MCID: DGR001
MIFTS: 55

Digeorge Syndrome

Categories: Genetic diseases, Immune diseases, Gastrointestinal diseases

Aliases & Classifications for Digeorge Syndrome

MalaCards integrated aliases for Digeorge Syndrome:

Name: Digeorge Syndrome 57 12 76 75 37 13 55 44 15 40 73
Digeorge Sequence 12 29 6
Third and Fourth Pharyngeal Pouch Syndrome 57 75
Hypoplasia of Thymus and Parathyroids 57 75
Chromosome 22q11.2 Deletion Syndrome 57 75
Dgs 57 75
Pharyngeal Pouch Syndrome 12
Di George's Syndrome 76
Digeorge's Syndrome 12
Shprintzen Syndrome 73
Di-George Syndrome 29

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
digeorge syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Digeorge Syndrome

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)

MalaCards based summary : Digeorge Syndrome, also known as digeorge sequence, is related to tetralogy of fallot and velocardiofacial syndrome. An important gene associated with Digeorge Syndrome is TBX1 (T-Box 1). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include thymus, heart and t cells, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 DiGeorge syndrome: 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 : 12 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.

Wikipedia : 76 DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a... more...

Related Diseases for Digeorge Syndrome

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

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 tetralogy of fallot 28.5 DGCR HIRA TBX1 UFD1
2 velocardiofacial syndrome 24.3 DGCR DGCR2 DGCR5 DGCR6 DGCR6L DGCR8
3 chromosome 22q11.2 deletion syndrome, distal 12.4
4 digeorge syndrome/velocardiofacial syndrome complex 2 12.0
5 hypoparathyroidism 11.3
6 duarte variant galactosemia 11.2
7 opitz gbbb syndrome, type ii 10.9
8 hypoparathyroidism, familial isolated 10.9
9 takayasu arteritis 10.9
10 omenn syndrome 10.9
11 aortic arch interruption 10.9
12 pharyngitis 10.0
13 heart disease 10.0
14 combined immunodeficiency, x-linked 9.9
15 tracheoesophageal fistula with or without esophageal atresia 9.9
16 aging 9.9
17 severe combined immunodeficiency 9.9
18 lymphoma 9.9
19 esophageal atresia 9.9
20 esophagitis 9.9
21 graves' disease 9.9
22 epilepsy 9.9
23 monosomy 22 9.9
24 right aortic arch 9.9
25 leukemia, chronic lymphocytic 2 9.8
26 burkitt lymphoma 9.8
27 leukemia, chronic lymphocytic 9.8
28 lung cancer 9.8
29 galactosemia 9.8
30 werner syndrome 9.8
31 muscular dystrophy, duchenne type 9.8
32 stargardt disease 9.8
33 leukemia 9.8
34 muscular dystrophy 9.8
35 schizophrenia 9.8
36 hemolytic anemia 9.8
37 thrombocytopenia 9.8
38 laryngotracheitis 9.8
39 myelomeningocele 9.8
40 mumps 9.8
41 retinitis 9.8
42 pancreatitis 9.8
43 pneumonia 9.8
44 thyroiditis 9.8
45 influenza 9.8
46 measles 9.8
47 rubella 9.8
48 aortic coarctation 9.8
49 endotheliitis 9.8
50 cleft palate, isolated 9.6

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



Diseases related to Digeorge Syndrome

Symptoms & Phenotypes for Digeorge Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
posterior embryotoxon
amblyopia
sclerocornea
exotropia
more
Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Mouth:
cleft palate
bifid uvula
high arched palate

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

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

Abdomen External Features:
umbilical hernia
femoral hernia

Head And Neck Face:
micrognathia

Head And Neck Nose:
short philtrum
blunted nose

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect
truncus arteriosus
interrupted aortic arch
right aortic arch
more
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


Clinical features from OMIM:

188400

Human phenotypes related to Digeorge Syndrome:

32 (show top 50) (show all 51)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 obesity 32 HP:0001513
4 high palate 32 HP:0000218
5 hypothyroidism 32 HP:0000821
6 seizures 32 HP:0001250
7 scoliosis 32 HP:0002650
8 inguinal hernia 32 HP:0000023
9 global developmental delay 32 HP:0001263
10 delayed speech and language development 32 HP:0000750
11 umbilical hernia 32 HP:0001537
12 short stature 32 HP:0004322
13 cleft palate 32 HP:0000175
14 micrognathia 32 HP:0000347
15 patent ductus arteriosus 32 HP:0001643
16 acne 32 very rare (1%) HP:0001061
17 attention deficit hyperactivity disorder 32 HP:0007018
18 specific learning disability 32 HP:0001328
19 high, narrow palate 32 HP:0002705
20 cholelithiasis 32 HP:0001081
21 short philtrum 32 HP:0000322
22 posterior embryotoxon 32 HP:0000627
23 tetany 32 HP:0001281
24 tetralogy of fallot 32 HP:0001636
25 seborrheic dermatitis 32 HP:0001051
26 nasal speech 32 HP:0001611
27 ventricular septal defect 32 HP:0001629
28 truncus arteriosus 32 HP:0001660
29 hypocalcemia 32 HP:0002901
30 impaired t cell function 32 HP:0005435
31 bipolar affective disorder 32 HP:0007302
32 schizophrenia 32 very rare (1%) HP:0100753
33 recurrent infections 32 HP:0002719
34 amblyopia 32 HP:0000646
35 blepharophimosis 32 HP:0000581
36 sclerocornea 32 HP:0000647
37 hydronephrosis 32 HP:0000126
38 bifid uvula 32 HP:0000193
39 abnormality of the middle ear 32 HP:0000370
40 interrupted aortic arch 32 HP:0011611
41 unilateral renal agenesis 32 HP:0000122
42 short palpebral fissure 32 HP:0012745
43 abnormality of the thymus 32 HP:0000777
44 esotropia 32 HP:0000565
45 renal dysplasia 32 HP:0000110
46 exotropia 32 HP:0000577
47 parathyroid hypoplasia 32 HP:0000860
48 parathyroid agenesis 32 HP:0008211
49 femoral hernia 32 HP:0100541
50 esophoria 32 HP:0025312

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 9.4 DGCR6 DGCR6L LZTR1 PRODH TBX1 UFD1
2 Decreased viability GR00402-S-2 9.4 DGCR6 DGCR6L LZTR1 PRODH TBX1 UFD1

Drugs & Therapeutics for Digeorge Syndrome

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

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4 Antipsychotic Agents Phase 4
5 Central Nervous System Depressants Phase 4
6 Central Nervous System Stimulants Phase 4
7 Dopamine Agents Phase 4
8 Dopamine Antagonists Phase 4
9 Dopamine Uptake Inhibitors Phase 4
10 Neurotransmitter Agents Phase 4
11 Neurotransmitter Uptake Inhibitors Phase 4
12 Psychotropic Drugs Phase 4
13 Serotonin Agents Phase 4
14 Serotonin Antagonists Phase 4
15 Tranquilizing Agents Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17 Calcium, Dietary Phase 3,Phase 2,Phase 1
18
alemtuzumab Approved, Investigational Phase 2 216503-57-0
19
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
20
Melphalan Approved Phase 2 148-82-3 4053 460612
21
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
22
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
23
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
24
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
25
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2,Phase 2 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 1, Phase 2,Phase 2 24280-93-1 446541
27
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
28
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
29
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
30 Hormones Phase 1, Phase 2
31 Alkylating Agents Phase 2
32 Antimetabolites Phase 2
33 Antimetabolites, Antineoplastic Phase 2
34 Antineoplastic Agents, Alkylating Phase 2
35 Immunosuppressive Agents Phase 2,Phase 1
36 Anesthetics Phase 2,Phase 1
37 Analgesics Phase 1, Phase 2
38 Analgesics, Non-Narcotic Phase 1, Phase 2
39 Anti-Bacterial Agents Phase 1, Phase 2,Phase 2
40 Antibiotics, Antitubercular Phase 1, Phase 2,Phase 2
41 Antiemetics Phase 1, Phase 2
42 Antifungal Agents Phase 1, Phase 2,Phase 2
43 Anti-Infective Agents Phase 1, Phase 2,Phase 2
44 Anti-Inflammatory Agents Phase 1, Phase 2
45 Antilymphocyte Serum Phase 1, Phase 2
46 Antineoplastic Agents, Hormonal Phase 1, Phase 2
47 Antipyretics Phase 1, Phase 2
48 Antirheumatic Agents Phase 1, Phase 2,Phase 2
49 Antitubercular Agents Phase 1, Phase 2,Phase 2
50 Autonomic Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
2 Effects of PTH Replacement on Bone in Hypoparathyroidism Completed NCT00395538 Phase 3 PTH 1-34
3 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
4 Thymus Transplantation in DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
5 Thymus Transplantation Dose in DiGeorge #932 Active, not recruiting NCT00576836 Phase 2
6 Phase I/II Thymus Transplantation With Immunosuppression #950 Active, not recruiting NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
7 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by a Donor Stem Cell Transplant in Treating Patients With Immunodeficiency or Other Nonmalignant Inherited Disorders Active, not recruiting NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
8 Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome Terminated NCT01127503 Phase 2 Metyrosine;Placebo
9 Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions Completed NCT02895906 Phase 1 NFC-1
10 This Study Tests BI 685509 in Healthy Chinese and Japanese Men; the Study Tests How Different Doses of BI 685509 Are Taken up in the Body and How Well They Are Tolerated Completed NCT03259464 Phase 1 BI 685509;Placebo
11 Parathyroid and Thymus Transplantation in DiGeorge #931 Active, not recruiting NCT00566488 Phase 1
12 Thymus Transplantation With Immunosuppression Active, not recruiting NCT00579709 Phase 1
13 Serum-Free Thymus Transplantation in DiGeorge Anomaly Terminated NCT00849888 Phase 1
14 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
15 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
16 Non-Invasive Chromosomal Evaluation of 22q11.2 Unknown status NCT02541058
17 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
18 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Unknown status NCT02787486
19 Whole Blood Specimen Collection From Pregnant Subjects Unknown status NCT02430584
20 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
21 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
22 Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome Completed NCT00917189 Not Applicable
23 Cognitive Remediation in 22q11DS Completed NCT01781923 Not Applicable
24 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
25 Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome Completed NCT02634671 Not Applicable
26 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
27 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361 calcium gluconate;sodium citrate
28 Social Cognition Training and Cognitive Remediation Recruiting NCT03284060 Not Applicable
29 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome Recruiting NCT03375359
30 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
31 Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
32 Thymus Transplantation Safety-Efficacy Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
33 Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study Enrolling by invitation NCT02890472
34 Infection in DiGeorge Following CHD Surgery Terminated NCT00278005

Search NIH Clinical Center for Digeorge Syndrome

Cochrane evidence based reviews: digeorge syndrome

Genetic Tests for Digeorge Syndrome

Genetic tests related to Digeorge Syndrome:

# Genetic test Affiliating Genes
1 Digeorge Sequence 29 TBX1
2 Di-George Syndrome 29

Anatomical Context for Digeorge Syndrome

MalaCards organs/tissues related to Digeorge Syndrome:

41
Thymus, Heart, T Cells, Kidney, Bone, Testes, Thyroid

Publications for Digeorge Syndrome

Articles related to Digeorge Syndrome:

(show top 50) (show all 400)
# Title Authors Year
1
Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population. ( 29455205 )
2018
2
Role of DiGeorge syndrome critical region gene 9, a long noncoding RNA, in gastric cancer. ( 29719408 )
2018
3
DiGeorge syndrome : Relevance of psychiatric symptoms in undiagnosed adult patients. ( 29671046 )
2018
4
Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome. ( 29036321 )
2017
5
A case of atypical, complete DiGeorge syndrome without 22q11A mutation. ( 28477796 )
2017
6
Overexpression of Drosha, DiGeorge syndrome critical region gene 8 (DGCR8), and Dicer mRNAs in the pathogenesis of psoriasis. ( 28342199 )
2017
7
DiGeorge Syndrome Associated with Azoospermia: First case in the literature. ( 28861318 )
2017
8
Genetics: Genetic and functional studies reveal genetic drivers of renal disease in DiGeorge syndrome. ( 28163308 )
2017
9
Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene DeterminantsA ofA Phenotype. ( 28456345 )
2017
10
Thymus Transplantation for Complete Digeorge Syndrome: European Experience. ( 28400115 )
2017
11
DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy. ( 29675073 )
2017
12
Appendicitis Caused by Primary Varicella Zoster Virus Infection in a Child with DiGeorge Syndrome. ( 28900551 )
2017
13
Treatment of Comorbid Bipolar Disorder Improves Disabilities and Neuropsychological Functioning in DiGeorge Syndrome: A Case Report. ( 28926351 )
2017
14
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. ( 28121514 )
2017
15
Pancreatic Panniculitis in an 18-Month-Old with Complete DiGeorge Syndrome. ( 27040037 )
2016
16
Treatment of Schizophrenia by Clozapine in an Adolescent Girl with DiGeorge Syndrome. ( 27305589 )
2016
17
Dermatological clues to the diagnosis of atypical complete DiGeorge syndrome. ( 28329565 )
2016
18
Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations. ( 26755698 )
2016
19
Cardiac rehabilitation in an adolescent with Digeorge syndrome: a case report. ( 27858403 )
2016
20
Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome. ( 27506981 )
2016
21
Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome. ( 27444175 )
2016
22
Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome. ( 28173146 )
2016
23
Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions. ( 26875746 )
2016
24
Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome. ( 28105375 )
2016
25
Improvement in Neurocognitive Manifestations with Short-term Multidisciplinary Intervention in DiGeorge Syndrome. ( 27771655 )
2016
26
Post-childhood Presentation and Diagnosis of DiGeorge Syndrome. ( 26116353 )
2015
27
Fever and Renal Failure in a Child With DiGeorge Syndrome and Tetralogy of Fallot. ( 26407263 )
2015
28
Milk-alkali-induced pancreatitis in a chronically hypocalcemic patient with DiGeorge syndrome. ( 25498850 )
2015
29
Anaesthesia and orphan disease: 22q11.2 microdeletion disorder (DiGeorge syndrome). ( 26479513 )
2015
30
Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report. ( 26254176 )
2015
31
Microprocessor Complex Subunit DiGeorge Syndrome Critical Region Gene 8 (Dgcr8) Is Required for Schwann Cell Myelination and Myelin Maintenance. ( 26272614 )
2015
32
Absent Aortic Valve in DiGeorge Syndrome. ( 26230226 )
2015
33
Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice. ( 25806139 )
2015
34
Dilated cardiomyopathy: a preventable presentation of DiGeorge Syndrome. ( 27070888 )
2015
35
Revision Surgery in Permanent Patellar Dislocation in DiGeorge Syndrome. ( 26783479 )
2015
36
"FISHed" out the diagnosis: A case of DiGeorge syndrome. ( 26489877 )
2015
37
Molecular mechanisms of functional natural killer deficiency in patients with partial DiGeorge syndrome. ( 25748067 )
2015
38
DiGeorge syndrome who developed lymphoproliferative mediastinal mass. ( 25861334 )
2015
39
Undiagnosed DiGeorge syndrome presenting in middle age with an aortic root aneurysm and chronic dissection. ( 26392444 )
2015
40
Vaccine Responses and Immunologic Characteristics of Pediatric Patients With DiGeorge Syndrome. ( 25573949 )
2015
41
Laryngotracheal reconstruction in glottic-subglottic stenosis associated with DiGeorge syndrome in a four and a half-month-old infant. ( 26015653 )
2015
42
Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome. ( 25410658 )
2015
43
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome? ( 26793401 )
2015
44
Disseminated Mycobacterium kansasii disease in complete DiGeorge syndrome. ( 26048260 )
2015
45
Live vaccine use and safety in DiGeorge syndrome. ( 24685951 )
2014
46
Resolution of airflow obstruction on polysomnography after laryngotracheal reconstruction with anterior tracheal wall suspension in a patient with DiGeorge Syndrome. ( 25129846 )
2014
47
p53 suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome. ( 25197075 )
2014
48
Refractory autoimmune hemolytic anemia in a patient with DiGeorge syndrome treated successfully with plasma exchange: a case report and review of the literature. ( 25079091 )
2014
49
Perioperative management of patients with DiGeorge syndrome undergoing cardiac surgery. ( 24461359 )
2014
50
The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome. ( 25485546 )
2014

Variations for Digeorge Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 TBX1 p.Gly310Ser VAR_034545 rs41298838

ClinVar genetic disease variations for Digeorge Syndrome:

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX1 NM_080647.1(TBX1): c.297G> A (p.Ala99=) single nucleotide variant Benign rs72646953 GRCh37 Chromosome 22, 19748690: 19748690
2 TBX1 NM_080647.1(TBX1): c.297G> A (p.Ala99=) single nucleotide variant Benign rs72646953 GRCh38 Chromosome 22, 19761167: 19761167
3 TBX1 NM_080647.1(TBX1): c.813C> T (p.Thr271=) single nucleotide variant Benign/Likely benign rs61730282 GRCh37 Chromosome 22, 19752609: 19752609
4 TBX1 NM_080647.1(TBX1): c.813C> T (p.Thr271=) single nucleotide variant Benign/Likely benign rs61730282 GRCh38 Chromosome 22, 19765086: 19765086
5 TBX1 NM_080647.1(TBX1): c.1397C> T (p.Ala466Val) single nucleotide variant Conflicting interpretations of pathogenicity rs753613632 GRCh37 Chromosome 22, 19754299: 19754299
6 TBX1 NM_080647.1(TBX1): c.1397C> T (p.Ala466Val) single nucleotide variant Conflicting interpretations of pathogenicity rs753613632 GRCh38 Chromosome 22, 19766776: 19766776
7 TBX1 NM_080647.1(TBX1): c.309_311delGAA (p.Lys103del) deletion Benign GRCh38 Chromosome 22, 19761179: 19761181
8 TBX1 NM_080647.1(TBX1): c.309_311delGAA (p.Lys103del) deletion Benign GRCh37 Chromosome 22, 19748702: 19748704
9 TBX1 NM_080647.1(TBX1): c.928G> T (p.Gly310Cys) single nucleotide variant Uncertain significance rs41298838 GRCh37 Chromosome 22, 19753444: 19753444
10 TBX1 NM_080647.1(TBX1): c.928G> T (p.Gly310Cys) single nucleotide variant Uncertain significance rs41298838 GRCh38 Chromosome 22, 19765921: 19765921
11 TBX1 NM_080647.1(TBX1): c.1218C> T (p.Gly406=) single nucleotide variant Uncertain significance rs780344405 GRCh37 Chromosome 22, 19754120: 19754120
12 TBX1 NM_080647.1(TBX1): c.1218C> T (p.Gly406=) single nucleotide variant Uncertain significance rs780344405 GRCh38 Chromosome 22, 19766597: 19766597
13 subset of 16 genes:TBX1 NC_000022.10: g.(?_18900668)_(19770565_?)del deletion Pathogenic GRCh37 Chromosome 22, 18900668: 19770565
14 TBX1 NM_080647.1(TBX1): c.-882C> T single nucleotide variant Benign rs41298629 GRCh37 Chromosome 22, 19743473: 19743473
15 TBX1 NM_080647.1(TBX1): c.-882C> T single nucleotide variant Benign rs41298629 GRCh38 Chromosome 22, 19755950: 19755950
16 TBX1 NM_080647.1(TBX1): c.444C> T (p.Phe148=) single nucleotide variant Benign/Likely benign rs139776757 GRCh37 Chromosome 22, 19750797: 19750797
17 TBX1 NM_080647.1(TBX1): c.444C> T (p.Phe148=) single nucleotide variant Benign/Likely benign rs139776757 GRCh38 Chromosome 22, 19763274: 19763274
18 TBX1 NM_080647.1(TBX1): c.1217G> A (p.Gly406Asp) single nucleotide variant Likely benign rs756543718 GRCh38 Chromosome 22, 19766596: 19766596
19 TBX1 NM_080647.1(TBX1): c.1217G> A (p.Gly406Asp) single nucleotide variant Likely benign rs756543718 GRCh37 Chromosome 22, 19754119: 19754119
20 TBX1 NM_080647.1(TBX1): c.492G> A (p.Pro164=) single nucleotide variant Benign/Likely benign rs111754814 GRCh37 Chromosome 22, 19750845: 19750845
21 TBX1 NM_080647.1(TBX1): c.492G> A (p.Pro164=) single nucleotide variant Benign/Likely benign rs111754814 GRCh38 Chromosome 22, 19763322: 19763322
22 TBX1 NM_080647.1(TBX1): c.1353T> C (p.His451=) single nucleotide variant Benign/Likely benign rs367711718 GRCh38 Chromosome 22, 19766732: 19766732
23 TBX1 NM_080647.1(TBX1): c.1353T> C (p.His451=) single nucleotide variant Benign/Likely benign rs367711718 GRCh37 Chromosome 22, 19754255: 19754255
24 subset of 16 genes:TBX1 NC_000022.10: g.(?_18910310)_(19770565_?)del deletion Pathogenic GRCh37 Chromosome 22, 18910310: 19770565
25 TBX1 NM_080647.1(TBX1): c.140_145delCGCCGC (p.Pro47_Pro48del) deletion Uncertain significance GRCh38 Chromosome 22, 19761010: 19761015
26 TBX1 NM_080647.1(TBX1): c.140_145delCGCCGC (p.Pro47_Pro48del) deletion Uncertain significance GRCh37 Chromosome 22, 19748533: 19748538
27 TBX1 NM_080647.1(TBX1): c.1134C> T (p.Gly378=) single nucleotide variant Uncertain significance rs941116789 GRCh38 Chromosome 22, 19766513: 19766513
28 TBX1 NM_080647.1(TBX1): c.1134C> T (p.Gly378=) single nucleotide variant Uncertain significance rs941116789 GRCh37 Chromosome 22, 19754036: 19754036
29 TBX1 NM_080647.1(TBX1): c.292A> T (p.Lys98Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 19748685: 19748685
30 TBX1 NM_080647.1(TBX1): c.292A> T (p.Lys98Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 19761162: 19761162

Copy number variations for Digeorge Syndrome from CNVD:

7 (show all 27)
# CNVD ID Chromosom 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 INI1 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 microde letion 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

Expression for Digeorge Syndrome

Search GEO for disease gene expression data for Digeorge Syndrome.

Pathways for Digeorge Syndrome

GO Terms for Digeorge Syndrome

Biological processes related to Digeorge Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 social behavior GO:0035176 8.96 GNB1L TBX1
2 anatomical structure morphogenesis GO:0009653 8.8 GSC2 HIRA LZTR1

Molecular functions related to Digeorge Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.02 GSC2 HIRA LZTR1 TBX1 ZNF74

Sources for Digeorge Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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