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DGS
MCID: DGR001
MIFTS: 59

Digeorge Syndrome (DGS)

Categories: Gastrointestinal diseases, Genetic diseases, Immune diseases
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Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Digeorge Syndrome

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MalaCards integrated aliases for Digeorge Syndrome:

Name: Digeorge Syndrome 57 11 75 73 28 12 53 5 43 14 38 71
Chromosome 22q11.2 Deletion Syndrome 57 73 5
Third and Fourth Pharyngeal Pouch Syndrome 57 73
Hypoplasia of Thymus and Parathyroids 57 73
Dgs 57 73
22q11.2 Deletion Syndrome 11
Pharyngeal Pouch Syndrome 11
Digeorge's Syndrome 11
Shprintzen Syndrome 71
Di-George Syndrome 28
Digeorge Sequence 11

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births
hernia occurs in 22% of adults
usually sporadic disorder resulting from de novo 22q11.2 deletion
22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 31


Sources

Summaries for Digeorge Syndrome

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OMIM®: 57 DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol. (188400) (Updated 08-Dec-2022)

MalaCards based summary: Digeorge Syndrome, also known as chromosome 22q11.2 deletion syndrome, is related to chromosome 22q11.2 deletion syndrome, distal and velocardiofacial syndrome. An important gene associated with Digeorge Syndrome is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. The drugs Fluoxetine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include thymus, heart and tongue, and related phenotypes are intellectual disability and seizure

UniProtKB/Swiss-Prot: 73 A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype.

Disease Ontology: 11 A syndrome that has material basis in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.

Wikipedia: 75 DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on... more...
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Related Diseases for Digeorge Syndrome

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

(show top 50) (show all 583)
# Related Disease Score Top Affiliating Genes
1 chromosome 22q11.2 deletion syndrome, distal 32.2 ZNF74 UFD1 TBX1 SEPTIN5 PRODH MIR185
2 velocardiofacial syndrome 31.5 ZNF74 UFD1 TBX1 SEPTIN5 PRODH MIR185
3 t-cell immunodeficiency with thymic aplasia 31.1 TBX1 PRODH HIRA
4 heart septal defect 31.0 TBX1 PRODH HIRA
5 ventricular septal defect 31.0 TBX1 PRODH HIRA
6 tetralogy of fallot 30.7 ZNF74 UFD1 TBX1 PRODH LZTR1 HIRA
7 schizophreniform disorder 30.5 PRODH DGCR2
8 patent ductus arteriosus 1 30.5 TBX1 PRODH HIRA
9 hyperprolinemia 30.3 PRODH DGCR6L DGCR5
10 atrial heart septal defect 30.3 TBX1 PRODH LZTR1 HIRA
11 orofacial cleft 30.2 TBX1 PRODH HIRA DGCR5
12 chromosome 22q11.2 duplication syndrome 30.0 ZNF74 UFD1 TBX1 PRODH LZTR1 HIRA
13 chromosomal deletion syndrome 29.8 TBX1 PRODH MIR185 HIRA DGCR8 DGCR6L
14 digeorge syndrome/velocardiofacial syndrome complex 2 11.3
15 polymicrogyria 11.3
16 selective igm deficiency disease 11.2
17 opitz gbbb syndrome 11.2
18 polymicrogyria, bilateral perisylvian, x-linked 11.2
19 congenital unilateral hypoplasia of depressor anguli oris 11.2
20 aortic arch interruption 11.1
21 takayasu arteritis 11.1
22 teebi hypertelorism syndrome 1 11.1
23 omenn syndrome 11.1
24 hypoparathyroidism 10.6
25 conotruncal heart malformations 10.6
26 t cell deficiency 10.4
27 immune deficiency disease 10.4
28 cleft palate, isolated 10.4
29 hyperprolinemia, type i 10.3 PRODH DGCR6L DGCR5
30 ichthyosis, congenital, autosomal recessive 9 10.3 TBX1 HIRA
31 schizotypal personality disorder 10.3
32 hypotonia 10.3
33 lymphopenia 10.3
34 right aortic arch 10.3
35 van den ende-gupta syndrome 10.3 PRODH LZTR1 DGCR2
36 severe combined immunodeficiency 10.3
37 parkinson disease 2, autosomal recessive juvenile 10.3
38 microcephaly 10.3
39 cognitive function 1, social 10.3
40 hypertelorism 10.3
41 graft-versus-host disease 10.3
42 combined immunodeficiency 10.3
43 thrombocytopenia 10.3
44 otitis media 10.2
45 charge syndrome 10.2
46 speech and communication disorders 10.2
47 idiopathic scoliosis 10.2
48 parkinsonism 10.2
49 benign idiopathic neonatal seizures 10.2
50 tricuspid atresia 10.2 TBX1 PRODH

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



Diseases related to Digeorge Syndrome
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Symptoms & Phenotypes for Digeorge Syndrome

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Human phenotypes related to Digeorge Syndrome:

30 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 seizure 30 Very rare (1%) HP:0001250
3 scoliosis 30 Very rare (1%) HP:0002650
4 splenomegaly 30 Very rare (1%) HP:0001744
5 microcephaly 30 Very rare (1%) HP:0000252
6 short stature 30 Very rare (1%) HP:0004322
7 gastroesophageal reflux 30 Very rare (1%) HP:0002020
8 renal insufficiency 30 Very rare (1%) HP:0000083
9 anemia 30 Very rare (1%) HP:0001903
10 acne 30 Very rare (1%) HP:0001061
11 recurrent otitis media 30 Very rare (1%) HP:0000403
12 hepatic steatosis 30 Very rare (1%) HP:0001397
13 obesity 30 Very rare (1%) HP:0001513
14 cholelithiasis 30 Very rare (1%) HP:0001081
15 thrombocytopenia 30 Very rare (1%) HP:0001873
16 asthma 30 Very rare (1%) HP:0002099
17 hydronephrosis 30 Very rare (1%) HP:0000126
18 patellar dislocation 30 Very rare (1%) HP:0002999
19 atelectasis 30 Very rare (1%) HP:0100750
20 hypoplasia of the thymus 30 Very rare (1%) HP:0000778
21 seborrheic dermatitis 30 Very rare (1%) HP:0001051
22 schizophrenia 30 Very rare (1%) HP:0100753
23 recurrent pneumonia 30 Very rare (1%) HP:0006532
24 unilateral renal agenesis 30 Very rare (1%) HP:0000122
25 hemiparesis 30 Very rare (1%) HP:0001269
26 hydrocele testis 30 Very rare (1%) HP:0000034
27 recurrent sinusitis 30 Very rare (1%) HP:0011108
28 intervertebral disc degeneration 30 Very rare (1%) HP:0008419
29 drooling 30 Very rare (1%) HP:0002307
30 ovarian cyst 30 Very rare (1%) HP:0000138
31 chronic pulmonary obstruction 30 Very rare (1%) HP:0006510
32 pilonidal sinus 30 Very rare (1%) HP:0010769
33 high palate 30 HP:0000218
34 hypothyroidism 30 HP:0000821
35 global developmental delay 30 HP:0001263
36 inguinal hernia 30 HP:0000023
37 hypertelorism 30 HP:0000316
38 delayed speech and language development 30 HP:0000750
39 umbilical hernia 30 HP:0001537
40 attention deficit hyperactivity disorder 30 HP:0007018
41 micrognathia 30 HP:0000347
42 low-set ears 30 HP:0000369
43 specific learning disability 30 HP:0001328
44 high, narrow palate 30 HP:0002705
45 tetralogy of fallot 30 HP:0001636
46 patent ductus arteriosus 30 HP:0001643
47 interrupted aortic arch 30 HP:0011611
48 amblyopia 30 HP:0000646
49 posterior embryotoxon 30 HP:0000627
50 tetany 30 HP:0001281

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary External Genitalia Male:
inguinal hernia

Abdomen External Features:
umbilical hernia
femoral hernia

Head And Neck Face:
micrognathia

Cardiovascular Heart:
tetralogy of fallot
interrupted aortic arch
ventricular septal defect
truncus arteriosus
right aortic arch
more
Genitourinary Kidneys:
hydronephrosis
unilateral renal agenesis
renal dysplasia

Head And Neck Nose:
short philtrum
blunted nose

Voice:
hypernasal speech

Growth Height:
short stature (20% of adults)

Abdomen Biliary Tract:
cholelithiasis (19% of adults)

Skin Nails Hair Skin:
severe acne (23% of adults)
seborrhea (35% of adults)

Laboratory Abnormalities:
neonatal hypocalcemia
hypocalcemia (64% of adults)
t-cell deficit
85-90% dgs patients have deletion of 22q11.2
other cytogenic abnormalities have been associated with dgs phenotype including monosomy 10p13, 11p13, and 4q21

Head And Neck Eyes:
hypertelorism
amblyopia
posterior embryotoxon
sclerocornea
exotropia
more
Head And Neck Mouth:
cleft palate
bifid uvula
high arched palate

Head And Neck Ears:
low-set ears
abnormal folded pinna
middle ear abnormalities
hearing deficits (28% of adults)

Cardiovascular Vascular:
patent ductus arteriosus

Neurologic Central Nervous System:
tetany
delayed psychomotor development
mild to moderate learning difficulties
late-onset speech development
seizures (40%)

Endocrine Features:
parathyroid hypoplasia
parathyroid absence
thymic hypoplasia
thymic aplasia
accessory thyroid tissue
more
Neurologic Behavioral Psychiatric Manifestations:
bipolar disorder
attention deficit disorder
schizophrenia (22% of adults)

Growth Weight:
obesity (35% of adults)

Skeletal Spine:
scoliosis (47% of adults)

Immunology:
immune defect due to a t cell deficit
susceptibility to infection

Clinical features from OMIM®:

188400 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Digeorge Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 9.02 GNB1L GSC2 UFD1 YPEL1 ZNF74
Sources

Drugs & Therapeutics for Digeorge Syndrome

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Drugs for Digeorge Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3 Central Nervous System Stimulants Phase 4
4 Dopamine Uptake Inhibitors Phase 4
5
Tocopherol Approved, Investigational Phase 2, Phase 3 1406-66-2
6
Mineral oil Approved, Vet_approved Phase 2, Phase 3 8042-47-5
7
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
8
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9, 10191-41-0 2116 14985
9
Tocotrienol Investigational Phase 2, Phase 3 6829-55-6 9929901
10 Vitamins Phase 2, Phase 3
11 Omega 3 Fatty Acid Phase 2, Phase 3
12 Tocotrienols Phase 2, Phase 3
13 Tocopherols Phase 2, Phase 3
14 Calcium, Dietary Phase 3
15
Calcium Nutraceutical Phase 3 7440-70-2 271
16
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
17
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
18
Mycophenolic acid Approved, Investigational Phase 1, Phase 2 24280-93-1 446541
19
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643
20
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
21
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
22
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
23
Melphalan Approved Phase 2 148-82-3 4053 460612
24
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
25
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
26
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
27
Cannabidiol Approved, Investigational Phase 1, Phase 2 13956-29-1 521372 644019
28
Metyrosine Approved Phase 2 672-87-7 441350
29
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
30
Daclizumab Investigational, Withdrawn Phase 1, Phase 2 152923-56-3
31 Antirheumatic Agents Phase 1, Phase 2
32 Antineoplastic Agents, Hormonal Phase 1, Phase 2
33 Anti-Bacterial Agents Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Neuroprotective Agents Phase 1, Phase 2
36 Calcineurin Inhibitors Phase 1, Phase 2
37 Hormones Phase 1, Phase 2
38 Hormone Antagonists Phase 1, Phase 2
39 Antifungal Agents Phase 1, Phase 2
40 Antiemetics Phase 1, Phase 2
41 Anti-Inflammatory Agents Phase 1, Phase 2
42 glucocorticoids Phase 1, Phase 2
43 Antitubercular Agents Phase 1, Phase 2
44 Antibiotics, Antitubercular Phase 1, Phase 2
45 Gastrointestinal Agents Phase 1, Phase 2
46 Dermatologic Agents Phase 1, Phase 2
47 Protective Agents Phase 1, Phase 2
48 Immunosuppressive Agents Phase 2
49 Immunologic Factors Phase 2
50 Alkylating Agents Phase 2

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
2 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome Genetically at High Risk for Psychosis: A Randomised, Double Blind, Placebo-controlled Treatment Trial. Unknown status NCT02070211 Phase 2, Phase 3
3 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
4 Phase I/II Trial of Thymus Transplantation With Immunosuppression, #950 Completed NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
5 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
6 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
7 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
8 A Randomized, Placebo-Controlled Crossover Trial to Assess the Safety and Efficacy of NB-001 in Children and Adolescents With 22q11 Deletion Syndrome Recruiting NCT05290493 Phase 2 NB-001
9 Open-Label, Tolerability and Efficacy Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome Active, not recruiting NCT05149898 Phase 1, Phase 2 ZYN002
10 A Double-Blind, Placebo-Controlled, Multi-Center, Randomized Trial of the Safety and Efficacy of Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velo-Cardio-Facial Syndrome Terminated NCT01127503 Phase 2 Metyrosine;Placebo
11 Thymus Transplantation With Immunosuppression, #884 Completed NCT00579709 Phase 1
12 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
13 A 5-Week, Multi-center, Open-label Study to Assess the Safety and Efficacy of NFC-1 in Subjects Aged 12-17 Years With 22q11.2 Deletion Syndrome and Commonly Associated Neuropsychiatric Conditions (Anxiety, ADHD, ASD) Completed NCT02895906 Phase 1 NFC-1
14 Phase I Serum-Free Cultured Thymus Transplantation in DiGeorge Anomaly, IND9836 Terminated NCT00849888 Phase 1
15 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
16 Whole Blood Specimen Collection From Pregnant Subjects Unknown status NCT02430584
17 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
18 Safety and Efficacy of Thymus Transplantation in Complete DiGeorge Anomaly, IND#9836 Approved for marketing NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Mycophenolate mofetil
19 A Clinical Study to Evaluate the Relative Clinical Sensitivity, Specificity, and Performance of the a Laboratory Developed Test as a Screening Test for Fetal Chromosomal Aneuploidy, Infectious and Other Diseases, and RhD Genotyping in the General Population of Pregnant Women Completed NCT02787486
20 SNP-based Microdeletion and Aneuploidy RegisTry Completed NCT02381457
21 Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q11.2-Hemideletion Syndrome Completed NCT00105274
22 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
23 Translational 22q11.2:"Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom" Completed NCT04141540
24 Effects of Modulation of the Dopaminergic System Using Methylphenidate on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Completed NCT04647500 Concerta
25 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
26 Put a Face to a Name (Part A): The Effects of Photographic Aids on Patient Satisfaction,Clinician Communication, and Quality of Care Completed NCT01658644
27 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
28 Genetic Modifiers for 22q11.2 Syndrome Completed NCT00916955
29 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
30 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
31 Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome Completed NCT02890472
32 Facial Expression Perception by Intensity in Schizophrenia and 22q11.2 Deletion Syndrome: Neural Electrophysiological Evidence by Means of Fast Periodic Visual Stimulation Completed NCT02634671
33 Genetic Modifiers of 22q11.2 Deletion Syndrome Recruiting NCT00556530
34 Congenital Athymia Patient Registry of RETHYMIC Recruiting NCT05329935
35 Study of Arithmetic Abilities of Children With 22q11.2 Deletion Syndrome Aged From 4 to 11 Years Old Recruiting NCT04373226
36 Characterize the Behavioral Prodromes of Psychotic Disorders in Children With 22q11.2DS Aged From 4 to 13 Years Old Recruiting NCT04639388
37 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02 Recruiting NCT03375359
38 Pilot Study: Self-Face Recognition After Face Transplantation Enrolling by invitation NCT03027141
39 Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders Enrolling by invitation NCT03836300
40 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005
41 Social Cognition Training and Cognitive Remediation : a New Tool for 22q11.2 Deletion Syndrome Terminated NCT03284060
42 Effects of Modulation of the Dopaminergic System Using Risperidone on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Terminated NCT04639960 Risperdal;Placebo
43 Prevalence and Clincial Spectrum of the 22q11 Deletion: A Population Based Study of Children and Congenital Heart Defects Terminated NCT00267397

Search NIH Clinical Center for Digeorge Syndrome

Cochrane evidence based reviews: digeorge syndrome

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Genetic Tests for Digeorge Syndrome

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Genetic tests related to Digeorge Syndrome:

# Genetic test Affiliating Genes
1 Digeorge Syndrome 28 TBX1
2 Di-George Syndrome 28
Sources

Anatomical Context for Digeorge Syndrome

About this section

Organs/tissues related to Digeorge Syndrome:

MalaCards : Thymus, Heart, Tongue, Kidney, Thyroid, Testis, Whole Blood
Sources

Publications for Digeorge Syndrome

About this section

Articles related to Digeorge Syndrome:

(show top 50) (show all 2753)
# Title Authors PMID Year
1
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. 53 62 57 5
11239417 2001
2
Role of TBX1 in human del22q11.2 syndrome. 62 57 5
14585638 2003
3
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. 62 57 5
11242049 2001
4
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. 53 62 57
11242110 2001
5
Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. 53 62 57
8733130 1996
6
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. 62 57
28121514 2017
7
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome. 62 57
23765047 2014
8
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia. 62 5
24637876 2014
9
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. 62 57
23453669 2013
10
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. 62 57
20503320 2010
11
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. 62 57
19805316 2009
12
Genetic compensation in a human genomic disorder. 62 57
19297573 2009
13
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. 62 57
18324686 2008
14
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. 62 57
17676598 2007
15
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. 62 57
16900388 2006
16
Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome. 62 57
16542388 2006
17
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. 62 57
16513880 2006
18
Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome. 62 57
15889418 2005
19
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. 62 5
15703190 2005
20
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. 62 57
15190012 2004
21
VEGF: a modifier of the del22q11 (DiGeorge) syndrome? 62 57
12539040 2003
22
Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. 62 57
12563036 2003
23
DiGeorge syndrome: the use of model organisms to dissect complex genetics. 62 57
12351571 2002
24
Graves' disease in patients with 22q11.2 deletion. 62 57
11743521 2001
25
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). 62 57
11713452 2001
26
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. 62 57
11709542 2001
27
Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region. 62 57
11309372 2001
28
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. 62 57
11242111 2001
29
Deconstructing DiGeorge syndrome. 62 57
11242098 2001
30
Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region. 62 57
10963672 2000
31
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. 62 57
10699172 2000
32
A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients. 62 57
10592069 1999
33
Transplantation of thymus tissue in complete DiGeorge syndrome. 62 57
10523153 1999
34
Congenital heart disease in mice deficient for the DiGeorge syndrome region. 62 57
10517636 1999
35
B-cell lymphoma associated with DiGeorge syndrome. 62 57
10412828 1999
36
A common molecular basis for rearrangement disorders on chromosome 22q11. 62 57
10369860 1999
37
Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance. 62 57
9511978 1998
38
Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. 62 57
9463325 1998
39
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. 62 57
9350810 1997
40
Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11? 62 57
9098482 1997
41
Nasal dimple as part of the 22q11.2 deletion syndrome. 62 57
9096759 1997
42
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. 62 57
8644734 1996
43
Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity. 62 57
8574419 1995
44
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. 62 57
7670464 1995
45
Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. 62 57
7607662 1995
46
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. 62 57
7633403 1995
47
Velocardiofacial syndrome and DiGeorge sequence. 62 57
8064827 1994
48
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. 62 57
8111380 1993
49
DiGeorge syndrome: part of CATCH 22. 62 57
8230162 1993
50
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. 62 57
8230155 1993
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Variations for Digeorge Syndrome

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ClinVar genetic disease variations for Digeorge Syndrome:

5 (show top 50) (show all 397)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 16 genes NC_000022.10:g.(?_18900668)_(19770565_?)del DEL Pathogenic
 455788 GRCh37: 22:18900668-19770565
GRCh38:
2 overlap with 2 genes NC_000022.11:g.(?_19755901)_(19783042_?)del DEL Pathogenic
 583599 GRCh37: 22:19743424-19770565
GRCh38: 22:19755901-19783042
3 overlap with 14 genes NC_000022.11:g.(?_19722428)_(19975757_?)del DEL Pathogenic
 584158 GRCh37: 22:19709951-19963280
GRCh38: 22:19722428-19975757
4 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18901004-21408430) CN LOSS Pathogenic
 625586 GRCh37: 22:18901004-21408430
GRCh38:
5 overlap with 28 genes GRCh37/hg19 22q11.21(chr22:18918741-20311922) CN LOSS Pathogenic
 625620 GRCh37: 22:18918741-20311922
GRCh38:
6 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912403-21431174) CN LOSS Pathogenic
 625621 GRCh37: 22:18912403-21431174
GRCh38:
7 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912870-21431174) CN LOSS Pathogenic
 625625 GRCh37: 22:18912870-21431174
GRCh38:
8 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18892575-21460220) CN LOSS Pathogenic
 625679 GRCh37: 22:18892575-21460220
GRCh38:
9 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18892575-21460220) CN LOSS Pathogenic
 625684 GRCh37: 22:18892575-21460220
GRCh38:
10 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18900755-21800277) CN LOSS Pathogenic
 625739 GRCh37: 22:18900755-21800277
GRCh38:
11 TBX1 NC_000022.11:g.(?_19755950)_(19759697_?)del DEL Pathogenic
 640457 GRCh37: 22:19743473-19747220
GRCh38: 22:19755950-19759697
12 overlap with 2 genes NC_000022.11:g.(?_19755901)_(19766877_?)del DEL Pathogenic
 660156 GRCh37: 22:19743424-19754400
GRCh38: 22:19755901-19766877
13 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 CN LOSS Pathogenic
 666443 GRCh37: 22:18661724-21505417
GRCh38:
14 overlap with 78 genes DEL Pathogenic
 812919 GRCh37: 22:18475385-23764120
GRCh38:
15 overlap with 11 genes NC_000022.10:g.(?_19163623)_(19770565_?)del DEL Pathogenic
 831644 GRCh37: 22:19163623-19770565
GRCh38:
16 TBX1 NC_000022.11:g.(?_19755901)_(19759687_?)del DEL Pathogenic
 831941 GRCh37: 22:19743424-19747210
GRCh38:
17 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912403-21431174) CN LOSS Pathogenic
 915966 GRCh37: 22:18912403-21431174
GRCh38:
18 TBX1 NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs) INSERT Pathogenic
 1031062 rs1936852915 GRCh37: 22:19754053-19754054
GRCh38: 22:19766530-19766531
19 TBX1 NC_000022.10:g.(?_19748454)_19748649del DEL Pathogenic
 1071029 GRCh37:
GRCh38:
20 overlap with 48 genes DEL Pathogenic
 1077187 GRCh37: 22:18893882-21571027
GRCh38:
21 overlap with 48 genes DEL Pathogenic
 1077190 GRCh37: 22:18893882-21563420
GRCh38:
22 TBX1 NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) DEL Pathogenic
 971780 rs1936634853 GRCh37: 22:19748451-19748646
GRCh38: 22:19760928-19761123
23 TBX1 NM_001379200.1(TBX1):c.195_229del (p.Ala66fs) DEL Pathogenic
 1354584 GRCh37: 22:19748552-19748586
GRCh38: 22:19761029-19761063
24 TBX1 NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter) SNV Pathogenic
 1378052 GRCh37: 22:19748552-19748552
GRCh38: 22:19761029-19761029
25 TBX1 NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter) SNV Pathogenic
 1445413 GRCh37: 22:19753938-19753938
GRCh38: 22:19766415-19766415
26 TBX1 NM_001379200.1(TBX1):c.881del (p.Lys294fs) DEL Pathogenic
 1432687 GRCh37: 22:19753293-19753293
GRCh38: 22:19765770-19765770
27 overlap with 16 genes NC_000022.10:g.(?_18910310)_(19770565_?)del DEL Pathogenic
 526039 GRCh37: 22:18910310-19770565
GRCh38:
28 TBX1 NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) DEL Pathogenic
 949172 rs1936640897 GRCh37: 22:19748554-19748579
GRCh38: 22:19761031-19761056
29 TBX1 NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter) SNV Pathogenic
 526036 rs1555895466 GRCh37: 22:19748685-19748685
GRCh38: 22:19761162-19761162
30 overlap with 43 genes NC_000022.10:g.(?_18900688)_(21351637_?)del DEL Pathogenic
 1071026 GRCh37: 22:18900688-21351637
GRCh38:
31 TBX1 NC_000022.10:g.(?_19743226)_(19755855_?)del DEL Pathogenic
 1071027 GRCh37: 22:19743226-19755855
GRCh38:
32 TBX1 NC_000022.10:g.(?_19747167)_(19754390_?)del DEL Pathogenic
 1071028 GRCh37: 22:19747167-19754390
GRCh38:
33 TBX1 NM_001379200.1(TBX1):c.1117del (p.Leu373fs) DEL Pathogenic
 1071222 GRCh37: 22:19753992-19753992
GRCh38: 22:19766469-19766469
34 TBX1 NM_001379200.1(TBX1):c.1096del (p.Asp366fs) DEL Pathogenic
 1073688 GRCh37: 22:19753968-19753968
GRCh38: 22:19766445-19766445
35 overlap with 16 genes NC_000022.10:g.(?_18900668)_(19747220_?)del DEL Pathogenic
 1456987 GRCh37: 22:18900668-19747220
GRCh38:
36 TBX1 NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs) DUP Pathogenic
 1402928 GRCh37: 22:19752561-19752562
GRCh38: 22:19765038-19765039
37 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 CN LOSS Pathogenic
 636280 GRCh37: 22:18912231-21465672
GRCh38:
38 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 CN LOSS Pathogenic
 636281 GRCh37: 22:18631364-21800471
GRCh38:
39 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 CN LOSS Pathogenic
 636282 GRCh37: 22:18922151-21449911
GRCh38:
40 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 CN LOSS Pathogenic
 636283 GRCh37: 22:18636749-21800471
GRCh38:
41 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 CN LOSS Pathogenic
 636284 GRCh37: 22:18919477-21800471
GRCh38:
42 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18645353-21800797) CN LOSS Pathogenic
 1703639 GRCh37: 22:18645353-21800797
GRCh38:
43 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18644790-21798907) CN LOSS Pathogenic
 1703640 GRCh37: 22:18644790-21798907
GRCh38:
44 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18916842-21798907) CN LOSS Pathogenic
 1703641 GRCh37: 22:18916842-21798907
GRCh38:
45 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18644790-21800471) CN LOSS Pathogenic
 1703642 GRCh37: 22:18644790-21800471
GRCh38:
46 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18648866-21798907) CN LOSS Pathogenic
 1703643 GRCh37: 22:18648866-21798907
GRCh38:
47 overlap with 48 genes GRCh37/hg19 22q11.21(chr22:18893344-21650280) CN LOSS Pathogenic
 1703644 GRCh37: 22:18893344-21650280
GRCh38:
48 TBX1 NM_001379200.1(TBX1):c.711+1G>A SNV Pathogenic/Likely Pathogenic
 1481145 GRCh37: 22:19751850-19751850
GRCh38: 22:19764327-19764327
49 TBX1 NM_001379200.1(TBX1):c.882G>C (p.Lys294Asn) SNV Likely Pathogenic
 1676577 GRCh37:
GRCh38:
50 TBX1 NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) SNV Likely Pathogenic
 973222 rs1936727304 GRCh37: 22:19750829-19750829
GRCh38: 22:19763306-19763306

UniProtKB/Swiss-Prot genetic disease variations for Digeorge Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TBX1 p.Gly310Ser VAR_034545 rs41298838

Copy number variations for Digeorge Syndrome from CNVD:

6 (show all 27)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 38182 10 1 6700000 Copy number GATA3 Digeorge syndrome
2 39935 10 12200000 17300000 Deletion Digeorge syndrome
3 45062 10 6700000 12300000 Copy number Digeorge syndrome
4 160206 22 11800000 24300000 Copy number CLDN5 Digeorge syndrome
5 160208 22 11800000 24300000 Copy number GP1BB Digeorge syndrome
6 160209 22 11800000 24300000 Copy number SMARCB1 Digeorge syndrome
7 160211 22 11800000 24300000 Copy number SNAP29 Digeorge syndrome
8 160219 22 11800000 24300000 Deletion Digeorge syndrome
9 160254 22 11800000 24300000 Deletion TBX1 Digeorge syndrome
10 160263 22 11800000 24300000 Microdeletion Digeorge syndrome
11 160264 22 11800000 24300000 Microdeletion Digeorge syndrome
12 160757 22 16300000 20500000 Deletion Digeorge syndrome
13 160774 22 16300000 24300000 Copy number Digeorge syndrome
14 160806 22 16300000 24300000 Deletion GNB1L Digeorge syndrome
15 160807 6 15354505 15630232 Deletion JARID2 Digeorge syndrome
16 160809 22 16300000 24300000 Deletion PRODH Digeorge syndrome
17 160814 22 16300000 24300000 Deletion TBX1 Digeorge syndrome
18 160826 22 16300000 24300000 Heterozygous microdeletion Digeorge syndrome
19 160834 22 16300000 24300000 Microdeletion DiGeorge syndrome
20 160836 22 16300000 24300000 Microdeletion Digeorge syndrome
21 160837 22 16300000 24300000 Microdeletion Digeorge syndrome
22 160838 22 16300000 24300000 Microdeletion Digeorge syndrome
23 160851 8 72272221 72437021 Microdeletion EYA1 Digeorge syndrome
24 160854 14 60181169 60185908 Microdeletion SIX1 Digeorge syndrome
25 161229 22 17900000 22200000 Copy number Digeorge syndrome
26 161245 22 17900000 25900000 Deletion Digeorge syndrome
27 161441 22 18890271 18894894 Deletion Digeorge syndrome
Sources

Expression for Digeorge Syndrome

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Search GEO for disease gene expression data for Digeorge Syndrome.
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Pathways for Digeorge Syndrome

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Pathways related to Digeorge Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
22q11.2 copy number variation syndrome 74
11.59 ZNF74 UFD1 TBX1 SEPTIN5 PRODH LZTR1
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GO Terms for Digeorge Syndrome

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Sources for Digeorge Syndrome

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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