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 acute arterial hypertension/hypertensive crisis, varices/varicous veins/venous insufficiency and agenesis/hypoplasia/aplasia of kidneys. 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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46OMIM, 48Orphanet
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Clinical features from OMIM:

188400,192430

Clinical synopsis from OMIM:

188400

Symptoms:

48 (show all 98)
  • acute arterial hypertension/hypertensive crisis
  • varices/varicous veins/venous insufficiency
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • uterine/uterus/fallopian tubes anomalies
  • polycystic kidneys
  • vesicorenal/vesicoureteral reflux
  • hypospadias/epispadias/bent penis
  • 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
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • stillbirth/neonatal death
  • intrauterine growth retardation
  • atrial septal defect/interauricular communication
  • arthritis/synovitis/synovial proliferation
  • early death/lethality
  • 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
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychosis/schizophrenia/maniac disorder
  • facial dysmorphism
  • 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
  • folded helix
  • aortic arches anomalies
  • 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
  • small/hypoplastic/adherent/absent ear lobe
  • hearing loss/hypoacusia/deafness
  • 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
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • 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
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia

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, Thyroid, Brain, Liver, B cells, Endothelial, Lung, Eye, Myeloid, Trachea, Smooth muscle, Pancreas

Animal Models for Digeorge Syndrome or affiliated genes

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Publications for Digeorge Syndrome

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50PubMed
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Articles related to Digeorge Syndrome:

(show top 50)    (show all 386)
idTitleAuthorsYear
1
Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. (23454892)
2013
2
Treatable cause of ventricular dysfunction in DiGeorge syndrome. (24096847)
2013
3
The core microprocessor component DiGeorge syndrome critical region 8 (DGCR8) is a nonspecific RNA-binding protein. (23893406)
2013
4
Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1. (22396765)
2012
5
Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. (19040613)
2009
6
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
7
Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: an eight-year follow-up. (18515186)
2008
8
Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome). (17355478)
2007
9
Complete DiGeorge syndrome associated with CHD7 mutation. (17931565)
2007
10
Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. (17041934)
2006
11
antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome). (16595601)
2006
12
Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome. (16251458)
2005
13
DiGeorge syndrome associated with solitary median maxillary central incisor. (16252847)
2005
14
Infant with esophageal atresia and tracheoesophageal fistula associated with DiGeorge syndrome. (15303257)
2004
15
Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. (15100681)
2004
16
The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome. (12810603)
2003
17
Esophageal atresia and tracheo-esophageal fistula in a patient with Digeorge syndrome. (12891520)
2003
18
Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. (12563036)
2003
19
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. (11242111)
2001
20
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. (11239417)
2001
21
High-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)
2001
22
Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. (11412027)
2001
23
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome. (10637567)
2000
24
Fatal aspergillosis with brain abscesses in a neonate with DiGeorge syndrome. (11144390)
2000
25
DiGeorge syndrome: complex pathogenesis? Maybe, maybe not. (10637568)
2000
26
Thrombocytopenia after human herpesvirus-7 infection in a patient with DiGeorge syndrome. (10206468)
1999
27
A novel 22q11.2 microdeletion in DiGeorge syndrome. (9973528)
1999
28
Ubiquitination gene defect found in DiGeorge syndrome. (10366814)
1999
29
DiGeorge syndrome: still an enigma. (9469991)
1998
30
Features of DiGeorge syndrome and CHARGE association in five patients. (9429139)
1997
31
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). (9082929)
1997
32
Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association. (9407570)
1997
33
A 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)
1997
34
Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. (8660975)
1996
35
Absent pulmonary valve syndrome associated with DiGeorge syndrome: report of one case. (8942031)
1996
36
Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans. (8703114)
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
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. (7670464)
1995
39
Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion. (7473663)
1995
40
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. (1349199)
1992
41
Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11. (1617213)
1992
42
A prospective cytogenetic study of 36 cases of DiGeorge syndrome. (1415264)
1992
43
Ossification centre of the hyoid bone in DiGeorge syndrome and tetralogy of Fallot. (3790891)
1986
44
DiGeorge syndrome and 22q11 rearrangements. (3770751)
1986
45
Severe combined immunodeficiencies, primary T-cell defects and DiGeorge syndrome in humans: characterization by monoclonal antibodies and natural killer cell activity. (6349883)
1983
46
A deletion in chromosome 22 can cause DiGeorge syndrome. (7250965)
1981
47
Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus). (7426208)
1980
48
Familial thymic aplasia with intrauterine growth retardation and fetal death: a new syndrome or a variant of DiGeorge syndrome. (974247)
1976
49
Immunologic reconstitution in the DiGeorge syndrome by fetal thymic transplant. (1148386)
1975
50
The DiGeorge syndrome. (4179863)
1969

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

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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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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  • Antibodies

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