DGS
MCID: DGR001
MIFTS: 61

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 58 12 77 54 26 60 76 38 13 56 45 15 41 74
22q11.2 Deletion Syndrome 12 77 25 54 26 60 38
Shprintzen Syndrome 54 26 60 74
Digeorge Sequence 12 60 30 6
Chromosome 22q11.2 Deletion Syndrome 58 54 76
Conotruncal Anomaly Face Syndrome 54 26 60
Cayler Cardiofacial Syndrome 54 26 60
Velocardiofacial Syndrome 54 26 60
Sedlackova Syndrome 54 26 60
Third and Fourth Pharyngeal Pouch Syndrome 58 76
Autosomal Dominant Opitz G/bbb Syndrome 54 26
Hypoplasia of Thymus and Parathyroids 58 76
Velo-Cardio-Facial Syndrome 26 56
22q11.2ds 25 26
Catch22 54 26
Vcfs 54 26
Dgs 58 76
Pharyngeal Pouch Syndrome 12
Deletion 22q11.2 Syndrome 26
Microdeletion 22q11.2 60
Di George's Syndrome 77
Digeorge's Syndrome 12
Di-George Syndrome 30
Monosomy 22q11 60
Takao Syndrome 60
Catch 22 60
22q11ds 60

Characteristics:

Orphanet epidemiological data:

60
22q11.2 deletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: any age;

OMIM:

58
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:

33
digeorge syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is complete in individuals with 22q112ds; variability is marked...

Classifications:



External Ids:

Disease Ontology 12 DOID:11198
OMIM 58 188400
ICD9CM 36 279.11
MeSH 45 D004062
NCIt 51 C2989
SNOMED-CT 69 77128003
ICD10 34 D82.1 Q38.7
MESH via Orphanet 46 D058165
ICD10 via Orphanet 35 D82.1
UMLS via Orphanet 75 C0012236 C0220704 C0431406 more
Orphanet 60 ORPHA567
SNOMED-CT via HPO 70 10629009 111266001 11381005 more

Summaries for Digeorge Syndrome

OMIM : 58 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 22q11.2 deletion syndrome, is related to velocardiofacial syndrome and tetralogy of fallot. An important gene associated with Digeorge Syndrome is TBX1 (T-Box 1). The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include heart, thymus and t cells, and related phenotypes are low-set ears and muscular hypotonia

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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 22q11.2 deletionsyndrome 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.

UniProtKB/Swiss-Prot : 76 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 : 77 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 296)
# Related Disease Score Top Affiliating Genes
1 velocardiofacial syndrome 31.6 ARVCF COMT DGCR DGCR2 DGCR5 DGCR6
2 tetralogy of fallot 30.6 DGCR HIRA TBX1 UFD1
3 cayler cardiofacial syndrome 12.8
4 goldberg-shprintzen syndrome 12.6
5 chromosome 22q11.2 deletion syndrome, distal 12.6
6 digeorge syndrome/velocardiofacial syndrome complex 2 12.3
7 conotruncal heart malformations 11.8
8 duarte variant galactosemia 11.5
9 hypoparathyroidism 11.4
10 aortic arch interruption 11.4
11 chromosome 15q24 deletion syndrome 11.3
12 mowat-wilson syndrome 11.3
13 polymicrogyria, bilateral perisylvian, x-linked 11.3
14 selective igm deficiency disease 11.3
15 opitz-gbbb syndrome 11.3
16 chromosome 8p23.1 deletion 11.1
17 opitz gbbb syndrome, type ii 11.1
18 hypoparathyroidism, familial isolated 11.1
19 takayasu arteritis 11.1
20 omenn syndrome 11.1
21 chromosome 22q11.2 duplication syndrome 10.4 LZTR1 TBX1
22 situs inversus 10.4
23 dextrocardia with situs inversus 10.4
24 anxiety 10.3
25 cognitive function 1, social 10.3
26 major affective disorder 1 10.3
27 prader-willi syndrome 10.3
28 major affective disorder 8 10.3
29 major affective disorder 7 10.3
30 major affective disorder 9 10.3
31 holoprosencephaly 10.3
32 pemphigus foliaceus 10.3
33 mood disorder 10.3
34 polyhydramnios 10.3
35 pemphigus 10.3
36 bowenoid papulosis 10.2
37 hirschsprung disease 1 10.2
38 palatopharyngeal incompetence 10.2
39 heart disease 10.2
40 parkinson disease, late-onset 10.2
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
42 hemorrhoid 10.2
43 kenny-caffey syndrome 10.2
44 attention deficit-hyperactivity disorder 10.1
45 pol iii-related leukodystrophies 10.1
46 baker-gordon syndrome 10.1
47 sleep apnea 10.1
48 psychotic disorder 10.1
49 evans' syndrome 10.1
50 depression 10.1

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:

60 33 (show top 50) (show all 158)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 dysphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002357
4 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
5 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
6 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
7 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
8 atrial septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001631
9 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
10 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
11 conductive hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000405
12 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
13 hypoplasia of the thymus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000778
14 tetralogy of fallot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001636
15 bulbous nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000414
16 abnormality of the pharynx 60 33 hallmark (90%) Very frequent (99-80%) HP:0000600
17 nasal speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0001611
18 ventricular septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001629
19 truncus arteriosus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001660
20 platybasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002691
21 abnormal pulmonary valve morphology 33 hallmark (90%) HP:0001641
22 abnormal aortic arch morphology 33 hallmark (90%) HP:0012303
23 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
24 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
25 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
26 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
27 chronic otitis media 60 33 frequent (33%) Frequent (79-30%) HP:0000389
28 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
29 carious teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000670
30 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
31 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
32 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
33 acne 60 33 very rare (1%) Frequent (79-30%) HP:0001061
34 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
35 specific learning disability 60 33 frequent (33%) Frequent (79-30%) HP:0001328
36 hypoparathyroidism 60 33 frequent (33%) Frequent (79-30%) HP:0000829
37 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
38 corneal neovascularization 60 33 frequent (33%) Frequent (79-30%) HP:0011496
39 arachnodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001166
40 small earlobe 60 33 frequent (33%) Frequent (79-30%) HP:0000385
41 overfolded helix 60 33 frequent (33%) Frequent (79-30%) HP:0000396
42 posterior embryotoxon 60 33 frequent (33%) Frequent (79-30%) HP:0000627
43 tetany 60 33 frequent (33%) Frequent (79-30%) HP:0001281
44 renal hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000089
45 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
46 seborrheic dermatitis 60 33 frequent (33%) Frequent (79-30%) HP:0001051
47 hypocalcemia 60 33 frequent (33%) Frequent (79-30%) HP:0002901
48 impaired t cell function 60 33 frequent (33%) Frequent (79-30%) HP:0005435
49 occipital myelomeningocele 60 33 frequent (33%) Frequent (79-30%) HP:0007271
50 abnormality of the tonsils 60 33 frequent (33%) Frequent (79-30%) HP:0100765

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Digeorge Syndrome

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

(show top 50) (show all 96)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Early Phase 1 62-31-7, 51-61-6 681
2
Risperidone Approved, Investigational Phase 4,Early Phase 1 106266-06-2 5073
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4 Dopamine Uptake Inhibitors Phase 4
5 Psychotropic Drugs Phase 4,Early Phase 1
6 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Early Phase 1
7 Dopamine Antagonists Phase 4,Early Phase 1
8 Serotonin Antagonists Phase 4,Early Phase 1
9 Neurotransmitter Uptake Inhibitors Phase 4
10 Central Nervous System Stimulants Phase 4
11 Dopamine Agents Phase 4,Early Phase 1
12 Tranquilizing Agents Phase 4,Early Phase 1
13 Antipsychotic Agents Phase 4,Early Phase 1
14 Serotonin Agents Phase 4,Early Phase 1
15 Central Nervous System Depressants Phase 4,Phase 1,Phase 2,Early Phase 1
16
Serotonin Investigational, Nutraceutical Phase 4,Early Phase 1 50-67-9 5202
17
Parathyroid hormone Approved, Investigational Phase 3,Phase 2,Phase 1 9002-64-6
18
Calcium Approved, Nutraceutical Phase 3,Phase 2,Phase 1 7440-70-2 271
19 Calcium, Dietary Phase 3,Phase 2,Phase 1
20
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
21
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
22
alemtuzumab Approved, Investigational Phase 2 216503-57-0
23
Melphalan Approved Phase 2 148-82-3 460612 4053
24
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
25
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643 439492
26
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
27
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
28
Mycophenolic acid Approved Phase 1, Phase 2,Phase 2 24280-93-1 446541
29
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
30
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
31
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
32
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
33
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
34
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
35
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
36
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
37 Hormones Phase 2,Phase 1
38 Immunosuppressive Agents Phase 2,Phase 1
39 Antineoplastic Agents, Alkylating Phase 2
40 Antineoplastic Agents, Immunological Phase 2
41 Antimetabolites Phase 2
42 Antimetabolites, Antineoplastic Phase 2
43 Immunologic Factors Phase 2,Phase 1
44 Alkylating Agents Phase 2
45 Peripheral Nervous System Agents Phase 1, Phase 2,Early Phase 1
46 Analgesics Phase 1, Phase 2,Early Phase 1
47 Anesthetics Phase 2,Phase 1
48 Antineoplastic Agents, Hormonal Phase 1, Phase 2
49 Protective Agents Phase 1, Phase 2
50 Cyclosporins Phase 1, Phase 2,Phase 2

Interventional clinical trials:

(show all 37)
# 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 Terminated 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 Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study Unknown status NCT02890472
17 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
18 Non-Invasive Chromosomal Evaluation of 22q11.2 Unknown status NCT02541058
19 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
20 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
21 Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome Completed NCT00917189 Not Applicable
22 Cognitive Remediation in 22q11DS Completed NCT01781923 Not Applicable
23 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
24 Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome Completed NCT02634671 Not Applicable
25 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
26 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
27 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
28 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
29 Social Cognition Training and Cognitive Remediation Recruiting NCT03284060 Not Applicable
30 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome Recruiting NCT03375359
31 Reducing the Abuse of Opioids in Drug Users Recruiting NCT03837860 Early Phase 1 Oxycodone/Placebo;Oxycodone/Risperidone;Oxycodone/Ziprasidone
32 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
33 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
34 Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
35 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Active, not recruiting NCT02381457
36 Thymus Transplantation Safety-Efficacy Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
37 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 30 TBX1
2 Di-George Syndrome 30

Anatomical Context for Digeorge Syndrome

MalaCards organs/tissues related to Digeorge Syndrome:

42
Heart, Thymus, T Cells, Kidney, Lung, Bone, Brain

Publications for Digeorge Syndrome

Articles related to Digeorge Syndrome:

(show top 50) (show all 1094)
# Title Authors Year
1
Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism. ( 30453155 )
2019
2
22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and/or Palate. ( 29652534 )
2019
3
Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. ( 30565249 )
2019
4
Characteristics and Outcomes of Heart Transplantation in DiGeorge Syndrome. ( 30729260 )
2019
5
Efficacy of Vedolizumab for Inflammatory Bowel Disease in the Setting of DiGeorge Syndrome. ( 30889127 )
2019
6
Glomerulonephritis and nephrotic syndrome in a child with DiGeorge syndrome: Questions. ( 30963281 )
2019
7
Glomerulonephritis and nephrotic syndrome in a child with DiGeorge syndrome: Answers. ( 30963284 )
2019
8
Orthopedic and orthodontic management in a patient with DiGeorge Syndrome and Familial Mediterranean Fever: A case report. ( 31008521 )
2019
9
Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single centre. ( 31015189 )
2019
10
Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion. ( 31033123 )
2019
11
Newborn With Prenatal Diagnosis of Complex Congenital Heart Disease and DiGeorge Syndrome. ( 31046438 )
2019
12
Isolation of the left subclavian artery in an infant with tetralogy of Fallot, right aortic arch and DiGeorge syndrome. Echocardiographic diagnostic case study. ( 31088014 )
2019
13
Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders. ( 30977115 )
2019
14
The 22q11.2 deletion syndrome as a model for idiopathic scoliosis - A hypothesis. ( 31088649 )
2019
15
Scoliosis in association with the 22q11.2 deletion syndrome: an observational study. ( 29627765 )
2019
16
Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening. ( 30268402 )
2019
17
Recent developments in understanding the relationship between 22q11.2 deletion syndrome and psychosis. ( 30394904 )
2019
18
Prevalence, course and psychosis-predictive value of negative symptoms in 22q11.2 deletion syndrome. ( 30414720 )
2019
19
Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome. ( 30515510 )
2019
20
Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns. ( 30554706 )
2019
21
Lymphocyte Apoptosis and FAS Expression in Patients with 22q11.2 Deletion Syndrome. ( 30569262 )
2019
22
Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome. ( 30582277 )
2019
23
Low prevalence of substance use in people with 22q11.2 deletion syndrome. ( 30604657 )
2019
24
Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome. ( 30627818 )
2019
25
Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome. ( 30635960 )
2019
26
Screening for 22q11.2 deletion syndrome by two non-invasive prenatal testing methodologies: A case with discordant results. ( 30638477 )
2019
27
An implicit and reliable neural measure quantifying impaired visual coding of facial expression: evidence from the 22q11.2 deletion syndrome. ( 30718458 )
2019
28
A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR. ( 30733662 )
2019
29
Hypogyrification and its association with cognitive impairment in children with 22q11.2 deletion Syndrome: A preliminary report. ( 30743074 )
2019
30
22q11.2 Deletion Syndrome-Associated Parkinson's Disease. ( 30746410 )
2019
31
Pharyngeal flap using carotid artery mobilization in 22q11.2 deletion syndrome with velopharyngeal insufficiency. ( 30784809 )
2019
32
Individuals with 22q11.2 deletion syndrome show intact prediction but reduced adaptation in responses to repeated sounds: Evidence from Bayesian mapping. ( 30785050 )
2019
33
Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 Deletion Syndrome. ( 30922987 )
2019
34
Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice. ( 30933971 )
2019
35
Surgical Outcomes for the Treatment of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome. ( 30935277 )
2019
36
Lower [18F]fallypride binding to dopamine D2/3 receptors in frontal brain areas in adults with 22q11.2 deletion syndrome: a positron emission tomography study. ( 30935427 )
2019
37
All-cause mortality and survival in adults with 22q11.2 deletion syndrome. ( 30948858 )
2019
38
Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review. ( 30949827 )
2019
39
Lower cortisol levels and attenuated cortisol reactivity to daily-life stressors in adults with 22q11.2 deletion syndrome. ( 30959234 )
2019
40
Abnormal development of early auditory processing in 22q11.2 Deletion Syndrome. ( 30992427 )
2019
41
Palatal evaluation and treatment in 22q11.2 deletion syndrome. ( 31038278 )
2019
42
Bullying and psychosis: The impact of chronic traumatic stress on psychosis risk in 22q11.2 deletion syndrome - a uniquely vulnerable population. ( 31054456 )
2019
43
Education and employment trajectories from childhood to adulthood in individuals with 22q11.2 deletion syndrome. ( 29934817 )
2019
44
Fatal overwhelming postsplenectomy infection due to Streptococcus pneumoniae serotype 10A with atypical polysaccharide capsule in a patient with chromosome 22q11.2 deletion syndrome: A case report. ( 30172727 )
2019
45
Alteration of functional brain architecture in 22q11.2 deletion syndrome - Insights into susceptibility for psychosis. ( 30195053 )
2019
46
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. ( 29265763 )
2018
47
Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome. ( 30093352 )
2018
48
Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome. ( 29040797 )
2018
49
The Neuroanatomy of Autism Spectrum Disorder Symptomatology in 22q11.2 Deletion Syndrome. ( 30272146 )
2018
50
Developmental coordination disorder, psychopathology and IQ in 22q11.2 deletion syndrome. ( 29433607 )
2018

Variations for Digeorge Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 TBX1 p.Gly310Ser VAR_034545 rs41298838

ClinVar genetic disease variations for Digeorge Syndrome:

6 (show top 50) (show all 63)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX1 NM_080647.1(TBX1): c.928G> A (p.Gly310Ser) single nucleotide variant Benign rs41298838 GRCh37 Chromosome 22, 19753444: 19753444
2 TBX1 NM_080647.1(TBX1): c.928G> A (p.Gly310Ser) single nucleotide variant Benign rs41298838 GRCh38 Chromosome 22, 19765921: 19765921
3 TBX1 TBX1, 23-BP DEL, NT1320 deletion Pathogenic
4 TBX1 NM_080647.1(TBX1): c.582C> G (p.His194Gln) single nucleotide variant Pathogenic rs74315522 GRCh37 Chromosome 22, 19751747: 19751747
5 TBX1 NM_080647.1(TBX1): c.582C> G (p.His194Gln) single nucleotide variant Pathogenic rs74315522 GRCh38 Chromosome 22, 19764224: 19764224
6 TBX1 NM_080647.1(TBX1): c.297G> A (p.Ala99=) single nucleotide variant Benign rs72646953 GRCh37 Chromosome 22, 19748690: 19748690
7 TBX1 NM_080647.1(TBX1): c.297G> A (p.Ala99=) single nucleotide variant Benign rs72646953 GRCh38 Chromosome 22, 19761167: 19761167
8 TBX1 NM_080647.1(TBX1): c.813C> T (p.Thr271=) single nucleotide variant Benign/Likely benign rs61730282 GRCh37 Chromosome 22, 19752609: 19752609
9 TBX1 NM_080647.1(TBX1): c.813C> T (p.Thr271=) single nucleotide variant Benign/Likely benign rs61730282 GRCh38 Chromosome 22, 19765086: 19765086
10 TBX1 NM_080647.1(TBX1): c.1397C> T (p.Ala466Val) single nucleotide variant Conflicting interpretations of pathogenicity rs753613632 GRCh37 Chromosome 22, 19754299: 19754299
11 TBX1 NM_080647.1(TBX1): c.1397C> T (p.Ala466Val) single nucleotide variant Conflicting interpretations of pathogenicity rs753613632 GRCh38 Chromosome 22, 19766776: 19766776
12 TBX1 NM_080647.1(TBX1): c.309_311delGAA (p.Lys103del) deletion Benign rs369050575 GRCh38 Chromosome 22, 19761179: 19761181
13 TBX1 NM_080647.1(TBX1): c.309_311delGAA (p.Lys103del) deletion Benign rs369050575 GRCh37 Chromosome 22, 19748702: 19748704
14 TBX1 NM_080647.1(TBX1): c.928G> T (p.Gly310Cys) single nucleotide variant Uncertain significance rs41298838 GRCh37 Chromosome 22, 19753444: 19753444
15 TBX1 NM_080647.1(TBX1): c.928G> T (p.Gly310Cys) single nucleotide variant Uncertain significance rs41298838 GRCh38 Chromosome 22, 19765921: 19765921
16 TBX1 NM_080647.1(TBX1): c.1218C> T (p.Gly406=) single nucleotide variant Uncertain significance rs780344405 GRCh37 Chromosome 22, 19754120: 19754120
17 TBX1 NM_080647.1(TBX1): c.1218C> T (p.Gly406=) single nucleotide variant Uncertain significance rs780344405 GRCh38 Chromosome 22, 19766597: 19766597
18 subset of 16 genes:TBX1 NC_000022.10: g.(?_18900668)_(19770565_?)del deletion Pathogenic GRCh37 Chromosome 22, 18900668: 19770565
19 TBX1 NM_080647.1(TBX1): c.-882C> T single nucleotide variant Benign rs41298629 GRCh37 Chromosome 22, 19743473: 19743473
20 TBX1 NM_080647.1(TBX1): c.-882C> T single nucleotide variant Benign rs41298629 GRCh38 Chromosome 22, 19755950: 19755950
21 TBX1 NM_080647.1(TBX1): c.444C> T (p.Phe148=) single nucleotide variant Benign/Likely benign rs139776757 GRCh37 Chromosome 22, 19750797: 19750797
22 TBX1 NM_080647.1(TBX1): c.444C> T (p.Phe148=) single nucleotide variant Benign/Likely benign rs139776757 GRCh38 Chromosome 22, 19763274: 19763274
23 TBX1 NM_080647.1(TBX1): c.1217G> A (p.Gly406Asp) single nucleotide variant Likely benign rs756543718 GRCh37 Chromosome 22, 19754119: 19754119
24 TBX1 NM_080647.1(TBX1): c.1217G> A (p.Gly406Asp) single nucleotide variant Likely benign rs756543718 GRCh38 Chromosome 22, 19766596: 19766596
25 TBX1 NM_080647.1(TBX1): c.385G> A (p.Glu129Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1445910672 GRCh37 Chromosome 22, 19748778: 19748778
26 TBX1 NM_080647.1(TBX1): c.385G> A (p.Glu129Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1445910672 GRCh38 Chromosome 22, 19761255: 19761255
27 TBX1 NM_080647.1(TBX1): c.492G> A (p.Pro164=) single nucleotide variant Benign/Likely benign rs111754814 GRCh37 Chromosome 22, 19750845: 19750845
28 TBX1 NM_080647.1(TBX1): c.492G> A (p.Pro164=) single nucleotide variant Benign/Likely benign rs111754814 GRCh38 Chromosome 22, 19763322: 19763322
29 TBX1 NM_080647.1(TBX1): c.1049G> A (p.Gly350Asp) single nucleotide variant Uncertain significance rs781731042 GRCh38 Chromosome 22, 19766428: 19766428
30 TBX1 NM_080647.1(TBX1): c.1049G> A (p.Gly350Asp) single nucleotide variant Uncertain significance rs781731042 GRCh37 Chromosome 22, 19753951: 19753951
31 TBX1 NM_080647.1(TBX1): c.1353T> C (p.His451=) single nucleotide variant Benign/Likely benign rs367711718 GRCh38 Chromosome 22, 19766732: 19766732
32 TBX1 NM_080647.1(TBX1): c.1353T> C (p.His451=) single nucleotide variant Benign/Likely benign rs367711718 GRCh37 Chromosome 22, 19754255: 19754255
33 subset of 16 genes:TBX1 NC_000022.10: g.(?_18910310)_(19770565_?)del deletion Pathogenic GRCh37 Chromosome 22, 18910310: 19770565
34 TBX1 NM_080647.1(TBX1): c.140_145delCGCCGC (p.Pro47_Pro48del) deletion Uncertain significance rs886038791 GRCh38 Chromosome 22, 19761010: 19761015
35 TBX1 NM_080647.1(TBX1): c.140_145delCGCCGC (p.Pro47_Pro48del) deletion Uncertain significance rs886038791 GRCh37 Chromosome 22, 19748533: 19748538
36 TBX1 NM_080647.1(TBX1): c.1134C> T (p.Gly378=) single nucleotide variant Uncertain significance rs941116789 GRCh38 Chromosome 22, 19766513: 19766513
37 TBX1 NM_080647.1(TBX1): c.1134C> T (p.Gly378=) single nucleotide variant Uncertain significance rs941116789 GRCh37 Chromosome 22, 19754036: 19754036
38 TBX1 NM_080647.1(TBX1): c.292A> T (p.Lys98Ter) single nucleotide variant Pathogenic rs1555895466 GRCh38 Chromosome 22, 19761162: 19761162
39 TBX1 NM_080647.1(TBX1): c.292A> T (p.Lys98Ter) single nucleotide variant Pathogenic rs1555895466 GRCh37 Chromosome 22, 19748685: 19748685
40 TBX1 NC_000022.11: g.(?_19755901)_(19783042_?)del deletion Pathogenic GRCh38 Chromosome 22, 19755901: 19783042
41 TBX1 NC_000022.11: g.(?_19755901)_(19783042_?)del deletion Pathogenic GRCh37 Chromosome 22, 19743424: 19770565
42 TBX1 NM_080647.1(TBX1): c.1055C> T (p.Pro352Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19753957: 19753957
43 TBX1 NM_080647.1(TBX1): c.1055C> T (p.Pro352Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19766434: 19766434
44 TBX1 NM_080647.1(TBX1): c.1169G> A (p.Gly390Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19766548: 19766548
45 TBX1 NM_080647.1(TBX1): c.1169G> A (p.Gly390Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19754071: 19754071
46 TBX1 NM_080647.1(TBX1): c.243C> A (p.Ser81Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19748636: 19748636
47 TBX1 NM_080647.1(TBX1): c.243C> A (p.Ser81Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19761113: 19761113
48 subset of 11 genes:TBX1 NC_000022.11: g.(?_19722428)_(19975757_?)del deletion Pathogenic GRCh38 Chromosome 22, 19722428: 19975757
49 subset of 11 genes:TBX1 NC_000022.11: g.(?_19722428)_(19975757_?)del deletion Pathogenic GRCh37 Chromosome 22, 19709951: 19963280
50 TBX1 NM_080647.1(TBX1): c.1019A> T (p.Glu340Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19753921: 19753921

Copy number variations for Digeorge Syndrome from CNVD:

7 (show top 50) (show all 58)
# 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 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 microde letion 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

Sources for Digeorge Syndrome

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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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35 ICD10 via Orphanet
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