DGS
MCID: DGR001
MIFTS: 64

Digeorge Syndrome (DGS)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Digeorge Syndrome

MalaCards integrated aliases for Digeorge Syndrome:

Name: Digeorge Syndrome 56 12 74 52 25 58 73 36 13 54 43 15 39 71
22q11.2 Deletion Syndrome 12 74 24 52 25 58 36
Shprintzen Syndrome 52 25 58 29 6 71
Conotruncal Anomaly Face Syndrome 52 25 58 29
Digeorge Sequence 12 58 29 6
Chromosome 22q11.2 Deletion Syndrome 56 52 73
Cayler Cardiofacial Syndrome 52 25 58
Velocardiofacial Syndrome 52 25 58
Sedlackova Syndrome 52 25 58
Third and Fourth Pharyngeal Pouch Syndrome 56 73
Autosomal Dominant Opitz G/bbb Syndrome 52 25
Hypoplasia of Thymus and Parathyroids 56 73
Velo-Cardio-Facial Syndrome 25 54
22q11.2ds 24 25
Catch22 52 25
Vcfs 52 25
Dgs 56 73
Pharyngeal Pouch Syndrome 12
Deletion 22q11.2 Syndrome 25
Microdeletion 22q11.2 58
Di George's Syndrome 74
Digeorge's Syndrome 12
Di-George Syndrome 29
Monosomy 22q11 58
Takao Syndrome 58
Catch 22 58
22q11ds 58

Characteristics:

Orphanet epidemiological data:

58
22q11.2 deletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: any age;

OMIM:

56
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:

31
digeorge syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is complete in the majority of individuals with 22q11.2ds; variability is marked. nested deletions are often familial and have reduced penetrance and/or a milder expression.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Rare renal diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:11198
OMIM 56 188400
ICD9CM 34 279.11
MeSH 43 D004062
NCIt 49 C2989
ICD10 32 D82.1 Q38.7
MESH via Orphanet 44 D058165
ICD10 via Orphanet 33 D82.1
UMLS via Orphanet 72 C0012236 C0220704 C0431406 more
Orphanet 58 ORPHA567
SNOMED-CT via HPO 68 10629009 111266001 11381005 more
UMLS 71 C0012236 C0220704

Summaries for Digeorge Syndrome

Genetics Home Reference : 25 22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. 22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. The features of this syndrome vary widely, even among affected members of the same family. People with 22q11.2 deletion syndrome commonly have heart abnormalities that are often present from birth, recurrent infections caused by problems with the immune system, and distinctive facial features. In affected individuals, the muscles that form the roof of the mouth (palate) may not close completely, even though the tissue covering them does, resulting in a condition called submucosal cleft palate. The abnormal palate is often highly arched and there may be a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula). Submucosal cleft palate can also interfere with normal speech by causing air to come out of the nose during speech, leading to nasal-sounding speech. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, and hearing loss. Skeletal differences are possible, including mild short stature and, less frequently, abnormalities of the spinal bones. Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild intellectual disability or learning disabilities. Older affected individuals have difficulty reading, performing tasks involving math, and problem solving. Children with this condition often need help changing and adapting their behaviors when responding to situations. Additionally, affected children are more likely than children without 22q11.2 deletion syndrome to have attention-deficit/hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorder that affect communication and social interaction. Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.

MalaCards based summary : Digeorge Syndrome, also known as 22q11.2 deletion syndrome, is related to velocardiofacial syndrome and opitz-gbbb syndrome. An important gene associated with Digeorge Syndrome is TBX1 (T-Box Transcription Factor 1). The drugs Methylphenidate and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include heart, thymus and t cells, and related phenotypes are muscular hypotonia and wide nasal bridge

Disease Ontology : 12 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.

NIH Rare Diseases : 52 22q11.2 deletion syndrome is a disorder that involves many different areas of the body and can vary greatly in severity among people with the condition. Signs and symptoms may include: cleft palate , heart defects , recurrent infections, unique facial characteristics, feeding problems, kidney abnormalities, hypoparathyroidism , thrombocytopenia , scoliosis , hearing loss , developmental delay , and learning disabilities. People with this condition are also more likely to develop certain autoimmune disorders and personality disorders. 22q11.2 deletion syndrome is caused by a deletion of a small part of chromosome 22 near the middle of the chromosome at a location known as q11.2. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent. It is inherited in an autosomal dominant manner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.

OMIM : 56 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)

KEGG : 36 DiGeorge syndrome (DGS) is a primary immunodeficiency disease characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. This syndrome is usually associated with hypocalcemia resulting from hypoparathyroidism. In most cases the initial symptom is tetany caused by hypocalcemia within 24-48 hours after birth, with symptoms by immune abnormality appearing later. Most patients with this syndrome have a genomic deletion of chromosome 22q11, including the DiGeorge critical region (DGCR). A small number of cases of DGS have defects in other chromosomes, notably 10p13. Approximately 17% of patients with the phenotypic features of this syndrome have no detectable genomic deletion. Several mutations in TBX1 have been identified recently in non-deleted patients, including missense and frameshift mutations.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a... more...

GeneReviews: NBK1523

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 611)
# Related Disease Score Top Affiliating Genes
1 velocardiofacial syndrome 34.6 UFD1 TBX1 PRODH HIRA GP1BB GNB1L
2 opitz-gbbb syndrome 33.6 TBX1 PRODH GP1BB
3 tetralogy of fallot 32.0 UFD1 TBX1 PRODH LZTR1 HIRA GP1BB
4 heart septal defect 31.7 TBX1 PRODH HIRA DGCR5
5 t-cell immunodeficiency with thymic aplasia 31.3 TBX1 PRODH DGCR5
6 patent ductus arteriosus 1 31.1 TBX1 PRODH HIRA
7 chromosomal deletion syndrome 31.1 UFD1 TBX1 PRODH HIRA DGCR8 DGCR6L
8 atrial heart septal defect 31.1 TBX1 PRODH LZTR1 HIRA
9 chromosome 22q11.2 duplication syndrome 31.1 UFD1 TBX1 PRODH LZTR1 HIRA DGCR6L
10 hyperprolinemia 31.0 PRODH DGCR6L DGCR5 COMT
11 hyperprolinemia, type i 30.9 PRODH DGCR6L DGCR5
12 phobia, specific 30.8 PRODH COMT
13 schizophreniform disorder 30.8 PRODH COMT
14 thymic dysplasia 30.7 PRODH HIRA
15 schizotypal personality disorder 30.4 PRODH COMT
16 goldberg-shprintzen syndrome 12.8
17 digeorge syndrome/velocardiofacial syndrome complex 2 12.5
18 duarte variant galactosemia 12.0
19 hypoparathyroidism 11.7
20 mowat-wilson syndrome 11.7
21 aortic arch interruption 11.6
22 chromosome 22q11.2 deletion syndrome, distal 11.5
23 omenn syndrome 11.5
24 chromosome 15q24 deletion syndrome 11.5
25 polymicrogyria, bilateral perisylvian, x-linked 11.4
26 selective igm deficiency disease 11.4
27 chromosome 8p23.1 deletion 11.3
28 opitz gbbb syndrome, type ii 11.2
29 takayasu arteritis 11.2
30 chromosomal disease 10.9 TBX1 PRODH HIRA DGCR8 DGCR5 COMT
31 chromosomal duplication syndrome 10.8 TBX1 PRODH DGCR6L DGCR5
32 van den ende-gupta syndrome 10.8 PRODH LZTR1 GP1BB DGCR2
33 orofacial cleft 10.7 TBX1 PRODH HIRA DGCR5
34 ichthyosis, congenital, autosomal recessive 9 10.7 TBX1 HIRA COMT
35 helix syndrome 10.7
36 specific developmental disorder 10.6 PRODH DGCR5 COMT
37 substance-induced psychosis 10.6 PRODH COMT
38 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.6 PRODH GP1BB
39 situs inversus 10.4
40 dextrocardia 10.4
41 dextrocardia with situs inversus 10.4
42 major affective disorder 1 10.4
43 laryngeal web, familial 10.4
44 ventricular septal defect 10.4
45 hirschsprung disease 1 10.4
46 cleft palate, isolated 10.4
47 rapidly involuting congenital hemangioma 10.3
48 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
49 t cell deficiency 10.3
50 benign childhood occipital epilepsy, panayiotopoulos type 10.3

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



Diseases related to Digeorge Syndrome

Symptoms & Phenotypes for Digeorge Syndrome

Human phenotypes related to Digeorge Syndrome:

58 31 (show top 50) (show all 158)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
4 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
5 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
6 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
7 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
8 atrial septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001631
9 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
10 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
11 tetralogy of fallot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001636
12 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
13 hypoplasia of the thymus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000778
14 abnormal pulmonary valve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001641
15 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
16 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
17 abnormality of the pharynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0000600
18 nasal speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001611
19 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
20 truncus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001660
21 platybasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002691
22 abnormal aortic arch morphology 31 hallmark (90%) HP:0012303
23 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
24 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
25 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
26 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
27 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
28 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
29 acne 58 31 very rare (1%) Frequent (79-30%) HP:0001061
30 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
31 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
32 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
33 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
34 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
35 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
36 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
37 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
38 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
39 abnormality of the tonsils 58 31 frequent (33%) Frequent (79-30%) HP:0100765
40 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
41 small earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0000385
42 posterior embryotoxon 58 31 frequent (33%) Frequent (79-30%) HP:0000627
43 tetany 58 31 frequent (33%) Frequent (79-30%) HP:0001281
44 renal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000089
45 hypoparathyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000829
46 seborrheic dermatitis 58 31 frequent (33%) Frequent (79-30%) HP:0001051
47 hypocalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0002901
48 impaired t cell function 58 31 frequent (33%) Frequent (79-30%) HP:0005435
49 occipital myelomeningocele 58 31 frequent (33%) Frequent (79-30%) HP:0007271
50 corneal neovascularization 58 31 frequent (33%) Frequent (79-30%) HP:0011496

Symptoms via clinical synopsis from OMIM:

56
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
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 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

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

Clinical features from OMIM:

188400

Drugs & Therapeutics for Digeorge Syndrome

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

(show top 50) (show all 100)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
2
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
5
Acetaminophen Approved Phase 4 103-90-2 1983
6
Ibuprofen Approved Phase 4 15687-27-1 3672
7
Morphine Approved, Investigational Phase 4 57-27-2 5288826
8
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
9
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
10 Dopamine Agents Phase 4
11 Dopamine Antagonists Phase 4
12 Central Nervous System Stimulants Phase 4
13 Psychotropic Drugs Phase 4
14 Antipsychotic Agents Phase 4
15 Neurotransmitter Agents Phase 4
16 Antirheumatic Agents Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Narcotics Phase 4
19 Analgesics, Opioid Phase 4
20 Analgesics Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Antipyretics Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
25
Mineral oil Approved, Vet_approved Phase 2, Phase 3 8042-47-5
26
Tocopherol Approved, Investigational Phase 2, Phase 3 1406-66-2, 54-28-4 14986
27
Oxycodone Approved, Illicit, Investigational Phase 3 76-42-6 5284603
28
Tapentadol Approved Phase 3 175591-23-8 9838022
29
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
30
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9 14985
31 Tocotrienol Investigational Phase 2, Phase 3 6829-55-6
32 Vitamins Phase 2, Phase 3
33 Omega 3 Fatty Acid Phase 2, Phase 3
34 Tocopherols Phase 2, Phase 3
35 Tocotrienols Phase 2, Phase 3
36 Adrenergic Agents Phase 3
37 Calcium, Dietary Phase 3
38
Calcium Nutraceutical Phase 3 7440-70-2 271
39
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
40
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
41
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
42
Diphenhydramine Approved, Investigational Phase 1, Phase 2 58-73-1, 147-24-0 3100
43
Mycophenolic acid Approved Phase 2 24280-93-1 446541
44
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
45
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
46
Melphalan Approved Phase 2 148-82-3 460612 4053
47
alemtuzumab Approved, Investigational Phase 2 216503-57-0
48 Cyclosporins Phase 2
49 Immunologic Factors Phase 2
50 Immunosuppressive Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 Study of Curette Use for Obtaining Restoration of Vertebral Body Anatomy in Balloon Kyphoplasty Completed NCT00810043 Phase 4
2 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
3 Radiofrequency Ablation of the Medial Branch Nerve as a Novel Treatment for Posterior Element Pain From Vertebral Compression Fractures Recruiting NCT03651804 Phase 4 Non-steroidal anti-inflammatory drugs;Bisphosphonates;Acetaminophen;Opioids
4 Evaluation of Vertebral Compression Fracture Fixation With RF Kyphoplasty in Patients With Multiple Myeloma Withdrawn NCT01410929 Phase 4
5 Investigational Percutaneous Vertebroplasty Efficacy and Safety Trial Unknown status NCT01677806 Phase 3
6 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
7 A Randomized, Double-Blind, Placebo- and Oxycodone Immediate Release (IR)-Controlled Study of Tapentadol IR for the Treatment of Acute Pain Caused by Vertebral Compression Fractures Associated With Osteoporosis Completed NCT00771758 Phase 3 oxycodone IR;placebo;tapentadol IR
8 Evaluation of Safety and Effectiveness of the OsseoFix™ Spinal Fracture Reduction System in Treating Spinal Compression Fracture Terminated NCT00961714 Phase 2, Phase 3
9 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
10 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
11 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
12 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
13 Hematopoietic Cell Transplantation for Treatment of Patients With Primary Immunodeficiencies and Other Nonmalignant Inherited Disorders Using Low-Dose TBI and Fludarabine With or Without Campath® Completed NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
14 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
15 A Phase II Randomized Trial of Combined Radiotherapy and Vertebroplasty to Improve the Quality of Life of Patients With Painful Metastatic Localized Spinal Lesions Not yet recruiting NCT04242589 Phase 2
16 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
17 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
18 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
19 Thymus Transplantation With Immunosuppression, #884 Completed NCT00579709 Phase 1
20 Phase I Serum-Free Cultured Thymus Transplantation in DiGeorge Anomaly, IND9836 Terminated NCT00849888 Phase 1
21 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
22 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
23 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
24 Influence of Medical Clowning in Videofluoroscopic Examination of Pediatric Speech Disorder Unknown status NCT02701322
25 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
26 Use of Dual-energy CT in Detecting Bone Marrow Edema of Vertebral Compression Fractures Unknown status NCT01281826
27 A Randomised Sham Controlled Trial of Vertebroplasty for Painful Chronic Osteoporotic Vertebral Fractures Unknown status NCT01963039
28 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
29 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
30 Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma Completed NCT02541058
31 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
32 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
33 Facial Expression Perception by Intensity in Schizophrenia and 22q11.2 Deletion Syndrome: Neural Electrophysiological Evidence by Means of Fast Periodic Visual Stimulation Completed NCT02634671
34 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
35 Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q11.2-Hemideletion Syndrome Completed NCT00105274
36 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
37 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
38 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
39 A Multicenter, Prospective, Randomized, Controlled Study to Compare Balloon Kyphoplasty to Non-surgical Fracture Management in the Treatment of Painful, Acute Vertebral Body Compression Fractures in Cancer Patients Completed NCT00211237
40 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
41 A Prospective and Multicenter Evaluation of Outcomes for Quality of Life and Activities of Daily Living for Balloon Kyphoplasty in the Treatment of Vertebral Compression Fractures Completed NCT01871519
42 Management of Prenatally Diagnosed Isolated Right Aortic Arch: the ARCADE Study Completed NCT04029064
43 Asian Women's Action for Resilience and Empowerment (AWARE) Intervention: Feasibility and Efficacy Trial at Three University Health Services Centers Completed NCT03961633
44 Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome Recruiting NCT02890472
45 Translational 22q11.2:"Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom" Recruiting NCT04141540
46 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02 Recruiting NCT03375359
47 Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight Recruiting NCT01238250
48 Reducing the Abuse Liability of Prescription Opioids in Recreational Drug Users: A Pilot Study Recruiting NCT03837860 Early Phase 1 Oxycodone/Placebo;Oxycodone/Risperidone;Oxycodone/Ziprasidone
49 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
50 CIQTP Prolongation : Role and Mechanism in Sudden Cardiac Death Recruiting NCT03387072

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 Shprintzen Syndrome 29 DGCR2 DGCR6 DGCR8 ESS2 TBX1
3 Conotruncal Anomaly Face Syndrome 29
4 Di-George Syndrome 29

Anatomical Context for Digeorge Syndrome

MalaCards organs/tissues related to Digeorge Syndrome:

40
Heart, Thymus, T Cells, Kidney, Bone, Brain, Testes

Publications for Digeorge Syndrome

Articles related to Digeorge Syndrome:

(show top 50) (show all 2225)
# Title Authors PMID Year
1
Role of TBX1 in human del22q11.2 syndrome. 6 24 56
14585638 2003
2
Practical guidelines for managing adults with 22q11.2 deletion syndrome. 24 6 61
25569435 2015
3
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. 6 56
16684884 2006
4
Graves' disease in patients with 22q11.2 deletion. 61 56 24
11743521 2001
5
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). 24 56 61
11713452 2001
6
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). 52 61 24
21200182 2011
7
Premature death in adults with 22q11.2 deletion syndrome. 24 52 61
19246480 2009
8
Clinical features of 78 adults with 22q11 Deletion Syndrome. 24 56
16208694 2005
9
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. 56 24
12837874 2003
10
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. 56 54 61
11242110 2001
11
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. 61 54 56
11239417 2001
12
Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. 61 54 56
8733130 1996
13
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. 61 56
28121514 2017
14
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome. 61 56
23765047 2014
15
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. 61 56
23453669 2013
16
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. 56 61
20503320 2010
17
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. 61 56
19805316 2009
18
Genetic compensation in a human genomic disorder. 56 61
19297573 2009
19
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. 56 61
18324686 2008
20
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. 61 56
17676598 2007
21
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 6 61
17273972 2007
22
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. 61 56
16900388 2006
23
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. 56 61
16513880 2006
24
Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome. 61 56
16542388 2006
25
Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome. 56 61
15889418 2005
26
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. 61 56
15190012 2004
27
Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. 56 61
12563036 2003
28
VEGF: a modifier of the del22q11 (DiGeorge) syndrome? 61 56
12539040 2003
29
DiGeorge syndrome: the use of model organisms to dissect complex genetics. 61 56
12351571 2002
30
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. 61 56
11709542 2001
31
Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region. 61 56
11309372 2001
32
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. 56 61
11242049 2001
33
Deconstructing DiGeorge syndrome. 61 56
11242098 2001
34
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. 56 61
11242111 2001
35
Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region. 56 61
10963672 2000
36
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. 61 56
10699172 2000
37
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. 61 56
10592069 1999
38
Transplantation of thymus tissue in complete DiGeorge syndrome. 61 56
10523153 1999
39
Congenital heart disease in mice deficient for the DiGeorge syndrome region. 56 61
10517636 1999
40
22q11.2 Deletion Syndrome 6 61
20301696 1999
41
B-cell lymphoma associated with DiGeorge syndrome. 56 61
10412828 1999
42
A common molecular basis for rearrangement disorders on chromosome 22q11. 61 56
10369860 1999
43
Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance. 56 61
9511978 1998
44
Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. 56 61
9463325 1998
45
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. 61 56
9350810 1997
46
Nasal dimple as part of the 22q11.2 deletion syndrome. 61 56
9096759 1997
47
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. 56 61
8644734 1996
48
Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity. 56 61
8574419 1995
49
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. 56 61
7670464 1995
50
Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. 61 56
7607662 1995

Variations for Digeorge Syndrome

ClinVar genetic disease variations for Digeorge Syndrome:

6 (show top 50) (show all 105) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 16 genes: TBX1 NC_000022.10:g.(?_18900668)_(19770565_?)deldeletion Pathogenic 455788 22:18900668-19770565
2 subset of 16 genes: TBX1 NC_000022.10:g.(?_18910310)_(19770565_?)deldeletion Pathogenic 526039 22:18910310-19770565
3 TBX1 NC_000022.11:g.(?_19755901)_(19783042_?)deldeletion Pathogenic 583599 22:19743424-19770565 22:19755901-19783042
4 TBX1 NM_080647.1(TBX1):c.292A>T (p.Lys98Ter)SNV Pathogenic 526036 rs1555895466 22:19748685-19748685 22:19761162-19761162
5 subset of 13 genes: TBX1 NC_000022.11:g.(?_19722428)_(19975757_?)deldeletion Pathogenic 584158 22:19709951-19963280 22:19722428-19975757
6 subset of 46 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18901004-21408430)copy number loss Pathogenic 625586 22:18901004-21408430
7 subset of 47 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18892575-21460220)copy number gain Pathogenic 625588 22:18892575-21460220
8 subset of 28 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18918741-20311922)copy number loss Pathogenic 625620 22:18918741-20311922
9 subset of 46 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18912403-21431174)copy number loss Pathogenic 625621 22:18912403-21431174
10 subset of 46 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18912870-21431174)copy number loss Pathogenic 625625 22:18912870-21431174
11 subset of 47 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18892575-21460220)copy number loss Pathogenic 625679 22:18892575-21460220
12 subset of 47 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18892575-21460220)copy number loss Pathogenic 625684 22:18892575-21460220
13 subset of 49 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18900755-21800277)copy number loss Pathogenic 625739 22:18900755-21800277
14 subset of 46 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1copy number loss Pathogenic 636280 22:18912231-21465672
15 subset of 51 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1copy number loss Pathogenic 636281 22:18631364-21800471
16 subset of 46 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1copy number loss Pathogenic 636282 22:18922151-21449911
17 subset of 51 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1copy number loss Pathogenic 636283 22:18636749-21800471
18 subset of 49 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1copy number loss Pathogenic 636284 22:18919477-21800471
19 TBX1 NC_000022.11:g.(?_19755950)_(19759697_?)deldeletion Pathogenic 640457 22:19743473-19747220 22:19755950-19759697
20 TBX1 NC_000022.11:g.(?_19755901)_(19766877_?)deldeletion Pathogenic 660156 22:19743424-19754400 22:19755901-19766877
21 subset of 47 genes: CRKL , TBX1 GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1copy number loss Pathogenic 666443 22:18661724-21505417
22 subset of 78 genes: CRKL , TBX1 deletion Pathogenic 812919 22:18475385-23764120
23 subset of 11 genes: TBX1 NC_000022.10:g.(?_19163623)_(19770565_?)deldeletion Pathogenic 831644 22:19163623-19770565
24 TBX1 NC_000022.11:g.(?_19755901)_(19759687_?)deldeletion Pathogenic 831941 22:19743424-19747210
25 TBX1 TBX1, 23-BP DEL, NT1320deletion Pathogenic 7566
26 TBX1 NM_080647.1(TBX1):c.582C>G (p.His194Gln)SNV Pathogenic 7567 rs74315522 22:19751747-19751747 22:19764224-19764224
27 TBX1 NM_080647.1(TBX1):c.1132G>A (p.Gly378Ser)SNV Conflicting interpretations of pathogenicity 518829 rs565927787 22:19754034-19754034 22:19766511-19766511
28 TBX1 NM_080647.1(TBX1):c.1325G>C (p.Arg442Pro)SNV Conflicting interpretations of pathogenicity 518598 rs755937050 22:19754227-19754227 22:19766704-19766704
29 TBX1 NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp)SNV Conflicting interpretations of pathogenicity 518715 rs781731042 22:19753951-19753951 22:19766428-19766428
30 TBX1 NM_080647.1(TBX1):c.385G>A (p.Glu129Lys)SNV Conflicting interpretations of pathogenicity 488618 rs1445910672 22:19748778-19748778 22:19761255-19761255
31 TBX1 NM_080647.1(TBX1):c.1397C>T (p.Ala466Val)SNV Conflicting interpretations of pathogenicity 431834 rs753613632 22:19754299-19754299 22:19766776-19766776
32 TBX1 NM_080647.1(TBX1):c.928G>T (p.Gly310Cys)SNV Uncertain significance 455794 rs41298838 22:19753444-19753444 22:19765921-19765921
33 TBX1 NM_005992.1(TBX1):c.1009+500_1009+502delinsAGGGCCGGCGGCindel Uncertain significance 518617 rs1555896709 22:19754025-19754027 22:19766502-19766504
34 TBX1 NM_080647.1(TBX1):c.684C>T (p.His228=)SNV Uncertain significance 518811 rs200021644 22:19751849-19751849 22:19764326-19764326
35 TBX1 NM_005992.1(TBX1):c.131_133CGC[3] (p.Pro47_Pro48del)short repeat Uncertain significance 526038 rs886038791 22:19748523-19748528 22:19761000-19761005
36 TBX1 NM_080647.1(TBX1):c.324C>T (p.Ala108=)SNV Uncertain significance 626178 rs757290764 22:19748717-19748717 22:19761194-19761194
37 TBX1 NM_080647.1(TBX1):c.1019A>T (p.Glu340Val)SNV Uncertain significance 572442 rs751917634 22:19753921-19753921 22:19766398-19766398
38 TBX1 NM_080647.1(TBX1):c.1234C>A (p.His412Asn)SNV Uncertain significance 578044 rs985907694 22:19754136-19754136 22:19766613-19766613
39 TBX1 NM_080647.1(TBX1):c.1447G>A (p.Gly483Arg)SNV Uncertain significance 560627 rs541198585 22:19754349-19754349 22:19766826-19766826
40 TBX1 NM_080647.1(TBX1):c.1055C>T (p.Pro352Leu)SNV Uncertain significance 573382 rs1001921296 22:19753957-19753957 22:19766434-19766434
41 TBX1 NM_080647.1(TBX1):c.1169G>A (p.Gly390Glu)SNV Uncertain significance 565634 rs1274082696 22:19754071-19754071 22:19766548-19766548
42 TBX1 NM_080647.1(TBX1):c.243C>A (p.Ser81Arg)SNV Uncertain significance 566953 rs1478778776 22:19748636-19748636 22:19761113-19761113
43 subset of 16 genes: TBX1 NC_000022.10:g.(?_18900668)_(19770565_?)dupduplication Uncertain significance 832346 22:18900668-19770565
44 subset of 16 genes: TBX1 NC_000022.10:g.(?_18910310)_(19770565_?)dupduplication Uncertain significance 830399 22:18910310-19770565
45 TBX1 NM_080647.1(TBX1):c.1187C>T (p.Pro396Leu)SNV Uncertain significance 803643 22:19754089-19754089 22:19766566-19766566
46 TBX1 NM_080647.1(TBX1):c.1309C>T (p.Pro437Ser)SNV Uncertain significance 805626 22:19754211-19754211 22:19766688-19766688
47 TBX1 NM_080647.1(TBX1):c.167_175del (p.Ala56_Pro58del)deletion Uncertain significance 665709 22:19748557-19748565 22:19761034-19761042
48 TBX1 NM_080647.1(TBX1):c.197_202dupshort repeat Uncertain significance 658031 22:19748579-19748580 22:19761056-19761057
49 TBX1 NM_080647.1(TBX1):c.353C>T (p.Ala118Val)SNV Uncertain significance 659701 22:19748746-19748746 22:19761223-19761223
50 TBX1 NM_080647.1(TBX1):c.420T>G (p.Phe140Leu)SNV Uncertain significance 658901 22:19750773-19750773 22:19763250-19763250

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:

7 (show top 50) (show all 58)
# 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 157439 21 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
5 160206 22 11800000 24300000 Copy number CLDN5 Digeorge syndrome
6 160208 22 11800000 24300000 Copy number GP1BB Digeorge syndrome
7 160209 22 11800000 24300000 Copy number INI1 Digeorge syndrome
8 160211 22 11800000 24300000 Copy number SNAP29 Digeorge syndrome
9 160219 22 11800000 24300000 Deletion Digeorge syndrome
10 160226 22 11800000 24300000 Deletion Shprintzen syndrome
11 160238 22 11800000 24300000 Deletion COMT velo-cardio-facial syndrome
12 160243 22 11800000 24300000 Deletion DGCR6 velo-cardio-facial syndrome
13 160251 22 11800000 24300000 Deletion PRODH velo-cardio-facial syndrome
14 160254 22 11800000 24300000 Deletion TBX1 Digeorge syndrome
15 160261 22 11800000 24300000 Microdeletion 22q11.2 microdeletion syndrome
16 160263 22 11800000 24300000 Microdeletion Digeorge syndrome
17 160264 22 11800000 24300000 Microdeletion Digeorge syndrome
18 160267 22 11800000 24300000 Microdeletion Shprintzen syndrome
19 160281 22 11800000 24300000 Microdeletions 22q11.2 microdeletion syndrome
20 160757 22 16300000 20500000 Deletion Digeorge syndrome
21 160774 22 16300000 24300000 Copy number Digeorge syndrome
22 160775 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
23 160776 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
24 160777 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
25 160778 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
26 160779 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
27 160780 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
28 160781 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
29 160803 22 16300000 24300000 Deletion velo-cardio-facial syndrome
30 160804 22 16300000 24300000 Deletion velo-cardio-facial syndrome
31 160805 22 16300000 24300000 Deletion CHEK2 22q11.2 microdeletion syndrome
32 160806 22 16300000 24300000 Deletion GNB1L Digeorge syndrome
33 160807 6 15354505 15630232 Deletion JARID2 Digeorge syndrome
34 160809 22 16300000 24300000 Deletion PRODH Digeorge syndrome
35 160811 22 16300000 24300000 Deletion TBX1 22q11.2 microdeletion syndrome
36 160814 22 16300000 24300000 Deletion TBX1 Digeorge syndrome
37 160816 22 16300000 24300000 Deletion Tbx1 22q11.2 microdeletion syndrome
38 160826 22 16300000 24300000 Heterozygous microdeletion Digeorge syndrome
39 160827 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
40 160828 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
41 160829 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
42 160830 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
43 160831 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
44 160834 22 16300000 24300000 Microdeletion DiGeorge syndrome
45 160836 22 16300000 24300000 Microdeletion Digeorge syndrome
46 160837 22 16300000 24300000 Microdeletion Digeorge syndrome
47 160838 22 16300000 24300000 Microdeletion Digeorge syndrome
48 160841 22 16300000 24300000 Microdeletion Shprintzen syndrome
49 160844 22 16300000 24300000 Microdeletion Velo-cardio-facial syndrome
50 160848 22 16300000 24300000 Microdeletion velo-cardio-facial 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 8.8 TBX1 SEPTIN5 GNB1L

Sources for Digeorge Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....