MCID: DGR001
MIFTS: 67

Digeorge Syndrome malady

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

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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 based summary: Digeorge Syndrome, also known as digeorge sequence, is related to velocardiofacial syndrome and hypoparathyroidism, and has symptoms including facial dysmorphism, upslanted palpebral fissures/mongoloid slanting palpebral fissures and epicanthic folds. 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...

Descriptions from OMIM:46 188400,192430

Aliases & Classifications for Digeorge Syndrome

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Sources:
48Orphanet, 62UMLS, 8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 44Novoseek, 22GTR, 65Wikipedia, 20GeneTests, 57SNOMED-CT, 34MeSH, 27ICD9CM, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Digeorge Syndrome, Aliases & Descriptions:

Name: Digeorge Syndrome 8 9 46 10 44 48 62
Digeorge Sequence 8 22 48
Conotruncal Anomaly Face Syndrome 48 62
22q11.2 Deletion Syndrome 48 62
Pharyngeal Pouch Syndrome 8 62
Di George's Syndrome 65 20
Shprintzen Syndrome 48 62
Sedlackova Syndrome 48 62
Cayler Cardiofacial Syndrome 48
 
Velo-Cardio-Facial Syndrome 62
Velocardiofacial Syndrome 48
Microdeletion 22q11.2 48
Digeorge's Syndrome 8
Monosomy 22q11 48
Takao Syndrome 48
Catch 22 48
22q11ds 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:11198
MeSH34 D004062
ICD9CM27 279.11
NCIt39 C2989
SNOMED-CT57 190991007, 77128003
MESH via Orphanet35 D058165
ICD10 via Orphanet26 D82.1
UMLS via Orphanet63 C0012236, C0220704, C0795907 C2936346, C3266101, more
ICD1025 Q38.7

Related Diseases for Digeorge Syndrome

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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 139)
idRelated DiseaseScoreTop Affiliating Genes
1velocardiofacial syndrome31.2CTHM, TBX1
2hypoparathyroidism31.0TBX1, DGCR2
3congenital heart disease30.8TBX1, COMT
4tetralogy of fallot30.5TBX1, CTHM, CLTCL1, HIRA
5ventricular septal defect30.4TBX1, CLTCL1
6schizophrenia29.7ARVCF, TBX1, COMT
7opitz-gbbb syndrome10.4
8situs inversus10.4
9pharyngitis10.4
10schizotypal personality disorder10.3
11personality disorder10.3
12polymicrogyria10.3
13chromosome 22q11.2 deletion syndrome, distal10.3
14goldberg-shprintzen megacolon syndrome10.3
15attention deficit hyperactivity disorder10.3
16severe combined immunodeficiency10.3
17graves' disease10.3
18esophageal atresia10.3
19esophagitis10.3
20digeorge syndrome/velocardiofacial syndrome complex-210.3
21monosomy 2210.3
22right aortic arch10.3
23microcephaly10.2
24mowat-wilson syndrome10.2
25arthritis10.2
26cervicitis10.2
27velocardiofacial syndrome 210.2
28craniosynostosis10.2
29generalized anxiety disorder10.2
30amenorrhea10.2
31central sleep apnea10.2
32corneal staphyloma10.2
33pleomorphic xanthoastrocytoma10.2
34artemis deficiency10.2
35microphthalmia10.2
36schizophreniform disorder10.2
37acute disseminated encephalomyelitis10.2
38autism spectrum disorder10.2
39learning disability10.2
40psychotic disorder10.2
41sleep apnea10.2
42rhabdoid tumor10.2
43persistent fifth aortic arch10.2
44shprintzen-goldberg syndrome10.2
45hemolytic anemia10.2
46thrombocytopenia10.2
47mumps10.2
48rubella10.2
49measles10.2
50influenza10.2

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



Diseases related to digeorge syndrome

Symptoms for Digeorge Syndrome

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Symptoms by clinical synopsis from OMIM:

188400

Clinical features from OMIM:

188400,192430

Symptoms:

48 (show all 98)
  • facial dysmorphism
  • 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
  • common arterial trunk/truncal valve
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • 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
  • folded helix
  • small/hypoplastic/adherent/absent ear lobe
  • hearing loss/hypoacusia/deafness
  • 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
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • micrognathia/retrognathia/micrognathism/retrognathism
  • 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
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • 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
  • tricuspid valve atresia/stenosis/narrowing
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • patent ductus arteriosus
  • 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
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypothyroidy
  • 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
  • arthritis/synovitis/synovial proliferation
  • patella dislocation
  • autoimmunity/autoimmune reaction/autoantibodies
  • platelet disorders/thrombopathies
  • thrombocytopenia/thrombopenia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • early death/lethality
  • stillbirth/neonatal death
  • intrauterine growth retardation

HPO human phenotypes related to Digeorge Syndrome:

(show all 133)
id Description Frequency HPO Source Accession
1 oral cleft hallmark (90%) HP:0000202
2 epicanthus hallmark (90%) HP:0000286
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 prominent nasal bridge hallmark (90%) HP:0000426
5 telecanthus hallmark (90%) HP:0000506
6 upslanted palpebral fissure hallmark (90%) HP:0000582
7 abnormality of the pharynx hallmark (90%) HP:0000600
8 muscular hypotonia hallmark (90%) HP:0001252
9 abnormality of the voice hallmark (90%) HP:0001608
10 ventricular septal defect hallmark (90%) HP:0001629
11 defect in the atrial septum hallmark (90%) HP:0001631
12 tetralogy of fallot hallmark (90%) HP:0001636
13 abnormality of the pulmonary valve hallmark (90%) HP:0001641
14 truncus arteriosus hallmark (90%) HP:0001660
15 abnormality of the aorta hallmark (90%) HP:0001679
16 neurological speech impairment hallmark (90%) HP:0002167
17 abnormal nasal morphology hallmark (90%) HP:0005105
18 aplasia/hypoplasia of the thymus hallmark (90%) HP:0010515
19 long face typical (50%) HP:0000276
20 hearing impairment typical (50%) HP:0000365
21 otitis media typical (50%) HP:0000388
22 overfolded helix typical (50%) HP:0000396
23 short neck typical (50%) HP:0000470
24 ptosis typical (50%) HP:0000508
25 carious teeth typical (50%) HP:0000670
26 hypoparathyroidism typical (50%) HP:0000829
27 seborrheic dermatitis typical (50%) HP:0001051
28 acne typical (50%) HP:0001061
29 constipation typical (50%) HP:0002019
30 hypocalcemia typical (50%) HP:0002901
31 attention deficit hyperactivity disorder typical (50%) HP:0007018
32 aplasia/hypoplasia of the earlobes typical (50%) HP:0009906
33 cheekbone underdevelopment typical (50%) HP:0010669
34 acne 23% HP:0001061
35 schizophrenia 22% HP:0100753
36 multicystic kidney dysplasia occasional (7.5%) HP:0000003
37 abnormality of female internal genitalia occasional (7.5%) HP:0000008
38 cryptorchidism occasional (7.5%) HP:0000028
39 vesicoureteral reflux occasional (7.5%) HP:0000076
40 polycystic kidney dysplasia occasional (7.5%) HP:0000113
41 microcephaly occasional (7.5%) HP:0000252
42 hypertelorism occasional (7.5%) HP:0000316
43 micrognathia occasional (7.5%) HP:0000347
44 strabismus occasional (7.5%) HP:0000486
45 downslanted palpebral fissures occasional (7.5%) HP:0000494
46 cataract occasional (7.5%) HP:0000518
47 optic atrophy occasional (7.5%) HP:0000648
48 abnormality of dental enamel occasional (7.5%) HP:0000682
49 autism occasional (7.5%) HP:0000717
50 abnormality of the thorax occasional (7.5%) HP:0000765
51 hypothyroidism occasional (7.5%) HP:0000821
52 hyperthyroidism occasional (7.5%) HP:0000836
53 biliary tract abnormality occasional (7.5%) HP:0001080
54 hand polydactyly occasional (7.5%) HP:0001161
55 seizures occasional (7.5%) HP:0001250
56 holoprosencephaly occasional (7.5%) HP:0001360
57 craniosynostosis occasional (7.5%) HP:0001363
58 arthritis occasional (7.5%) HP:0001369
59 intrauterine growth retardation occasional (7.5%) HP:0001511
60 umbilical hernia occasional (7.5%) HP:0001537
61 patent ductus arteriosus occasional (7.5%) HP:0001643
62 abnormality of the aortic valve occasional (7.5%) HP:0001646
63 abnormality of the tricuspid valve occasional (7.5%) HP:0001702
64 splenomegaly occasional (7.5%) HP:0001744
65 foot polydactyly occasional (7.5%) HP:0001829
66 thrombocytopenia occasional (7.5%) HP:0001873
67 subcutaneous hemorrhage occasional (7.5%) HP:0001933
68 asthma occasional (7.5%) HP:0002099
69 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
70 aganglionic megacolon occasional (7.5%) HP:0002251
71 spina bifida occasional (7.5%) HP:0002414
72 intestinal malrotation occasional (7.5%) HP:0002566
73 bowel incontinence occasional (7.5%) HP:0002607
74 autoimmunity occasional (7.5%) HP:0002960
75 patellar dislocation occasional (7.5%) HP:0002999
76 venous insufficiency occasional (7.5%) HP:0005293
77 chronic obstructive pulmonary disease occasional (7.5%) HP:0006510
78 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
79 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
80 feeding difficulties in infancy occasional (7.5%) HP:0008872
81 cognitive impairment occasional (7.5%) HP:0100543
82 urogenital fistula occasional (7.5%) HP:0100589
83 displacement of the external urethral meatus occasional (7.5%) HP:0100627
84 hypertensive crisis occasional (7.5%) HP:0100735
85 atelectasis occasional (7.5%) HP:0100750
86 autosomal dominant inheritance HP:0000006
87 inguinal hernia HP:0000023
88 renal dysplasia HP:0000110
89 unilateral renal agenesis HP:0000122
90 hydronephrosis HP:0000126
91 cleft palate HP:0000175
92 bifid uvula HP:0000193
93 high palate HP:0000218
94 hypertelorism HP:0000316
95 short philtrum HP:0000322
96 micrognathia HP:0000347
97 low-set ears HP:0000369
98 abnormality of the middle ear HP:0000370
99 esotropia HP:0000565
100 exotropia HP:0000577
101 blepharophimosis HP:0000581
102 posterior embryotoxon HP:0000627
103 amblyopia HP:0000646
104 sclerocornea HP:0000647
105 delayed speech and language development HP:0000750
106 abnormality of the thymus HP:0000777
107 hypothyroidism HP:0000821
108 parathyroid hypoplasia HP:0000860
109 seborrheic dermatitis HP:0001051
110 cholelithiasis HP:0001081
111 seizures HP:0001250
112 global developmental delay HP:0001263
113 tetany HP:0001281
114 specific learning disability HP:0001328
115 obesity HP:0001513
116 umbilical hernia HP:0001537
117 nasal speech HP:0001611
118 ventricular septal defect HP:0001629
119 tetralogy of fallot HP:0001636
120 patent ductus arteriosus HP:0001643
121 truncus arteriosus HP:0001660
122 right aortic arch with mirror image branching HP:0002627
123 scoliosis HP:0002650
124 recurrent infections HP:0002719
125 hypocalcemia HP:0002901
126 short stature HP:0004322
127 impaired t cell function HP:0005435
128 attention deficit hyperactivity disorder HP:0007018
129 bipolar affective disorder HP:0007302
130 parathyroid agenesis HP:0008211
131 interrupted aortic arch HP:0011611
132 short palpebral fissure HP:0012745
133 femoral hernia HP:0100541

Drugs & Therapeutics for Digeorge Syndrome

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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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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:

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

Animal Models for Digeorge Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Digeorge Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.3ARVCF, DGCR2, DGCR14, TSSK2, HIRA

Publications for Digeorge Syndrome

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Articles related to Digeorge Syndrome:

(show top 50)    (show all 346)
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
The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. (15640691)
2004
15
Live viral vaccines in patients with DiGeorge syndrome. (15380522)
2004
16
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. (15190012)
2004
17
T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome. (12060129)
2002
18
Developing models of DiGeorge syndrome. (11585671)
2001
19
Wrapping up DiGeorge syndrome in a T-box? (11518813)
2001
20
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (11713452)
2001
21
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome. (10637567)
2000
22
Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. (10766989)
2000
23
Oral findings in DiGeorge syndrome: clinical features and histologic study of primary teeth. (10673658)
2000
24
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. (10381330)
1999
25
Inflammatory response to chronic otitis media in DiGeorge syndrome: a case study using immunohistochemistry on archival temporal bone sections. (10453783)
1999
26
Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). (10440825)
1999
27
Severe truncal valve dysplasia: association with DiGeorge syndrome? (9768979)
1998
28
Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. (9463325)
1998
29
Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature. (9642643)
1998
30
DiGeorge syndrome: still an enigma. (9469991)
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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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:

6
id Gene Name Type Significance SNP ID Assembly Location
1TBX1NM_080647.1(TBX1): c.928G> A (p.Gly310Ser)single nucleotide variantPathogenicrs41298838GRCh37Chr 22, 19753444: 19753444
2TBX1TBX1, 23-BP DEL, NT1320deletionPathogenic
3TBX1NM_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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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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Sources:
50PharmGKB, 44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Digeorge Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1bupropion50 44 24 1113.1ARVCF, COMT

GO Terms for genes affiliated with Digeorge Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet