MCID: RNL059
MIFTS: 37

Renal-Hepatic-Pancreatic Dysplasia

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

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

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...

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:



Diseases related to Renal-Hepatic-Pancreatic Dysplasia

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

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

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

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

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

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

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
36253741 2022
2
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia. 62
33129895 2021
3
Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology. 62
32714619 2020
4
Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype. 62
32341812 2020
5
Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis. 62
30734414 2019
6
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. 62
26697755 2016
7
Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. 62
23686967 2013
8
Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder. 62
23438674 2013
9
Congenital pancreatic cyst with Ivemark II syndrome: a rare case. 62
22424375 2012
10
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 62
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
19602240 2009
12
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 62
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
17593545 2007
14
Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). 62
17605805 2007
15
[Percutaneous closure of veno-venous fistulae after total cavopulmonary derivation: a case report]. 62
17646778 2007
16
Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study. 62
17094077 2006
17
ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development. 62
16565502 2006
18
Renohepaticopancreatic dysplasia: diagnostic dilemma. 62
15895877 2005
19
Assessment of intracardiac anomalies in two adults with Ivemark's syndrome. 62
15562269 2004
20
Morphological and immunohistochemical analysis of ductal plate malformation: correlation with fetal liver. 62
15330804 2004
21
Prenatal sonographic appearance of congenital bile duct dilatation associated with renal-hepatic-pancreatic dysplasia. 62
15170806 2004
22
MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies. 62
11807905 2002
23
Clinical aspects of defects in the determination of laterality. 62
11471158 2001
24
Renal-hepatic-pancreatic dysplasia: a broad entity. 62
11186898 2000
25
Ivemark's renal-hepatic-pancreatic dysplasia: analytic approach to a perinatal autopsy. 62
9841713 1999
26
[Prenatal diagnosis of a pancreatic cyst due to Ivemark II syndrome]. 62
9648013 1998
27
Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure. 62
8874114 1996
28
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. 62
8733053 1996
29
Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome? 62
8775219 1996
30
Ivemark's syndrome and congenital hearing loss. 62
8084642 1994
31
Polycystic kidneys in Ivemark's syndrome. 62
1392375 1992
32
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? 62
1785635 1991
33
[Research of gene(s) involved in situs inversus. Initial results]. 62
1898197 1991
34
Renal-hepatic-pancreatic dysplasia and its variants. 62
1741971 1991
35
Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? 62
2325105 1990
36
[Prenatal diagnosis of Ivemark's syndrome]. 62
3223550 1988
37
Renal, pancreatic and hepatic dysplasia sequence. 62
3396599 1988
38
Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. 62
3812591 1987
39
Bilateral renal dysplasia accompanied by pancreatic fibrosis, meconium ileus, and situs inversus totalis. 62
7304173 1981
40
[Ivemark's syndrome (author's transl)]. 62
7445649 1980
41
99mTechnetium pyridoxylidene glutamate imaging in visceral heterotaxy (Ivemark's syndrome). 62
488637 1979
42
Dysplasia of the kidneys, liver, and pancreas: report of a variant of Ivemark's syndrome. 62
422192 1979
43
[Situs inversus and long-term bronchopneumopathies, existing since the neonatal period]. 62
308794 1978
44
[Familial occurrence of Ivemark's syndrome]. 62
927832 1977
45
Volvulus of the colon in a child with congenital asplenia (Ivemark's syndrome). 62
834892 1977
46
[Ivemark's syndrome associated with maxillofacial dysostosis]. 62
997402 1976
47
[Ivemark's syndrome]. 62
1128469 1975
48
[Ivemark's syndrome]. 62
4474497 1974
49
[The diagnostic significance of red blood picture in Ivemark's syndrome (asplenia). 4 cases (author's transl)]. 62
4373954 1974
50
Ivemark's syndrome with a normally developed spleen. A case report. 62
4712797 1973

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 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 for Renal-Hepatic-Pancreatic Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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