DGS
MCID: DGR001
MIFTS: 62

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 57 12 74 20 43 58 73 36 13 54 44 15 71
22q11.2 Deletion Syndrome 12 74 25 20 43 58 36
Chromosome 22q11.2 Deletion Syndrome 57 20 73 6
Shprintzen Syndrome 20 43 58 71
Digeorge Sequence 12 58 29 6
Conotruncal Anomaly Face Syndrome 20 43 58
Cayler Cardiofacial Syndrome 20 43 58
Velocardiofacial Syndrome 20 43 58
Sedlackova Syndrome 20 43 58
Third and Fourth Pharyngeal Pouch Syndrome 57 73
Autosomal Dominant Opitz G/bbb Syndrome 20 43
Hypoplasia of Thymus and Parathyroids 57 73
Velo-Cardio-Facial Syndrome 43 54
22q11.2ds 25 43
Catch22 20 43
Vcfs 20 43
Dgs 57 73
Pharyngeal Pouch Syndrome 12
Deletion 22q11.2 Syndrome 43
Microdeletion 22q11.2 58
Di George's Syndrome 74
Digeorge's Syndrome 12
Di-George Syndrome 29
Syndrome, Digeorge 39
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®:

57 (Updated 05-Mar-2021)
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:

25
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® 57 188400
ICD9CM 34 279.11
MeSH 44 D004062
NCIt 50 C2989
SNOMED-CT 67 77128003
ICD10 32 D82.1 Q38.7
MESH via Orphanet 45 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

MedlinePlus Genetics : 43 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 Dopamine have been mentioned in the context of this disorder. Affiliated tissues include thymus, heart and brain, and related phenotypes are dysphasia 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.

GARD : 20 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® : 57 DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol. (188400) (Updated 05-Mar-2021)

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 564)
# Related Disease Score Top Affiliating Genes
1 velocardiofacial syndrome 33.1 UFD1 TBX1 SEPTIN5 PRODH LZTR1 HIRA
2 opitz-gbbb syndrome 32.5 TBX1 PRODH GP1BB
3 tetralogy of fallot 31.6 UFD1 TBX1 PRODH LZTR1 HIRA GP1BB
4 heart septal defect 31.4 TBX1 PRODH HIRA DGCR5
5 schizophrenia 4 31.0 PRODH DGCR6
6 patent ductus arteriosus 1 30.8 TBX1 PRODH HIRA
7 t-cell immunodeficiency with thymic aplasia 30.8 TBX1 PRODH HIRA GP1BB DGCR5 DGCR2
8 atrial heart septal defect 30.8 TBX1 PRODH LZTR1 HIRA
9 hyperprolinemia 30.8 PRODH GNB1L DGCR6L DGCR6 DGCR5 COMT
10 schizophrenia 30.8 TBX1 PRODH GNB1L DGCR8 DGCR6 DGCR2
11 schizophreniform disorder 30.7 PRODH COMT
12 bernard-soulier syndrome 30.7 SEPTIN5 PRODH GP1BB
13 hyperprolinemia, type i 30.7 PRODH HIRA DGCR6L DGCR6 DGCR5 DGCR2
14 orofacial cleft 30.7 TBX1 PRODH HIRA DGCR5
15 chromosome 22q11.2 duplication syndrome 30.7 UFD1 TBX1 PRODH LZTR1 HIRA DGCR6L
16 chromosomal deletion syndrome 30.6 UFD1 TBX1 PRODH HIRA GNB1L DGCR8
17 thymic dysplasia 30.5 PRODH HIRA
18 phobia, specific 30.4 PRODH COMT
19 schizotypal personality disorder 30.3 PRODH COMT
20 goldberg-shprintzen syndrome 11.7
21 digeorge syndrome/velocardiofacial syndrome complex 2 11.4
22 hypoparathyroidism 11.3
23 polymicrogyria 11.2
24 mowat-wilson syndrome 11.2
25 chromosome 15q24 deletion syndrome 11.2
26 polymicrogyria, bilateral perisylvian, x-linked 11.2
27 selective igm deficiency disease 11.2
28 aortic arch interruption 11.1
29 opitz gbbb syndrome, type ii 11.0
30 chromosome 22q11.2 deletion syndrome, distal 11.0
31 omenn syndrome 11.0
32 chromosome 8p23.1 deletion 11.0
33 takayasu arteritis 11.0
34 chromosomal disease 10.6 TBX1 PRODH HIRA DGCR8 DGCR5 COMT
35 van den ende-gupta syndrome 10.6 PRODH LZTR1 GP1BB DGCR2
36 ichthyosis, congenital, autosomal recessive 9 10.6 TBX1 HIRA COMT
37 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.5 TBX1 PRODH GP1BB
38 rasopathy 10.5 TBX1 RREB1 PRODH LZTR1
39 tricuspid atresia 10.5 TBX1 PRODH
40 specific developmental disorder 10.5 PRODH DGCR5 COMT
41 cannabis abuse 10.4 PRODH COMT
42 ventricular septal defect 10.4
43 cleft palate, isolated 10.4
44 hirschsprung disease 1 10.3
45 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
46 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
47 dysthymic disorder 10.3 PRODH COMT
48 t cell deficiency 10.3
49 lymphopenia 10.3
50 major affective disorder 1 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 159)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
4 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
5 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
6 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
7 atrial septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001631
8 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
9 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
10 tetralogy of fallot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001636
11 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
12 hypoplasia of the thymus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000778
13 abnormal pulmonary valve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001641
14 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
15 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
16 abnormality of the pharynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0000600
17 nasal speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001611
18 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
19 truncus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001660
20 platybasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002691
21 abnormal aortic arch morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0012303
22 hypotonia 31 hallmark (90%) HP:0001252
23 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
24 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
25 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
26 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
27 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
28 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
29 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
30 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
31 acne 58 31 very rare (1%) Frequent (79-30%) HP:0001061
32 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
33 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
34 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
35 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
36 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
37 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
38 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Digeorge Syndrome

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

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
5 Dopamine Agents Phase 4
6 Dopamine Antagonists Phase 4
7 Dopamine Uptake Inhibitors Phase 4
8 Central Nervous System Stimulants Phase 4
9 Neurotransmitter Agents Phase 4
10 Psychotropic Drugs Phase 4
11 Antipsychotic Agents Phase 4
12
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
13
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
14 Calcium, Dietary Phase 3
15
Calcium Nutraceutical Phase 3 7440-70-2 271
16
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
17
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
18
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
21
alemtuzumab Approved, Investigational Phase 2 216503-57-0
22
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
23 Antineoplastic Agents, Immunological Phase 2
24 Alkylating Agents Phase 2
25 alpha-Methyltyrosine Phase 2
26 Prednisolone acetate Approved, Vet_approved Phase 1 52-21-1
27
Prednisolone Approved, Vet_approved Phase 1 50-24-8 5755
28
Methylprednisolone hemisuccinate Approved Phase 1 2921-57-5
29
Methylprednisolone Approved, Vet_approved Phase 1 83-43-2 6741
30
Prednisolone phosphate Approved, Vet_approved Phase 1 302-25-0
31
Prednisolone hemisuccinate Experimental Phase 1 2920-86-7
32 Anesthetics Phase 1
33 Antilymphocyte Serum Phase 1
34 Thymoglobulin Phase 1
35 Cyclosporins Phase 1
36 Methylprednisolone Acetate Phase 1
37
Mycophenolic acid Approved 24280-93-1 446541
38
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
39
Clotrimazole Approved, Vet_approved 23593-75-1 2812
40
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
41
Basiliximab Approved, Investigational 179045-86-4, 152923-56-3
42 Kava Approved, Investigational, Nutraceutical 9000-38-8
43 Tea
44 Dopamine agonists
45 Hormones
46 Antibiotics, Antitubercular
47 Antifungal Agents
48 Protective Agents
49 Immunosuppressive Agents
50 Anti-Inflammatory Agents

Interventional clinical trials:

(show all 47)
# 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 Prospective Randomized Investigation of Radiofrequency Targeted Vertebral Augmentation (The PRIORi-T Trial) Withdrawn NCT01480167 Phase 4
4 VertebrOpLasty Versus Conservative Treatment in Acute Non Osteoporotic Vertebral Fractures Completed NCT01643395 Phase 3
5 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
6 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
7 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
8 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
9 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
10 A Double-Blind, Placebo-Controlled, Multi-Center, Randomized Trial of the Safety and Efficacy of Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velo-Cardio-Facial Syndrome Terminated NCT01127503 Phase 2 Metyrosine;Placebo
11 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
12 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
13 Thymus Transplantation With Immunosuppression, #884 Completed NCT00579709 Phase 1
14 Phase I Serum-Free Cultured Thymus Transplantation in DiGeorge Anomaly, IND9836 Terminated NCT00849888 Phase 1
15 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
16 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
17 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
18 Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome Completed NCT02890472
19 Translational 22q11.2:"Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom" Completed NCT04141540
20 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
21 Facial Expression Perception by Intensity in Schizophrenia and 22q11.2 Deletion Syndrome: Neural Electrophysiological Evidence by Means of Fast Periodic Visual Stimulation Completed NCT02634671
22 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
23 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
24 Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q11.2-Hemideletion Syndrome Completed NCT00105274
25 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
26 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
27 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
28 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
29 SNP-based Microdeletion and Aneuploidy RegisTry Completed NCT02381457
30 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
31 A Prospective, Multicenter, Randomized, Comparative Clinical Study to Compare the Safety and Effectiveness of Two Vertebral Compression Fracture (VCF) Reduction Techniques: the SpineJack® and the KyphX Xpander® Inflatable Bone Tamp Completed NCT02461810
32 Study of Arithmetic Abilities of Children With 22q11.2 Deletion Syndrome Aged From 4 to 11 Years Old Recruiting NCT04373226
33 Genetic Modifiers of 22q11.2 Deletion Syndrome Recruiting NCT00556530
34 Characterize the Behavioral Prodromes of Psychotic Disorders in Children With 22q11.2DS Aged From 4 to 13 Years Old Recruiting NCT04639388
35 Effects of Modulation of the Dopaminergic System Using Methylphenidate on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Recruiting NCT04647500 Concerta
36 Effects of Modulation of the Dopaminergic System Using Risperidone on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Recruiting NCT04639960 Risperdal;Placebo
37 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02 Recruiting NCT03375359
38 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
39 Is Thymus Size of Infants Who Born to COVID-19 Positive Mothers Associated With Neonatal Morbidities? Recruiting NCT04470739
40 Whole Blood Specimen Collection From Pregnant Subjects Active, not recruiting NCT02430584
41 Safety and Efficacy of Thymus Transplantation in Complete DiGeorge Anomaly, IND#9836 Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
42 Social Cognition Training and Cognitive Remediation : a New Tool for 22q11.2 Deletion Syndrome Terminated NCT03284060
43 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005
44 Evaluation of the Technical Success of Intravascular Ultrasound (IVUS) Guided Vena Cava Filter (VCF) Placement Using the LUMIFI™ With Crux® VCF System (LUMIFI Clinical Study) Terminated NCT02394912
45 Multiple Myeloma Spinal Disease Study; A Multi-centre, Prospective, Single Blinded, Randomized, Controlled Study to Compare Conservative Management Alone Vs. Balloon Kyphoplasty With the Treatment of VCFs in Patients With Multiple Myeloma Terminated NCT02732925
46 A Multicenter, Randomized, Prospective Clinical Trial to Compare the Short- and Long-term Safety and Effectiveness of Balloon Kyphoplasty to Vertebroplasty in the Treatment of Painful, Acute Osteoporosis-related Vertebral Body Compression Fractures (VCFs). Terminated NCT00323609
47 A Pilot Study of Vertebral Augmentation With Kyphoplasty Versus Nonsurgical Management in Multiple Myeloma Patients With Mildly Symptomatic Vertebral Body Compression Fractures Withdrawn NCT01175278

Search NIH Clinical Center for Digeorge Syndrome

Cochrane evidence based reviews: digeorge syndrome

Genetic Tests for Digeorge Syndrome

Genetic tests related to Digeorge Syndrome:

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

Anatomical Context for Digeorge Syndrome

MalaCards organs/tissues related to Digeorge Syndrome:

40
Thymus, Heart, Brain, Tongue, Bone, Lung, Thyroid

Publications for Digeorge Syndrome

Articles related to Digeorge Syndrome:

(show top 50) (show all 2326)
# Title Authors PMID Year
1
Role of TBX1 in human del22q11.2 syndrome. 6 57 25
14585638 2003
2
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. 6 57
16684884 2006
3
Graves' disease in patients with 22q11.2 deletion. 61 57 25
11743521 2001
4
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). 57 61 25
11713452 2001
5
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). 25 20 61
21200182 2011
6
Premature death in adults with 22q11.2 deletion syndrome. 20 61 25
19246480 2009
7
Clinical features of 78 adults with 22q11 Deletion Syndrome. 57 25
16208694 2005
8
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. 25 57
12837874 2003
9
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. 57 54 61
11242110 2001
10
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. 61 57 54
11239417 2001
11
Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. 61 54 57
8733130 1996
12
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. 57 61
28121514 2017
13
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome. 61 57
23765047 2014
14
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. 61 57
23453669 2013
15
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. 57 61
20503320 2010
16
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. 57 61
19805316 2009
17
Genetic compensation in a human genomic disorder. 61 57
19297573 2009
18
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. 61 57
18324686 2008
19
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. 57 61
17676598 2007
20
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 61 6
17273972 2007
21
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. 61 57
16900388 2006
22
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. 57 61
16513880 2006
23
Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome. 61 57
16542388 2006
24
Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome. 61 57
15889418 2005
25
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. 57 61
15190012 2004
26
Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. 61 57
12563036 2003
27
VEGF: a modifier of the del22q11 (DiGeorge) syndrome? 57 61
12539040 2003
28
DiGeorge syndrome: the use of model organisms to dissect complex genetics. 61 57
12351571 2002
29
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. 57 61
11709542 2001
30
Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region. 61 57
11309372 2001
31
Deconstructing DiGeorge syndrome. 57 61
11242098 2001
32
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. 57 61
11242111 2001
33
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. 57 61
11242049 2001
34
Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region. 61 57
10963672 2000
35
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. 61 57
10699172 2000
36
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 57
10592069 1999
37
Transplantation of thymus tissue in complete DiGeorge syndrome. 57 61
10523153 1999
38
Congenital heart disease in mice deficient for the DiGeorge syndrome region. 61 57
10517636 1999
39
A common molecular basis for rearrangement disorders on chromosome 22q11. 61 57
10369860 1999
40
B-cell lymphoma associated with DiGeorge syndrome. 61 57
10412828 1999
41
Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance. 61 57
9511978 1998
42
Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. 57 61
9463325 1998
43
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. 57 61
9350810 1997
44
Nasal dimple as part of the 22q11.2 deletion syndrome. 61 57
9096759 1997
45
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. 61 57
8644734 1996
46
Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity. 61 57
8574419 1995
47
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. 61 57
7670464 1995
48
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 57
7607662 1995
49
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. 61 57
7633403 1995
50
DiGeorge syndrome: part of CATCH 22. 57 61
8230162 1993

Variations for Digeorge Syndrome

ClinVar genetic disease variations for Digeorge Syndrome:

6 (show top 50) (show all 140)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX1 TBX1, 23-BP DEL, NT1320 Deletion Pathogenic 7566
2 TBX1 NM_080647.1(TBX1):c.582C>G (p.His194Gln) SNV Pathogenic 7567 rs74315522 22:19751747-19751747 22:19764224-19764224
3 DGCR2 NC_000022.10:g.(?_18900668)_(19770565_?)del Deletion Pathogenic 455788 22:18900668-19770565
4 TBX1 NM_080647.1(TBX1):c.292A>T (p.Lys98Ter) SNV Pathogenic 526036 rs1555895466 22:19748685-19748685 22:19761162-19761162
5 ARVCF GRCh37/hg19 22q11.21(chr22:18901004-21408430) copy number loss Pathogenic 625586 22:18901004-21408430
6 ARVCF GRCh37/hg19 22q11.21(chr22:18918741-20311922) copy number loss Pathogenic 625620 22:18918741-20311922
7 ARVCF GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss Pathogenic 625621 22:18912403-21431174
8 ARVCF GRCh37/hg19 22q11.21(chr22:18912870-21431174) copy number loss Pathogenic 625625 22:18912870-21431174
9 ARVCF GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number loss Pathogenic 625679 22:18892575-21460220
10 ARVCF GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number loss Pathogenic 625684 22:18892575-21460220
11 ARVCF GRCh37/hg19 22q11.21(chr22:18900755-21800277) copy number loss Pathogenic 625739 22:18900755-21800277
12 ARVCF GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 copy number loss Pathogenic 636280 22:18912231-21465672
13 ARVCF GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 copy number loss Pathogenic 636281 22:18631364-21800471
14 ARVCF GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 copy number loss Pathogenic 636282 22:18922151-21449911
15 ARVCF GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 copy number loss Pathogenic 636283 22:18636749-21800471
16 ARVCF GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 copy number loss Pathogenic 636284 22:18919477-21800471
17 TBX1 NC_000022.11:g.(?_19755950)_(19759697_?)del Deletion Pathogenic 640457 22:19743473-19747220 22:19755950-19759697
18 DGCR2 NC_000022.10:g.(?_18910310)_(19770565_?)del Deletion Pathogenic 526039 22:18910310-19770565
19 TBX1 NC_000022.11:g.(?_19755901)_(19783042_?)del Deletion Pathogenic 583599 22:19743424-19770565 22:19755901-19783042
20 ARVCF NC_000022.11:g.(?_19722428)_(19975757_?)del Deletion Pathogenic 584158 22:19709951-19963280 22:19722428-19975757
21 TBX1 NC_000022.11:g.(?_19755901)_(19766877_?)del Deletion Pathogenic 660156 22:19743424-19754400 22:19755901-19766877
22 ARVCF GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 copy number loss Pathogenic 666443 22:18661724-21505417
23 ARVCF Deletion Pathogenic 812919 22:18475385-23764120
24 TBX1 NC_000022.10:g.(?_19163623)_(19770565_?)del Deletion Pathogenic 831644 22:19163623-19770565
25 TBX1 NC_000022.11:g.(?_19755901)_(19759687_?)del Deletion Pathogenic 831941 22:19743424-19747210
26 ARVCF GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss Pathogenic 915966 22:18912403-21431174
27 TBX1 NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) Deletion Pathogenic 949172 22:19748554-19748579 22:19761031-19761056
28 TBX1 NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) Deletion Pathogenic 971780 22:19748451-19748646 22:19760928-19761123
29 TBX1 NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) SNV Likely pathogenic 973222 22:19750829-19750829 22:19763306-19763306
30 TBX1 NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) SNV Uncertain significance 992543 22:19753948-19753948 22:19766425-19766425
31 TBX1 NM_080647.1(TBX1):c.1187C>T (p.Pro396Leu) SNV Uncertain significance 803643 rs746812421 22:19754089-19754089 22:19766566-19766566
32 TBX1 NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His) SNV Uncertain significance 972183 22:19754337-19754337 22:19766814-19766814
33 TBX1 NM_080647.1(TBX1):c.1457C>A (p.Pro486Gln) SNV Uncertain significance 586784 rs762076391 22:19754359-19754359 22:19766836-19766836
34 TBX1 NM_001379200.1(TBX1):c.646A>G (p.Met216Val) SNV Uncertain significance 949596 22:19751784-19751784 22:19764261-19764261
35 TBX1 NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu) SNV Uncertain significance 951187 22:19748530-19748530 22:19761007-19761007
36 TBX1 NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg) SNV Uncertain significance 951216 22:19754383-19754383 22:19766860-19766860
37 TBX1 NM_001379200.1(TBX1):c.1205C>G (p.Pro402Arg) SNV Uncertain significance 953719 22:19754080-19754080 22:19766557-19766557
38 TBX1 NM_001379200.1(TBX1):c.922G>C (p.Asp308His) SNV Uncertain significance 954595 22:19753335-19753335 22:19765812-19765812
39 TBX1 NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr) SNV Uncertain significance 954963 22:19748676-19748676 22:19761153-19761153
40 TBX1 NM_001379200.1(TBX1):c.544G>A (p.Ala182Thr) SNV Uncertain significance 955371 22:19751682-19751682 22:19764159-19764159
41 TBX1 NM_001379200.1(TBX1):c.220C>T (p.Pro74Ser) SNV Uncertain significance 956077 22:19748586-19748586 22:19761063-19761063
42 TBX1 NM_001379200.1(TBX1):c.1380T>G (p.His460Gln) SNV Uncertain significance 956184 22:19754255-19754255 22:19766732-19766732
43 TBX1 NM_001379200.1(TBX1):c.1066C>A (p.Arg356Ser) SNV Uncertain significance 956766 22:19753941-19753941 22:19766418-19766418
44 TBX1 NM_001379200.1(TBX1):c.95C>T (p.Ala32Val) SNV Uncertain significance 959519 22:19748461-19748461 22:19760938-19760938
45 TBX1 NM_001379200.1(TBX1):c.618G>A (p.Pro206=) SNV Uncertain significance 960743 22:19751756-19751756 22:19764233-19764233
46 TBX1 NM_001379200.1(TBX1):c.1142C>T (p.Ser381Leu) SNV Uncertain significance 962010 22:19754017-19754017 22:19766494-19766494
47 TBX1 NM_001379200.1(TBX1):c.1024G>T (p.Gly342Cys) SNV Uncertain significance 963562 22:19753513-19753513 22:19765990-19765990
48 TBX1 NM_001379200.1(TBX1):c.390C>G (p.Asp130Glu) SNV Uncertain significance 964014 22:19748756-19748756 22:19761233-19761233
49 TBX1 NM_001379200.1(TBX1):c.438-7C>A SNV Uncertain significance 970732 22:19750757-19750757 22:19763234-19763234
50 TBX1 NM_001379200.1(TBX1):c.700G>A (p.Asp234Asn) SNV Uncertain significance 934089 22:19751838-19751838 22:19764315-19764315

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 55)
# 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 SMARCB1 Digeorge syndrome
8 160211 22 11800000 24300000 Copy number SNAP29 Digeorge syndrome
9 160219 22 11800000 24300000 Deletion Digeorge syndrome
10 160238 22 11800000 24300000 Deletion COMT velo-cardio-facial syndrome
11 160243 22 11800000 24300000 Deletion DGCR6 velo-cardio-facial syndrome
12 160251 22 11800000 24300000 Deletion PRODH velo-cardio-facial syndrome
13 160254 22 11800000 24300000 Deletion TBX1 Digeorge syndrome
14 160261 22 11800000 24300000 Microdeletion 22q11.2 microdeletion syndrome
15 160263 22 11800000 24300000 Microdeletion Digeorge syndrome
16 160264 22 11800000 24300000 Microdeletion Digeorge syndrome
17 160281 22 11800000 24300000 Microdeletions 22q11.2 microdeletion syndrome
18 160757 22 16300000 20500000 Deletion Digeorge syndrome
19 160774 22 16300000 24300000 Copy number Digeorge syndrome
20 160775 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
21 160776 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
22 160777 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
23 160778 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
24 160779 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
25 160780 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
26 160781 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
27 160803 22 16300000 24300000 Deletion velo-cardio-facial syndrome
28 160804 22 16300000 24300000 Deletion velo-cardio-facial syndrome
29 160805 22 16300000 24300000 Deletion CHEK2 22q11.2 microdeletion syndrome
30 160806 22 16300000 24300000 Deletion GNB1L Digeorge syndrome
31 160807 6 15354505 15630232 Deletion JARID2 Digeorge syndrome
32 160809 22 16300000 24300000 Deletion PRODH Digeorge syndrome
33 160811 22 16300000 24300000 Deletion TBX1 22q11.2 microdeletion syndrome
34 160814 22 16300000 24300000 Deletion TBX1 Digeorge syndrome
35 160816 22 16300000 24300000 Deletion TBX1 22q11.2 microdeletion syndrome
36 160826 22 16300000 24300000 Heterozygous microdeletion Digeorge syndrome
37 160827 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
38 160828 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
39 160829 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
40 160830 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
41 160831 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
42 160834 22 16300000 24300000 Microdeletion DiGeorge syndrome
43 160836 22 16300000 24300000 Microdeletion Digeorge syndrome
44 160837 22 16300000 24300000 Microdeletion Digeorge syndrome
45 160838 22 16300000 24300000 Microdeletion Digeorge syndrome
46 160844 22 16300000 24300000 Microdeletion Velo-cardio-facial syndrome
47 160848 22 16300000 24300000 Microdeletion velo-cardio-facial syndrome
48 160851 8 72272221 72437021 Microdeletion EYA1 Digeorge syndrome
49 160852 8 72272221 72437021 Microdeletion EYA1 Velo-cardio-facial syndrome
50 160854 14 60181169 60185908 Microdeletion SIX1 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

Sources for Digeorge Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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