MCID: IVM001
MIFTS: 37

Ivemark Syndrome malady

Cardiovascular category

Summaries for Ivemark Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Ivemark Syndrome, also known as bilateral right-sidedness sequence, is related to conn's syndrome and right atrial isomerism. An important gene associated with Ivemark Syndrome is LEFTY2 (left-right determination factor 2), and among its related pathways are TGF-beta signaling pathway and Axon guidance. The compounds 1,3,5-BENZENETRICARBOXYLIC ACID and 4-Carboxycinnamic Acid have been mentioned in the context of this disorder. Affiliated tissues include tongue, kidney and lung, and related mouse phenotype liver/biliary system.

Wikipedia:64 Asplenia with cardiovascular anomalies or Ivemark syndrome, also known as Right Atrial Isomerism, is an... more...

Aliases & Classifications for Ivemark Syndrome

Sources:
43NIH Rare Diseases, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular


Aliases & Descriptions:

ivemark syndrome 43
bilateral right-sidedness sequence 43 22
asplenia with cardiovascular anomalies 43
splenic agenesis syndrome 43
asplenia syndrome 43


Related Diseases for Ivemark Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Ivemark Syndrome:



Diseases related to ivemark syndrome

Clinical Features for Ivemark Syndrome

Drugs & Therapeutics for Ivemark Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Ivemark Syndrome

Search CenterWatch for Ivemark Syndrome

Genetic Tests for Ivemark Syndrome

Sources:
22GTR
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Genetic tests related to Ivemark Syndrome:

id Genetic test Affiliating Genes
1 Bilateral Right-sidedness Sequence22

Anatomical Context for Ivemark Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Ivemark Syndrome:

33
Tongue, Kidney, Lung, Spleen, Heart, Small intestine, B cells, Appendix

Animal Models for Ivemark Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Ivemark Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6LEFTY1, LEFTY2, HBB, MUC1

Publications for Ivemark Syndrome

Sources:
51PubMed
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Articles related to Ivemark Syndrome:

(show all 30)
idTitleAuthorsYear
1
Hepatitis C-related mixed type vitiligo in a patient with Ivemark syndrome. (24433294)
2014
2
Acute pulmonary embolism revealing Ivemark syndrome in an adult. (23375428)
2013
3
Congenital pancreatic cyst with Ivemark II syndrome: a rare case. (22424375)
2012
4
Intestinal microvascular malformations and congenital asplenia in an adolescent possibly expanding the phenotype of Ivemark syndrome. (21946075)
2011
5
Early-onset basal cell carcinoma in a case of Ivemark syndrome. (20959271)
2010
6
Pregnancy and delivery of a patient with Ivemark syndrome (with polysplenia). (17555862)
2008
7
Pancreatic aplasia in a fetus with asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome). (18496831)
2008
8
Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). (17605805)
2007
9
Ivemark syndrome in association with congenital septum transversum defect and pancreatic divisum. (16763342)
2006
10
Ivemark syndrome with agenesis of the corpus callosum: a case report with a review of the literature. (12424766)
2002
11
Streptococcus bovis meningitis in a neonate with Ivemark syndrome. (11874168)
2002
12
Spontaneous biliary perforation in a child with features of Ivemark syndrome. (10663854)
2000
13
Does Ser364Pro mutation of connexin 43 exist in Taiwanese patients with Ivemark syndrome? (11037645)
2000
14
Mutation analysis of human LEFTY A and LEFTY B genes in children with Ivemark syndrome. (11100524)
2000
15
Ivemark syndrome: asplenia with kidney collecting duct cysts and polysplenia with cerebellar cyst. (11105625)
2000
16
Ontogeny of renal dysplasia in Ivemark syndrome: light and immunohistochemical characterization. (10074963)
1999
17
Successful heart transplantation in a patient with Ivemark syndrome combined with situs inversus, single atrium and ventricle after total cavo-pulmonary connection. (9879878)
1998
18
Ivemark syndrome with asplenia in siblings. (9152295)
1997
19
Ivemark syndrome. A case with successful surgical intervention. (9264168)
1997
20
Ivemark syndrome: a case report. (9257479)
1997
21
Gouty arthritis in a patient with Ivemark syndrome. (8701391)
1996
22
Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? (8723090)
1996
23
The Ivemark syndrome: prenatal diagnosis of an uncommon cystic renal lesion with heterogeneous associations. (8580017)
1995
24
Ivemark syndrome in siblings. (7172476)
1982
25
Fetal cardiac abnormality and real-time ultrasound study:a case of Ivemark syndrome. (446014)
1979
26
99mTechnetium pyridoxylidene glutamate imaging in visceral heterotaxy (Ivemark's syndrome). (488637)
1979
27
Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs. (4774542)
1973
28
Ivemark syndrome with aortic atresia. (4579213)
1973
29
CONGENITAL HEART DISEASE WITH THE IVEMARK SYNDROME AND ABSENCE OF THE INFERIOR VENA CAVA. (14275331)
1965
30
Internal hernias due to defects in the meso-appendix and mesentery of small bowel, and probable Ivemark syndrome: report of two cases. (13974693)
1963

Genetic Variations for Ivemark Syndrome

Expression for genes affiliated with Ivemark Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ivemark Syndrome

Search GEO for disease gene expression data for Ivemark Syndrome.

Pathways for genes affiliated with Ivemark Syndrome

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Ivemark Syndrome

Sources:
11DrugBank, 45Novoseek, 24HMDB
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Compounds related to Ivemark Syndrome according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
11,3,5-BENZENETRICARBOXYLIC ACID119.8HBB, HBA1
24-Carboxycinnamic Acid119.8HBA1, HBB
32-[4-({[(3,5-DICHLOROPHENYL)AMINO]CARBONYL}AMINO)PHENOXY]-2-METHYLPROPANOIC ACID119.8HBA1, HBB
42-[(2-methoxy-5-methylphenoxy)methyl]pyridine119.8HBA1, HBB
52,6-DICARBOXYNAPHTHALENE119.7HBA1, HBB
64-[(5-methoxy-2-methylphenoxy)methyl]pyridine119.7HBA1, HBB
72-{4-[(3,5-DIMETHYLANILINO)-CARBONYL-METHYL]-PHENOXY}-2-METHYLPROPIONIC ACID119.7HBA1, HBB
8SEBACIC ACID119.7HBA1, HBB
9iron dextran45 1110.6HBB, HBA1
1023-diphosphoglycerate459.4HBA2, HBB
11hmba459.4HBB, HBA2
12butyrate458.9HBB, HBA2, MUC1
13thymidine45 249.9MUC1, HBA2, HBB
14iron45 249.6HBA1, HBB, HBA2
15oxygen45 249.4HBA1, HBB, HBA2, MUC1

GO Terms for genes affiliated with Ivemark Syndrome

Sources:
16Gene Ontology
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Cellular components related to Ivemark Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.3HBB, HBA2
2haptoglobin-hemoglobin complexGO:0318389.2HBB, HBA2
3hemoglobin complexGO:0058339.0HBB, HBA2

Biological processes related to Ivemark Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cell growthGO:0160499.6LEFTY1, LEFTY2
2oxygen transportGO:0156719.5HBB, HBA2
3positive regulation of cell deathGO:0109429.4HBB, HBA2
4hydrogen peroxide catabolic processGO:0427449.4HBB, HBA2
5bicarbonate transportGO:0157019.3HBA2, HBB
6response to hydrogen peroxideGO:0425429.2HBB, HBA2
7protein heterooligomerizationGO:0512919.0HBB, HBA2

Molecular functions related to Ivemark Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor bindingGO:0051609.6LEFTY1, LEFTY2
2haptoglobin bindingGO:0317209.4HBB, HBA2
3oxygen bindingGO:0198259.3HBB, HBA2
4oxygen transporter activityGO:0053449.2HBA2, HBB
5peroxidase activityGO:0046019.0HBB, HBA2

Products for genes affiliated with Ivemark Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ivemark Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet