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

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Aliases & Descriptions for Renal-Hepatic-Pancreatic Dysplasia:

Name: Renal-Hepatic-Pancreatic Dysplasia 11 24 54 27 12 13 68
Renohepaticopancreatic Dysplasia 54
 
Ivemark Ii Syndrome 54
Ivemark's Syndrome 11

Characteristics:

Orphanet epidemiological data:

54
renal-hepatic-pancreatic dysplasia:
Inheritance: Autosomal recessive

Classifications:



External Ids:

Disease Ontology11 DOID:0060259
Orphanet54 ORPHA294415

Summaries for Renal-Hepatic-Pancreatic Dysplasia

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Disease Ontology:11 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 is Canonical and Non-canonical Notch signaling. Related mouse phenotypes are digestive/alimentary and liver/biliary system.

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

Related Diseases for Renal-Hepatic-Pancreatic Dysplasia

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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

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MGI Mouse Phenotypes related to Renal-Hepatic-Pancreatic Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.2INVS, JAG1, NODAL, NOTCH2, PKHD1, RET
2MP:00053709.0ARL3, INVS, JAG1, NODAL, NOTCH2, PKHD1
3MP:00053799.0ARL3, INVS, JAG1, NOTCH2, PKHD1, RBP1
4MP:00053858.8INVS, JAG1, NEK8, NODAL, NOTCH2, NPHP3
5MP:00053888.6INVS, NEK8, NODAL, NOTCH2, PKHD1, RET
6MP:00053678.2ARL3, INVS, JAG1, KRT7, NEK8, NOTCH2
7MP:00053788.1ARL3, INVS, JAG1, NEK8, NODAL, NOTCH2

Drugs & Therapeutics for Renal-Hepatic-Pancreatic Dysplasia

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Interventional clinical trials:

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

Genetic Tests for Renal-Hepatic-Pancreatic Dysplasia

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Genetic tests related to Renal-Hepatic-Pancreatic Dysplasia:

id Genetic test Affiliating Genes
1 Renal-Hepatic-Pancreatic Dysplasia27 24 NPHP3

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

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Publications for Renal-Hepatic-Pancreatic Dysplasia

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Articles related to Renal-Hepatic-Pancreatic Dysplasia:

(show all 16)
idTitleAuthorsYear
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

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Expression for genes affiliated with Renal-Hepatic-Pancreatic Dysplasia

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

Pathways for genes affiliated with Renal-Hepatic-Pancreatic Dysplasia

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

idSuper pathwaysScoreTop Affiliating Genes
19.7JAG1, NOTCH2

GO Terms for genes affiliated with Renal-Hepatic-Pancreatic Dysplasia

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Cellular components related to Renal-Hepatic-Pancreatic Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ciliary baseGO:009754610.8NEK8, NPHP3
2ciliary inversin compartmentGO:009754310.8NEK8, NPHP3
3cell projectionGO:004299510.0ARL3, INVS, NEK8, NPHP3, PKHD1
4ciliumGO:000592910.0ARL3, INVS, NEK8, NPHP3, PKHD1
5spindleGO:00058199.7ARL3, INVS, PKHD1
6cytoskeletonGO:00058569.0ARL3, CALD1, INVS, IQCB1, NEK8, PKHD1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cell fate determinationGO:000170910.4JAG1, NOTCH2
2maintenance of animal organ identityGO:004849610.3IQCB1, NPHP3
3determination of left/right symmetryGO:000736810.2NEK8, NODAL, NPHP3
4animal organ morphogenesisGO:000988710.1JAG1, NEK8, NOTCH2
5kidney developmentGO:000182210.1ARL3, NPHP3, PKHD1
6cilium assemblyGO:006027110.0ARL3, IQCB1, NPHP3, PKHD1
7Notch signaling involved in heart developmentGO:006131410.0JAG1, NOTCH2
8pulmonary valve morphogenesisGO:00031849.7JAG1, NOTCH2

Sources for Renal-Hepatic-Pancreatic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet