MCID: DGR001
MIFTS: 49

Digeorge Syndrome malady

Genetic diseases (common), Immune diseases, Gastrointestinal diseases categories

Summaries for Digeorge Syndrome

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OMIM:45 DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow... (188400) more...

MalaCards based summary: Digeorge Syndrome, also known as di george's syndrome, is related to velocardiofacial syndrome and hypoparathyroidism, and has symptoms including acne, schizophrenia and autosomal dominant inheritance. An important gene associated with Digeorge Syndrome is DGCR (DiGeorge syndrome chromosome region). Affiliated tissues include t cells, thymus and heart.

Disease Ontology:9 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.

Wikipedia:63 22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge... more...

Aliases & Classifications for Digeorge Syndrome

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Related Diseases for Digeorge Syndrome

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Graphical network of the top 20 diseases related to Digeorge Syndrome:



Diseases related to digeorge syndrome

Symptoms for Digeorge Syndrome

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Symptoms by clinical synopsis from OMIM:

188400

Clinical features from OMIM:

188400

HPO human phenotypes related to Digeorge Syndrome:

(show all 50)
id Description Frequency HPO Source Accession
1 acne 23% HP:0001061
2 schizophrenia 22% HP:0100753
3 autosomal dominant inheritance HP:0000006
4 inguinal hernia HP:0000023
5 renal dysplasia HP:0000110
6 unilateral renal agenesis HP:0000122
7 hydronephrosis HP:0000126
8 cleft palate HP:0000175
9 bifid uvula HP:0000193
10 high palate HP:0000218
11 hypertelorism HP:0000316
12 short philtrum HP:0000322
13 micrognathia HP:0000347
14 low-set ears HP:0000369
15 abnormality of the middle ear HP:0000370
16 esotropia HP:0000565
17 exotropia HP:0000577
18 blepharophimosis HP:0000581
19 posterior embryotoxon HP:0000627
20 amblyopia HP:0000646
21 sclerocornea HP:0000647
22 delayed speech and language development HP:0000750
23 abnormality of the thymus HP:0000777
24 hypothyroidism HP:0000821
25 parathyroid hypoplasia HP:0000860
26 seborrheic dermatitis HP:0001051
27 cholelithiasis HP:0001081
28 seizures HP:0001250
29 global developmental delay HP:0001263
30 tetany HP:0001281
31 specific learning disability HP:0001328
32 obesity HP:0001513
33 umbilical hernia HP:0001537
34 nasal speech HP:0001611
35 ventricular septal defect HP:0001629
36 tetralogy of fallot HP:0001636
37 patent ductus arteriosus HP:0001643
38 truncus arteriosus HP:0001660
39 right aortic arch with mirror image branching HP:0002627
40 scoliosis HP:0002650
41 recurrent infections HP:0002719
42 hypocalcemia HP:0002901
43 short stature HP:0004322
44 impaired t cell function HP:0005435
45 attention deficit hyperactivity disorder HP:0007018
46 bipolar affective disorder HP:0007302
47 parathyroid agenesis HP:0008211
48 interrupted aortic arch HP:0011611
49 short palpebral fissure HP:0012745
50 femoral hernia HP:0100541

Drugs & Therapeutics for Digeorge Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Digeorge Syndrome

Genetic Tests for Digeorge Syndrome

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Genetic tests related to Digeorge Syndrome:

id Genetic test Affiliating Genes
1 Digeorge Syndrome20
2 Digeorge Sequence22

Anatomical Context for Digeorge Syndrome

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MalaCards organs/tissues related to Digeorge Syndrome:

31
T cells, Thymus, Heart, Bone, Bone marrow, Thyroid, B cells, Endothelial, Eye, Brain, Smooth muscle, Kidney, Liver, Lung, Pancreas, Trachea

Animal Models for Digeorge Syndrome or affiliated genes

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Publications for Digeorge Syndrome

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Articles related to Digeorge Syndrome:

(show top 50)    (show all 353)
idTitleAuthorsYear
1
Vaccine Responses and Immunologic Characteristics of Pediatric Patients With DiGeorge Syndrome. (25573949)
2015
2
DiGeorge syndrome who developed lymphoproliferative mediastinal mass. (25861334)
2015
3
Molecular mechanisms of functional natural killer deficiency in patients with partial DiGeorge syndrome. (25748067)
2015
4
Association of juvenile idiopathic arthritis and digeorge syndrome; a case report. (25562032)
2014
5
Clinical and immunophenotypic features of atypical complete DiGeorge syndrome. (22978387)
2013
6
Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome. (22809661)
2012
7
MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome. (22921202)
2012
8
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (21200182)
2011
9
Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2. (20141355)
2010
10
Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndrome. (17694540)
2008
11
Hypocalcemia as a presenting feature of celiac disease in a patient with DiGeorge syndrome. (17396443)
2007
12
Three clinical cases of the DiGeorge syndrome manifested with the biliary system disease. (18175825)
2007
13
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. (16900388)
2006
14
Type III mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial DiGeorge syndrome. (17162366)
2006
15
Role of the vascular endothelial growth factor isoforms in retinal angiogenesis and DiGeorge syndrome. (16334858)
2005
16
Infant with esophageal atresia and tracheoesophageal fistula associated with DiGeorge syndrome. (15303257)
2004
17
The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. (15640691)
2004
18
Live viral vaccines in patients with DiGeorge syndrome. (15380522)
2004
19
T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome. (12060129)
2002
20
Developing models of DiGeorge syndrome. (11585671)
2001
21
Wrapping up DiGeorge syndrome in a T-box? (11518813)
2001
22
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (11713452)
2001
23
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome. (10637567)
2000
24
Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. (10766989)
2000
25
Oral findings in DiGeorge syndrome: clinical features and histologic study of primary teeth. (10673658)
2000
26
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. (10381330)
1999
27
Inflammatory response to chronic otitis media in DiGeorge syndrome: a case study using immunohistochemistry on archival temporal bone sections. (10453783)
1999
28
Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). (10440825)
1999
29
Severe truncal valve dysplasia: association with DiGeorge syndrome? (9768979)
1998
30
Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. (9463325)
1998
31
Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature. (9642643)
1998
32
DiGeorge syndrome: still an enigma. (9469991)
1998
33
Features of DiGeorge syndrome and CHARGE association in five patients. (9429139)
1997
34
Pulmonary diseases in children with severe combined immune deficiency and DiGeorge syndrome. (9407565)
1997
35
Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. (8659529)
1996
36
Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. (8733130)
1996
37
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. (7633403)
1995
38
Anomalous origin of the left main pulmonary artery from the ascending aorta associated with DiGeorge syndrome. (7778565)
1995
39
A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region. (7633437)
1995
40
Humoral immunity in DiGeorge syndrome. (7636647)
1995
41
Partial DiGeorge syndrome at the age of thirty-four. (7949642)
1994
42
DiGeorge syndrome: an historical review of clinical and cytogenetic features. (8230154)
1993
43
Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. (8268910)
1993
44
Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. (8444474)
1993
45
DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. (1747284)
1991
46
DiGeorge syndrome with hypogammaglobulinaemia: a patient with excess suppressor T cell activity treated with fetal thymus transplantation. (2744013)
1989
47
Abnormal growth of the thyroid cartilage in the DiGeorge syndrome. (3822935)
1986
48
Short trachea, with reduced number of cartilage rings--a hitherto unrecognized feature of DiGeorge syndrome. (4095043)
1985
49
Clinical and immunologic spectrum of the DiGeorge syndrome. (6973633)
1981
50
The DiGeorge syndrome. (4179863)
1969

Variations for Digeorge Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Digeorge Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TBX1p.Gly310SerVAR_034545rs41298838

Clinvar genetic disease variations for Digeorge Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TBX1NM_080647.1(TBX1): c.928G> A (p.Gly310Ser)single nucleotide variantPathogenicrs41298838GRCh37Chr 22, 19753444: 19753444

Expression for genes affiliated with Digeorge Syndrome

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Search GEO for disease gene expression data for Digeorge Syndrome.

Pathways for genes affiliated with Digeorge Syndrome

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Compounds for genes affiliated with Digeorge Syndrome

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GO Terms for genes affiliated with Digeorge Syndrome

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Biological processes related to Digeorge Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1organ morphogenesisGO:00098879.9DGCR2, DGCR6
2social behaviorGO:00351769.7TBX1, GNB1L
3anatomical structure morphogenesisGO:00096539.1CLTCL1, HIRA

Products for genes affiliated with Digeorge Syndrome

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Sources for Digeorge Syndrome

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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