MCID: RNL059
MIFTS: 34

Renal-Hepatic-Pancreatic Dysplasia malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Fetal 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 10 11 22 12 51 24 65
Bilateral Right-Sidedness Sequence 45 24
Asplenia Syndrome 45 65
Ivemark Syndrome 45 51
Asplenia with Cardiovascular Anomalies 45
 
Renohepaticopancreatic Dysplasia 51
Splenic Agenesis Syndrome 45
Ivemark Ii Syndrome 51
Ivemark's Syndrome 10

Classifications:



External Ids:

Disease Ontology10 DOID:0060259
Orphanet51 294415, 97548
ICD10 via Orphanet28 Q20.6
UMLS65 C2673883, C0175707

Summaries for Renal-Hepatic-Pancreatic Dysplasia

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NIH Rare Diseases:45 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 bilateral right-sidedness sequence, 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 (Nephronophthisis 3 (Adolescent)). Affiliated tissues include spleen, heart and prostate, and related mouse phenotypes are respiratory system and embryo.

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

Wikipedia:68 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 top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1renal-hepatic-pancreatic dysplasia 213.0
2renal-hepatic-pancreatic dysplasia 112.9
3meckel syndrome 711.9
4nphp3-related meckel-like syndrome11.9
5right atrial isomerism11.7
6heterotaxy11.5
7asplenia, isolated congenital10.5
8nephronophthisis 1, juvenile10.4INVS, NPHP3
9cogan-reese syndrome10.4INVS, NPHP3
10thyroiditis10.3
11atrioventricular septal defect 410.3
12heinz body anemia10.3
13atrioventricular septal defect 510.3
14panic disorder 210.3INVS, NEK8, NPHP3
15senior-loken syndrome-110.3INVS, IQCB1, NPHP3
16narcolepsy10.3INVS, NPHP3, PKHD1
17hereditary multiple exostoses10.2
18endocrine pancreas disease10.2JAG1, RET
19rheumatoid arthritis10.2
20colorectal cancer10.2
21otitis media10.2
22arthritis10.2
23hepatitis10.2
24maturity-onset diabetes of the young10.2
25dermatomyositis10.2
26melanoma10.2
27tracheal stenosis10.2
28pancreatitis10.2
29polyhydramnios10.2
30candida glabrata10.2
31spasmus nutans10.2
32primary hyperoxaluria10.2INVS, NEK8, NPHP3, PKHD1
33breast cancer10.2
34allergic rhinitis10.2
35keratitis10.2
36pulmonary fibrosis10.2
37sarcoma10.2
38paracoccidioidomycosis10.2
39adenocarcinoma10.2
40serous surface papilloma10.2ETFA, KRT7
41bacterial esophagitis10.2JAG1, RET
42parametritis10.1PKHD1, RET
43tricuspid valve insufficiency10.1JAG1, PKHD1
44chronic gonococcal salpingitis10.1INVS, IQCB1, NEK8, NPHP3
45allergic contact dermatitis10.1KRT7, NODAL
46supratentorial cancer10.1GDF1, JAG1, NODAL
47congenital adrenal insufficiency10.1GDF1, INVS, NODAL, NPHP3
48breast mucinous cystadenocarcinoma9.9KRT7, NODAL, RET
49cervical adenocarcinoma9.9CALD1, KRT7
50scrotal angioma9.9CALD1, KRT7

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 NPHP3

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

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

33
Spleen, Heart, Prostate, Testes, Monocytes, Endothelial, T cells

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

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

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6GDF1, INVS, NEK8, NODAL, NOTCH2, PKHD1
2MP:00053808.6GDF1, INVS, JAG1, NODAL, NOTCH2, NPHP3
3MP:00053818.4GDF1, INVS, JAG1, NODAL, NOTCH2, PKHD1
4MP:00053708.2ARL3, GDF1, INVS, JAG1, NODAL, NOTCH2
5MP:00053798.1ARL3, GDF1, INVS, JAG1, NOTCH2, PKHD1
6MP:00053847.7GDF1, INVS, JAG1, KRT7, NODAL, NOTCH2
7MP:00036317.6ARL3, GDF1, JAG1, NODAL, NOTCH2, NPHP3
8MP:00053977.6GDF1, INVS, JAG1, NODAL, NOTCH2, NPHP3
9MP:00053857.6GDF1, INVS, JAG1, NEK8, NODAL, NOTCH2
10MP:00053677.3ARL3, GDF1, INVS, JAG1, KRT7, NEK8
11MP:00107687.3ARL3, GDF1, INVS, JAG1, NEK8, NODAL
12MP:00053877.2ARL3, GDF1, INVS, NODAL, NOTCH2, NPHP3
13MP:00053786.9ARL3, GDF1, INVS, JAG1, NEK8, NODAL

Publications for Renal-Hepatic-Pancreatic Dysplasia

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Articles related to Renal-Hepatic-Pancreatic Dysplasia:

(show all 16)
idTitleAuthorsYear
1
Tripartite motif ligases catalyze polyubiquitin chain formation through a cooperative allosteric mechanism. (23408431)
2013
2
Association between vitamin A, vitamin E and apolipoprotein E status with mild cognitive impairment among elderly people in low-cost residential areas. (23321337)
2013
3
MTP -493G/T gene polymorphism is associated with steatosis in hepatitis C-infected patients. (22147193)
2012
4
(-)-Epigallocatechin gallate downregulates EGF receptor via phosphorylation at Ser1046/1047 by p38 MAPK in colon cancer cells. (19578043)
2009
5
Frequent p16-independent inactivation of p14ARF in human melanoma. (18505964)
2008
6
Involvement of Bcl-2 family members, phosphatidylinositol 3'-kinase/AKT and mitochondrial p53 in curcumin (diferulolylmethane)-induced apoptosis in prostate cancer. (17332930)
2007
7
Primary adrenal adult T-cell leukemia/lymphoma: a case report and review of the literature. (17373678)
2007
8
Effects of 12-O-tetradecanoylphorbol-13-acetate (TPA) in combination with paclitaxel (Taxol) on prostate Cancer LNCaP cells cultured in vitro or grown as xenograft tumors in immunodeficient mice. (16740769)
2006
9
A Burkitt's lymphoma case with eyelid, renal and pulmonary involvement. (16848125)
2006
10
A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects. (15602090)
2005
11
Asymptomatic aortic coarctation associated with loss of luminal continuity and intercostal artery aneurysm. (15041948)
2004
12
Effects of hereditary and acquired risk factors of venous thrombosis on a thrombin generation-based APC resistance test. (12152677)
2002
13
Long-term results of plaque thinning with carbide burs, small incisions and venous grafting for correcting complex penile curvature in Peyronie's disease: poor results of an "ideal" approach. (11956441)
2002
14
NMR studies of adrenocorticotropin hormone peptides in sodium dodecylsulfate and dodecylphosphocholine micelles: proline isomerism and interactions of the peptides with micelles. (11072226)
2001
15
Interaction between human monocytes and vascular smooth muscle cells induces vascular endothelial growth factor expression. (10781636)
2000
16
Insulin-like growth factor-I and parathyroid hormone: potential new therapeutic agents for the treatment of osteoporosis. (15991894)
1997

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
1photoreceptor connecting ciliumGO:00323919.7ARL3, IQCB1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1determination of left/right symmetryGO:000736810.2NODAL, NPHP3
2Notch signaling involved in heart developmentGO:006131410.1JAG1, NOTCH2
3pulmonary valve morphogenesisGO:000318410.1JAG1, NOTCH2
4positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.1GDF1, NODAL
5growthGO:004000710.0GDF1, NODAL
6cilium morphogenesisGO:006027110.0ARL3, NPHP3
7organelle organizationGO:00069969.4ARL3, IQCB1, NPHP3
8nervous system developmentGO:00073999.3JAG1, NODAL, NOTCH2

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