MCID: RNL059
MIFTS: 34

Renal-Hepatic-Pancreatic Dysplasia

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

Aliases & Classifications for Renal-Hepatic-Pancreatic Dysplasia

MalaCards integrated aliases for Renal-Hepatic-Pancreatic Dysplasia:

Name: Renal-Hepatic-Pancreatic Dysplasia 12 55 36 28 13 14 69
Renohepaticopancreatic Dysplasia 55
Ivemark Ii Syndrome 55
Ivemark's Syndrome 12

Characteristics:

Orphanet epidemiological data:

55
renal-hepatic-pancreatic dysplasia
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060259
Orphanet 55 ORPHA294415
UMLS via Orphanet 70 C2673883
KEGG 36 H00543
UMLS 69 C2673883

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 renal-hepatic-pancreatic dysplasia 2 and renal-hepatic-pancreatic dysplasia 1. 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 cardiovascular system and growth/size/body region

Wikipedia : 72 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 all 37)
# Related Disease Score Top Affiliating Genes
1 renal-hepatic-pancreatic dysplasia 2 12.7
2 renal-hepatic-pancreatic dysplasia 1 12.6
3 meckel syndrome, type 7 11.7
4 hepatitis 10.5
5 pancreatitis 10.5
6 nephronophthisis 2 10.5 INVS NPHP3
7 senior-løken syndrome 10.5 IQCB1 NPHP3
8 nephronophthisis 16 10.4 INVS NEK8
9 nephronophthisis 1 10.4 INVS NPHP3
10 senior-loken syndrome 1 10.3 INVS IQCB1 NPHP3
11 transverse colon cancer 10.2 ETFA KRT7
12 nodular regenerative hyperplasia 10.2 JAG1 NOTCH2
13 cystic kidney disease 10.2 INVS NEK8 NPHP3 PKHD1
14 polycystic kidney disease 4 with or without hepatic disease 10.1 NEK8 PKDREJ PKHD1
15 cecal benign neoplasm 10.1 KRT7 NODAL
16 joubert syndrome 1 10.1 ARL3 INVS IQCB1
17 cervical adenoma malignum 10.1 CALD1 KRT7
18 cervical mucinous adenocarcinoma 10.0 CALD1 KRT7
19 pseudopapilledema 10.0 JAG1 RET
20 cecum adenocarcinoma 10.0 KRT7 NODAL
21 urethral diverticulum 10.0 KRT7 PKDREJ
22 ovarian germ cell teratoma 10.0 KRT7 RET
23 nephronophthisis 10.0 INVS IQCB1 NEK8 NPHP3 PKHD1
24 hajdu-cheney syndrome 10.0 JAG1 NOTCH2 PKDREJ
25 ovarian germ cell cancer 10.0 KRT7 RET
26 alagille syndrome 1 10.0 JAG1 NOTCH2
27 cleft palate, isolated 9.9
28 short-rib thoracic dysplasia 1 with or without polydactyly 9.9
29 ellis-van creveld syndrome 9.9
30 nephronophthisis 3 9.9
31 situs inversus 9.9
32 visceral heterotaxy 9.9 INVS NODAL NPHP3 PKDREJ
33 shoulder impingement syndrome 9.9 JAG1 RET
34 autosomal genetic disease 9.8 PKDREJ PKHD1 RET
35 carotid artery dissection 9.8 PKDREJ RET
36 appendix adenocarcinoma 9.7 KRT7 NODAL RET
37 nephrogenic adenofibroma 9.6 CALD1 KRT7

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 INVS JAG1 NEK8 NODAL NOTCH2 NPHP3
2 growth/size/body region MP:0005378 9.96 ARL3 INVS JAG1 NEK8 NODAL NOTCH2
3 digestive/alimentary MP:0005381 9.8 INVS JAG1 NODAL NOTCH2 PKHD1 RET
4 liver/biliary system MP:0005370 9.7 ARL3 INVS JAG1 NODAL NOTCH2 PKHD1
5 renal/urinary system MP:0005367 9.61 NPHP3 PKHD1 RET ARL3 INVS JAG1
6 respiratory system MP:0005388 9.1 NEK8 NODAL NOTCH2 PKHD1 RET INVS

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 28 NPHP3

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

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

38
Liver

Publications for Renal-Hepatic-Pancreatic Dysplasia

Articles related to Renal-Hepatic-Pancreatic Dysplasia:

(show all 16)
# Title Authors Year
1
Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder. ( 23438674 )
2013
2
Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. ( 23686967 )
2013
3
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. ( 20007846 )
2010
4
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic- pancreatic dysplasia. ( 18371931 )
2008
5
Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12. ( 17593545 )
2007
6
Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). ( 17605805 )
2007
7
Prenatal sonographic appearance of congenital bile duct dilatation associated with renal-hepatic-pancreatic dysplasia. ( 15170806 )
2004
8
MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and MA1llerian duct anomalies. ( 11807905 )
2002
9
Renal-hepatic-pancreatic dysplasia: a broad entity. ( 11186898 )
2000
10
Ivemark's renal-hepatic-pancreatic dysplasia: analytic approach to a perinatal autopsy. ( 9841713 )
1999
11
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. ( 8733053 )
1996
12
Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure. ( 8874114 )
1996
13
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? ( 1785635 )
1991
14
Renal-hepatic-pancreatic dysplasia and its variants. ( 1741971 )
1991
15
Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? ( 2325105 )
1990
16
Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. ( 3812591 )
1987

Variations for Renal-Hepatic-Pancreatic Dysplasia

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP3 NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro) single nucleotide variant Likely pathogenic rs398124546 GRCh37 Chromosome 3, 132411604: 132411604
2 NPHP3 NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter) single nucleotide variant Pathogenic rs368138001 GRCh37 Chromosome 3, 132403595: 132403595
3 NPHP3 NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs) deletion Pathogenic rs758558609 GRCh37 Chromosome 3, 132440927: 132440927
4 NPHP3 NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs) deletion Pathogenic rs763300393 GRCh37 Chromosome 3, 132438631: 132438634
5 NPHP3 NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs119456962 GRCh37 Chromosome 3, 132419192: 132419192
6 NPHP3 NM_153240.4(NPHP3): c.2918G> A (p.Arg973Gln) single nucleotide variant Pathogenic rs119456963 GRCh37 Chromosome 3, 132407701: 132407701
7 NPHP3 NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter) single nucleotide variant Pathogenic rs119456964 GRCh37 Chromosome 3, 132403628: 132403628
8 NPHP3 NPHP3, IVS13DS, G-A, +5 single nucleotide variant Pathogenic
9 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh38 Chromosome 3, 132689264: 132689265

Expression for Renal-Hepatic-Pancreatic Dysplasia

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

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 10.05 JAG1 NOTCH2

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 cell projection GO:0042995 9.72 ARL3 INVS NEK8 NPHP3 PKHD1
2 cytoskeleton GO:0005856 9.63 ARL3 CALD1 INVS IQCB1 NEK8 PKHD1
3 cilium GO:0005929 9.35 ARL3 INVS NEK8 NPHP3 PKHD1
4 ciliary base GO:0097546 9.26 NEK8 NPHP3
5 ciliary inversin compartment GO:0097543 8.62 NEK8 NPHP3

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 cell fate determination GO:0001709 9.4 JAG1 NOTCH2
4 determination of left/right symmetry GO:0007368 9.33 NEK8 NODAL NPHP3
5 pulmonary valve morphogenesis GO:0003184 9.32 JAG1 NOTCH2
6 Notch signaling involved in heart development GO:0061314 9.26 JAG1 NOTCH2
7 cilium assembly GO:0060271 9.26 ARL3 IQCB1 NPHP3 PKHD1
8 maintenance of animal organ identity GO:0048496 8.62 IQCB1 NPHP3

Sources for Renal-Hepatic-Pancreatic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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