Summaries for Digeorge Syndrome

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6Disease Ontology, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards
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Disease Ontology: A t cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the dgs gene needed for development of the thymus and related glands with subsequent lack of t-cell production.6

MalaCards: Digeorge Syndrome, also known as di george's syndrome, is related to velocardiofacial syndrome and conotruncal anomaly face syndrome. An important gene associated with Digeorge Syndrome is DGCR14 (DiGeorge syndrome critical region gene 14). The compounds stresson and sulfolipid i have been mentioned in the context of this disorder. Affiliated tissues include thymus, heart and t cells, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Genetics Home Reference: 22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.17

Wikipedia: 22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge...44 more...

OMIM: 188400

Aliases & Descriptions for Digeorge Syndrome

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6Disease Ontology, 7diseasecard, 44Wikipedia, 16GeneTests, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS, 40SNOMED-CT, 19ICD9CM, 24MeSH, 27NCIt
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Aliases & Descriptions:

digeorge syndrome 6 7 8 33 32 43
di george's syndrome 44 16
digeorge sequence (disorder) 6
pharyngeal pouch syndrome 6
digeorge's syndrome 6
dgs 16

External Ids:

ICD9CM19 279.11
NCIt27 C2989

Related Diseases for Digeorge Syndrome

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13GeneCards, 14GeneDecks
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Disease types for digeorge syndrome family:

digeorge syndrome 2

Diseases related to digeorge syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1velocardiofacial syndrome33.2DGCR6, COMT, TBX1, UFD1L, SEPT5
2conotruncal anomaly face syndrome29.3DGCR, CTHM, TBX1, UFD1L
3ulnar-mammary syndrome13.6TBX5, TBX3, TBX1
4faces syndrome13.6UFD1L, TBX1, CTHM, DGCR
5holt-oram syndrome13.6TBX1, TBX3, TBX5
6ventricular septal defect13.5HIRA, TBX5, TBX1, CLTCL1, ZNF74
7atrioventricular septal defect13.4TBX5, TBX1, CLTCL1, ZNF74
8murcs association13.4TBX5, TBX3
9double outlet right ventricle13.2TBX1, DVL1, NKX2-6
10tetralogy of fallot13.0DGCR, HIRA, TBX1, MTHFR, UFD1L, CLTCL1
11retinal vascular disease12.4NRP1, MTHFR
12hyperthyroxinemia12.3CD79A, TTR, GGT3P
13congenital toxoplasmosis12.2CD79A, CD40LG
14agammaglobulinemia12.1IGHM, CD40LG, CD79A
15primary open angle glaucoma12.1GGT3P, TTR, CYP26A1, GTF3A, MTHFR
16cryofibrinogenemia12.0CD40LG, CD79A
17pharyngitis12.0NKX2-6, DGCR6L, DGCR6, DGCR, TBX5, TBX3
18keratomalacia12.0TTR, CYP26B1, CYP26A1, ALDH1A2, CD40LG
19open-angle glaucoma11.9MTHFR, GTF3A, CYP26A1, TTR, GGT3P
20autoimmune disease of central nervous system11.8CD79A, CD40LG, TTR
21neural tube defect11.8DVL1, CYP26B1, CYP26A1, ALDH1A2, CD40LG, MTHFR
22spina bifida11.7CYP26B1, CYP26A1, ALDH1A2, CECR2, MTHFR
23al amyloidosis11.7TTR, CD40LG, CD79A
24heparin-induced thrombocytopenia11.4IGSF3, CD40LG, CD79A, MTHFR
25congenital heart defect11.0TTR, TBX5, TBX1, CD40LG, CD79A, MTHFR
26blindness10.5TBX3, TBX5, COMT, TTR, TBX10, TBX1
27thrombosis10.3TTR, COMT, NRP1, IGHM, IGES, CD40LG
28schizophrenia9.7NRP1, COMT, TTR, DGCR14, DGCR2, DGCR6
29digeorge syndrome 28.0
30digeorge syndrome/velocardiofacial syndrome complex7.3
31digeorge syndrome/velocardiofacial syndrome complex-27.3
32hypoparathyroidism6.8
33leukemia6.2
3422q11.2 distal deletion syndrome5.9
35antiphospholipid syndrome5.9
36aorta atresia5.9
37aortic arch interruption5.9
38chromosome 22q11.2 deletion syndrome, distal5.9
39cryoglobulinemia5.9
40hyperhomocysteinemia5.9
41hypocalcemia5.9
42opitz g/bbb syndrome5.9
43rickets5.9
44retinitis5.9
45burkitt's lymphoma5.3
46chronic lymphocytic leukemia5.3
47carcinoma5.3
48degos disease5.3
49degos 'en cocarde' erythrokeratoderma5.3
50digestive diseases5.3

Graphical network of the top 20 diseases related to digeorge syndrome:



Graphical network of diseases related to digeorge syndrome

Clinical Features for Digeorge Syndrome

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33OMIM
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Clinical features from OMIM: 188400

Drugs & Therapeutics for Digeorge Syndrome

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Digeorge Syndrome

Anatomical Context for Digeorge Syndrome

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22MalaCards
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MalaCards organs/tissues related to digeorge syndrome:

22
Thymus, Heart, T cells, Endothelial

Phenotypes for genes affiliated with Digeorge Syndrome

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25MGI
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MGI Mouse Phenotypes related to digeorge syndrome:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1hearing/vestibular/ear phenotypeMP:00053778.4DGCR8, DVL1, CRKL, TBX10, TBX1, ALDH1A2
2craniofacial phenotypeMP:00053827.9CYP26A1, CYP26B1, NRP1, CRKL, HIRA, TBX3
3limbs/digits/tail phenotypeMP:00053717.6CRKL, CYP26B1, CYP26A1, TBX5, TBX3, TBX1
4embryogenesis phenotypeMP:00053807.2CHAF1A, NKX2-6, DVL1, HIRA, COMT, CRKL
5cardiovascular system phenotypeMP:00053857.1NRP1, SMTN, CRKL, COMT, HIRA, DVL1
6nervous system phenotypeMP:00036316.8CYP26A1, NRP1, CRKL, COMT, HIRA, DVL1
7mortality/agingMP:00107684.8TBX3, TBX5, CYP26A1, CYP26B1, NRP1, SMTN

Publications for genes affiliated with Digeorge Syndrome

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35PubMed
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Articles related to digeorge syndrome:

(show top 50)    (show all 52)
idTitleAuthorsYearAffiliating Genes
1Diminished dosage of 22q11 genes disrupts neurogenesi s and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome . (19805316)Meechan D.W.... LaMantia A.S.2009PRODH, TBX1
2Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. (19420922)Bittel D.C.... Cooley L.D.2009PRODH, HIC2, DGCR6
3Role of IL-7 in the regulation of T-cell homeostasis in partial DiGeorge syndrome. (19230961)Tantibhaedhyangkul U.... Chinen J.2009IL7
4Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. (16900388)Long J.M.... Wynshaw-Boris A.2006GSC
5Type III mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial DiGeorge syndrome. (17162366)Chang A.D.... Yadin O.2006CD40LG
6Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay? (16412249)Cundiff D.K.... Harris W.2006TTR
7antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome). (16595601)Nucera C.... Vermiglio F.2006MTHFR
8Role of the vascular endothelial growth factor isoforms in retinal angiogenesis and DiGeorge syndrome. (16334858)Stalmans I.2005NRP1
9Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. (15703190)Stoller J.Z.... Epstein J.A.2005TBX1, TBX10
10DiGeorge syndrome: an update. (15096950)Baldini A.2004TBX1
11The human DiGeorge syndrome critical region gene 8 and its D. melanogaster homolog are required for miRNA biogenesis. (15589161)Landthaler M.... Tuschl T.2004DGCR8, DROSHA
12Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. (12705904)Shiohama A.... Shimizu N.2003DGCR8
13VEGF: a modifier of the del22q11 (DiGeorge) syndrome? (12539040)Stalmans I.... Carmeliet P.2003TBX1
14Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. (12702512)Markert M.L.... Mill M.R.2003IGES
15Genetic dissection of the DiGeorge syndrome phenotype. (12858556)Vitelli F.... Baldini A.2002TBX1
16RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction. (11804793)Maynard T.M.... LaMantia A.S.2002RANBP1
17Developing models of DiGeorge syndrome. (11585671)Epstein J.A.2001TBX1
18TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. (11239417)Merscher S.... Kucherlapati R.2001TBX1
19Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. (11709542)Funke B.... Morrow B.E.2001TBX1, SEPT5, GNB1L
20Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (11713452)Jawad A.F.... Sullivan K.E.2001DGCR
21DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. (11242110)Jerome L.A.... Papaioannou V.E.2001TBX1
22High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2. (11589220)Iida A.... Tanaka T.2001DGCR2
23Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11. (11350118)Funke B.... Morrow B.E.2001GNB1L
24GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide. (11072084)Gong L.... Yeh E.T.H.2000GNB1L
25Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome. (10940632)Maldonado-Saldivia J.... Schorle H.2000SEPT5
26Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11. (10364538)Wadey R.... Scambler P.1999UFD1L
27ZNF74, a gene deleted in DiGeorge syndrome, is expressed in human neural crest-derived tissues and foregut endoderm epithelia. (10585771)Ravassard P.... Aubry M.1999ZNF74
28Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. (10381330)Pizzuti A.... Dallapiccola B.1999HIRA
29Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). (10440825)McQuade L.... Colley A.1999TBX1
30ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene. (9499415)Lindsay E.A.... Baldini A.1998DGCR14
31Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (9606003)Smith C.A.... Sullivan K.E.1998CD79A
32The DiGeorge syndrome minimal critical region contains a goosecoid- like (GSCL) homeobox gene that is expressed early in human development. (9150167)Gottlieb S.... Budarf M.L.1997GSC2
33Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation. (9383280)Botta A.... Baldini A.1997DGCR14
34Cloning and developmental expression analysis of chic k Hira (Chira), a candidate gene for DiGeorge syndrome. (9063744)Roberts C.... Scambler P.J.1997HIRA
35A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. (9385360)McKie J.... Scambler P.J.1997SEPT5
36Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. (9063747)Gong W.... Budarf M.L.1997DGCR14
37A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome. (9605865)Lindsay E.A.... Baldini A.1997DGCR6
38Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. (8733130)Demczuk S.... Aurias A.1996DGCR6
39Structural organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22. (8681138)Lorain S.... Lipinski M.1996HIRA
40Human homologue sequences to the Drosophila dishevelled segment- polarity gene are deleted in the DiGeorge syndrome. (8644734)Pizzuti A.... Dallapiccola B.1996DVL1, DVL1L1
41Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome. (8995764)Llevadot R.... Pritchard M.1996HIRA
42Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. (7633403)Demczuk S.... Aurias A.1995DGCR2
43Isolation and characterization of a novel gene deleted in DiGeorge syndrome. (7633402)Kurahashi H.... Nishisho I.1995LZTR1
44Localization of the human mitochondrial citrate transporter protein gene to chromosome 22q11 in the DiGeorge syndrome critical region. (8666394)Heisterkamp N.... Groffen J.1995SLC25A1
45A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region. (7633437)Lamour V.... Lipinski M.1995HIRA
46Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. (7655455)Wadey R.... Scambler P.J.1995DGCR2
47Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. (8111380)Halford S.... Scambler P.J.1993HIRA
48Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. (8268910)Aubry M.... Rouleau G.A.1993ZNF74, GTF3A
49Diversification, not use, of the immunoglobulin VH ge ne repertoire is restricted in DiGeorge syndrome. (8350056)Haire R.N.... Good R.A.1993IGHM
50DiGeorge syndrome and 22q11 rearrangements. (3770751)Augusseau S.... Prieur M.1986DGCR2

Expression for genes affiliated with Digeorge Syndrome

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Digeorge Syndrome

Pathways for genes affiliated with Digeorge Syndrome

Compounds for genes affiliated with Digeorge Syndrome

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32Novoseek
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Compounds related to digeorge syndrome according to GeneDecks:

idCompoundScoreTop Affiliating Genes
1stresson32 9.2TTR, CD40LG
2sulfolipid i32 9.1CD40LG, CD79A
3sandoglobulin32 9.1CD79A, CD40LG
4hemocyanin32 8.9CD79A, CD40LG, IL7
5gliadin32 8.7IL7, CD40LG, CD79A
6vitamin b1232 8.0MTHFR, CD79A, CD40LG, COMT, TTR

GO Terms for genes affiliated with Digeorge Syndrome

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12Gene Ontology
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Cellular components related to digeorge syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056346.8ZNF222, TBX1, TBX10, TBX3, TBX5, HIRIP3

Biological processes related to digeorge syndrome according to GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tongue muscle cell differentiationGO:200103710.3TBX1, CYP26B1
2anatomical structure morphogenesisGO:00965310.2HIRA, LZTR1, TBX10, GSC2, MRPL40, CLTCL1
3embryonic forelimb morphogenesisGO:03511510.0ALDH1A2, TBX3, TBX5
4retinoic acid receptor signaling pathwayGO:0483849.9ALDH1A2, TBX1, CYP26A1, CYP26B1
5retinoic acid catabolic processGO:0346539.8CYP26A1, CYP26B1
6cellular response to retinoic acidGO:0713009.8ALDH1A2, TBX1, CYP26A1, CYP26B1
7blood vessel developmentGO:0015689.7CRKL, TBX3, TBX1, ALDH1A2
8organ morphogenesisGO:0098879.6DGCR6, DGCR2, CRKL, NRP1, TBX3, IL7
9heart morphogenesisGO:0030079.5TBX1, ALDH1A2, CHD7

Molecular functions related to digeorge syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinoic acid 4-hydroxylase activityGO:00840110.1CYP26A1, CYP26B1

Sources for Digeorge Syndrome

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS