MCID: DGR001
MIFTS: 67

Digeorge Syndrome malady

Genetic diseases, Immune diseases, Gastrointestinal diseases, Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases, Blood diseases, Rare diseases categories
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Summaries for Digeorge Syndrome

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 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.

MalaCards: Digeorge Syndrome, also known as digeorge sequence, is related to velocardiofacial syndrome and hypoparathyroidism, and has symptoms including hypospadias/epispadias/bent penis, acute arterial hypertension/hypertensive crisis and varices/varicous veins/venous insufficiency. An important gene associated with Digeorge Syndrome is DGCR (DiGeorge syndrome chromosome region). The compound bupropion have been mentioned in the context of this disorder. Affiliated tissues include t cells, heart and thymus, and related mouse phenotype no phenotypic analysis.

Wikipedia:65 22q11.2 deletion syndrome which has several presentations including DiGeorge syndrome (DGS), DiGeorge... more...

Description from OMIM:47 188400,192430

Aliases & Classifications for Digeorge Syndrome

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Sources:
49Orphanet, 62UMLS, 8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 45Novoseek, 22GTR, 65Wikipedia, 20GeneTests, 58SNOMED-CT, 35MeSH, 40NCIt, 27ICD9CM, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 36MESH via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
digeorge syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

digeorge syndrome 8 9 47 10 45 49 62
digeorge sequence 8 22 49
conotruncal anomaly face syndrome 49 62
di george's syndrome 65 20
shprintzen syndrome 49 62
cayler cardiofacial syndrome 49
22q11.2 deletion syndrome 49
velocardiofacial syndrome 49
pharyngeal pouch syndrome 8
microdeletion 22q11.2 49
digeorge's syndrome 8
sedlackova syndrome 49
monosomy 22q11 49
takao syndrome 49
catch 22 49
22q11ds 49


External Ids:

Disease Ontology8 DOID:11198
MeSH35 D004062
NCIt40 C2989
ICD9CM27 279.11
SNOMED-CT58 77128003, 190991007
SNOMED-CT via Orphanet59 449818005, 83092002, 77128003
ICD10 via Orphanet26 D82.1
MESH via Orphanet36 D058165
UMLS via Orphanet63 C2936346, C3266101, C0012236 C0220704, C0795907, more
ICD1025 D82.1, Q38.7

Related Diseases for Digeorge Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Digeorge Syndrome family:

Digeorge Syndrome 2

Diseases related to Digeorge Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1velocardiofacial syndrome31.1CTHM, TBX1
2hypoparathyroidism30.7TBX1, DGCR2
3congenital heart disease30.6TBX1, COMT
4tetralogy of fallot30.6TBX1, CTHM, CLTCL1, HIRA
5ventricular septal defect30.1TBX1, CLTCL1
6schizophrenia29.9ARVCF, TBX1, COMT
7situs inversus10.4
8pharyngitis10.3
9schizotypal personality disorder10.3
10opitz-gbbb syndrome10.3
11personality disorder10.3
12polymicrogyria10.3
13chromosome 22q11.2 deletion syndrome, distal10.3
14goldberg-shprintzen megacolon syndrome10.3
15attention deficit hyperactivity disorder10.3
16esophageal atresia10.2
17graves' disease10.2
18esophagitis10.2
19severe combined immunodeficiency10.2
20digeorge syndrome 210.2
21monosomy 2210.2
22right aortic arch10.2
23microcephaly10.2
24arthritis10.2
25cervicitis10.2
26velocardiofacial syndrome 210.2
27artemis deficiency10.2
28central sleep apnea10.2
29microphthalmia10.2
30autoimmune hemolytic anemia10.2
31schizophreniform disorder10.2
32corneal staphyloma10.2
33amenorrhea10.2
34pleomorphic xanthoastrocytoma10.2
35generalized anxiety disorder10.2
36autism spectrum disorder10.2
37craniosynostosis10.2
38glaucoma10.2
39intellectual disability10.2
40learning disability10.2
41psychotic disorder10.2
42sleep apnea10.2
43rhabdoid tumor10.2
44persistent fifth aortic arch10.2
45shprintzen-goldberg syndrome10.2
46rubella10.2
47measles10.2
48mumps10.2
49influenza10.2
50pneumonia10.2

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



Diseases related to digeorge syndrome

Symptoms for Digeorge Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

188400

Clinical features from OMIM:

188400,192430

Symptoms:

49 (show all 98)
  • hypospadias/epispadias/bent penis
  • acute arterial hypertension/hypertensive crisis
  • varices/varicous veins/venous insufficiency
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • polycystic kidneys
  • vesicorenal/vesicoureteral reflux
  • uterine/uterus/fallopian tubes anomalies
  • patent ductus arteriosus
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • tricuspid valve atresia/stenosis/narrowing
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • encopresis/fecal incontinence
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • splenomegaly
  • asthma/bronchospasm
  • atelectasia/pulmonary collapse
  • chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypothyroidy
  • patella dislocation
  • autoimmunity/autoimmune reaction/autoantibodies
  • platelet disorders/thrombopathies
  • thrombocytopenia/thrombopenia
  • early death/lethality
  • stillbirth/neonatal death
  • intrauterine growth retardation
  • atrial septal defect/interauricular communication
  • arthritis/synovitis/synovial proliferation
  • psychosis/schizophrenia/maniac disorder
  • hyperthyroidy
  • spina bifida
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • autism/autistic disoders
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • facial dysmorphism
  • aortic arches anomalies
  • thymic aplasia/hypoplasia
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autosomal dominant inheritance
  • long face
  • flat cheek bones/malar hypoplasia
  • anomalies of eyelids, eyelashes and lacrimal system
  • ptosis
  • anomalies of teeth and dentition
  • multiple caries
  • ventricular septal defect/interventricular communication
  • common arterial trunk/truncal valve
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • epicanthic folds
  • telecanthus/canthal dystopy
  • long/large/bulbous nose
  • high nasal bridge
  • cleft lip and palate
  • low set ears/posteriorly rotated ears
  • anomaly of the pharynx/pharyngeal anomaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • pulmonary valve atresia/stenosis/narrowing
  • congenital cardiac anomaly/malformation/cardiopathy
  • tetralogy of fallot/trilogy of fallot
  • folded helix
  • small/hypoplastic/adherent/absent ear lobe
  • hearing loss/hypoacusia/deafness
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • cataract/lens opacification
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • strabismus/squint
  • enamel anomaly
  • anomalies of chest/thorax/trunk
  • umbilical hernia
  • upper limb polydactyly/hexadactyly
  • polydactyly of toes
  • purpura/petichiae
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • intestinal/gut/bowel malrotation
  • micrognathia/retrognathia/micrognathism/retrognathism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • chronic/relapsing otitis
  • short neck
  • seborrhea/hyperseborrhea/seborrheic dermatitis
  • acne/acnea
  • constipation
  • renal/kidney anomalies
  • hypoparathyroidy
  • hyperactivity/attention deficit
  • hypocalcemia
  • microcephaly
  • craniostenosis/craniosynostosis/sutural synostosis
  • hypertelorism
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula

Drugs & Therapeutics for Digeorge Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Digeorge Syndrome

Search NIH Clinical Center for Digeorge Syndrome

Genetic Tests for Digeorge Syndrome

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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Digeorge Syndrome:

33
T cells, Heart, Thymus, Kidney, Bone, Testes, Uterus, Bone marrow, Thyroid, Liver, B cells, Endothelial, Eye, Trachea, Brain, Smooth muscle, Lung, Pancreas

Animal Models for Digeorge Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Digeorge Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.3ARVCF, DGCR2, DGCR14, TSSK2, HIRA

Publications for Digeorge Syndrome

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52PubMed
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Articles related to Digeorge Syndrome:

(show top 50)    (show all 339)
idTitleAuthorsYear
1
Clinical and immunophenotypic features of atypical complete DiGeorge syndrome. (22978387)
2013
2
Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome. (22809661)
2012
3
MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome. (22921202)
2012
4
Genetic modifier to chromatin may contribute to 22q11 deletion/VCF/DiGeorge syndrome variability: MOZ gene may also exacerbate effects of retinoic acid in genetic disorder. (23174944)
2012
5
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (21200182)
2011
6
Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2. (20141355)
2010
7
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
8
Hypocalcemia as a presenting feature of celiac disease in a patient with DiGeorge syndrome. (17396443)
2007
9
Three clinical cases of the DiGeorge syndrome manifested with the biliary system disease. (18175825)
2007
10
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. (16900388)
2006
11
Type III mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial DiGeorge syndrome. (17162366)
2006
12
Role of the vascular endothelial growth factor isoforms in retinal angiogenesis and DiGeorge syndrome. (16334858)
2005
13
Infant with esophageal atresia and tracheoesophageal fistula associated with DiGeorge syndrome. (15303257)
2004
14
Live viral vaccines in patients with DiGeorge syndrome. (15380522)
2004
15
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. (15190012)
2004
16
T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome. (12060129)
2002
17
Developing models of DiGeorge syndrome. (11585671)
2001
18
Wrapping up DiGeorge syndrome in a T-box? (11518813)
2001
19
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (11713452)
2001
20
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome. (10637567)
2000
21
Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. (10766989)
2000
22
Oral findings in DiGeorge syndrome: clinical features and histologic study of primary teeth. (10673658)
2000
23
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. (10381330)
1999
24
Inflammatory response to chronic otitis media in DiGeorge syndrome: a case study using immunohistochemistry on archival temporal bone sections. (10453783)
1999
25
Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). (10440825)
1999
26
Severe truncal valve dysplasia: association with DiGeorge syndrome? (9768979)
1998
27
Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. (9463325)
1998
28
Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature. (9642643)
1998
29
DiGeorge syndrome: still an enigma. (9469991)
1998
30
Complete-type DiGeorge syndrome treated by bone marrow transplantation. (9827824)
1998
31
Features of DiGeorge syndrome and CHARGE association in five patients. (9429139)
1997
32
Pulmonary diseases in children with severe combined immune deficiency and DiGeorge syndrome. (9407565)
1997
33
Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. (8659529)
1996
34
Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. (8733130)
1996
35
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
36
Anomalous origin of the left main pulmonary artery from the ascending aorta associated with DiGeorge syndrome. (7778565)
1995
37
A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region. (7633437)
1995
38
Humoral immunity in DiGeorge syndrome. (7636647)
1995
39
Partial DiGeorge syndrome at the age of thirty-four. (7949642)
1994
40
DiGeorge syndrome: an historical review of clinical and cytogenetic features. (8230154)
1993
41
Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. (8268910)
1993
42
Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. (8444474)
1993
43
Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. (8406492)
1993
44
DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. (1747284)
1991
45
DiGeorge syndrome with hypogammaglobulinaemia: a patient with excess suppressor T cell activity treated with fetal thymus transplantation. (2744013)
1989
46
Abnormal growth of the thyroid cartilage in the DiGeorge syndrome. (3822935)
1986
47
Short trachea, with reduced number of cartilage rings--a hitherto unrecognized feature of DiGeorge syndrome. (4095043)
1985
48
Clinical and immunologic spectrum of the DiGeorge syndrome. (6973633)
1981
49
The spectrum of the DiGeorge syndrome. (448529)
1979
50
The DiGeorge syndrome. (4179863)
1969

Variations for Digeorge Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Digeorge Syndrome:

64
id Symbol AA change Variation ID SNP ID
1TBX1p.Gly310SerVAR_034545rs41298838

Clinvar genetic disease variations for Digeorge Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1TBX1NM_080647.1(TBX1): c.928G> A (p.Gly310Ser)single nucleotide variantPathogenicrs41298838GRCh37Chr 22, 19753444: 19753444
2TBX1NM_080647.1(TBX1): c.582C> G (p.His194Gln)single nucleotide variantPathogenicrs74315522GRCh37Chr 22, 19751747: 19751747

Expression for genes affiliated with Digeorge Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Digeorge Syndrome

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Pathways for genes affiliated with Digeorge Syndrome

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Compounds for genes affiliated with Digeorge Syndrome

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51PharmGKB, 45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Digeorge Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1bupropion51 45 24 1113.1ARVCF, COMT

GO Terms for genes affiliated with Digeorge Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056348.1ARVCF, DGCR6L, DGCR14, DGCR6, DGCR8, TBX1

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

idNameGO IDScoreTop Affiliating Genes
1social behaviorGO:0351769.7TBX1, GNB1L
2regulation of transcription from RNA polymerase II promoterGO:0063579.6HIRA, GSC2, TBX1
3anatomical structure morphogenesisGO:0096539.5HIRA, CLTCL1, GSC2
4cell adhesionGO:0071559.5GP1BB, ARVCF, DGCR2, DGCR6

Products for genes affiliated with Digeorge Syndrome

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  • Antibodies
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  • Antibodies

Sources for Digeorge Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet