MCID: DGR001
MIFTS: 54

Digeorge Syndrome

Categories: Genetic diseases, Immune diseases, Gastrointestinal diseases

Aliases & Classifications for Digeorge Syndrome

MalaCards integrated aliases for Digeorge Syndrome:

Name: Digeorge Syndrome 54 12 24 71 13 52 42 14 69
Digeorge Sequence 12 29
Dgs 24 71
Third and Fourth Pharyngeal Pouch Syndrome 71
Hypoplasia of Thymus and Parathyroids 71
Chromosome 22q11.2 Deletion Syndrome 71
Pharyngeal Pouch Syndrome 12
Di George's Syndrome 72
Digeorge's Syndrome 12
Shprintzen Syndrome 69

Characteristics:

OMIM:

54
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 : 54
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 chromosome 22q11.2 deletion syndrome, distal and digeorge syndrome/velocardiofacial syndrome complex 2, and has symptoms including short stature, scoliosis and acne. 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.

UniProtKB/Swiss-Prot : 71 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 : 72 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 in the Digeorge Syndrome family:

Digeorge Syndrome 2

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

(show top 50) (show all 87)
id Related Disease Score Top Affiliating Genes
1 chromosome 22q11.2 deletion syndrome, distal 12.2
2 digeorge syndrome/velocardiofacial syndrome complex 2 11.8
3 digeorge syndrome 2 11.8
4 velocardiofacial syndrome 11.4
5 hypoparathyroidism 11.2
6 duarte variant galactosemia 11.0
7 chromosome 10p deletion 11.0
8 hypoparathyroidism, familial isolated 10.8
9 omenn syndrome 10.8
10 tetralogy of fallot 10.0
11 pharyngitis 9.9
12 heart disease 9.9
13 lymphoma 9.8
14 esophageal atresia 9.8
15 monosomy 22 9.8
16 right aortic arch 9.8
17 severe combined immunodeficiency 9.8
18 esophagitis 9.8
19 graves' disease 9.8
20 influenza 9.7
21 mumps 9.7
22 epilepsy 9.7
23 measles 9.7
24 endotheliitis 9.7
25 rubella 9.7
26 schizophrenia 9.7
27 hemolytic anemia 9.7
28 thrombocytopenia 9.7
29 laryngotracheitis 9.7
30 retinitis 9.7
31 pancreatitis 9.7
32 pneumonia 9.7
33 thyroiditis 9.7
34 laryngomalacia 9.6
35 fetal alcohol syndrome 9.6
36 azoospermia 9.6
37 autoimmune hemolytic anemia 9.6
38 severe combined immune deficiency 9.6
39 panniculitis 9.6
40 mediastinitis 9.6
41 arthritis 9.6
42 myelomeningocele 9.6
43 ventricular septal defect 9.6
44 appendicitis 9.6
45 aneurysm 9.6
46 b-cell lymphomas 9.6
47 osteomyelitis 9.6
48 squamous cell carcinoma 9.6
49 congenital microgastria 9.6
50 bipolar disorder 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:

54

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

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

Endocrine Features:
thymic hypoplasia
parathyroid hypoplasia
parathyroid absence
thymic aplasia
accessory thyroid tissue
more
Head And Neck- Mouth:
cleft palate
bifid uvula
high arched palate

Head And Neck- Nose:
short philtrum
blunted nose

Cardiovascular- Heart:
ventricular septal defect
tetralogy of fallot
interrupted aortic arch
right aortic arch
truncus arteriosus
more
Neurologic- Behavioral Psychiatric Manifestations:
attention deficit disorder
bipolar 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

Abdomen- External Features:
umbilical hernia
femoral hernia

Head And Neck- Face:
micrognathia

Head And Neck- Eyes:
hypertelorism
short palpebral fissures
sclerocornea
posterior embryotoxon
amblyopia
more
Cardiovascular- Vascular:
patent ductus arteriosus

Genitourinary- External Genitalia Male:
inguinal hernia

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 all 49)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 scoliosis 32 HP:0002650
3 acne 32 very rare (1%) HP:0001061
4 recurrent infections 32 HP:0002719
5 umbilical hernia 32 HP:0001537
6 seizures 32 HP:0001250
7 low-set ears 32 HP:0000369
8 micrognathia 32 HP:0000347
9 hypertelorism 32 HP:0000316
10 cleft palate 32 HP:0000175
11 patent ductus arteriosus 32 HP:0001643
12 global developmental delay 32 HP:0001263
13 hydronephrosis 32 HP:0000126
14 sclerocornea 32 HP:0000647
15 short philtrum 32 HP:0000322
16 inguinal hernia 32 HP:0000023
17 bifid uvula 32 HP:0000193
18 ventricular septal defect 32 HP:0001629
19 tetralogy of fallot 32 HP:0001636
20 esotropia 32 HP:0000565
21 posterior embryotoxon 32 HP:0000627
22 cholelithiasis 32 HP:0001081
23 amblyopia 32 HP:0000646
24 schizophrenia 32 very rare (1%) HP:0100753
25 unilateral renal agenesis 32 HP:0000122
26 renal dysplasia 32 HP:0000110
27 tetany 32 HP:0001281
28 hypocalcemia 32 HP:0002901
29 obesity 32 HP:0001513
30 blepharophimosis 32 HP:0000581
31 hypothyroidism 32 HP:0000821
32 nasal speech 32 HP:0001611
33 interrupted aortic arch 32 HP:0011611
34 seborrheic dermatitis 32 HP:0001051
35 exotropia 32 HP:0000577
36 parathyroid hypoplasia 32 HP:0000860
37 high, narrow palate 32 HP:0002705
38 impaired t cell function 32 HP:0005435
39 delayed speech and language development 32 HP:0000750
40 attention deficit hyperactivity disorder 32 HP:0007018
41 truncus arteriosus 32 HP:0001660
42 short palpebral fissure 32 HP:0012745
43 femoral hernia 32 HP:0100541
44 bipolar affective disorder 32 HP:0007302
45 specific learning disability 32 HP:0001328
46 abnormality of the middle ear 32 HP:0000370
47 abnormality of the thymus 32 HP:0000777
48 parathyroid agenesis 32 HP:0008211
49 right aortic arch with mirror image branching 32 HP:0002627

Drugs & Therapeutics for Digeorge Syndrome

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

(show top 50) (show all 76)
id 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 Phase 4 50-67-9 5202
14 Serotonin Agents Phase 4
15 Serotonin Antagonists Phase 4
16 Tranquilizing Agents Phase 4
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 Phase 2 52-24-4 5453
22
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
23
Daclizumab Approved, Investigational Phase 1, Phase 2 152923-56-3
24
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
25
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
26
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2 128794-94-5 5281078
27
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
28
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
29
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
30
Vidarabine Approved Phase 2 24356-66-9 32326 21704
31 Hormones Phase 1, Phase 2
32 Alkylating Agents Phase 2
33 Antimetabolites Phase 2
34 Antimetabolites, Antineoplastic 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
40 Antibiotics, Antitubercular Phase 1, Phase 2
41 Antiemetics Phase 1, Phase 2
42 Antifungal Agents Phase 1, Phase 2
43 Anti-Infective Agents Phase 1, 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
49 Autonomic Agents Phase 1, Phase 2
50 Calcineurin Inhibitors Phase 1, Phase 2

Interventional clinical trials:

(show all 32)

id 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 Parathyroid and Thymus Transplantation in DiGeorge #931 Active, not recruiting NCT00566488 Phase 1
11 Thymus Transplantation With Immunosuppression Active, not recruiting NCT00579709 Phase 1
12 Serum-Free Thymus Transplantation in DiGeorge Anomaly Terminated NCT00849888 Phase 1
13 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
14 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
15 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
16 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
17 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
18 Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome Completed NCT00917189
19 Cognitive Remediation in 22q11DS Completed NCT01781923
20 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
21 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
22 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
23 Non-Invasive Chromosomal Evaluation of 22q11.2 Recruiting NCT02541058
24 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
25 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Recruiting NCT02787486
26 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
27 Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
28 Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome Active, not recruiting NCT02634671
29 Thymus Transplantation Safety-Efficacy Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
30 Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study Enrolling by invitation NCT02890472
31 Social Cognition Training and Cognitive Remediation Not yet recruiting NCT03284060
32 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:

id Genetic test Affiliating Genes
1 Digeorge Sequence 29
2 Digeorge Syndrome 24

Anatomical Context for Digeorge Syndrome

MalaCards organs/tissues related to Digeorge Syndrome:

39
Thymus, Heart, T Cells, Kidney, Bone, Thyroid, Whole Blood

Publications for Digeorge Syndrome

Articles related to Digeorge Syndrome:

(show top 50) (show all 392)
id Title Authors Year
1
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. ( 28121514 )
2017
2
DiGeorge Syndrome Associated with Azoospermia: First case in the literature. ( 28861318 )
2017
3
Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene DeterminantsA ofA Phenotype. ( 28456345 )
2017
4
A case of atypical, complete DiGeorge syndrome without 22q11A mutation. ( 28477796 )
2017
5
Thymus Transplantation for Complete Digeorge Syndrome: European Experience. ( 28400115 )
2017
6
Genetics: Genetic and functional studies reveal genetic drivers of renal disease in DiGeorge syndrome. ( 28163308 )
2017
7
Overexpression of Drosha, DiGeorge syndrome critical region gene 8 (DGCR8), and Dicer mRNAs in the pathogenesis of psoriasis. ( 28342199 )
2017
8
Treatment of Comorbid Bipolar Disorder Improves Disabilities and Neuropsychological Functioning in DiGeorge Syndrome: A Case Report. ( 28926351 )
2017
9
Appendicitis Caused by Primary Varicella Zoster Virus Infection in a Child with DiGeorge Syndrome. ( 28900551 )
2017
10
Cardiac rehabilitation in an adolescent with Digeorge syndrome: a case report. ( 27858403 )
2016
11
Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome. ( 28173146 )
2016
12
Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome. ( 27444175 )
2016
13
Dermatological clues to the diagnosis of atypical complete DiGeorge syndrome. ( 28329565 )
2016
14
Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome. ( 28105375 )
2016
15
Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions. ( 26875746 )
2016
16
Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome. ( 27506981 )
2016
17
Treatment of Schizophrenia by Clozapine in an Adolescent Girl with DiGeorge Syndrome. ( 27305589 )
2016
18
Improvement in Neurocognitive Manifestations with Short-term Multidisciplinary Intervention in DiGeorge Syndrome. ( 27771655 )
2016
19
Pancreatic Panniculitis in an 18-Month-Old with Complete DiGeorge Syndrome. ( 27040037 )
2016
20
Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations. ( 26755698 )
2016
21
Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice. ( 25806139 )
2015
22
Vaccine Responses and Immunologic Characteristics of Pediatric Patients With DiGeorge Syndrome. ( 25573949 )
2015
23
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome? ( 26793401 )
2015
24
Undiagnosed DiGeorge syndrome presenting in middle age with an aortic root aneurysm and chronic dissection. ( 26392444 )
2015
25
Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report. ( 26254176 )
2015
26
Absent Aortic Valve in DiGeorge Syndrome. ( 26230226 )
2015
27
Revision Surgery in Permanent Patellar Dislocation in DiGeorge Syndrome. ( 26783479 )
2015
28
Fever and Renal Failure in a Child With DiGeorge Syndrome and Tetralogy of Fallot. ( 26407263 )
2015
29
Dilated cardiomyopathy: a preventable presentation of DiGeorge Syndrome. ( 27070888 )
2015
30
Post-childhood Presentation and Diagnosis of DiGeorge Syndrome. ( 26116353 )
2015
31
Milk-alkali-induced pancreatitis in a chronically hypocalcemic patient with DiGeorge syndrome. ( 25498850 )
2015
32
Microprocessor Complex Subunit DiGeorge Syndrome Critical Region Gene 8 (Dgcr8) Is Required for Schwann Cell Myelination and Myelin Maintenance. ( 26272614 )
2015
33
Disseminated Mycobacterium kansasii disease in complete DiGeorge syndrome. ( 26048260 )
2015
34
Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome. ( 25410658 )
2015
35
Molecular mechanisms of functional natural killer deficiency in patients with partial DiGeorge syndrome. ( 25748067 )
2015
36
Laryngotracheal reconstruction in glottic-subglottic stenosis associated with DiGeorge syndrome in a four and a half-month-old infant. ( 26015653 )
2015
37
"FISHed" out the diagnosis: A case of DiGeorge syndrome. ( 26489877 )
2015
38
DiGeorge syndrome who developed lymphoproliferative mediastinal mass. ( 25861334 )
2015
39
Anaesthesia and orphan disease: 22q11.2 microdeletion disorder (DiGeorge syndrome). ( 26479513 )
2015
40
Resolution of airflow obstruction on polysomnography after laryngotracheal reconstruction with anterior tracheal wall suspension in a patient with DiGeorge Syndrome. ( 25129846 )
2014
41
The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome. ( 25485546 )
2014
42
Association of juvenile idiopathic arthritis and digeorge syndrome; a case report. ( 25562032 )
2014
43
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
44
Inflammatory Bowel Disease and Diverticulosis in an Adolescent with DiGeorge Syndrome. ( 25023577 )
2014
45
p53 suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome. ( 25197075 )
2014
46
Live vaccine use and safety in DiGeorge syndrome. ( 24685951 )
2014
47
Perioperative management of patients with DiGeorge syndrome undergoing cardiac surgery. ( 24461359 )
2014
48
Clinical and immunophenotypic features of atypical complete DiGeorge syndrome. ( 22978387 )
2013
49
The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome). ( 24565705 )
2013
50
Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. ( 23454892 )
2013

Variations for Digeorge Syndrome

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

71
id Symbol AA change Variation ID SNP ID
1 TBX1 p.Gly310Ser VAR_034545 rs41298838

ClinVar genetic disease variations for Digeorge Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBX1 NM_080647.1(TBX1): c.928G> A (p.Gly310Ser) single nucleotide variant Pathogenic rs41298838 GRCh37 Chromosome 22, 19753444: 19753444

Copy number variations for Digeorge Syndrome from CNVD:

7 (show all 27)
id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.02 GSC2 HIRA LZTR1 TBX1 ZNF74

Sources for Digeorge Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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