VCFS
MCID: CHR346
MIFTS: 67

Chromosome 22q11.2 Deletion Syndrome, Distal (VCFS)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Chromosome 22q11.2 Deletion Syndrome, Distal

MalaCards integrated aliases for Chromosome 22q11.2 Deletion Syndrome, Distal:

Name: Chromosome 22q11.2 Deletion Syndrome, Distal 57 11 28 12 5 43 14 71
22q11.2 Deletion Syndrome 11 24 19 42 58 75 28 5
Autosomal Dominant Opitz G/bbb Syndrome 19 42 28 5
Conotruncal Anomaly Face Syndrome 19 42 58
Cayler Cardiofacial Syndrome 19 42 58
Velocardiofacial Syndrome 19 42 58
Shprintzen Syndrome 19 42 58
Sedlackova Syndrome 19 42 58
Digeorge Syndrome 19 42 58
Catch22 19 42 5
Distal 22q11.2 Microdeletion Syndrome 11 58
22q11.2 Distal Deletion Syndrome 39 75
Velo-Cardio-Facial Syndrome 42 53
22q11.2ds 24 42
Vcfs 19 42
Chromosome Deletion Syndrome 22q11.2, Distal 38
Distal Chromosome 22q11.2 Deletion Syndrome 57
Chromosome 22q11.2 Deletion Syndrome Distal 39
Chromosome 22q11.2 Deletion Syndrome 19
Deletion 22q11.2 Syndrome 42
Distal Monosomy 22q11.2 58
Microdeletion 22q11.2 58
Distal Del(22)(q11.2) 58
Digeorge Sequence 58
Catch 22 Syndrome 75
Monosomy 22q11 58
Takao Syndrome 58
Catch 22 58
22q11ds 58

Characteristics:


Inheritance:

Chromosome 22q11.2 Deletion Syndrome, Distal: Autosomal dominant 57
22q11.2 Deletion Syndrome: Autosomal dominant 58
Distal 22q11.2 Microdeletion Syndrome: Autosomal dominant 58

Prevelance:

22q11.2 Deletion Syndrome: 1-9/100000 (Europe) 1-5/10000 (United States, Europe) 58

Age Of Onset:

22q11.2 Deletion Syndrome: All ages 58
Distal 22q11.2 Microdeletion Syndrome: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
de novo mutation
contiguous gene deletion syndrome


GeneReviews:

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

Classifications:

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


External Ids:

Disease Ontology 11 DOID:0060413
OMIM® 57 611867
MeSH 43 C567511
MESH via Orphanet 44 D058165
ICD10 via Orphanet 32 D82.1 Q93.5
UMLS via Orphanet 72 C0012236 C0220704 C0431406 more
MedGen 40 C2678480
SNOMED-CT via HPO 69 10629009 108369006 111266001 more
UMLS 71 C2678480

Summaries for Chromosome 22q11.2 Deletion Syndrome, Distal

MedlinePlus Genetics: 42 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: Chromosome 22q11.2 Deletion Syndrome, Distal, also known as 22q11.2 deletion syndrome, is related to digeorge syndrome and velocardiofacial syndrome. An important gene associated with Chromosome 22q11.2 Deletion Syndrome, Distal is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. The drugs Risperidone and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and thymus, and related phenotypes are intellectual disability and hypotonia

Orphanet 58 Distal 22q11.2 microdeletion syndrome: A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are de novo .

22q11.2 deletion syndrome: A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

GARD: 19 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.

Disease Ontology: 11 A chromosomal deletion syndrome that has material basis in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.

Wikipedia 75 22q11.2 deletion syndrome: DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on... more...

22q11.2 distal deletion syndrome: 22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the... more...

More information from OMIM: 611867
GeneReviews: NBK1523

Related Diseases for Chromosome 22q11.2 Deletion Syndrome, Distal

Diseases related to Chromosome 22q11.2 Deletion Syndrome, Distal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 695)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 33.6 UFD1 TBX1 SEPTIN5 PRODH MRPL40 HIRA
2 velocardiofacial syndrome 33.0 UFD1 TBX1 SEPTIN5 PRODH MRPL40 HIRA
3 teebi hypertelorism syndrome 1 32.3 SPECC1L-ADORA2A SPECC1L
4 tetralogy of fallot 31.6 UFD1 TBX1 PRODH HIRA DGCR5 CRKL
5 t-cell immunodeficiency with thymic aplasia 31.4 TBX1 PRODH HIRA GP1BB CRKL
6 ventricular septal defect 31.4 TBX1 PRODH HIRA
7 heart septal defect 31.3 TBX1 PRODH HIRA
8 facial clefting, oblique, 1 31.2 SPECC1L-ADORA2A SPECC1L
9 patent ductus arteriosus 1 30.8 TBX1 PRODH HIRA
10 schizophreniform disorder 30.8 PRODH COMT
11 chromosome 22q11.2 duplication syndrome 30.7 UFD1 TBX1 PRODH HIRA DGCR5 CRKL
12 orofacial cleft 30.6 TBX1 SPECC1L PRODH HIRA DGCR5
13 atrial heart septal defect 30.6 TBX1 PRODH HIRA
14 hyperprolinemia 30.6 PRODH DGCR5 COMT
15 chromosomal disease 30.6 TBX1 PRODH HIRA DGCR5 COMT
16 opitz gbbb syndrome 30.5 SPECC1L-ADORA2A SPECC1L
17 chromosomal deletion syndrome 30.5 TBX1 PRODH HIRA DGCR5 CRKL COMT
18 hyperprolinemia, type i 30.5 PRODH DGCR5
19 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 30.4 PRODH GP1BB
20 schizotypal personality disorder 30.4 PRODH COMT
21 tracheomalacia 30.4 SPECC1L HIRA
22 phobia, specific 30.2 PRODH COMT
23 dysthymic disorder 30.0 PRODH COMT
24 goldberg-shprintzen syndrome 11.7
25 cayler cardiofacial syndrome 11.6
26 digeorge syndrome/velocardiofacial syndrome complex 2 11.3
27 polymicrogyria 11.3
28 selective igm deficiency disease 11.2
29 mowat-wilson syndrome 11.2
30 polymicrogyria, bilateral perisylvian, x-linked 11.2
31 congenital unilateral hypoplasia of depressor anguli oris 11.2
32 aortic arch interruption 11.1
33 takayasu arteritis 11.1
34 omenn syndrome 11.1
35 hypoparathyroidism 10.6
36 conotruncal heart malformations 10.6
37 ichthyosis, congenital, autosomal recessive 9 10.5 TBX1 HIRA COMT
38 drug psychosis 10.5 PRODH COMT
39 drug-induced mental disorder 10.5 PRODH COMT
40 chromosome 6q24-q25 deletion syndrome 10.5 PRODH MRPL40
41 substance-induced psychosis 10.5 PRODH COMT
42 delusional disorder 10.5 PRODH COMT
43 cannabis abuse 10.4 PRODH COMT
44 bipolar i disorder 10.4 PRODH COMT
45 t cell deficiency 10.4
46 physical disorder 10.4 TBX1 PRODH DGCR5
47 immune deficiency disease 10.4
48 cleft palate, isolated 10.4
49 tricuspid atresia 10.4 TBX1 PRODH
50 van den ende-gupta syndrome 10.3 PRODH GP1BB

Graphical network of the top 20 diseases related to Chromosome 22q11.2 Deletion Syndrome, Distal:



Diseases related to Chromosome 22q11.2 Deletion Syndrome, Distal

Symptoms & Phenotypes for Chromosome 22q11.2 Deletion Syndrome, Distal

Human phenotypes related to Chromosome 22q11.2 Deletion Syndrome, Distal:

58 30 (show top 50) (show all 177)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Occasional (29-5%)
Very frequent (99-80%)
HP:0001249
2 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
3 global developmental delay 58 30 Very rare (1%) Frequent (79-30%)
Very frequent (99-80%)
HP:0001263
4 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000431
5 smooth philtrum 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000319
6 short stature 58 30 Frequent (33%) Frequent (79-30%)
Very frequent (99-80%)
HP:0004322
7 immunodeficiency 58 30 Occasional (7.5%) Very frequent (99-80%)
Occasional (29-5%)
HP:0002721
8 cleft palate 58 30 Very rare (1%) Very frequent (99-80%)
Occasional (29-5%)
HP:0000175
9 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000369
10 epicanthus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000286
11 atrial septal defect 58 30 Occasional (7.5%) Very frequent (99-80%)
Occasional (29-5%)
HP:0001631
12 conductive hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000405
13 upslanted palpebral fissure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000582
14 tetralogy of fallot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001636
15 highly arched eyebrow 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002553
16 prominent nasal bridge 58 30 Occasional (7.5%) Very frequent (99-80%)
Occasional (29-5%)
HP:0000426
17 hypoplasia of the thymus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000778
18 abnormal pulmonary valve morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001641
19 bulbous nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000414
20 telecanthus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000506
21 abnormality of the pharynx 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000600
22 nasal speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001611
23 ventricular septal defect 58 30 Occasional (7.5%) Very frequent (99-80%)
Occasional (29-5%)
HP:0001629
24 truncus arteriosus 58 30 Very rare (1%) Very frequent (99-80%)
Frequent (79-30%)
HP:0001660
25 platybasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002691
26 abnormal aortic arch morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012303
27 premature birth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001622
28 language impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002463
29 aphasia 30 Hallmark (90%) HP:0002381
30 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
31 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
32 short neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000470
33 chronic otitis media 58 30 Frequent (33%) Frequent (79-30%)
HP:0000389
34 carious teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000670
35 pes planus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001763
36 microcephaly 58 30 Frequent (33%) Occasional (29-5%)
Frequent (79-30%)
HP:0000252
37 intellectual disability, mild 58 30 Frequent (33%) Frequent (79-30%)
HP:0001256
38 acne 58 30 Frequent (33%) Frequent (79-30%)
HP:0001061
39 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0007018
40 intrauterine growth retardation 58 30 Very rare (1%) Occasional (29-5%)
Frequent (79-30%)
HP:0001511
41 specific learning disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001328
42 myalgia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003326
43 arachnodactyly 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0001166
44 neoplasm 58 30 Frequent (33%) Frequent (79-30%)
HP:0002664
45 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
46 overfolded helix 58 30 Frequent (33%) Frequent (79-30%)
HP:0000396
47 thin upper lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000219
48 long face 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0000276
49 long philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000343
50 deeply set eye 58 30 Very rare (1%) Frequent (79-30%)
HP:0000490

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Face:
frontal bossing
smooth philtrum
pointed chin

Head And Neck Head:
microcephaly
brachycephaly

Growth Other:
postnatal growth retardation
small for gestational age

Head And Neck Nose:
choanal atresia
hypoplastic alae nasi

Head And Neck Eyes:
synophrys
short palpebral fissures
upslanting palpebral fissures
arched eyebrows
deep set eyes

Skeletal Hands:
fifth finger clinodactyly

Genitourinary External Genitalia Male:
small penis

Head And Neck Ears:
preauricular skin tags

Prenatal Manifestations Delivery:
preterm delivery

Prenatal Manifestations Amniotic Fluid:
oligohydramnios (in some patients)

Neurologic Central Nervous System:
hypotonia
seizures
developmental delay
mental retardation
speech delay

Head And Neck Mouth:
cleft palate
cleft lip
thin upper lip

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
ventricular septal defect
dextrocardia

Cardiovascular Vascular:
patent ductus arteriosus
truncus arteriosus

Genitourinary Internal Genitalia Female:
uterus didelphys
double vagina

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
adhd
social immaturity

Genitourinary Internal Genitalia Male:
small testes

Chest Diaphragm:
diaphragmatic hernia

Neoplasia:
malignant renal/extra-renal/cns rhabdoid tumors

Prenatal Manifestations Maternal:
preeclampsia (in some patients)

Clinical features from OMIM®:

611867 (Updated 08-Dec-2022)

Drugs & Therapeutics for Chromosome 22q11.2 Deletion Syndrome, Distal

Drugs for Chromosome 22q11.2 Deletion Syndrome, Distal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
2
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
5 Neurotransmitter Agents Phase 4
6 Dopamine Antagonists Phase 4
7 Antipsychotic Agents Phase 4
8 Dopamine Agents Phase 4
9 Psychotropic Drugs Phase 4
10 Central Nervous System Stimulants Phase 4
11 Dopamine Uptake Inhibitors Phase 4
12
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
13
Tocopherol Approved, Investigational Phase 2, Phase 3 1406-66-2
14
Mineral oil Approved, Vet_approved Phase 2, Phase 3 8042-47-5
15
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
16
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9, 10191-41-0 2116 14985
17
Tocotrienol Investigational Phase 2, Phase 3 6829-55-6 9929901
18 Vitamins Phase 2, Phase 3
19 Omega 3 Fatty Acid Phase 2, Phase 3
20 Tocotrienols Phase 2, Phase 3
21 Tocopherols Phase 2, Phase 3
22 Calcium, Dietary Phase 3
23
Calcium Nutraceutical Phase 3 7440-70-2 271
24
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
25
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
26
Mycophenolic acid Approved, Investigational Phase 1, Phase 2 24280-93-1 446541
27
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643
28
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
29
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
30
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
31
Melphalan Approved Phase 2 148-82-3 4053 460612
32
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
33
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
34
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
35
Cannabidiol Approved, Investigational Phase 1, Phase 2 13956-29-1 521372 644019
36
Metyrosine Approved Phase 2 672-87-7 441350
37
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
38
Daclizumab Investigational, Withdrawn Phase 1, Phase 2 152923-56-3
39 Antirheumatic Agents Phase 1, Phase 2
40 Antineoplastic Agents, Hormonal Phase 1, Phase 2
41 Anti-Bacterial Agents Phase 1, Phase 2
42 Anti-Infective Agents Phase 1, Phase 2
43 Neuroprotective Agents Phase 1, Phase 2
44 Calcineurin Inhibitors Phase 1, Phase 2
45 Hormones Phase 1, Phase 2
46 Hormone Antagonists Phase 1, Phase 2
47 Antifungal Agents Phase 1, Phase 2
48 Antiemetics Phase 1, Phase 2
49 Anti-Inflammatory Agents Phase 1, Phase 2
50 glucocorticoids Phase 1, Phase 2

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 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome Genetically at High Risk for Psychosis: A Randomised, Double Blind, Placebo-controlled Treatment Trial. Unknown status NCT02070211 Phase 2, Phase 3
4 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
5 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
6 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
7 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
8 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
9 A Randomized, Placebo-Controlled Crossover Trial to Assess the Safety and Efficacy of NB-001 in Children and Adolescents With 22q11 Deletion Syndrome Recruiting NCT05290493 Phase 2 NB-001
10 Open-Label, Tolerability and Efficacy Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome Active, not recruiting NCT05149898 Phase 1, Phase 2 ZYN002
11 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
12 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
13 Thymus Transplantation With Immunosuppression, #884 Completed NCT00579709 Phase 1
14 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
15 Phase I Serum-Free Cultured Thymus Transplantation in DiGeorge Anomaly, IND9836 Terminated NCT00849888 Phase 1
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 Whole Blood Specimen Collection From Pregnant Subjects Unknown status NCT02430584
19 Safety and Efficacy of Thymus Transplantation in Complete DiGeorge Anomaly, IND#9836 Approved for marketing NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Mycophenolate mofetil
20 Effects of Modulation of the Dopaminergic System Using Methylphenidate on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Completed NCT04647500 Concerta
21 Genetic Modifiers for 22q11.2 Syndrome Completed NCT00916955
22 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
23 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
24 Facial Expression Perception by Intensity in Schizophrenia and 22q11.2 Deletion Syndrome: Neural Electrophysiological Evidence by Means of Fast Periodic Visual Stimulation Completed NCT02634671
25 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
26 Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q11.2-Hemideletion Syndrome Completed NCT00105274
27 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
28 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
29 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
30 SNP-based Microdeletion and Aneuploidy RegisTry Completed NCT02381457
31 Translational 22q11.2:"Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom" Completed NCT04141540
32 Put a Face to a Name (Part A): The Effects of Photographic Aids on Patient Satisfaction,Clinician Communication, and Quality of Care Completed NCT01658644
33 Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome Completed NCT02890472
34 Study of Arithmetic Abilities of Children With 22q11.2 Deletion Syndrome Aged From 4 to 11 Years Old Recruiting NCT04373226
35 Characterize the Behavioral Prodromes of Psychotic Disorders in Children With 22q11.2DS Aged From 4 to 13 Years Old Recruiting NCT04639388
36 Genetic Modifiers of 22q11.2 Deletion Syndrome Recruiting NCT00556530
37 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02 Recruiting NCT03375359
38 Congenital Athymia Patient Registry of RETHYMIC Recruiting NCT05329935
39 A Prospective Multi-Center Study of the AGN1 Local Osteo-Enhancement Procedure (LOEP) SV Kit in Patients With Vertebral Compression Fractures (VCFs) Recruiting NCT04821739
40 Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders Enrolling by invitation NCT03836300
41 Pilot Study: Self-Face Recognition After Face Transplantation Enrolling by invitation NCT03027141
42 Social Cognition Training and Cognitive Remediation : a New Tool for 22q11.2 Deletion Syndrome Terminated NCT03284060
43 Effects of Modulation of the Dopaminergic System Using Risperidone on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Terminated NCT04639960 Risperdal;Placebo
44 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005
45 Prevalence and Clincial Spectrum of the 22q11 Deletion: A Population Based Study of Children and Congenital Heart Defects Terminated NCT00267397
46 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
47 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

Search NIH Clinical Center for Chromosome 22q11.2 Deletion Syndrome, Distal

Cochrane evidence based reviews: chromosome 22q11.2 deletion syndrome, distal

Genetic Tests for Chromosome 22q11.2 Deletion Syndrome, Distal

Genetic tests related to Chromosome 22q11.2 Deletion Syndrome, Distal:

# Genetic test Affiliating Genes
1 Chromosome 22q11.2 Deletion Syndrome, Distal 28
2 Autosomal Dominant Opitz G/bbb Syndrome 28
3 22q11.2 Deletion Syndrome 28

Anatomical Context for Chromosome 22q11.2 Deletion Syndrome, Distal

Organs/tissues related to Chromosome 22q11.2 Deletion Syndrome, Distal:

MalaCards : Heart, Kidney, Thymus, Uterus, Lung, Eye, Bone

Publications for Chromosome 22q11.2 Deletion Syndrome, Distal

Articles related to Chromosome 22q11.2 Deletion Syndrome, Distal:

(show top 50) (show all 4209)
# Title Authors PMID Year
1
Role of TBX1 in human del22q11.2 syndrome. 62 24 5
14585638 2003
2
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system. 62 57
23765049 2014
3
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia. 62 5
24637876 2014
4
Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. 62 57
19938088 2009
5
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. 62 57
18179902 2008
6
High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. 62 57
17541642 2007
7
Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. 62 57
15831592 2005
8
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. 62 5
15703190 2005
9
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. 62 5
11242049 2001
10
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. 62 5
11239417 2001
11
A novel 22q11.2 microdeletion in DiGeorge syndrome. 62 57
9973528 1999
12
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. 62 57
9326327 1997
13
Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study. 62 24
31358905 2020
14
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 5
32576985 2020
15
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
16
Palatal evaluation and treatment in 22q11.2 deletion syndrome. 62 24
31038278 2019
17
Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. 62 24
30565249 2019
18
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review. 62 24
29159873 2018
19
The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias. 62 24
28940864 2018
20
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management. 62 24
29696780 2018
21
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. 62 24
30380191 2018
22
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. 62 24
29341423 2018
23
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes. 5
29500247 2018
24
Neuroradiographic findings in 22q11.2 deletion syndrome. 62 24
28577347 2017
25
22q11.2 deletion syndrome in diverse populations. 62 24
28328118 2017
26
Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis. 62 24
27436579 2016
27
Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism. 57
27880953 2016
28
22q11.2 deletion syndrome. 62 24
27189754 2015
29
A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease. 5
25860641 2015
30
Practical guidelines for managing adults with 22q11.2 deletion syndrome. 62 24
25569435 2015
31
Developmental trajectories in 22q11.2 deletion. 62 24
25989227 2015
32
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. 5
25516202 2014
33
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. 5
25205790 2014
34
Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome. 62 24
24735350 2014
35
Psychopathology and cognition in children with 22q11.2 deletion syndrome. 62 24
24115343 2014
36
Rare de novo copy number variants in patients with congenital pulmonary atresia. 5
24826987 2014
37
Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders. 57
23912948 2013
38
Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. 62 24
22711268 2012
39
Practical guidelines for managing patients with 22q11.2 deletion syndrome. 62 24
21570089 2011
40
Phenotypic variability of distal 22q11.2 copy number abnormalities. 57
21671380 2011
41
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). 62 24
21200182 2011
42
Aortic root dilation in patients with 22q11.2 deletion syndrome. 62 24
19353635 2009
43
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. 62 24
19403480 2009
44
Premature death in adults with 22q11.2 deletion syndrome. 62 24
19246480 2009
45
Genetic counseling for the 22q11.2 deletion. 62 24
18636638 2008
46
Ocular findings in the chromosome 22q11.2 deletion syndrome. 62 24
17140829 2007
47
Clinical features of 78 adults with 22q11 Deletion Syndrome. 62 24
16208694 2005
48
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
49
Thalamic reductions in children with chromosome 22q11.2 deletion syndrome. 62 24
15194864 2004
50
Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms. 62 24
15788257 2004

Variations for Chromosome 22q11.2 Deletion Syndrome, Distal

ClinVar genetic disease variations for Chromosome 22q11.2 Deletion Syndrome, Distal:

5 (show top 50) (show all 412)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 16 genes NC_000022.10:g.(?_18900668)_(19770565_?)del DEL Pathogenic
455788 GRCh37: 22:18900668-19770565
GRCh38:
2 overlap with 2 genes NC_000022.11:g.(?_19755901)_(19783042_?)del DEL Pathogenic
583599 GRCh37: 22:19743424-19770565
GRCh38: 22:19755901-19783042
3 overlap with 14 genes NC_000022.11:g.(?_19722428)_(19975757_?)del DEL Pathogenic
584158 GRCh37: 22:19709951-19963280
GRCh38: 22:19722428-19975757
4 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18901004-21408430) CN LOSS Pathogenic
625586 GRCh37: 22:18901004-21408430
GRCh38:
5 overlap with 28 genes GRCh37/hg19 22q11.21(chr22:18918741-20311922) CN LOSS Pathogenic
625620 GRCh37: 22:18918741-20311922
GRCh38:
6 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912403-21431174) CN LOSS Pathogenic
625621 GRCh37: 22:18912403-21431174
GRCh38:
7 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912870-21431174) CN LOSS Pathogenic
625625 GRCh37: 22:18912870-21431174
GRCh38:
8 overlap with 25 genes GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313) CN LOSS Pathogenic
625626 GRCh37: 22:21797384-23630313
GRCh38:
9 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18892575-21460220) CN LOSS Pathogenic
625679 GRCh37: 22:18892575-21460220
GRCh38:
10 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18892575-21460220) CN LOSS Pathogenic
625684 GRCh37: 22:18892575-21460220
GRCh38:
11 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18900755-21800277) CN LOSS Pathogenic
625739 GRCh37: 22:18900755-21800277
GRCh38:
12 TBX1 NC_000022.11:g.(?_19755950)_(19759697_?)del DEL Pathogenic
640457 GRCh37: 22:19743473-19747220
GRCh38: 22:19755950-19759697
13 overlap with 2 genes NC_000022.11:g.(?_19755901)_(19766877_?)del DEL Pathogenic
660156 GRCh37: 22:19743424-19754400
GRCh38: 22:19755901-19766877
14 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 CN LOSS Pathogenic
666443 GRCh37: 22:18661724-21505417
GRCh38:
15 overlap with 11 genes NC_000022.10:g.(?_19163623)_(19770565_?)del DEL Pathogenic
831644 GRCh37: 22:19163623-19770565
GRCh38:
16 TBX1 NC_000022.11:g.(?_19755901)_(19759687_?)del DEL Pathogenic
831941 GRCh37: 22:19743424-19747210
GRCh38:
17 TBX1 NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) DEL Pathogenic
971780 rs1936634853 GRCh37: 22:19748451-19748646
GRCh38: 22:19760928-19761123
18 overlap with 20 genes NC_000022.10:g.21514655_22986816del DEL Pathogenic
973580 GRCh37: 22:21514655-22986816
GRCh38:
19 TBX1 NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter) SNV Pathogenic
1378052 GRCh37: 22:19748552-19748552
GRCh38: 22:19761029-19761029
20 TBX1 NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs) INSERT Pathogenic
1031062 rs1936852915 GRCh37: 22:19754053-19754054
GRCh38: 22:19766530-19766531
21 TBX1 NC_000022.10:g.(?_19748454)_19748649del DEL Pathogenic
1071029 GRCh37:
GRCh38:
22 overlap with 48 genes DEL Pathogenic
1077187 GRCh37: 22:18893882-21571027
GRCh38:
23 overlap with 48 genes DEL Pathogenic
1077190 GRCh37: 22:18893882-21563420
GRCh38:
24 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1 CN LOSS Pathogenic
1330197 GRCh37: 22:18660135-21737597
GRCh38:
25 TBX1 NM_001379200.1(TBX1):c.881del (p.Lys294fs) DEL Pathogenic
1432687 GRCh37: 22:19753293-19753293
GRCh38: 22:19765770-19765770
26 overlap with 18 genes NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del DEL Pathogenic
830215 GRCh37: 22:21822774-23025613
GRCh38:
27 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912403-21431174) CN LOSS Pathogenic
915966 GRCh37: 22:18912403-21431174
GRCh38:
28 overlap with 78 genes DEL Pathogenic
812919 GRCh37: 22:18475385-23764120
GRCh38:
29 overlap with 17 genes NC_000022.10:g.21808950_22963000del1154051 DEL Pathogenic
599193 GRCh37: 22:21808950-22963000
GRCh38:
30 overlap with 16 genes NC_000022.10:g.(?_18910310)_(19770565_?)del DEL Pathogenic
526039 GRCh37: 22:18910310-19770565
GRCh38:
31 TBX1 NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) DEL Pathogenic
949172 rs1936640897 GRCh37: 22:19748554-19748579
GRCh38: 22:19761031-19761056
32 TBX1 NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter) SNV Pathogenic
526036 rs1555895466 GRCh37: 22:19748685-19748685
GRCh38: 22:19761162-19761162
33 TBX1 NM_001379200.1(TBX1):c.195_229del (p.Ala66fs) DEL Pathogenic
1354584 GRCh37: 22:19748552-19748586
GRCh38: 22:19761029-19761063
34 TBX1 NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter) SNV Pathogenic
1445413 GRCh37: 22:19753938-19753938
GRCh38: 22:19766415-19766415
35 overlap with 43 genes NC_000022.10:g.(?_18900688)_(21351637_?)del DEL Pathogenic
1071026 GRCh37: 22:18900688-21351637
GRCh38:
36 TBX1 NC_000022.10:g.(?_19743226)_(19755855_?)del DEL Pathogenic
1071027 GRCh37: 22:19743226-19755855
GRCh38:
37 TBX1 NC_000022.10:g.(?_19747167)_(19754390_?)del DEL Pathogenic
1071028 GRCh37: 22:19747167-19754390
GRCh38:
38 TBX1 NM_001379200.1(TBX1):c.1117del (p.Leu373fs) DEL Pathogenic
1071222 GRCh37: 22:19753992-19753992
GRCh38: 22:19766469-19766469
39 TBX1 NM_001379200.1(TBX1):c.1096del (p.Asp366fs) DEL Pathogenic
1073688 GRCh37: 22:19753968-19753968
GRCh38: 22:19766445-19766445
40 overlap with 16 genes NC_000022.10:g.(?_18900668)_(19747220_?)del DEL Pathogenic
1456987 GRCh37: 22:18900668-19747220
GRCh38:
41 TBX1 NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs) DUP Pathogenic
1402928 GRCh37: 22:19752561-19752562
GRCh38: 22:19765038-19765039
42 overlap with 77 genes DUP Pathogenic
1703237 GRCh37:
GRCh38: 22:18985739-21081116
43 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18645353-21800797) CN LOSS Pathogenic
1703639 GRCh37: 22:18645353-21800797
GRCh38:
44 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18644790-21798907) CN LOSS Pathogenic
1703640 GRCh37: 22:18644790-21798907
GRCh38:
45 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18916842-21798907) CN LOSS Pathogenic
1703641 GRCh37: 22:18916842-21798907
GRCh38:
46 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18644790-21800471) CN LOSS Pathogenic
1703642 GRCh37: 22:18644790-21800471
GRCh38:
47 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18648866-21798907) CN LOSS Pathogenic
1703643 GRCh37: 22:18648866-21798907
GRCh38:
48 overlap with 48 genes GRCh37/hg19 22q11.21(chr22:18893344-21650280) CN LOSS Pathogenic
1703644 GRCh37: 22:18893344-21650280
GRCh38:
49 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 CN LOSS Pathogenic
636280 GRCh37: 22:18912231-21465672
GRCh38:
50 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 CN LOSS Pathogenic
636281 GRCh37: 22:18631364-21800471
GRCh38:

Copy number variations for Chromosome 22q11.2 Deletion Syndrome, Distal from CNVD:

6 (show all 28)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 157439 21 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
2 160238 22 11800000 24300000 Deletion COMT velo-cardio-facial syndrome
3 160243 22 11800000 24300000 Deletion DGCR6 velo-cardio-facial syndrome
4 160251 22 11800000 24300000 Deletion PRODH velo-cardio-facial syndrome
5 160261 22 11800000 24300000 Microdeletion 22q11.2 microdeletion syndrome
6 160281 22 11800000 24300000 Microdeletions 22q11.2 microdeletion syndrome
7 160775 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
8 160776 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
9 160777 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
10 160778 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
11 160779 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
12 160780 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
13 160781 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
14 160803 22 16300000 24300000 Deletion velo-cardio-facial syndrome
15 160804 22 16300000 24300000 Deletion velo-cardio-facial syndrome
16 160805 22 16300000 24300000 Deletion CHEK2 22q11.2 microdeletion syndrome
17 160811 22 16300000 24300000 Deletion TBX1 22q11.2 microdeletion syndrome
18 160816 22 16300000 24300000 Deletion TBX1 22q11.2 microdeletion syndrome
19 160827 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
20 160828 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
21 160829 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
22 160830 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
23 160831 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
24 160844 22 16300000 24300000 Microdeletion Velo-cardio-facial syndrome
25 160848 22 16300000 24300000 Microdeletion velo-cardio-facial syndrome
26 160852 8 72272221 72437021 Microdeletion EYA1 Velo-cardio-facial syndrome
27 160855 14 60181169 60185908 Microdeletion SIX1 Velo-cardio-facial syndrome
28 161457 22 19000000 22000000 Microdeletion 22q11.2 deletion syndrome

Expression for Chromosome 22q11.2 Deletion Syndrome, Distal

Search GEO for disease gene expression data for Chromosome 22q11.2 Deletion Syndrome, Distal.

Pathways for Chromosome 22q11.2 Deletion Syndrome, Distal

Pathways related to Chromosome 22q11.2 Deletion Syndrome, Distal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.48 UFD1 TBX1 SEPTIN5 PRODH MRPL40 HIRA

GO Terms for Chromosome 22q11.2 Deletion Syndrome, Distal

Biological processes related to Chromosome 22q11.2 Deletion Syndrome, Distal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 outer ear morphogenesis GO:0042473 9.46 TBX1 MAPK1
2 parathyroid gland development GO:0060017 9.26 TBX1 CRKL
3 thymus development GO:0048538 9.1 TBX1 MAPK1 CRKL

Sources for Chromosome 22q11.2 Deletion Syndrome, Distal

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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