MCID: RNL059
MIFTS: 34

Renal-Hepatic-Pancreatic Dysplasia

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases

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:

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

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...

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:



Diseases related to Renal-Hepatic-Pancreatic Dysplasia

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

Drugs & Therapeutics for Renal-Hepatic-Pancreatic Dysplasia

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

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

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

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

40
Liver, Kidney, Pancreas

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
33129895 2021
2
Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology. 61
32714619 2020
3
Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype. 61
32341812 2020
4
Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis. 61
30734414 2019
5
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. 61
26697755 2016
6
Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. 61
23686967 2013
7
Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder. 61
23438674 2013
8
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 61
20007846 2010
9
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 61
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
17593545 2007
11
Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). 61
17605805 2007
12
ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development. 61
16565502 2006
13
Renohepaticopancreatic dysplasia: diagnostic dilemma. 61
15895877 2005
14
Prenatal sonographic appearance of congenital bile duct dilatation associated with renal-hepatic-pancreatic dysplasia. 61
15170806 2004
15
MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies. 61
11807905 2002
16
Clinical aspects of defects in the determination of laterality. 61
11471158 2001
17
Renal-hepatic-pancreatic dysplasia: a broad entity. 61
11186898 2000
18
Ivemark's renal-hepatic-pancreatic dysplasia: analytic approach to a perinatal autopsy. 61
9841713 1999
19
Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure. 61
8874114 1996
20
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. 61
8733053 1996
21
Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome? 61
8775219 1996
22
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? 61
1785635 1991
23
Renal-hepatic-pancreatic dysplasia and its variants. 61
1741971 1991
24
Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? 61
2325105 1990
25
Renal, pancreatic and hepatic dysplasia sequence. 61
3396599 1988
26
Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. 61
3812591 1987

Variations for Renal-Hepatic-Pancreatic Dysplasia

Expression for Renal-Hepatic-Pancreatic Dysplasia

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

Pathways for Renal-Hepatic-Pancreatic Dysplasia

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

Sources for Renal-Hepatic-Pancreatic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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