MCID: DGR001
MIFTS: 60

Digeorge Syndrome malady

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

Summaries for Digeorge Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 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 ventricular septal defect, and has symptoms including hypertelorism, flat cheek bones/malar hypoplasia and low set ears/posteriorly rotated ears. 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 liver, spinal cord and brain.

Wikipedia:64 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

Sources:
8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 22GTR, 64Wikipedia, 20GeneTests, 27ICD9CM, 57SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

digeorge syndrome 8 9 47 10 45 49 61
digeorge sequence 8 22 49
conotruncal anomaly face syndrome 49 61
di george's syndrome 64 20
shprintzen syndrome 49 61
cayler cardiofacial syndrome 49
pharyngeal pouch syndrome 8
velocardiofacial syndrome 49
22q11.2 deletion syndrome 49
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
ICD9CM27 279.11
NCIt40 C2989
SNOMED-CT57 190991007, 77128003
MeSH35 D004062
ICD10 via Orphanet26 D82.1
ICD1025 D82.1, Q38.7

Related Diseases for Digeorge Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 138)
idRelated DiseaseScoreTop Affiliating Genes
1velocardiofacial syndrome31.0DGCR, CTHM, TBX1
2ventricular septal defect29.9CLTCL1, TBX1
3digeorge syndrome 210.9
4n syndrome10.8
5chromosome 22q deletion10.6
6micro syndrome10.6
7velocardiofacial syndrome 210.6
8arc syndrome10.5
9char syndrome10.5
10hypoparathyroidism10.4
11adult syndrome10.4
12shprintzen-goldberg syndrome10.4
13situs inversus10.4
14charge syndrome10.3
15schizotypal personality disorder10.3
16opitz-gbbb syndrome10.3
17polymicrogyria10.3
18chromosome 22q11.2 deletion syndrome, distal10.3
19hirschsprung's disease10.3
20goldberg-shprintzen megacolon syndrome10.3
21attention deficit hyperactivity disorder10.2
22esophageal atresia10.2
23graves' disease10.2
24microcephaly10.2
25sedlackova syndrome10.2
26arthritis10.2
27generalized anxiety disorder10.1
28schizophreniform disorder10.1
29autistic disorder10.1
30corneal staphyloma10.1
31amenorrhea10.1
32artemis deficiency10.1
33central sleep apnea10.1
34microphthalmia10.1
35autoimmune hemolytic anemia10.1
36conn's syndrome10.1
37pleomorphic xanthoastrocytoma10.1
38autism spectrum disorder10.1
39thyroiditis10.1
40glaucoma, congenital10.1
41rhabdoid tumor10.1
42thrombocytopenia 210.1
43sleep apnea10.1
44refractory anemia10.1
45rubella10.1
46antiphospholipid syndrome10.1
47measles10.1
48aorta atresia10.1
49mumps10.1
50thrombocytopenia10.1

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



Diseases related to digeorge syndrome

Clinical Features for Digeorge Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

188400,192430

Clinical synopsis from OMIM:

188400

Symptoms:

49 (show all 98)
  • hypertelorism
  • 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
  • encopresis/fecal incontinence
  • hypothyroidy
  • hypotonia
  • early death/lethality
  • 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
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • abnormal cry/voice/phonation disorder/nasal speech
  • 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
  • hyperactivity/attention deficit
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • autism/autistic disoders
  • 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
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • 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
  • cleft lip and palate
  • tetralogy of fallot/trilogy of fallot
  • uterine/uterus/fallopian tubes anomalies
  • vesicorenal/vesicoureteral reflux
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • thymic aplasia/hypoplasia
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • anomaly of the pharynx/pharyngeal anomaly
  • pulmonary valve atresia/stenosis/narrowing
  • common arterial trunk/truncal valve
  • ventricular septal defect/interventricular communication
  • aortic arches anomalies
  • 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
  • asthma/bronchospasm
  • atelectasia/pulmonary collapse
  • tricuspid valve atresia/stenosis/narrowing
  • acute arterial hypertension/hypertensive crisis
  • varices/varicous veins/venous insufficiency
  • hypospadias/epispadias/bent penis
  • spina bifida
  • patella dislocation
  • platelet disorders/thrombopathies

Drugs & Therapeutics for Digeorge Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Digeorge Syndrome:

id Genetic test Affiliating Genes
1 Digeorge Syndrome20
2 Digeorge Sequence22

Anatomical Context for Digeorge Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Digeorge Syndrome:

33
Liver, Spinal cord, Brain, Kidney, Lung, Bone marrow, Thymus, Heart, Smooth muscle, Pancreas, Thyroid, Myeloid, T cells, B cells, Endothelial, Fetal brain, Fetal liver, Fetal lung, Trachea, Fetal thyroid

Animal Models for Digeorge Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Digeorge Syndrome

Sources:
51PubMed
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Articles related to Digeorge Syndrome:

(show top 50)    (show all 391)
idTitleAuthorsYear
1
Clinical and immunophenotypic features of atypical complete DiGeorge syndrome. (22978387)
2013
2
DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood. (23762078)
2013
3
Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. (23454892)
2013
4
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (21200182)
2011
5
Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. (21835443)
2011
6
A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome). (21863400)
2011
7
Hypocalcemia impacts heart failure control in DiGeorge 2 syndrome. (18795911)
2009
8
Seizures and EEG findings in an adult patient with DiGeorge syndrome: a case report and review of the literature. (19665396)
2009
9
A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome. (20162873)
2009
10
Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. (19040613)
2009
11
Development of specific T-cell responses to Candida and tetanus antigens in partial DiGeorge syndrome. (18789819)
2008
12
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. (18179902)
2008
13
DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood. (18956803)
2008
14
Complete DiGeorge syndrome associated with CHD7 mutation. (17931565)
2007
15
Long-term results of bone marrow transplantation in complete DiGeorge syndrome. (17931564)
2007
16
Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). (16846458)
2006
17
DiGeorge syndrome and pharyngeal apparatus development. (17041894)
2006
18
Inactivation of TGFbeta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome. (15741317)
2005
19
DiGeorge syndrome associated with solitary median maxillary central incisor. (16252847)
2005
20
Live viral vaccines in patients with partial DiGeorge syndrome: clinical experience and cellular immunity. (15207787)
2004
21
Esophageal atresia and tracheo-esophageal fistula in a patient with Digeorge syndrome. (12891520)
2003
22
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome. (12634857)
2003
23
DiGeorge syndrome: the use of model organisms to dissect complex genetics. (12351571)
2002
24
Developing models of DiGeorge syndrome. (11585671)
2001
25
22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. (11801894)
2001
26
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. (11242110)
2001
27
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
28
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. (10381330)
1999
29
Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). (10440825)
1999
30
Transplantation of thymus tissue in complete DiGeorge syndrome. (10523153)
1999
31
Molecular genetic analysis of the DiGeorge syndrome among Korean patients with congenital heart disease. (10102575)
1999
32
Thrombocytopenia after human herpesvirus-7 infection in a patient with DiGeorge syndrome. (10206468)
1999
33
Partial DiGeorge syndrome in two patients with a 10p rearrangement. (10361989)
1999
34
ZNF74, a gene deleted in DiGeorge syndrome, is expressed in human neural crest-derived tissues and foregut endoderm epithelia. (10585771)
1999
35
Severe truncal valve dysplasia: association with DiGeorge syndrome? (9768979)
1998
36
Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome. (9129733)
1997
37
Normalization of the peripheral blood T cell receptor V beta repertoire after cultured postnatal human thymic transplantation in DiGeorge syndrome. (9083893)
1997
38
Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. (8923941)
1996
39
A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. (8776594)
1996
40
Humoral immunity in DiGeorge syndrome. (7636647)
1995
41
Digeorge syndrome with total monosomy 22 diagnosed prenatally. (7784374)
1995
42
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. (7670464)
1995
43
Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion. (7473663)
1995
44
Upper limb malformations in DiGeorge syndrome. (7747784)
1995
45
DiGeorge syndrome after in vitro fertilization. (8003883)
1993
46
Successful bone marrow transplantation with split lymphoid chimerism in DiGeorge syndrome. (2621243)
1989
47
Hypoparathyroidism and the DiGeorge syndrome. (2710180)
1989
48
DiGeorge syndrome and 22q11 rearrangements. (3770751)
1986
49
DiGeorge syndrome presenting as severe congenital heart disease in the newborn. (608163)
1977
50
Temporal bone findings in the third and fourth pharyngeal pouch (DiGeorge) syndrome. (4854619)
1974

Genetic Variations for Digeorge Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Digeorge Syndrome:

63
id Symbol AA change Variation SNP ID
1TBX1p.Gly310SerVAR_034545rs41298838

Expression for genes affiliated with Digeorge Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Digeorge Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
See all sources

Compounds related to Digeorge Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1bupropion45 50 11 2413.4ARVCF, COMT

GO Terms for genes affiliated with Digeorge Syndrome

Sources:
16Gene Ontology
See all sources

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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  • Proteins
  • Lysates
  • Antibodies

Sources for Digeorge Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet