MCID: RNL059
MIFTS: 35

Renal-Hepatic-Pancreatic Dysplasia malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases, Cardiovascular 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 53 26 12 13 67
Asplenia Syndrome 47 26 67
Bilateral Right-Sidedness Sequence 47 26
Asplenia with Cardiovascular Anomalies 47
Renohepaticopancreatic Dysplasia 53
 
Splenic Agenesis Syndrome 47
Ivemark Ii Syndrome 53
Ivemark's Syndrome 11
Ivemark Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
renal-hepatic-pancreatic dysplasia:
Inheritance: Autosomal recessive

Classifications:



External Ids:

Disease Ontology11 DOID:0060259
Orphanet53 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 asplenia syndrome, 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). Related mouse phenotypes are digestive/alimentary and liver/biliary system.

Wikipedia:70 Renal-hepatic-pancreatic dysplasia is an autosomal recessive congenital disorder characterized by... more...

Related Diseases for Renal-Hepatic-Pancreatic Dysplasia

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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 35)
idRelated DiseaseScoreTop Affiliating Genes
1renal-hepatic-pancreatic dysplasia 212.6
2renal-hepatic-pancreatic dysplasia 112.5
3right atrial isomerism11.5
4meckel syndrome 711.4
5heterotaxy11.3
6asplenia, isolated congenital11.0
7atrioventricular septal defect 410.8
8heinz body anemia10.8
9atrioventricular septal defect 510.8
10panic disorder 210.5INVS, NEK8
11hepatitis10.5
12pancreatitis10.5
13carbohydrate metabolic disorder10.4INVS, NEK8, NPHP3
14senior-loken syndrome-110.3INVS, IQCB1, NPHP3
15crest syndrome10.3INVS, NPHP3
16mirage syndrome10.2JAG1, NOTCH2
17epileptic encephalopathy, early infantile, 1410.2ARL3, INVS, IQCB1
18papilloma10.2ETFA, KRT7
19perineocele10.1PKHD1, RET
20necrotizing ulcerative gingivitis10.1JAG1, RET
21primary hypertrophic osteoarthropathy10.1JAG1, RET
22food allergy10.1KRT7, NODAL
23hajdu-cheney syndrome10.0JAG1, NOTCH2
24bladder calculus9.9KRT7, RET
25telangiectasis9.9INVS, IQCB1, NEK8, NPHP3, PKHD1
26ellis-van creveld syndrome9.9
27testicular trophoblastic tumor9.8JAG1, PKHD1
28prostate colloid adenocarcinoma9.8CALD1, KRT7
29adult central nervous system choriocarcinoma9.8CALD1, KRT7
30cervix endometriosis9.7KRT7, NODAL, RET
31fragile x-associated tremor/ataxia syndrome9.7ETFA, INVS, JAG1, NPHP3, PKHD1
32lacrimal passage granuloma9.7CALD1, KRT7
33mucinous adenofibroma9.5CALD1, KRT7
34scar contracture9.4ARL3, INVS, IQCB1, NPHP3, RCC1
35gallbladder disease5.9ARL3, CALD1, ETFA, INVS, IQCB1, JAG1

Graphical network of the top 20 diseases related to Renal-Hepatic-Pancreatic Dysplasia:



Diseases related to renal-hepatic-pancreatic dysplasia

Symptoms for Renal-Hepatic-Pancreatic Dysplasia

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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 Dysplasia26 24 NPHP3
2 Bilateral Right-Sidedness Sequence26
3 Asplenia26

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

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Animal Models for Renal-Hepatic-Pancreatic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Renal-Hepatic-Pancreatic Dysplasia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.0INVS, JAG1, NODAL, NOTCH2, PKHD1, RET
2MP:00053708.8ARL3, INVS, JAG1, NODAL, NOTCH2, PKHD1
3MP:00053798.8ARL3, INVS, JAG1, NOTCH2, PKHD1, RBP1
4MP:00053858.6INVS, JAG1, NEK8, NODAL, NOTCH2, NPHP3
5MP:00053878.6ARL3, INVS, NODAL, NOTCH2, NPHP3, PKHD1
6MP:00053978.4INVS, JAG1, NODAL, NOTCH2, NPHP3, PKHD1
7MP:00053888.4INVS, NEK8, NODAL, NOTCH2, PKHD1, RET
8MP:00053678.0ARL3, INVS, JAG1, KRT7, NEK8, NOTCH2
9MP:00053787.9ARL3, INVS, JAG1, NEK8, NODAL, NOTCH2

Publications for Renal-Hepatic-Pancreatic Dysplasia

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Articles related to Renal-Hepatic-Pancreatic Dysplasia:

(show all 16)
idTitleAuthorsYear
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 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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Clinvar genetic disease variations for Renal-Hepatic-Pancreatic Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NPHP3NM_153240.4(NPHP3): c.2694-2_2694-1delAGdeletionPathogenicrs751527253GRCh37Chr 3, 132408108: 132408109
2NPHP3NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter)SNVPathogenicrs119456962GRCh37Chr 3, 132419192: 132419192
3NPHP3NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter)SNVPathogenicrs368138001GRCh37Chr 3, 132403595: 132403595

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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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 inversin compartmentGO:009754310.6NEK8, NPHP3
2ciliary baseGO:009754610.3NEK8, NPHP3
3photoreceptor connecting ciliumGO:003239110.3ARL3, IQCB1
4ciliumGO:00059299.7INVS, NEK8, NPHP3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1maintenance of animal organ identityGO:004849610.5IQCB1, NPHP3
2pulmonary valve morphogenesisGO:000318410.2JAG1, NOTCH2
3kidney developmentGO:000182210.1ARL3, NPHP3, PKHD1
4photoreceptor cell maintenanceGO:004549410.0IQCB1, NPHP3
5cell fate determinationGO:000170910.0JAG1, NOTCH2
6Notch signaling involved in heart developmentGO:00613149.9JAG1, NOTCH2
7animal organ morphogenesisGO:00098879.8JAG1, NEK8, NOTCH2
8determination of left/right symmetryGO:00073689.5NEK8, NODAL, NPHP3
9nervous system developmentGO:00073998.7JAG1, NODAL, NOTCH2, RET

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

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:00048729.9NOTCH2, PKHD1, RET
2calmodulin bindingGO:00055169.6CALD1, INVS, IQCB1
3protein bindingGO:00055154.8ARL3, CALD1, ETFA, INVS, IQCB1, JAG1

Sources for Renal-Hepatic-Pancreatic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet