MCID: RNL059
MIFTS: 37

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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Renal-Hepatic-Pancreatic Dysplasia, Aliases & Descriptions:

Name: Renal-Hepatic-Pancreatic Dysplasia 9 10 20 47 22 60
Bilateral Right-Sidedness Sequence 41 22
Ivemark Syndrome 41 47
Asplenia with Cardiovascular Anomalies 41
Renohepaticopancreatic Dysplasia 47
 
Splenic Agenesis Syndrome 41
Ivemark Ii Syndrome 47
Ivemark's Syndrome 9
Asplenia Syndrome 41


Classifications:



External Ids:

Disease Ontology9 DOID:0060259
Orphanet47 294415, 97548
ICD10 via Orphanet26 Q89.3

Summaries for Renal-Hepatic-Pancreatic Dysplasia

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NIH Rare Diseases:41 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 situs inversus. An important gene associated with Renal-Hepatic-Pancreatic Dysplasia is NPHP3 (nephronophthisis 3 (adolescent)). Affiliated tissues include spleen and heart, and related mouse phenotypes are respiratory system and renal/urinary system.

Disease Ontology:9 A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.

Wikipedia:63 Renal-hepatic-pancreatic dysplasia is an autosomal recessive congenital disorder characterized by... more...

Related Diseases for Renal-Hepatic-Pancreatic Dysplasia

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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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Drug clinical trials:

Search ClinicalTrials for Renal-Hepatic-Pancreatic Dysplasia

Search 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 Dysplasia20 22 NPHP3
2 Bilateral Right-Sidedness Sequence22

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

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

31
Spleen, Heart

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

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.2PKHD1, NEK8, GDF1
2MP:00053678.1NPHP3, PKHD1, NEK8, GDF1
3MP:00053858.1GDF1, NEK8, PKHD1, NPHP3
4MP:00107688.1NPHP3, PKHD1, NEK8, GDF1
5MP:00053788.0GDF1, NEK8, PKHD1, NPHP3

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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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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Compounds 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
1primary ciliumGO:00723728.6NPHP3, PKHD1, NEK8

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

idNameGO IDScoreTop Affiliating Genes
1kidney developmentGO:00018229.2NPHP3, PKHD1

Products for genes affiliated with Renal-Hepatic-Pancreatic Dysplasia

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Sources for Renal-Hepatic-Pancreatic Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet