MCID: RNL059
MIFTS: 43

Renal-Hepatic-Pancreatic Dysplasia malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases, Endocrine diseases categories

Aliases & Classifications for Renal-Hepatic-Pancreatic Dysplasia

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Aliases & Descriptions for Renal-Hepatic-Pancreatic Dysplasia:

Name: Renal-Hepatic-Pancreatic Dysplasia 10 11 22 12 51 24 65
Bilateral Right-Sidedness Sequence 45 24
Ivemark Syndrome 45 51
Asplenia with Cardiovascular Anomalies 45
Renohepaticopancreatic Dysplasia 51
 
Splenic Agenesis Syndrome 45
Ivemark Ii Syndrome 51
Ivemark's Syndrome 10
Asplenia Syndrome 45


Classifications:



External Ids:

Disease Ontology10 DOID:0060259
Orphanet51 294415, 97548
ICD10 via Orphanet28 Q89.3

Summaries for Renal-Hepatic-Pancreatic Dysplasia

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NIH Rare Diseases:45 Ivemark syndrome is a rare condition that affects multiple organ systems of 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 (situs inversus). symptoms vary greatly depending on the specific abnormalities present. the exact cause of ivemark syndrome is not known. last updated: 9/20/2011

MalaCards based summary: Renal-Hepatic-Pancreatic Dysplasia, also known as bilateral right-sidedness sequence, is related to renal-hepatic-pancreatic dysplasia 1 and meckel syndrome 7. An important gene associated with Renal-Hepatic-Pancreatic Dysplasia is NPHP3 (Nephronophthisis 3 (Adolescent)). Affiliated tissues include heart and spleen, and related mouse phenotypes are liver/biliary system and respiratory system.

Disease Ontology:10 A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.

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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1renal-hepatic-pancreatic dysplasia 131.2NPHP3, NPHP3-ACAD11
2meckel syndrome 731.2NPHP3, NPHP3-ACAD11
3hepatitis10.8
4pancreatitis10.8
5renal-hepatic-pancreatic dysplasia 210.6
6nphp3-related meckel-like syndrome10.4
7asplenia, isolated congenital10.3
8right atrial isomerism10.3
9heterotaxy10.3
10nephronophthisis 310.3NPHP3, NPHP3-ACAD11
11nephronophthisis 2, infantile10.2INVS, NEK8
12ellis-van creveld syndrome10.2
13postpoliomyelitis syndrome10.2
14situs inversus10.2
15nephronophthisis 1, juvenile10.2INVS, NPHP3
16congenital pancreatic cyst10.2
17hiatus hernia10.2
18balo concentric sclerosis10.2INVS, NPHP3
19senior-loken syndrome-110.1INVS, IQCB1, NPHP3
20atrioventricular septal defect 410.1
21heinz body anemia10.1
22atrioventricular septal defect 510.1
23arthritis10.1
24polydactyly10.1
25hepatitis c10.1
26basal cell carcinoma10.1
27congenital heart disease10.1
28meningitis10.1
29pulmonary embolism10.1
30renal dysplasia10.1
31colon small cell carcinoma10.1INVS, NPHP3, PKHD1
32encephalocele anencephaly10.1NPHP3, NPHP3-ACAD11
33ornithosis10.1PKHD1, RET
34bardet-biedl syndrome 1310.1INVS, IQCB1, PKHD1
35thrombocytosis10.1
36placental abruption10.1
37lymphangiectasis10.1
38congenital microgastria10.1
39cystic teratoma10.1INVS, NEK8, NPHP3, PKHD1
40bladder tuberculosis10.0INVS, NODAL
41placenta praevia10.0PKHD1, RET
42pediatric liposarcoma10.0KRT7, NODAL
43multiple mucosal neuroma10.0ETFA, INVS, NPHP3, PKHD1
44visual agnosia10.0GDF1, INVS, NODAL, NPHP3
45schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma9.9CALD1, KRT7
46cervicitis9.9CALD1, KRT7
47apraxia9.9KRT7, NODAL, RET
48paranasal sinus sarcoma9.9CALD1, KRT7
49black piedra9.8INVS, IQCB1, NEK8, NPHP3, NPHP3-ACAD11, PKHD1
50intestinal perforation9.8KRT7, RET

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 Dysplasia22 24 NPHP3
2 Bilateral Right-Sidedness Sequence24

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

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

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5ARL3, GDF1, INVS, NODAL, PKHD1, RBP1
2MP:00053888.4GDF1, INVS, NEK8, NODAL, PKHD1, RET
3MP:00053858.4GDF1, INVS, NEK8, NODAL, NPHP3, PKHD1
4MP:00053798.1ARL3, GDF1, INVS, PKHD1, RBP1, RET
5MP:00053977.7GDF1, INVS, NODAL, NPHP3, PKHD1, RBP1
6MP:00053877.3ARL3, GDF1, INVS, NODAL, NPHP3, PKHD1
7MP:00053676.9ARL3, CALD1, GDF1, INVS, KRT7, NEK8
8MP:00107686.8ARL3, CALD1, GDF1, INVS, NEK8, NODAL
9MP:00053786.4ARL3, CALD1, GDF1, INVS, NEK8, NODAL

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 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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Clinvar genetic disease variations for Renal-Hepatic-Pancreatic Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NPHP3NPHP3, IVS19AS, 2-BP DELdeletionPathogenic
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:009754310.1INVS, NEK8, NPHP3
2ciliary baseGO:009754610.1INVS, NEK8, NPHP3
3ciliumGO:00059299.6NEK8, NPHP3, NPHP3-ACAD11
4photoreceptor connecting ciliumGO:00323919.5ARL3, IQCB1
5primary ciliumGO:00723729.0ARL3, NEK8, NPHP3, NPHP3-ACAD11, PKHD1

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1atrial septum developmentGO:000328310.5NPHP3, NPHP3-ACAD11
2convergent extension involved in gastrulationGO:006002710.5NPHP3, NPHP3-ACAD11
3determination of intestine left/right asymmetryGO:007190810.5NPHP3, NPHP3-ACAD11
4determination of stomach left/right asymmetryGO:007190910.5NPHP3, NPHP3-ACAD11
5regulation of Wnt signaling pathway, planar cell polarity pathwayGO:200009510.5NPHP3, NPHP3-ACAD11
6regulation of planar cell polarity pathway involved in neural tube closureGO:200016710.5NPHP3, NPHP3-ACAD11
7ureter developmentGO:007218910.5NPHP3, NPHP3-ACAD11
8kidney morphogenesisGO:006099310.4NPHP3, NPHP3-ACAD11
9determination of pancreatic left/right asymmetryGO:003546910.4NPHP3, NPHP3-ACAD11
10epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.4NPHP3, NPHP3-ACAD11
11determination of liver left/right asymmetryGO:007191010.3NPHP3, NPHP3-ACAD11
12growthGO:004000710.2GDF1, NODAL
13positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.2GDF1, NODAL
14maintenance of organ identityGO:004849610.2IQCB1, NPHP3, NPHP3-ACAD11
15heart loopingGO:00019479.9NODAL, NPHP3, NPHP3-ACAD11
16photoreceptor cell maintenanceGO:00454949.7IQCB1, NPHP3, NPHP3-ACAD11
17cilium morphogenesisGO:00602719.7ARL3, NPHP3, NPHP3-ACAD11
18Wnt signaling pathwayGO:00160559.5INVS, NPHP3, NPHP3-ACAD11
19lung developmentGO:00303249.5NODAL, NPHP3, NPHP3-ACAD11
20determination of left/right symmetryGO:00073689.5NODAL, NPHP3, NPHP3-ACAD11
21negative regulation of canonical Wnt signaling pathwayGO:00900909.3INVS, NPHP3, NPHP3-ACAD11
22organelle organizationGO:00069969.1ARL3, IQCB1, NPHP3, NPHP3-ACAD11
23kidney developmentGO:00018228.8ARL3, INVS, NPHP3, NPHP3-ACAD11, PKHD1

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor bindingGO:000516010.0GDF1, NODAL
2calmodulin bindingGO:00055169.0CALD1, INVS, IQCB1

Sources for Renal-Hepatic-Pancreatic Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet