MCID: RNL059
MIFTS: 39

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 23 13 52 25 12 66
Asplenia Syndrome 46 25 66
Bilateral Right-Sidedness Sequence 46 25
Asplenia with Cardiovascular Anomalies 46
Renohepaticopancreatic Dysplasia 52
 
Splenic Agenesis Syndrome 46
Ivemark Ii Syndrome 52
Ivemark's Syndrome 11
Ivemark Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
renal-hepatic-pancreatic dysplasia:
Inheritance: Autosomal recessive

Classifications:



External Ids:

Disease Ontology11 DOID:0060259
Orphanet52 ORPHA294415

Summaries for Renal-Hepatic-Pancreatic Dysplasia

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NIH Rare Diseases:46 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). Affiliated tissues include heart and spleen, and related mouse phenotypes are respiratory system 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:69 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 34)
idRelated DiseaseScoreTop Affiliating Genes
1renal-hepatic-pancreatic dysplasia 212.6
2renal-hepatic-pancreatic dysplasia 112.6
3meckel syndrome 711.6
4right atrial isomerism11.4
5heterotaxy11.4
6panic disorder 210.6INVS, NEK8
7hepatitis10.6
8pancreatitis10.6
9carbohydrate metabolic disorder10.4INVS, NEK8, NPHP3
10senior-loken syndrome-110.4INVS, IQCB1, NPHP3
11crest syndrome10.4INVS, NPHP3
12mirage syndrome10.3JAG1, NOTCH2
13hereditary sensory neuropathy10.3INVS, NODAL, NPHP3
14epileptic encephalopathy, early infantile, 1410.3ARL3, INVS, IQCB1
15papilloma10.2ETFA, KRT7
16necrotizing ulcerative gingivitis10.1JAG1, RET
17perineocele10.1PKHD1, RET
18primary hypertrophic osteoarthropathy10.1JAG1, RET
19food allergy10.1KRT7, NODAL
20asplenia, isolated congenital10.1
21hajdu-cheney syndrome10.0JAG1, NOTCH2
22ellis-van creveld syndrome10.0
23situs inversus10.0
24bladder calculus9.9KRT7, RET
25telangiectasis9.9INVS, IQCB1, NEK8, NPHP3, PKHD1
26testicular trophoblastic tumor9.8JAG1, PKHD1
27prostate colloid adenocarcinoma9.8CALD1, KRT7
28adult central nervous system choriocarcinoma9.8CALD1, KRT7
29cervix endometriosis9.7KRT7, NODAL, RET
30fragile x-associated tremor/ataxia syndrome9.7ETFA, INVS, JAG1, NPHP3, PKHD1
31lacrimal passage granuloma9.7CALD1, KRT7
32mucinous adenofibroma9.4CALD1, KRT7
33scar contracture9.4ARL3, INVS, IQCB1, NPHP3, RCC1
34gallbladder disease5.4ARL3, 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 Dysplasia25 23 NPHP3
2 Bilateral Right-Sidedness Sequence25
3 Asplenia25

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

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

34
Heart, Spleen

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

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7INVS, NEK8, NODAL, NOTCH2, PKHD1, RET
2MP:00053708.5ARL3, INVS, JAG1, NODAL, NOTCH2, PKHD1
3MP:00053818.3INVS, JAG1, NODAL, NOTCH2, PKHD1, RET
4MP:00053878.1ARL3, INVS, NODAL, NOTCH2, NPHP3, PKHD1
5MP:00053797.9ARL3, INVS, JAG1, NOTCH2, PKHD1, RBP1
6MP:00053977.8INVS, JAG1, NODAL, NOTCH2, NPHP3, PKHD1
7MP:00053857.7INVS, JAG1, NEK8, NODAL, NOTCH2, NPHP3
8MP:00053787.1ARL3, INVS, JAG1, NEK8, NODAL, NOTCH2
9MP:00053677.0ARL3, INVS, JAG1, KRT7, NEK8, 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
1NM_153240.4(NPHP3): c.2694-2_2694-1delAGdeletionPathogenicrs751527253GRCh37Chr 3, 132408108: 132408109
2NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter)single nucleotide variantPathogenicrs119456962GRCh37Chr 3, 132419192: 132419192
3NM_001492.5(GDF1): c.681C> A (p.Cys227Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121434422GRCh37Chr 19, 18979844: 18979844
4NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter)single nucleotide variantPathogenicrs368138001GRCh37Chr 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
2photoreceptor connecting ciliumGO:003239110.2ARL3, IQCB1
3ciliary baseGO:009754610.0NEK8, NPHP3
4ciliumGO:00059299.7INVS, NEK8, NPHP3
5primary ciliumGO:00723729.7ARL3, NEK8, NPHP3, PKHD1

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
4Notch signaling involved in heart developmentGO:006131410.0JAG1, NOTCH2
5animal organ morphogenesisGO:00098879.8JAG1, NEK8, NOTCH2
6cell fate determinationGO:00017099.8JAG1, NOTCH2
7determination of left/right symmetryGO:00073689.8NEK8, NODAL, NPHP3
8photoreceptor cell maintenanceGO:00454949.6IQCB1, 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:00055169.7CALD1, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet