MCID: RNL059
MIFTS: 34

Renal-Hepatic-Pancreatic Dysplasia malady

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

Aliases & Classifications for Renal-Hepatic-Pancreatic Dysplasia

Aliases & Descriptions for Renal-Hepatic-Pancreatic Dysplasia:

Name: Renal-Hepatic-Pancreatic Dysplasia 12 24 56 29 13 14 69
Renohepaticopancreatic Dysplasia 56
Ivemark Ii Syndrome 56
Ivemark's Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
renal-hepatic-pancreatic dysplasia
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060259
Orphanet 56 ORPHA294415

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. Related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 71 Renal-hepatic-pancreatic dysplasia is an autosomal recessive congenital disorder characterized by... more...

Related Diseases for Renal-Hepatic-Pancreatic Dysplasia

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.01 PKHD1 RET INVS JAG1 NEK8 NODAL
2 growth/size/body region MP:0005378 9.96 ARL3 INVS JAG1 NEK8 NODAL NOTCH2
3 endocrine/exocrine gland MP:0005379 9.87 ARL3 INVS JAG1 NOTCH2 PKHD1 RBP1
4 digestive/alimentary MP:0005381 9.85 INVS JAG1 NODAL NOTCH2 PKHD1 RET
5 liver/biliary system MP:0005370 9.7 ARL3 INVS JAG1 NODAL NOTCH2 PKHD1
6 renal/urinary system MP:0005367 9.61 NEK8 NOTCH2 NPHP3 PKHD1 RET ARL3
7 respiratory system MP:0005388 9.1 INVS NEK8 NODAL NOTCH2 PKHD1 RET

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:

id Genetic test Affiliating Genes
1 Renal-Hepatic-Pancreatic Dysplasia 29 24 NPHP3

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

Publications for Renal-Hepatic-Pancreatic Dysplasia

Articles related to Renal-Hepatic-Pancreatic Dysplasia:

(show all 16)
id 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 syndrome (Ivemark's syndrome). ( 17605805 )
2007
6
Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12. ( 17593545 )
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
Renal-hepatic-pancreatic dysplasia and its variants. ( 1741971 )
1991
14
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? ( 1785635 )
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
id 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.2918G> A (p.Arg973Gln) single nucleotide variant Pathogenic rs119456963 GRCh37 Chromosome 3, 132407701: 132407701
3 NPHP3 NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter) single nucleotide variant Pathogenic rs119456964 GRCh37 Chromosome 3, 132403628: 132403628
4 NPHP3 NPHP3, IVS13DS, G-A, +5 single nucleotide variant Pathogenic
5 NPHP3 NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter) single nucleotide variant Pathogenic rs368138001 GRCh37 Chromosome 3, 132403595: 132403595
6 NPHP3 NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs) deletion Pathogenic rs758558609 GRCh37 Chromosome 3, 132440927: 132440927
7 NPHP3 NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs) deletion Pathogenic rs763300393 GRCh37 Chromosome 3, 132438631: 132438634
8 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.65 ARL3 INVS NEK8 NPHP3 PKHD1
2 cytoskeleton GO:0005856 9.63 ARL3 CALD1 INVS IQCB1 NEK8 PKHD1
3 spindle GO:0005819 9.54 ARL3 INVS PKHD1
4 cilium GO:0005929 9.35 ARL3 INVS NEK8 NPHP3 PKHD1
5 ciliary base GO:0097546 9.32 NEK8 NPHP3
6 ciliary inversin compartment GO:0097543 8.62 NEK8 NPHP3

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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