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 76 53 25 59 75 37 13 55 44 15 40 73
22q11.2 Deletion Syndrome 12 76 24 53 25 59 37
Shprintzen Syndrome 53 25 59 73
Digeorge Sequence 12 59 29 6
Chromosome 22q11.2 Deletion Syndrome 57 53 75
Conotruncal Anomaly Face Syndrome 53 25 59
Cayler Cardiofacial Syndrome 53 25 59
Velocardiofacial Syndrome 53 25 59
Sedlackova Syndrome 53 25 59
Third and Fourth Pharyngeal Pouch Syndrome 57 75
Autosomal Dominant Opitz G/bbb Syndrome 53 25
Hypoplasia of Thymus and Parathyroids 57 75
Velo-Cardio-Facial Syndrome 25 55
22q11.2ds 24 25
Catch22 53 25
Vcfs 53 25
Dgs 57 75
Pharyngeal Pouch Syndrome 12
Deletion 22q11.2 Syndrome 25
Microdeletion 22q11.2 59
Di George's Syndrome 76
Digeorge's Syndrome 12
Di-George Syndrome 29
Monosomy 22q11 59
Takao Syndrome 59
Catch 22 59
22q11ds 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant

Miscellaneous:
incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births
hernia occurs in 22% of adults
usually sporadic disorder resulting from de novo 22q11.2 deletion
22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome


HPO:

32
digeorge syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is complete in individuals with 22q112ds; variability is marked...

Classifications:



External Ids:

OMIM 57 188400
Disease Ontology 12 DOID:11198
ICD10 33 D82.1 Q38.7
ICD9CM 35 279.11
MeSH 44 D004062
NCIt 50 C2989
SNOMED-CT 68 77128003
Orphanet 59 ORPHA567
UMLS via Orphanet 74 C0012236 C0220704 C0795907 more
ICD10 via Orphanet 34 D82.1
MESH via Orphanet 45 D058165
SNOMED-CT via HPO 69 263681008 396232000 204878001 more

Summaries for Digeorge Syndrome

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

MalaCards based summary : Digeorge Syndrome, also known as 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 Risperidone and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart, thymus and t cells, and related phenotypes are malar flattening and hypertelorism

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 : 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.

NIH Rare Diseases : 53 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 : 75 DiGeorge syndrome: A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype.

Wikipedia : 76 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 260)
# Related Disease Score Top Affiliating Genes
1 velocardiofacial syndrome 32.1 UFD1 TBX1 PRODH HIRA GP1BB GNB1L
2 tetralogy of fallot 30.6 UFD1 TBX1 HIRA DGCR
3 schizophrenia 29.8 TBX1 PRODH DGCR6 COMT ARVCF
4 cayler cardiofacial syndrome 12.7
5 goldberg-shprintzen syndrome 12.6
6 chromosome 22q11.2 deletion syndrome, distal 12.5
7 digeorge syndrome/velocardiofacial syndrome complex 2 12.2
8 conotruncal heart malformations 11.7
9 hypoparathyroidism 11.4
10 aortic arch interruption 11.4
11 duarte variant galactosemia 11.3
12 chromosome 15q24 deletion syndrome 11.3
13 selective igm deficiency disease 11.2
14 opitz-gbbb syndrome 11.2
15 mowat-wilson syndrome 11.2
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 situs inversus 10.4
22 dextrocardia with situs inversus 10.4
23 anxiety 10.3
24 chromosome 22q11.2 duplication syndrome 10.3 TBX1 LZTR1
25 cognitive function 1, social 10.3
26 major affective disorder 1 10.2
27 prader-willi syndrome 10.2
28 major affective disorder 8 10.2
29 major affective disorder 7 10.2
30 major affective disorder 9 10.2
31 holoprosencephaly 10.2
32 pemphigus foliaceus 10.2
33 polyhydramnios 10.2
34 pemphigus 10.2
35 hirschsprung disease 1 10.2
36 heparin-induced thrombocytopenia 10.2
37 hemorrhoid 10.2
38 kenny-caffey syndrome 10.2
39 palatopharyngeal incompetence 10.2
40 parkinson disease, late-onset 10.2
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
42 heart disease 10.1
43 evans' syndrome 10.1
44 depression 10.1
45 attention deficit-hyperactivity disorder 10.1
46 sleep apnea 10.1
47 hyperprolinemia 10.1 PRODH COMT
48 lung agenesis 10.1
49 psychotic disorder 10.1
50 microcephaly 10.0

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



Diseases related to Digeorge Syndrome

Symptoms & Phenotypes for Digeorge Syndrome

Symptoms via clinical synopsis from OMIM:

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

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

Cardiovascular Vascular:
patent ductus arteriosus

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

Endocrine Features:
parathyroid hypoplasia
parathyroid absence
thymic hypoplasia
thymic aplasia
accessory thyroid tissue
more
Neurologic Behavioral Psychiatric Manifestations:
bipolar disorder
attention deficit disorder
schizophrenia (22% of adults)

Growth Weight:
obesity (35% of adults)

Skeletal Spine:
scoliosis (47% of adults)

Immunology:
immune defect due to a t cell deficit
susceptibility to infection

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

Abdomen External Features:
umbilical hernia
femoral hernia

Head And Neck Face:
micrognathia

Head And Neck Nose:
short philtrum
blunted nose

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

Growth Height:
short stature (20% of adults)

Abdomen Biliary Tract:
cholelithiasis (19% of adults)

Skin Nails Hair Skin:
severe acne (23% of adults)
seborrhea (35% of adults)

Laboratory Abnormalities:
neonatal hypocalcemia
hypocalcemia (64% of adults)
t-cell deficit
85-90% dgs patients have deletion of 22q11.2
other cytogenic abnormalities have been associated with dgs phenotype including monosomy 10p13, 11p13, and 4q21


Clinical features from OMIM:

188400

Human phenotypes related to Digeorge Syndrome:

59 32 (show top 50) (show all 158)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
4 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
5 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
6 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
7 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
8 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
9 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
10 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
11 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
12 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
13 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
14 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
15 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
16 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
17 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
18 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
19 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
20 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
21 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
22 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
23 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
24 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
25 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
26 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
27 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
28 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
29 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
30 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
31 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
32 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
33 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
34 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
35 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
36 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
37 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
38 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
39 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
40 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
41 abnormality of the thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0000765
42 acne 59 32 very rare (1%) Frequent (79-30%) HP:0001061
43 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
44 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
45 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
46 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
47 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
48 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
49 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
50 autoimmunity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002960

Drugs & Therapeutics for Digeorge Syndrome

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

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4 Central Nervous System Stimulants Phase 4
5 Psychotropic Drugs Phase 4
6 Dopamine Agents Phase 4
7 Dopamine Antagonists Phase 4
8 Central Nervous System Depressants Phase 4,Phase 1,Phase 2
9 Antipsychotic Agents Phase 4
10 Serotonin Agents Phase 4
11 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
12 Serotonin Antagonists Phase 4
13 Neurotransmitter Uptake Inhibitors Phase 4
14 Dopamine Uptake Inhibitors Phase 4
15 Tranquilizing Agents Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17 Calcium, Dietary Phase 3,Phase 2,Phase 1
18
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
21
alemtuzumab Approved, Investigational Phase 2 216503-57-0
22
Mycophenolic acid Approved Phase 1, Phase 2,Phase 2 24280-93-1 446541
23
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
24
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6, 75614-87-8 774
25
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
26
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
27
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
28
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
29
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
30
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
31
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
32
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
33
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
34
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
35 Hormones Phase 1, Phase 2
36 Immunosuppressive Agents Phase 2,Phase 1
37 Antimetabolites Phase 2
38 Immunologic Factors Phase 2,Phase 1
39 Antimetabolites, Antineoplastic Phase 2
40 Alkylating Agents Phase 2
41 Antineoplastic Agents, Alkylating Phase 2
42 Anesthetics Phase 2,Phase 1
43 Hormone Antagonists Phase 1, Phase 2
44 Immunoglobulins Phase 1, Phase 2,Phase 2
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
46 Antineoplastic Agents, Hormonal Phase 1, Phase 2
47 Calcineurin Inhibitors Phase 1, Phase 2,Phase 2
48 Antibiotics, Antitubercular Phase 1, Phase 2,Phase 2
49 Histamine Antagonists Phase 1, Phase 2
50 Methylprednisolone acetate Phase 1, Phase 2

Interventional clinical trials:

(show all 36)
# 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 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
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 Thymus Transplantation Safety-Efficacy Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
36 Infection in DiGeorge Following CHD Surgery Terminated NCT00278005

Search NIH Clinical Center for Digeorge Syndrome

Cochrane evidence based reviews: digeorge syndrome

Genetic Tests for Digeorge Syndrome

Genetic tests related to Digeorge Syndrome:

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

Anatomical Context for Digeorge Syndrome

MalaCards organs/tissues related to Digeorge Syndrome:

41
Heart, Thymus, T Cells, Kidney, Bone, Lung, Brain

Publications for Digeorge Syndrome

Articles related to Digeorge Syndrome:

(show top 50) (show all 903)
# Title Authors Year
1
Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns. ( 30554706 )
2019
2
Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population. ( 29455205 )
2018
3
Role of DiGeorge syndrome critical region gene 9, a long noncoding RNA, in gastric cancer. ( 29719408 )
2018
4
DiGeorge syndrome : Relevance of psychiatric symptoms in undiagnosed adult patients. ( 29671046 )
2018
5
Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome. ( 30093352 )
2018
6
Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome. ( 29040797 )
2018
7
Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism. ( 30453155 )
2018
8
The Neuroanatomy of Autism Spectrum Disorder Symptomatology in 22q11.2 Deletion Syndrome. ( 30272146 )
2018
9
22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and/or Palate. ( 29652534 )
2018
10
Follicular Helper T Cells in DiGeorge Syndrome. ( 30083170 )
2018
11
Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report. ( 30263223 )
2018
12
Schizophrenia in DiGeorge Syndrome: A Unique Case Report. ( 30345199 )
2018
13
Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome). ( 30377837 )
2018
14
Clozapine-induced myocarditis in an adolescent male with DiGeorge Syndrome. ( 30397574 )
2018
15
Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome. ( 30277015 )
2018
16
Granulomatous-Lymphocytic Interstitial Lung Disease in 22q11.2 Deletion Syndrome: a Case Report and Literature Review. ( 29470661 )
2018
17
Pineoblastoma in a child with 22q11.2 deletion syndrome. ( 30217803 )
2018
18
Scoliosis in association with the 22q11.2 deletion syndrome: an observational study. ( 29627765 )
2018
19
Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening. ( 30268402 )
2018
20
[Formula: see text]Executive functioning and its relation to ASD and ADHD symptomatology in 22q11.2 deletion syndrome. ( 27608887 )
2018
21
Recent developments in understanding the relationship between 22q11.2 deletion syndrome and psychosis. ( 30394904 )
2018
22
Prevalence, course and psychosis-predictive value of negative symptoms in 22q11.2 deletion syndrome. ( 30414720 )
2018
23
Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome. ( 30444066 )
2018
24
The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome. ( 30458299 )
2018
25
Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome. ( 30515510 )
2018
26
Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. ( 30522971 )
2018
27
22q11.2 Deletion Syndrome Is Associated With Impaired Auditory Steady-State Gamma Response. ( 28521049 )
2018
28
The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias. ( 28940864 )
2018
29
Baseline connectome modular abnormalities in the childhood phase of a longitudinal study on individuals with chromosome 22q11.2 deletion syndrome. ( 28990258 )
2018
30
Adults with 22q11.2 deletion syndrome have a different velopharyngeal anatomy with predisposition to velopharyngeal insufficiency. ( 29032918 )
2018
31
Longitudinal perspectives on the psychosis spectrum in 22q11.2 deletion syndrome. ( 29048724 )
2018
32
Health-related quality of life in 22q11.2 deletion syndrome: The child's perspective. ( 29083072 )
2018
33
Time-based prospective memory in children and adolescents with 22q11.2 deletion syndrome. ( 29132265 )
2018
34
White matter abnormalities in 22q11.2 deletion syndrome patients showing cognitive decline. ( 29143717 )
2018
35
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review. ( 29159873 )
2018
36
A Better Understanding of Brain Involvement in 22q11.2 Deletion Syndrome. ( 29167055 )
2018
37
Response to Correspondence on "A Better Understanding of Brain Involvement in 22q11.2 Deletion Syndrome". ( 29174003 )
2018
38
Dopamine in high-risk populations: A comparison of subjects with 22q11.2 deletion syndrome and subjects at ultra high-risk for psychosis. ( 29174435 )
2018
39
Congenital respiratory tract disorders in 22q11.2 deletion syndrome. ( 29287846 )
2018
40
The interaction between neurocognitive functioning, subthreshold psychotic symptoms and pharmacotherapy in 22q11.2 deletion syndrome: A longitudinal comparative study. ( 29331595 )
2018
41
Cortical morphology development in patients with 22q11.2 deletion syndrome at ultra-high risk of psychosis. ( 29338796 )
2018
42
Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood. ( 29340157 )
2018
43
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. ( 29341423 )
2018
44
Frontal dysconnectivity in 22q11.2 deletion syndrome: an atlas-based functional connectivity analysis. ( 29352808 )
2018
45
Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review. ( 29363845 )
2018
46
Altered auditory processing and effective connectivity in 22q11.2 deletion syndrome. ( 29395612 )
2018
47
A case of prenatal isolated talipes and 22q11.2 deletion syndrome-an important chromosomal disorder missed by noninvasive prenatal screening. ( 29473648 )
2018
48
Visual processing deficits in 22q11.2 Deletion Syndrome. ( 29527499 )
2018
49
Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review. ( 29545254 )
2018
50
Coping Strategies Mediate the Effect of Stressful Life Events on Schizotypal Traits and Psychotic Symptoms in 22q11.2 Deletion Syndrome. ( 29548017 )
2018

Variations for Digeorge Syndrome

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

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

ClinVar genetic disease variations for Digeorge Syndrome:

6 (show top 50) (show all 51)
# 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 GRCh38 Chromosome 22, 19766776: 19766776
11 TBX1 NM_080647.1(TBX1): c.1397C> T (p.Ala466Val) single nucleotide variant Conflicting interpretations of pathogenicity rs753613632 GRCh37 Chromosome 22, 19754299: 19754299
12 TBX1 NM_080647.1(TBX1): c.309_311delGAA (p.Lys103del) deletion Benign GRCh38 Chromosome 22, 19761179: 19761181
13 TBX1 NM_080647.1(TBX1): c.309_311delGAA (p.Lys103del) deletion Benign 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 GRCh37 Chromosome 22, 19748778: 19748778
26 TBX1 NM_080647.1(TBX1): c.385G> A (p.Glu129Lys) single nucleotide variant Conflicting interpretations of pathogenicity 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.1353T> C (p.His451=) single nucleotide variant Benign/Likely benign rs367711718 GRCh38 Chromosome 22, 19766732: 19766732
30 TBX1 NM_080647.1(TBX1): c.1353T> C (p.His451=) single nucleotide variant Benign/Likely benign rs367711718 GRCh37 Chromosome 22, 19754255: 19754255
31 subset of 16 genes:TBX1 NC_000022.10: g.(?_18910310)_(19770565_?)del deletion Pathogenic GRCh37 Chromosome 22, 18910310: 19770565
32 TBX1 NM_080647.1(TBX1): c.140_145delCGCCGC (p.Pro47_Pro48del) deletion Uncertain significance GRCh38 Chromosome 22, 19761010: 19761015
33 TBX1 NM_080647.1(TBX1): c.140_145delCGCCGC (p.Pro47_Pro48del) deletion Uncertain significance GRCh37 Chromosome 22, 19748533: 19748538
34 TBX1 NM_080647.1(TBX1): c.1134C> T (p.Gly378=) single nucleotide variant Uncertain significance rs941116789 GRCh37 Chromosome 22, 19754036: 19754036
35 TBX1 NM_080647.1(TBX1): c.1134C> T (p.Gly378=) single nucleotide variant Uncertain significance rs941116789 GRCh38 Chromosome 22, 19766513: 19766513
36 TBX1 NM_080647.1(TBX1): c.292A> T (p.Lys98Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 19761162: 19761162
37 TBX1 NM_080647.1(TBX1): c.292A> T (p.Lys98Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 19748685: 19748685
38 TBX1 NC_000022.11: g.(?_19755901)_(19783042_?)del deletion Pathogenic GRCh38 Chromosome 22, 19755901: 19783042
39 TBX1 NC_000022.11: g.(?_19755901)_(19783042_?)del deletion Pathogenic GRCh37 Chromosome 22, 19743424: 19770565
40 TBX1 NM_080647.1(TBX1): c.1055C> T (p.Pro352Leu) single nucleotide variant Uncertain significance rs1001921296 GRCh37 Chromosome 22, 19753957: 19753957
41 TBX1 NM_080647.1(TBX1): c.1055C> T (p.Pro352Leu) single nucleotide variant Uncertain significance rs1001921296 GRCh38 Chromosome 22, 19766434: 19766434
42 TBX1 NM_080647.1(TBX1): c.1169G> A (p.Gly390Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19766548: 19766548
43 TBX1 NM_080647.1(TBX1): c.1169G> A (p.Gly390Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19754071: 19754071
44 TBX1 NM_080647.1(TBX1): c.243C> A (p.Ser81Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19748636: 19748636
45 TBX1 NM_080647.1(TBX1): c.243C> A (p.Ser81Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19761113: 19761113
46 subset of 11 genes:TBX1 NC_000022.11: g.(?_19722428)_(19975757_?)del deletion Pathogenic GRCh38 Chromosome 22, 19722428: 19975757
47 subset of 11 genes:TBX1 NC_000022.11: g.(?_19722428)_(19975757_?)del deletion Pathogenic GRCh37 Chromosome 22, 19709951: 19963280
48 TBX1 NM_080647.1(TBX1): c.1019A> T (p.Glu340Val) single nucleotide variant Uncertain significance rs751917634 GRCh37 Chromosome 22, 19753921: 19753921
49 TBX1 NM_080647.1(TBX1): c.1019A> T (p.Glu340Val) single nucleotide variant Uncertain significance rs751917634 GRCh38 Chromosome 22, 19766398: 19766398
50 TBX1 NM_080647.1(TBX1): c.1234C> A (p.His412Asn) single nucleotide variant Uncertain significance rs985907694 GRCh38 Chromosome 22, 19766613: 19766613

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....