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 54 27 12 13 68
Asplenia Syndrome 48 27 68
Bilateral Right-Sidedness Sequence 48 27
Asplenia with Cardiovascular Anomalies 48
Renohepaticopancreatic Dysplasia 54
 
Splenic Agenesis Syndrome 48
Ivemark Ii Syndrome 54
Ivemark's Syndrome 11
Ivemark Syndrome 48

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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NIH Rare Diseases:48 Ivemark syndrome is a rare congenital condition that affects multiple organ systems of the body. Ivemark syndrome is classified as a heterotaxy disorder or a laterality disorder. These terms refer to the failure of the internal organs of the chest and abdomen to be arranged in the proper location within the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, heart malformations, and the abnormal arrangement of the internal organs of the chest and abdomen. Symptoms vary greatly depending on the specific abnormalities present; however if heart malformations are complex, the prognosis is often poor. The exact cause of Ivemark syndrome is not known. Most cases are sporadic (isolated and seemingly random). Unlike some other heterotaxy disorders, causative gene mutations have not been identified. There is no cure for Ivemark syndrome. Treatment might include surgical repair of heart malformations when appropriate and prophylactic antibiotic therapy to reduce the incidence of infection due to the absence or poor function of the spleen. Last updated: 2/23/2016

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.

Disease Ontology:11 A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.

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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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 & 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:00053819.0INVS, 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

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
2 Bilateral Right-Sidedness Sequence27
3 Asplenia27

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
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 baseGO:009754610.6NEK8, NPHP3
2ciliary inversin compartmentGO:009754310.6NEK8, NPHP3
3ciliumGO:000592910.2INVS, NEK8, NPHP3
4photoreceptor connecting ciliumGO:00323919.9ARL3, IQCB1

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:004849610.6IQCB1, NPHP3
2kidney developmentGO:000182210.4ARL3, NPHP3, PKHD1
3cell fate determinationGO:000170910.3JAG1, NOTCH2
4determination of left/right symmetryGO:000736810.3NEK8, NODAL, NPHP3
5photoreceptor cell maintenanceGO:004549410.2IQCB1, NPHP3
6animal organ morphogenesisGO:000988710.1JAG1, NEK8, NOTCH2
7Notch signaling involved in heart developmentGO:006131410.1JAG1, NOTCH2
8pulmonary valve morphogenesisGO:00031849.6JAG1, NOTCH2
9nervous system developmentGO:00073999.2JAG1, NODAL, NOTCH2, RET

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

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:00055169.9CALD1, INVS, IQCB1
2receptor activityGO:00048729.3NOTCH2, PKHD1, RET
3protein bindingGO:00055155.4ARL3, CALD1, ETFA, INVS, IQCB1, JAG1

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