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 ¹¹ ⁵⁸ ²⁸ ⁴³ ¹⁴ ⁷¹ ⁷⁵

Renohepaticopancreatic Dysplasia ⁵⁸

Ivemark Ii Syndrome ⁵⁸

Ivemark's Syndrome ¹¹

Characteristics:

Inheritance:

Autosomal recessive ⁵⁸

Age Of Onset:

Antenatal,Neonatal ⁵⁸

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 ¹¹ DOID:0060259

MeSH ⁴³ C567142

UMLS via Orphanet ⁷² C2673883

Orphanet ⁵⁸ ORPHA294415

UMLS ⁷¹ C2673883

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Summaries for Renal-Hepatic-Pancreatic Dysplasia

Orphanet: ⁵⁸ Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.

MalaCards based summary: Renal-Hepatic-Pancreatic Dysplasia, also known as renohepaticopancreatic dysplasia, is related to meckel syndrome, type 7 and renal dysplasia, cystic. An important gene associated with Renal-Hepatic-Pancreatic Dysplasia is NPHP3 (Nephrocystin 3), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include liver, spleen and fetal liver, and related phenotypes are growth/size/body region and renal/urinary system

Disease Ontology: ¹¹ A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.

Wikipedia: ⁷⁵ 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 128)

#	Related Disease	Score	Top Affiliating Genes
1	meckel syndrome, type 7	32.8	NPHP3 MKS1
2	renal dysplasia, cystic	30.0	PKHD1 NPHP3 DNAJB11 CEP290
3	end stage renal disease	29.9	NPHP4 NPHP3 NEK8 INVS DNAJB11
4	caroli disease	29.7	PKHD1 NPHP3 NPHP1 MKS1 INVS
5	juvenile nephronophthisis	29.6	NPHP4 NPHP3 NPHP1 MKKS IQCB1 INVS
6	cakut	29.5	PKHD1 NPHP4 NPHP3 NPHP1 NEK9 NEK8
7	polydactyly	29.1	TMEM216 SDCCAG8 NPHP3 MKS1 MKKS CEP290
8	short-rib thoracic dysplasia 1 with or without polydactyly	28.9	TMEM216 SDCCAG8 OFD1 NPHP1 INVS CEP290
9	ellis-van creveld syndrome	28.8	TMEM216 OFD1 NPHP4 MKKS INVS CEP290
10	situs inversus	28.0	TMEM216 OFD1 NPHP4 NPHP3 NPHP1 NEK9
11	cystic kidney disease	27.6	TMEM216 PKHD1 OFD1 NPHP4 NPHP3 NPHP1
12	autosomal dominant polycystic kidney disease	27.6	PKHD1 OFD1 NPHP4 NPHP3 NPHP1 NEK9
13	cone-rod dystrophy 2	27.3	TOPORS TMEM216 SDCCAG8 OFD1 NPHP4 NPHP3
14	polycystic kidney disease 4 with or without polycystic liver disease	27.2	TMEM216 PKHD1 OFD1 NPHP4 NPHP3 NPHP1
15	asphyxiating thoracic dystrophy	27.2	TMEM216 SDCCAG8 PKHD1 OFD1 NPHP4 NPHP3
16	nephronophthisis	27.1	TMEM216 SDCCAG8 PKHD1 OFD1 NPHP4 NPHP3
17	meckel syndrome, type 1	27.0	TMEM216 SDCCAG8 PKHD1 OFD1 NPHP4 NPHP3
18	visceral heterotaxy	27.0	TMEM216 SDCCAG8 PKHD1 OFD1 NPHP4 NPHP3
19	polycystic kidney disease	26.6	TMEM216 PKHD1 OFD1 NPHP4 NPHP3 NPHP1
20	retinitis pigmentosa	26.2	TOPORS TMEM216 SDCCAG8 PKHD1 OFD1 NPHP4
21	renal-hepatic-pancreatic dysplasia 2	11.9
22	renal-hepatic-pancreatic dysplasia 1	11.7
23	nephronophthisis 3	10.4
24	right atrial isomerism	10.4
25	ciliopathy	10.3
26	renal dysplasia	10.3
27	dextrocardia with situs inversus	10.3
28	retinitis pigmentosa 69	10.3	NPHP4 IQCB1
29	cone-rod dystrophy 13	10.2	NPHP4 IQCB1
30	bardet-biedl syndrome 16	10.2	SDCCAG8 IQCB1
31	joubert syndrome 22	10.2	NPHP3 ARL3
32	joubert syndrome 24	10.2	NPHP1 CEP290
33	multiple acyl-coa dehydrogenase deficiency	10.2
34	cholestasis	10.2
35	tubulointerstitial kidney disease, autosomal dominant, 1	10.2	NPHP4 NPHP3 NPHP1
36	joubert syndrome 21	10.2	SDCCAG8 NPHP4
37	infantile nephronophthisis	10.2	NPHP3 NEK8 INVS
38	oligohydramnios	10.1	PKHD1 NPHP3 NPHP1
39	joubert syndrome 7	10.1	NPHP4 NPHP1
40	polycystic liver disease 1 with or without kidney cysts	10.1	PKHD1 NPHP4 NPHP1
41	nephronophthisis 18	10.1	SDCCAG8 NPHP4 NPHP1
42	macular degeneration, x-linked atrophic	10.1	SDCCAG8 NPHP4 IQCB1
43	nephronophthisis 12	10.1	SDCCAG8 NPHP4 IQCB1
44	leber congenital amaurosis 3	10.1	IQCB1 CEP290
45	nephronophthisis 11	10.1	NPHP4 IQCB1 CEP290
46	leber congenital amaurosis 10	10.1	IQCB1 CEP290
47	encephalocele	10.1	MKS1 CEP290
48	nephronophthisis 1	10.1	NPHP4 NPHP3 NPHP1 INVS
49	progressive cone dystrophy	10.1	MKKS ARL3
50	bardet-biedl syndrome 13	10.1	MKS1 MKKS

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

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Symptoms & Phenotypes for Renal-Hepatic-Pancreatic Dysplasia

GenomeRNAi Phenotypes related to Renal-Hepatic-Pancreatic Dysplasia according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.11	ARL3 CEP290 DNAJB11 INVS IQCB1 MKKS
2	no effect	GR00402-S-2	10.11	ARL3 CEP290 DNAJB11 INVS IQCB1 MKKS

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.22	ARL3 CEP290 INVS IQCB1 MKKS MKS1
2	renal/urinary system	MP:0005367	10.21	ARL3 CEP290 INVS MKS1 NEK8 NEK9
3	nervous system	MP:0003631	10.16	ARL3 CEP290 MKKS MKS1 NPHP1 NPHP3
4	cellular	MP:0005384	10.1	ARL3 CEP290 INVS MKKS MKS1 NEK9
5	cardiovascular system	MP:0005385	10.07	CEP290 DNAJB11 INVS IQCB1 MKKS MKS1
6	craniofacial	MP:0005382	9.85	CEP290 MKKS MKS1 NPHP3 OFD1 SDCCAG8
7	respiratory system	MP:0005388	9.7	CEP290 INVS MKKS MKS1 NEK8 OFD1
8	vision/eye	MP:0005391	9.56	ARL3 CEP290 IQCB1 MKKS MKS1 NPHP1
9	mortality/aging	MP:0010768	9.44	ARL3 CEP290 DNAJB11 INVS IQCB1 MKKS

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Drugs & Therapeutics for Renal-Hepatic-Pancreatic Dysplasia

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

Cochrane evidence based reviews: 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 ²⁸

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Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

Organs/tissues related to Renal-Hepatic-Pancreatic Dysplasia:

MalaCards : Liver, Spleen, Fetal Liver, Pancreas, Heart, Kidney, Colon

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Publications for Renal-Hepatic-Pancreatic Dysplasia

Articles related to Renal-Hepatic-Pancreatic Dysplasia:

(show top 50) (show all 68)

#	Title	Authors	PMID	Year
1	Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature. ⁶²	Zhu H...Wang J	36253741	2022
2	Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia. ⁶²	Jordan P...Heidet L	33129895	2021
3	Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology. ⁶²	Sharma S	32714619	2020
4	Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype. ⁶²	Cagan Appak Y...Kasap Demir B	32341812	2020
5	Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis. ⁶²	Inaguma Y...Tanaka R	30734414	2019
6	Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. ⁶²	Rajagopalan R...Spinner NB	26697755	2016
7	Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. ⁶²	Copelovitch L...Kaplan BS	23686967	2013
8	Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder. ⁶²	Kapur RP...Fligner CL	23438674	2013
9	Congenital pancreatic cyst with Ivemark II syndrome: a rare case. ⁶²	Chahed J...Nouri A	22424375	2012
10	Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. ⁶²	Fiskerstrand T...Knappskog PM	20007846	2010
11	Immunohistochemical study of the phenotypic change of the mesenchymal cells during portal tract maturation in normal and fibrous (ductal plate malformation) fetal liver. ⁶²	Villeneuve J...Lepreux S	19602240	2009
12	Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. ⁶²	Bergmann C...Omran H	18371931	2008
13	Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12. ⁶²	Schrader KA...Langlois S	17593545	2007
14	Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). ⁶²	Vankalakunti M...Das A	17605805	2007
15	[Percutaneous closure of veno-venous fistulae after total cavopulmonary derivation: a case report]. ⁶²	Basquin A...Boudjemline Y	17646778	2007
16	Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study. ⁶²	Chaumoitre K...Avni EF	17094077	2006
17	ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development. ⁶²	Schrick JJ...Rice DS	16565502	2006
18	Renohepaticopancreatic dysplasia: diagnostic dilemma. ⁶²	Fernandez-Sein A...Lugo-Vicente H	15895877	2005
19	Assessment of intracardiac anomalies in two adults with Ivemark's syndrome. ⁶²	Michelakis N...Kort S	15562269	2004
20	Morphological and immunohistochemical analysis of ductal plate malformation: correlation with fetal liver. ⁶²	Awasthi A...Joshi K	15330804	2004
21	Prenatal sonographic appearance of congenital bile duct dilatation associated with renal-hepatic-pancreatic dysplasia. ⁶²	Boopathy Vijayaraghavan S...Raman ML	15170806	2004
22	MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies. ⁶²	Witters I...Fryns JP	11807905	2002
23	Clinical aspects of defects in the determination of laterality. ⁶²	Aylsworth AS	11471158	2001
24	Renal-hepatic-pancreatic dysplasia: a broad entity. ⁶²	White SM...Bowker CM	11186898	2000
25	Ivemark's renal-hepatic-pancreatic dysplasia: analytic approach to a perinatal autopsy. ⁶²	Bendon RW	9841713	1999
26	[Prenatal diagnosis of a pancreatic cyst due to Ivemark II syndrome]. ⁶²	Quemere MP...Schweitzer M	9648013	1998
27	Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure. ⁶²	Neuhaus TJ...Leumann EP	8874114	1996
28	Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. ⁶²	Torra R...Estivill X	8733053	1996
29	Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome? ⁶²	Devriendt K...Eggermont E	8775219	1996
30	Ivemark's syndrome and congenital hearing loss. ⁶²	Karas DE...Clerico DM	8084642	1994
31	Polycystic kidneys in Ivemark's syndrome. ⁶²	Krull F...Luhmer I	1392375	1992
32	Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? ⁶²	Hunter AG...Tawagi FG	1785635	1991
33	[Research of gene(s) involved in situs inversus. Initial results]. ⁶²	Alonso S	1898197	1991
34	Renal-hepatic-pancreatic dysplasia and its variants. ⁶²	Lurie IW...Burakovski IV	1741971	1991
35	Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? ⁶²	Brueton LA...Winter RM	2325105	1990
36	[Prenatal diagnosis of Ivemark's syndrome]. ⁶²	Savenko LA...Kirillova IA	3223550	1988
37	Renal, pancreatic and hepatic dysplasia sequence. ⁶²	Carles D...Gonnet JM	3396599	1988
38	Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. ⁶²	Bernstein J...Wybel RE	3812591	1987
39	Bilateral renal dysplasia accompanied by pancreatic fibrosis, meconium ileus, and situs inversus totalis. ⁶²	Yoshikawa Y...Kato N	7304173	1981
40	[Ivemark's syndrome (author's transl)]. ⁶²	Reuss M...Wilker D	7445649	1980
41	99mTechnetium pyridoxylidene glutamate imaging in visceral heterotaxy (Ivemark's syndrome). ⁶²	Pastakia B...Levy J	488637	1979
42	Dysplasia of the kidneys, liver, and pancreas: report of a variant of Ivemark's syndrome. ⁶²	Strayer DS...Kissane JM	422192	1979
43	[Situs inversus and long-term bronchopneumopathies, existing since the neonatal period]. ⁶²	Monnet P	308794	1978
44	[Familial occurrence of Ivemark's syndrome]. ⁶²	Jojart G...Fekete F	927832	1977
45	Volvulus of the colon in a child with congenital asplenia (Ivemark's syndrome). ⁶²	Markowitz RI...Capitanio MA	834892	1977
46	[Ivemark's syndrome associated with maxillofacial dysostosis]. ⁶²	Vlasiuk VV	997402	1976
47	[Ivemark's syndrome]. ⁶²	Brunelli L...Marra S	1128469	1975
48	[Ivemark's syndrome]. ⁶²	Takashima C	4474497	1974
49	[The diagnostic significance of red blood picture in Ivemark's syndrome (asplenia). 4 cases (author's transl)]. ⁶²	Schwarze EW...Drescher J	4373954	1974
50	Ivemark's syndrome with a normally developed spleen. A case report. ⁶²	Sanchez J...Martinez Pico A	4712797	1973

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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	385.65	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	20007846 18371931
2	NEK8	NIMA Related Kinase 8	Protein Coding	364.37	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	23418306
3	NPHP1	Nephrocystin 1	Protein Coding	6.12	DISEASES inferred ¹⁴
4	NPHP4	Nephrocystin 4	Protein Coding	5.99	DISEASES inferred ¹⁴
5	IQCB1	IQ Motif Containing B1	Protein Coding	5.97	DISEASES inferred ¹⁴
6	DNAJB11	DnaJ Heat Shock Protein Family (Hsp40) Member B11	Protein Coding	5.73	DISEASES inferred ¹⁴
7	PKHD1	PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin	Protein Coding	5.52	DISEASES inferred ¹⁴
8	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	5.46	DISEASES inferred ¹⁴
9	INVS	Inversin	Protein Coding	5.42	DISEASES inferred ¹⁴
10	CEP290	Centrosomal Protein 290	Protein Coding	5.33	DISEASES inferred ¹⁴
11	ARL3	ADP Ribosylation Factor Like GTPase 3	Protein Coding	5.3	DISEASES inferred ¹⁴
12	MKKS	MKKS Centrosomal Shuttling Protein	Protein Coding	5.18	DISEASES inferred ¹⁴
13	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	5.12	DISEASES inferred ¹⁴
14	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	5.08	DISEASES inferred ¹⁴
15	NEK9	NIMA Related Kinase 9	Protein Coding	5.04	DISEASES inferred ¹⁴
16	TMEM216	Transmembrane Protein 216	Protein Coding	4.98	DISEASES inferred ¹⁴
17	TOPORS	TOP1 Binding Arginine/Serine Rich Protein, E3 Ubiquitin Ligase	Protein Coding	4.97	DISEASES inferred ¹⁴

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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	Loss of Nlp from mitotic centrosomes ⁶⁶ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁶ AURKA Activation by TPX2 ⁶⁶ Centrosome maturation ⁶⁶ G2/M Transition ⁶⁶ Interaction between PHLDA1 and AURKA ⁶⁶ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁶ Mitotic G2-G2/M phases ⁶⁶ Polo-like kinase mediated events ⁶⁶ Recruitment of mitotic centrosome proteins and complexes ⁶⁶ Recruitment of NuMA to mitotic centrosomes ⁶⁶ Regulation of PLK1 Activity at G2/M Transition ⁶⁶	12.95	TMEM216 SDCCAG8 OFD1 NPHP4 NPHP1 MKS1
2	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.69	ARL3 CEP290 IQCB1 MKKS MKS1 NPHP1
3	Ciliopathies ⁷⁴	12.05	CEP290 INVS IQCB1 MKS1 NEK8 NEK9
4	Ciliary landscape ⁷⁴	12	NEK8 MKS1 IQCB1 CEP290
5	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.87	ARL3 CEP290 INVS IQCB1 MKKS MKS1
6	Cargo trafficking to the periciliary membrane ⁶⁶ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁶ BBSome-mediated cargo-targeting to cilium ⁶⁶ Trafficking of myristoylated proteins to the cilium ⁶⁶ VxPx cargo-targeting to cilium ⁶⁶	11.59	NPHP3 MKKS ARL3
7	Joubert syndrome ⁷⁴	11.2	ARL3 CEP290 INVS MKS1 NEK8 NPHP1

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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 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.58	TMEM216 SDCCAG8 PKHD1 OFD1 NPHP4 NPHP1
2	centrosome	GO:0005813	10.3	ARL3 CEP290 IQCB1 MKKS MKS1 NEK8
3	centriole	GO:0005814	10.28	CEP290 IQCB1 MKS1 NPHP4 OFD1 SDCCAG8
4	ciliary basal body	GO:0036064	10.28	TOPORS SDCCAG8 PKHD1 OFD1 NPHP4 MKS1
5	photoreceptor connecting cilium	GO:0032391	10.06	TOPORS NPHP4 NPHP1 IQCB1 CEP290 ARL3
6	cytoskeleton	GO:0005856	10.03	ARL3 CEP290 INVS IQCB1 MKKS MKS1
7	ciliary transition zone	GO:0035869	10.02	CEP290 MKS1 NPHP4 TMEM216
8	microtubule organizing center	GO:0005815	10.02	ARL3 CEP290 IQCB1 MKKS MKS1 NEK8
9	ciliary base	GO:0097546	9.99	NPHP4 NPHP3 NEK8
10	MKS complex	GO:0036038	9.97	TMEM216 MKS1 CEP290
11	ciliary inversin compartment	GO:0097543	9.85	NPHP3 NEK8 INVS
12	cell projection	GO:0042995	9.73	TMEM216 SDCCAG8 PKHD1 OFD1 NPHP4 NPHP3
13	cilium	GO:0005929	9.64	ARL3 CEP290 INVS IQCB1 MKS1 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	kidney development	GO:0001822	10.03	ARL3 CEP290 NPHP3 PKHD1
2	determination of left/right symmetry	GO:0007368	9.92	NPHP3 NEK8 MKS1 MKKS
3	photoreceptor cell maintenance	GO:0045494	9.86	IQCB1 MKKS NPHP3 NPHP4
4	non-motile cilium assembly	GO:1905515	9.85	TMEM216 NPHP3 MKS1 MKKS CEP290
5	photoreceptor cell outer segment organization	GO:0035845	9.83	TOPORS NPHP4
6	epithelial cilium movement involved in determination of left/right asymmetry	GO:0060287	9.81	OFD1 NPHP3
7	positive regulation of bicellular tight junction assembly	GO:1903348	9.8	NPHP4 NPHP1
8	regulation of Wnt signaling pathway, planar cell polarity pathway	GO:2000095	9.78	NPHP3 MKS1
9	maintenance of animal organ identity	GO:0048496	9.76	NPHP3 IQCB1
10	visual behavior	GO:0007632	9.71	NPHP4 NPHP1
11	convergent extension involved in gastrulation	GO:0060027	9.67	NPHP3 MKKS
12	cell projection organization	GO:0030030	9.61	CEP290 IQCB1 MKS1 NPHP1 OFD1 SDCCAG8
13	cilium assembly	GO:0060271	9.58	TMEM216 PKHD1 OFD1 NPHP3 MKS1 MKKS

Sources

Sources for Renal-Hepatic-Pancreatic Dysplasia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: RNL059 MIFTS: 37	Renal-Hepatic-Pancreatic Dysplasia Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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