MCID: DGR001
MIFTS: 67

Digeorge Syndrome malady

Immune diseases, Gastrointestinal diseases, Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases, Blood diseases categories

Summaries for Digeorge Syndrome

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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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 tetralogy of fallot, and has symptoms including vesicorenal/vesicoureteral reflux, holoprosencephaly/arhinencephaly/unique lateral ventricle and thymic aplasia/hypoplasia. 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.

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

Description from OMIM:46 188400,192430

Aliases & Classifications for Digeorge Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 27ICD9CM, 56SNOMED-CT, 39NCIt, 34MeSH, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
digeorge syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

digeorge syndrome 8 9 46 10 44 48 60
digeorge sequence 8 22 48
conotruncal anomaly face syndrome 48 60
di george's syndrome 63 20
shprintzen syndrome 48 60
cayler cardiofacial syndrome 48
22q11.2 deletion syndrome 48
pharyngeal pouch syndrome 8
velocardiofacial syndrome 48
microdeletion 22q11.2 48
sedlackova syndrome 48
digeorge's syndrome 8
takao syndrome 48
monosomy 22q11 48
catch 22 48
22q11ds 48


External Ids:

Disease Ontology8 DOID:11198
ICD9CM27 279.11
NCIt39 C2989
SNOMED-CT56 190991007, 77128003
MeSH34 D004062
SNOMED-CT via Orphanet57 449818005, 83092002, 77128003
ICD10 via Orphanet26 D82.1
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 128)
idRelated DiseaseScoreTop Affiliating Genes
1velocardiofacial syndrome31.0DGCR, CTHM, TBX1
2tetralogy of fallot30.5CLTCL1, HIRA, TBX1
3ventricular septal defect29.9CLTCL1, TBX1
4schizophrenia29.9TBX1, ARVCF, COMT
5hypoparathyroidism10.4
6situs inversus10.4
7pharyngitis10.3
8adult syndrome10.3
9charge syndrome10.3
10schizotypal personality disorder10.3
11opitz-gbbb syndrome10.3
12personality disorder10.3
13polymicrogyria10.3
14chromosome 22q11.2 deletion syndrome, distal10.3
15goldberg-shprintzen megacolon syndrome10.3
16image syndrome10.3
17sedlackova syndrome10.2
18attention deficit hyperactivity disorder10.2
19esophageal atresia10.2
20graves' disease10.2
21esophagitis10.2
22severe combined immunodeficiency10.2
23digeorge syndrome 210.2
24microcephaly10.2
25cervicitis10.1
26velocardiofacial syndrome 210.1
27generalized anxiety disorder10.1
28schizophreniform disorder10.1
29autistic disorder10.1
30corneal staphyloma10.1
31coloboma10.1
32amenorrhea10.1
33artemis deficiency10.1
34central sleep apnea10.1
35microphthalmia10.1
36juvenile rheumatoid arthritis10.1
37autoimmune hemolytic anemia10.1
38pleomorphic xanthoastrocytoma10.1
39anxiety disorder10.1
40arthritis10.1
41autism spectrum disorder10.1
42craniosynostosis10.1
43glaucoma10.1
44intellectual disability10.1
45learning disability10.1
46psychotic disorder10.1
47rheumatoid arthritis10.1
48turner syndrome10.1
49williams syndrome10.1
50congenital heart defect10.1

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



Diseases related to digeorge syndrome

Clinical Features for Digeorge Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

188400,192430

Clinical synopsis from OMIM:

188400

Symptoms:

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

Drugs & Therapeutics for Digeorge Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Digeorge Syndrome

Drug clinical trials:

Search ClinicalTrials for Digeorge Syndrome

Search NIH Clinical Center for Digeorge Syndrome

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Digeorge Syndrome:

32
T cells, Heart, Thymus, Kidney, Bone, Testes, Uterus, Bone marrow, Brain, Liver, Thyroid, Endothelial, B cells, Trachea, Pancreas, Smooth muscle, Myeloid, Lung, Eye

Animal Models for Digeorge Syndrome or affiliated genes

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Publications for Digeorge Syndrome

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Sources:
50PubMed
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Articles related to Digeorge Syndrome:

(show top 50)    (show all 386)
idTitleAuthorsYear
1
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
2
Autoimmune thrombocytopenic purpura in partial DiGeorge syndrome: case presentation. (21792043)
2011
3
DiGeorge Syndrome: a not so rare disease. (21049214)
2010
4
Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1. (20215350)
2010
5
Dental aspects in patients with DiGeorge syndrome. (20614041)
2010
6
DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome. (17712990)
2007
7
Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome. (16930005)
2006
8
SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome. (16491384)
2006
9
Role of the vascular endothelial growth factor isoforms in retinal angiogenesis and DiGeorge syndrome. (16334858)
2005
10
Post-natal ontogenesis of the T-cell receptor CD4 and CD8 Vbeta repertoire and immune function in children with DiGeorge syndrome. (15981092)
2005
11
Unilateral Peters' anomaly in a patient with DiGeorge syndrome. (16250223)
2005
12
DiGeorge syndrome: an update. (15096950)
2004
13
Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome. (15100156)
2004
14
A cohort study of neurodevelopmental outcome in children with DiGeorge syndrome following cardiac surgery. (12495965)
2003
15
Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. (12705904)
2003
16
Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. (12702512)
2003
17
22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome. (12175881)
2002
18
RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction. (11804793)
2002
19
Embryonic expression of Tbx1, a DiGeorge syndrome candidate gene, in the lamprey Lampetra fluviatilis. (12617845)
2002
20
Hypocalcemic tetany as an early sign of DiGeorge syndrome in an adult woman. (11835963)
2002
21
Wrapping up DiGeorge syndrome in a T-box? (11518813)
2001
22
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. (11709542)
2001
23
Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. (10766989)
2000
24
Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome. (10940632)
2000
25
Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: a case report and review of the literature. (10593557)
1999
26
Interruption of the aortic arch at the isthmus with DiGeorge syndrome and 22q11.2 deletion. (10535835)
1999
27
Getting to the heart of DiGeorge syndrome. (10502806)
1999
28
Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. (9463325)
1998
29
Complete DiGeorge syndrome: persistence of profound immunodeficiency. (9469994)
1998
30
Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance. (9511978)
1998
31
ES2, 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)
1998
32
DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case. (9401184)
1997
33
Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. (8659529)
1996
34
Should the 3C (craniocerebellocardiac) syndrome be included in the spectrum of velocardiofacial syndrome and DiGeorge sequence? (8863172)
1996
35
Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. (7655455)
1995
36
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. (7783179)
1995
37
Velocardiofacial syndrome and DiGeorge sequence. (8064827)
1994
38
DiGeorge syndrome: an historical review of clinical and cytogenetic features. (8230154)
1993
39
Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. (8444474)
1993
40
Unmasking of latent hypoparathyroidism in a child with partial DiGeorge syndrome by ethylenediaminetetraacetic acid infusion. (8482280)
1993
41
Pathology of the liver in severe combined immunodeficiency and DiGeorge syndrome. (8372033)
1993
42
Molecular studies of DiGeorge syndrome. (2339689)
1990
43
DiGeorge syndrome in a child with partial monosomy of chromosome 22. (2711536)
1989
44
Aplastic anaemia complicating adenovirus infection in DiGeorge syndrome. (2846310)
1988
45
Abnormal growth of the thyroid cartilage in the DiGeorge syndrome. (3822935)
1986
46
Induction of E-rosette-promoting factor in human plasma by levamisole: an assessment in a patient with partial DiGeorge syndrome. (6980445)
1982
47
Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome. (7243440)
1981
48
The spectrum of the DiGeorge syndrome. (448529)
1979
49
Partial DiGeorge syndrome or branchial dysembryogenesis. (998584)
1976
50
Combined system immunodeficiency with Digeorge syndrome and dissociation of PHA-MLC responses. (4277412)
1973

Genetic Variations for Digeorge Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Digeorge Syndrome:

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

Expression for genes affiliated with Digeorge Syndrome

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1BioGPS, 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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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Digeorge Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1bupropion44 49 11 2413.4ARVCF, COMT

GO Terms for genes affiliated with Digeorge Syndrome

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16Gene Ontology
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Biological processes related to Digeorge Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1social behaviorGO:03517610.4TBX1, GNB1L
2anatomical structure morphogenesisGO:00965310.1GSC2, CLTCL1, HIRA, MRPL40, LZTR1
3cell adhesionGO:00715510.0DGCR6, DGCR2, ARVCF, GP1BB

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet