MCID: RNL059
MIFTS: 32

Renal-Hepatic-Pancreatic Dysplasia

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

Aliases & Classifications for Renal-Hepatic-Pancreatic Dysplasia

MalaCards integrated aliases for Renal-Hepatic-Pancreatic Dysplasia:

Name: Renal-Hepatic-Pancreatic Dysplasia 12 59 37 29 13 6 15 73
Renohepaticopancreatic Dysplasia 59
Ivemark Ii Syndrome 59
Ivemark's Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
renal-hepatic-pancreatic dysplasia
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060259
Orphanet 59 ORPHA294415
UMLS via Orphanet 74 C2673883
KEGG 37 H00543
UMLS 73 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 meckel syndrome, type 7 and renal-hepatic-pancreatic dysplasia 2. 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 growth/size/body region and liver/biliary system

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 34)
# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 7 33.7 NPHP3 NPHP3-ACAD11
2 renal-hepatic-pancreatic dysplasia 2 12.7
3 renal-hepatic-pancreatic dysplasia 1 12.6
4 nephronophthisis 3 10.8 NPHP3 NPHP3-ACAD11
5 senior-løken syndrome 10.7 IQCB1 NPHP3
6 nephronophthisis 2 10.7 INVS NPHP3
7 infantile nephronophthisis 10.6 INVS NEK8 NPHP3
8 pancreatitis 10.5
9 hepatitis 10.5
10 juvenile nephronophthisis 10.5 INVS IQCB1 NPHP3
11 nephronophthisis 1 10.5 INVS NPHP3
12 senior-loken syndrome 1 10.5 INVS IQCB1 NPHP3
13 cystic kidney disease 10.3 INVS NEK8 NPHP3 PKHD1
14 transverse colon cancer 10.2 ETFA KRT7
15 polycystic kidney disease 4 with or without polycystic liver disease 10.1 NEK8 PKDREJ PKHD1
16 nodular regenerative hyperplasia 10.1 JAG1 NOTCH2
17 leber congenital amaurosis 10.0 IQCB1 NPHP3 NPHP3-ACAD11 RBP1
18 cleft palate, isolated 9.9
19 short-rib thoracic dysplasia 1 with or without polydactyly 9.9
20 ellis-van creveld syndrome 9.9
21 situs inversus 9.9
22 cervical adenoma malignum 9.9 CALD1 KRT7
23 joubert syndrome 1 9.9 ARL3 INVS IQCB1
24 congenital pancreatic cyst 9.8
25 cervical mucinous adenocarcinoma 9.8 CALD1 KRT7
26 hajdu-cheney syndrome 9.7 JAG1 NOTCH2 PKDREJ
27 visceral heterotaxy 9.7 INVS NODAL NPHP3 PKDREJ
28 nephronophthisis 9.7 INVS IQCB1 NEK8 NPHP3 NPHP3-ACAD11 PKHD1
29 pseudopapilledema 9.6 JAG1 RET
30 urethral diverticulum 9.6 KRT7 PKDREJ
31 ovarian germ cell teratoma 9.5 KRT7 RET
32 ovarian germ cell cancer 9.5 KRT7 RET
33 autosomal genetic disease 9.4 PKDREJ PKHD1 RET
34 shoulder impingement syndrome 9.1 JAG1 RET

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 growth/size/body region MP:0005378 9.85 ARL3 INVS JAG1 NEK8 NODAL NOTCH2
2 liver/biliary system MP:0005370 9.5 ARL3 INVS JAG1 NODAL NOTCH2 PKHD1
3 renal/urinary system MP:0005367 9.28 ARL3 INVS JAG1 KRT7 NEK8 NOTCH2

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 NPHP3

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

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

41
Liver

Publications for Renal-Hepatic-Pancreatic Dysplasia

Articles related to Renal-Hepatic-Pancreatic Dysplasia:

(show all 16)
# Title Authors Year
1
Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. ( 23686967 )
2013
2
Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder. ( 23438674 )
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 disorder with renal and hepatic failure. ( 8874114 )
1996
12
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. ( 8733053 )
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
(show top 50) (show all 139)
# 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.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs119456962 GRCh38 Chromosome 3, 132700348: 132700348
3 NPHP3 NM_153240.4(NPHP3): c.2918G> A (p.Arg973Gln) single nucleotide variant Pathogenic rs119456963 GRCh37 Chromosome 3, 132407701: 132407701
4 NPHP3 NM_153240.4(NPHP3): c.2918G> A (p.Arg973Gln) single nucleotide variant Pathogenic rs119456963 GRCh38 Chromosome 3, 132688857: 132688857
5 NPHP3 NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter) single nucleotide variant Pathogenic rs119456964 GRCh37 Chromosome 3, 132403628: 132403628
6 NPHP3 NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter) single nucleotide variant Pathogenic rs119456964 GRCh38 Chromosome 3, 132684784: 132684784
7 NPHP3 NPHP3, IVS13DS, G-A, +5 single nucleotide variant Pathogenic
8 NPHP3 NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro) single nucleotide variant Likely pathogenic rs398124546 GRCh37 Chromosome 3, 132411604: 132411604
9 NPHP3 NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro) single nucleotide variant Likely pathogenic rs398124546 GRCh38 Chromosome 3, 132692760: 132692760
10 NPHP3 NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter) single nucleotide variant Pathogenic rs368138001 GRCh37 Chromosome 3, 132403595: 132403595
11 NPHP3 NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter) single nucleotide variant Pathogenic rs368138001 GRCh38 Chromosome 3, 132684751: 132684751
12 NPHP3 NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs34391943 GRCh37 Chromosome 3, 132403418: 132403418
13 NPHP3 NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs34391943 GRCh38 Chromosome 3, 132684574: 132684574
14 NPHP3 NM_153240.4(NPHP3): c.57G> C (p.Thr19=) single nucleotide variant Conflicting interpretations of pathogenicity rs192633696 GRCh37 Chromosome 3, 132441143: 132441143
15 NPHP3 NM_153240.4(NPHP3): c.57G> C (p.Thr19=) single nucleotide variant Conflicting interpretations of pathogenicity rs192633696 GRCh38 Chromosome 3, 132722299: 132722299
16 NPHP3 NM_153240.4(NPHP3): c.450G> A (p.Ala150=) single nucleotide variant Benign/Likely benign rs78527322 GRCh37 Chromosome 3, 132438618: 132438618
17 NPHP3 NM_153240.4(NPHP3): c.450G> A (p.Ala150=) single nucleotide variant Benign/Likely benign rs78527322 GRCh38 Chromosome 3, 132719774: 132719774
18 NPHP3 NM_153240.4(NPHP3): c.105G> A (p.Lys35=) single nucleotide variant Conflicting interpretations of pathogenicity rs377060857 GRCh37 Chromosome 3, 132441095: 132441095
19 NPHP3 NM_153240.4(NPHP3): c.105G> A (p.Lys35=) single nucleotide variant Conflicting interpretations of pathogenicity rs377060857 GRCh38 Chromosome 3, 132722251: 132722251
20 NPHP3 NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs) deletion Pathogenic rs758558609 GRCh37 Chromosome 3, 132440927: 132440927
21 NPHP3 NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs) deletion Pathogenic rs758558609 GRCh38 Chromosome 3, 132722083: 132722083
22 NPHP3 NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs) deletion Pathogenic rs763300393 GRCh37 Chromosome 3, 132438631: 132438634
23 NPHP3 NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs) deletion Pathogenic rs763300393 GRCh38 Chromosome 3, 132719787: 132719790
24 NPHP3 NM_153240.4(NPHP3): c.864T> A (p.Thr288=) single nucleotide variant Benign/Likely benign rs147932449 GRCh37 Chromosome 3, 132434022: 132434022
25 NPHP3 NM_153240.4(NPHP3): c.864T> A (p.Thr288=) single nucleotide variant Benign/Likely benign rs147932449 GRCh38 Chromosome 3, 132715178: 132715178
26 NPHP3 NM_153240.4(NPHP3): c.3913C> T (p.Arg1305Cys) single nucleotide variant Benign/Likely benign rs35485382 GRCh37 Chromosome 3, 132400834: 132400834
27 NPHP3 NM_153240.4(NPHP3): c.3913C> T (p.Arg1305Cys) single nucleotide variant Benign/Likely benign rs35485382 GRCh38 Chromosome 3, 132681990: 132681990
28 NPHP3 NM_153240.4(NPHP3): c.3763C> T (p.Arg1255Trp) single nucleotide variant Uncertain significance rs146054765 GRCh38 Chromosome 3, 132682752: 132682752
29 NPHP3 NM_153240.4(NPHP3): c.3763C> T (p.Arg1255Trp) single nucleotide variant Uncertain significance rs146054765 GRCh37 Chromosome 3, 132401596: 132401596
30 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh38 Chromosome 3, 132689264: 132689265
31 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh37 Chromosome 3, 132408108: 132408109
32 NPHP3 NM_153240.4(NPHP3): c.3759G> A (p.Leu1253=) single nucleotide variant Benign rs6794496 GRCh37 Chromosome 3, 132401600: 132401600
33 NPHP3 NM_153240.4(NPHP3): c.3759G> A (p.Leu1253=) single nucleotide variant Benign rs6794496 GRCh38 Chromosome 3, 132682756: 132682756
34 NPHP3 NM_153240.4(NPHP3): c.3125+12dupT duplication Benign rs11396595 GRCh37 Chromosome 3, 132407482: 132407482
35 NPHP3 NM_153240.4(NPHP3): c.3125+12dupT duplication Benign rs11396595 GRCh38 Chromosome 3, 132688638: 132688638
36 NPHP3 NM_153240.4(NPHP3): c.670+13C> T single nucleotide variant Uncertain significance rs202228115 GRCh38 Chromosome 3, 132718981: 132718981
37 NPHP3 NM_153240.4(NPHP3): c.670+13C> T single nucleotide variant Uncertain significance rs202228115 GRCh37 Chromosome 3, 132437825: 132437825
38 NPHP3 NM_153240.4(NPHP3): c.189G> C (p.Gly63=) single nucleotide variant Uncertain significance rs750280281 GRCh37 Chromosome 3, 132441011: 132441011
39 NPHP3 NM_153240.4(NPHP3): c.189G> C (p.Gly63=) single nucleotide variant Uncertain significance rs750280281 GRCh38 Chromosome 3, 132722167: 132722167
40 NPHP3 NM_153240.4(NPHP3): c.408G> A (p.Thr136=) single nucleotide variant Conflicting interpretations of pathogenicity rs141410951 GRCh37 Chromosome 3, 132438660: 132438660
41 NPHP3 NM_153240.4(NPHP3): c.408G> A (p.Thr136=) single nucleotide variant Conflicting interpretations of pathogenicity rs141410951 GRCh38 Chromosome 3, 132719816: 132719816
42 NPHP3 NM_153240.4(NPHP3): c.1525-5delT deletion Conflicting interpretations of pathogenicity rs769466015 GRCh37 Chromosome 3, 132420382: 132420382
43 NPHP3 NM_153240.4(NPHP3): c.1525-5delT deletion Conflicting interpretations of pathogenicity rs769466015 GRCh38 Chromosome 3, 132701538: 132701538
44 NPHP3 NM_153240.4(NPHP3): c.2769C> T (p.Phe923=) single nucleotide variant Conflicting interpretations of pathogenicity rs116174472 GRCh37 Chromosome 3, 132408032: 132408032
45 NPHP3 NM_153240.4(NPHP3): c.2769C> T (p.Phe923=) single nucleotide variant Conflicting interpretations of pathogenicity rs116174472 GRCh38 Chromosome 3, 132689188: 132689188
46 NPHP3 NM_153240.4(NPHP3): c.233G> T (p.Gly78Val) single nucleotide variant Uncertain significance rs202142404 GRCh37 Chromosome 3, 132440967: 132440967
47 NPHP3 NM_153240.4(NPHP3): c.233G> T (p.Gly78Val) single nucleotide variant Uncertain significance rs202142404 GRCh38 Chromosome 3, 132722123: 132722123
48 NPHP3 NM_153240.4(NPHP3): c.*1213T> C single nucleotide variant Uncertain significance rs886057994 GRCh38 Chromosome 3, 132680697: 132680697
49 NPHP3 NM_153240.4(NPHP3): c.*1213T> C single nucleotide variant Uncertain significance rs886057994 GRCh37 Chromosome 3, 132399541: 132399541
50 NPHP3 NM_153240.4(NPHP3): c.*1121A> G single nucleotide variant Uncertain significance rs576904017 GRCh38 Chromosome 3, 132680789: 132680789

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 cytoskeleton GO:0005856 9.43 ARL3 CALD1 INVS IQCB1 NEK8 PKHD1
2 cilium GO:0005929 9.02 ARL3 INVS NEK8 NPHP3 PKHD1

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 determination of left/right symmetry GO:0007368 9.43 NEK8 NODAL NPHP3
4 cell fate determination GO:0001709 9.4 JAG1 NOTCH2
5 pulmonary valve morphogenesis GO:0003184 9.32 JAG1 NOTCH2
6 cilium assembly GO:0060271 9.26 ARL3 IQCB1 NPHP3 PKHD1
7 Notch signaling involved in heart development GO:0061314 9.16 JAG1 NOTCH2
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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