RBP1
18	cleft palate, isolated	9.9
19	short-rib thoracic dysplasia 1 with or without polydactyly	9.9
20	ellis-van creveld syndrome	9.9
21	situs inversus	9.9
22	cervical adenoma malignum	9.9	CALD1 KRT7
23	joubert syndrome 1	9.9	ARL3 INVS IQCB1
24	congenital pancreatic cyst	9.8
25	cervical mucinous adenocarcinoma	9.8	CALD1 KRT7
26	hajdu-cheney syndrome	9.7	JAG1 NOTCH2 PKDREJ
27	visceral heterotaxy	9.7	INVS NODAL NPHP3 PKDREJ
28	nephronophthisis	9.7	INVS IQCB1 NEK8 NPHP3 NPHP3-ACAD11 PKHD1
29	pseudopapilledema	9.6	JAG1 RET
30	urethral diverticulum	9.6	KRT7 PKDREJ
31	ovarian germ cell teratoma	9.5	KRT7 RET
32	ovarian germ cell cancer	9.5	KRT7 RET
33	autosomal genetic disease	9.4	PKDREJ PKHD1 RET
34	shoulder impingement syndrome	9.1	JAG1 RET

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	growth/size/body region	MP:0005378	9.85	ARL3 INVS JAG1 NEK8 NODAL NOTCH2
2	liver/biliary system	MP:0005370	9.5	ARL3 INVS JAG1 NODAL NOTCH2 PKHD1
3	renal/urinary system	MP:0005367	9.28	ARL3 INVS JAG1 KRT7 NEK8 NOTCH2

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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	NPHP3

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Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

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

⁴¹

Liver

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Publications for Renal-Hepatic-Pancreatic Dysplasia

Articles related to Renal-Hepatic-Pancreatic Dysplasia:

(show all 16)

#	Title	Authors	Year
1	Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. ( 23686967 )	Copelovitch L....Kaplan B.S.	2013
2	Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder. ( 23438674 )	Kapur R.P....Fligner C.L.	2013
3	Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. ( 20007846 )	Fiskerstrand T....Knappskog P.M.	2010
4	Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic- pancreatic dysplasia. ( 18371931 )	Bergmann C....Omran H.	2008
5	Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12. ( 17593545 )	Schrader K.A....Langlois S.	2007
6	Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). ( 17605805 )	Vankalakunti M....Das A.	2007
7	Prenatal sonographic appearance of congenital bile duct dilatation associated with renal-hepatic-pancreatic dysplasia. ( 15170806 )	Boopathy Vijayaraghavan S....Raman M.L.	2004
8	MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and MA1llerian duct anomalies. ( 11807905 )	Witters I....Fryns J.P.	2002
9	Renal-hepatic-pancreatic dysplasia: a broad entity. ( 11186898 )	White S.M....Bowker C.M.	2000
10	Ivemark's renal-hepatic-pancreatic dysplasia: analytic approach to a perinatal autopsy. ( 9841713 )	Bendon R.W.	1999
11	Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure. ( 8874114 )	Neuhaus T.J....Leumann E.P.	1996
12	Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. ( 8733053 )	Torra R....Estivill X.	1996
13	Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? ( 1785635 )	Hunter A.G....Tawagi F.G.	1991
14	Renal-hepatic-pancreatic dysplasia and its variants. ( 1741971 )	Lurie I.W....Burakovski I.V.	1991
15	Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? ( 2325105 )	Brueton L.A....Winter R.M.	1990
16	Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. ( 3812591 )	Bernstein J....Wybel R.E.	1987

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Genes for Renal-Hepatic-Pancreatic Dysplasia

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

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NPHP3	Nephrocystin 3	Protein Coding	909.1	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
2	NEK8	NIMA Related Kinase 8	Protein Coding	384.67	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
3	INVS	Inversin	Protein Coding	21.13	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	PKHD1	PKHD1, Fibrocystin/Polyductin	Protein Coding	17.07	GeneCards inferred via : Publications (show sections)
5	ARL3	ADP Ribosylation Factor Like GTPase 3	Protein Coding	16.31	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	IQCB1	IQ Motif Containing B1	Protein Coding	16.05	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	RCC1	Regulator Of Chromosome Condensation 1	Protein Coding	15.74	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	ETFA	Electron Transfer Flavoprotein Subunit Alpha	Protein Coding	15.67	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	RBP1	Retinol Binding Protein 1	Protein Coding	15.32	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	NOTCH2	Notch 2	Protein Coding	14.68	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	NODAL	Nodal Growth Differentiation Factor	Protein Coding	14.51	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	JAG1	Jagged 1	Protein Coding	14.36	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	PKDREJ	Polycystin Family Receptor For Egg Jelly	Protein Coding	14.02	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	KRT7	Keratin 7	Protein Coding	13.74	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
15	RET	Ret Proto-Oncogene	Protein Coding	13.58	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
16	NPHP3-ACAD11	NPHP3-ACAD11 Readthrough (NMD Candidate)	RNA Gene	9.95	GeneCards inferred via : Variants (show sections)
17	NPHP3-AS1	NPHP3 Antisense RNA 1	RNA Gene	9.01	GeneCards inferred via : Variants (show sections)
18	CALD1	Caldesmon 1	Protein Coding	4.76	DISEASES inferred ¹⁵

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Variations for Renal-Hepatic-Pancreatic Dysplasia

ClinVar genetic disease variations for Renal-Hepatic-Pancreatic Dysplasia:

⁶

(show top 50) (show all 139)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NPHP3	NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter)	single nucleotide variant	Pathogenic	rs119456962	GRCh37	Chromosome 3, 132419192: 132419192
2	NPHP3	NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter)	single nucleotide variant	Pathogenic	rs119456962	GRCh38	Chromosome 3, 132700348: 132700348
3	NPHP3	NM_153240.4(NPHP3): c.2918G> A (p.Arg973Gln)	single nucleotide variant	Pathogenic	rs119456963	GRCh37	Chromosome 3, 132407701: 132407701
4	NPHP3	NM_153240.4(NPHP3): c.2918G> A (p.Arg973Gln)	single nucleotide variant	Pathogenic	rs119456963	GRCh38	Chromosome 3, 132688857: 132688857
5	NPHP3	NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter)	single nucleotide variant	Pathogenic	rs119456964	GRCh37	Chromosome 3, 132403628: 132403628
6	NPHP3	NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter)	single nucleotide variant	Pathogenic	rs119456964	GRCh38	Chromosome 3, 132684784: 132684784
7	NPHP3	NPHP3, IVS13DS, G-A, +5	single nucleotide variant	Pathogenic
8	NPHP3	NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro)	single nucleotide variant	Likely pathogenic	rs398124546	GRCh37	Chromosome 3, 132411604: 132411604
9	NPHP3	NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro)	single nucleotide variant	Likely pathogenic	rs398124546	GRCh38	Chromosome 3, 132692760: 132692760
10	NPHP3	NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter)	single nucleotide variant	Pathogenic	rs368138001	GRCh37	Chromosome 3, 132403595: 132403595
11	NPHP3	NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter)	single nucleotide variant	Pathogenic	rs368138001	GRCh38	Chromosome 3, 132684751: 132684751
12	NPHP3	NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34391943	GRCh37	Chromosome 3, 132403418: 132403418
13	NPHP3	NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34391943	GRCh38	Chromosome 3, 132684574: 132684574
14	NPHP3	NM_153240.4(NPHP3): c.57G> C (p.Thr19=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs192633696	GRCh37	Chromosome 3, 132441143: 132441143
15	NPHP3	NM_153240.4(NPHP3): c.57G> C (p.Thr19=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs192633696	GRCh38	Chromosome 3, 132722299: 132722299
16	NPHP3	NM_153240.4(NPHP3): c.450G> A (p.Ala150=)	single nucleotide variant	Benign/Likely benign	rs78527322	GRCh37	Chromosome 3, 132438618: 132438618
17	NPHP3	NM_153240.4(NPHP3): c.450G> A (p.Ala150=)	single nucleotide variant	Benign/Likely benign	rs78527322	GRCh38	Chromosome 3, 132719774: 132719774
18	NPHP3	NM_153240.4(NPHP3): c.105G> A (p.Lys35=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377060857	GRCh37	Chromosome 3, 132441095: 132441095
19	NPHP3	NM_153240.4(NPHP3): c.105G> A (p.Lys35=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377060857	GRCh38	Chromosome 3, 132722251: 132722251
20	NPHP3	NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs)	deletion	Pathogenic	rs758558609	GRCh37	Chromosome 3, 132440927: 132440927
21	NPHP3	NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs)	deletion	Pathogenic	rs758558609	GRCh38	Chromosome 3, 132722083: 132722083
22	NPHP3	NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs)	deletion	Pathogenic	rs763300393	GRCh37	Chromosome 3, 132438631: 132438634
23	NPHP3	NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs)	deletion	Pathogenic	rs763300393	GRCh38	Chromosome 3, 132719787: 132719790
24	NPHP3	NM_153240.4(NPHP3): c.864T> A (p.Thr288=)	single nucleotide variant	Benign/Likely benign	rs147932449	GRCh37	Chromosome 3, 132434022: 132434022
25	NPHP3	NM_153240.4(NPHP3): c.864T> A (p.Thr288=)	single nucleotide variant	Benign/Likely benign	rs147932449	GRCh38	Chromosome 3, 132715178: 132715178
26	NPHP3	NM_153240.4(NPHP3): c.3913C> T (p.Arg1305Cys)	single nucleotide variant	Benign/Likely benign	rs35485382	GRCh37	Chromosome 3, 132400834: 132400834
27	NPHP3	NM_153240.4(NPHP3): c.3913C> T (p.Arg1305Cys)	single nucleotide variant	Benign/Likely benign	rs35485382	GRCh38	Chromosome 3, 132681990: 132681990
28	NPHP3	NM_153240.4(NPHP3): c.3763C> T (p.Arg1255Trp)	single nucleotide variant	Uncertain significance	rs146054765	GRCh38	Chromosome 3, 132682752: 132682752
29	NPHP3	NM_153240.4(NPHP3): c.3763C> T (p.Arg1255Trp)	single nucleotide variant	Uncertain significance	rs146054765	GRCh37	Chromosome 3, 132401596: 132401596
30	NPHP3	NM_153240.4(NPHP3): c.2694-2_2694-1delAG	deletion	Pathogenic	rs751527253	GRCh38	Chromosome 3, 132689264: 132689265
31	NPHP3	NM_153240.4(NPHP3): c.2694-2_2694-1delAG	deletion	Pathogenic	rs751527253	GRCh37	Chromosome 3, 132408108: 132408109
32	NPHP3	NM_153240.4(NPHP3): c.3759G> A (p.Leu1253=)	single nucleotide variant	Benign	rs6794496	GRCh37	Chromosome 3, 132401600: 132401600
33	NPHP3	NM_153240.4(NPHP3): c.3759G> A (p.Leu1253=)	single nucleotide variant	Benign	rs6794496	GRCh38	Chromosome 3, 132682756: 132682756
34	NPHP3	NM_153240.4(NPHP3): c.3125+12dupT	duplication	Benign	rs11396595	GRCh37	Chromosome 3, 132407482: 132407482
35	NPHP3	NM_153240.4(NPHP3): c.3125+12dupT	duplication	Benign	rs11396595	GRCh38	Chromosome 3, 132688638: 132688638
36	NPHP3	NM_153240.4(NPHP3): c.670+13C> T	single nucleotide variant	Uncertain significance	rs202228115	GRCh38	Chromosome 3, 132718981: 132718981
37	NPHP3	NM_153240.4(NPHP3): c.670+13C> T	single nucleotide variant	Uncertain significance	rs202228115	GRCh37	Chromosome 3, 132437825: 132437825
38	NPHP3	NM_153240.4(NPHP3): c.189G> C (p.Gly63=)	single nucleotide variant	Uncertain significance	rs750280281	GRCh37	Chromosome 3, 132441011: 132441011
39	NPHP3	NM_153240.4(NPHP3): c.189G> C (p.Gly63=)	single nucleotide variant	Uncertain significance	rs750280281	GRCh38	Chromosome 3, 132722167: 132722167
40	NPHP3	NM_153240.4(NPHP3): c.408G> A (p.Thr136=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141410951	GRCh37	Chromosome 3, 132438660: 132438660
41	NPHP3	NM_153240.4(NPHP3): c.408G> A (p.Thr136=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141410951	GRCh38	Chromosome 3, 132719816: 132719816
42	NPHP3	NM_153240.4(NPHP3): c.1525-5delT	deletion	Conflicting interpretations of pathogenicity	rs769466015	GRCh37	Chromosome 3, 132420382: 132420382
43	NPHP3	NM_153240.4(NPHP3): c.1525-5delT	deletion	Conflicting interpretations of pathogenicity	rs769466015	GRCh38	Chromosome 3, 132701538: 132701538
44	NPHP3	NM_153240.4(NPHP3): c.2769C> T (p.Phe923=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs116174472	GRCh37	Chromosome 3, 132408032: 132408032
45	NPHP3	NM_153240.4(NPHP3): c.2769C> T (p.Phe923=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs116174472	GRCh38	Chromosome 3, 132689188: 132689188
46	NPHP3	NM_153240.4(NPHP3): c.233G> T (p.Gly78Val)	single nucleotide variant	Uncertain significance	rs202142404	GRCh37	Chromosome 3, 132440967: 132440967
47	NPHP3	NM_153240.4(NPHP3): c.233G> T (p.Gly78Val)	single nucleotide variant	Uncertain significance	rs202142404	GRCh38	Chromosome 3, 132722123: 132722123
48	NPHP3	NM_153240.4(NPHP3): c.*1213T> C	single nucleotide variant	Uncertain significance	rs886057994	GRCh38	Chromosome 3, 132680697: 132680697
49	NPHP3	NM_153240.4(NPHP3): c.*1213T> C	single nucleotide variant	Uncertain significance	rs886057994	GRCh37	Chromosome 3, 132399541: 132399541
50	NPHP3	NM_153240.4(NPHP3): c.*1121A> G	single nucleotide variant	Uncertain significance	rs576904017	GRCh38	Chromosome 3, 132680789: 132680789

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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	Canonical and Non-canonical Notch signaling ¹	10.05	JAG1 NOTCH2

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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:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.43	ARL3 CALD1 INVS IQCB1 NEK8 PKHD1
2	cilium	GO:0005929	9.02	ARL3 INVS NEK8 NPHP3 PKHD1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	animal organ morphogenesis	GO:0009887	9.61	JAG1 NEK8 NOTCH2
2	kidney development	GO:0001822	9.54	ARL3 NPHP3 PKHD1
3	determination of left/right symmetry	GO:0007368	9.43	NEK8 NODAL NPHP3
4	cell fate determination	GO:0001709	9.4	JAG1 NOTCH2
5	pulmonary valve morphogenesis	GO:0003184	9.32	JAG1 NOTCH2
6	cilium assembly	GO:0060271	9.26	ARL3 IQCB1 NPHP3 PKHD1
7	Notch signaling involved in heart development	GO:0061314	9.16	JAG1 NOTCH2
8	maintenance of animal organ identity	GO:0048496	8.62	IQCB1 NPHP3

Sources

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia