ORPHA:567
22q11.2 deletion syndrome
Synonyms: 22q11DS · CATCH 22 · Cayler cardiofacial syndrome · Conotruncal anomaly face syndrome · DiGeorge sequence · DiGeorge syndrome · Microdeletion 22q11.2 · Monosomy 22q11 · Sedlackova syndrome · Shprintzen syndrome · Takao syndrome · Velocardiofacial syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 22q11.2 deletion syndrome | 22q11DS · CATCH 22 · Cayler cardiofacial syndrome · Conotruncal anomaly face syndrome · DiGeorge sequence · DiGeorge syndrome · Microdeletion 22q11.2 · Monosomy 22q11 · Sedlackova syndrome · Shprintzen syndrome · Takao syndrome · Velocardiofacial syndrome |
| fr | Syndrome de délétion 22q11.2 | 22q11DS · CATCH 22 · Microdélétion 22q11.2 · Monosomie 22q11 · Syndrome cardio-facial de Cayler · Syndrome de DiGeorge · Syndrome de Sedlackova · Syndrome de Shprintzen · Syndrome de Takao · Syndrome des anomalies conotroncales et de la face · Syndrome vélo-cardio-facial · Séquence de DiGeorge |
| de | 22q11.2-Deletionssyndrom | 22q11DS · CATCH 22 · Cayler kardiofaziales Syndrom · DS22q11 · Di George-Syndrom · DiGeorge-Sequenz · Mikrodeletion 22q11.2 · Monosomie 22q11 · Sedlackova-Syndrom · Sphrintzen-Syndrom · Syndrom der konotrunkalen Anomalie mit Gesichtsdysmorphie · Takao-Syndrom · Velokardiofaziales Syndrom |
| es | Síndrome de deleción 22q11.2 | 22q11DS · CATCH 22 · Microdeleción 22q11.2 · Monosomía 22q11 · Secuencia de DiGeorge · Síndrome cardiofacial de Cayler · Síndrome de DiGeorge · Síndrome de Sedlackova · Síndrome de Shprintzen · Síndrome de Takao · Síndrome facial con anomalía conotruncal · Síndrome velocardiofacial |
| it | Sindrome da delezione 22q11.2 | 22q11DS · CATCH 22 · Microdelezione 22q11.2 · Monosomia 22q11 · Sequenza di DiGeorge · Sindrome cardiofacciale di Cayler · Sindrome da anomalie facciali e troncoconali · Sindrome di DiGeorge · Sindrome di Sedlackova · Sindrome di Shprintzen · Sindrome di Takao · Sindrome velo-cardio-facciale |
| nl | 22q11.2-deletiesyndroom | 22q11DS · CATCH 22 · Cardiofaciaal syndroom van Cayler · Conotruncale en aangezichtsanomalie-syndroom · DiGeorge-sequentie · Microdeletie 22q11.2 · Monosomie 22q11 · Syndroom van DiGeorge · Syndroom van Sedlackova · Syndroom van Shprintzen · Syndroom van Takao · VCFS · Velocardiofaciaal syndroom |
| pt | Síndrome de deleção 22q11.2 | CATCH 22 · Síndrome DiGeorge · Síndrome Shprintzen · Síndrome velocardiofacial |
| pl | Zespół delecji 22q11.2 | 22q11DS · CATCH 22 · Mikrodelecja 22q11.2 · Monosomia 22q11 · Sekwencja DiGeorge · Zespół CTAFS (Conotruncal anomaly face syndrome) · Zespół DiGeorge · Zespół podniebienno-sercowo-twarzowy · Zespół Sedlackova · Zespół sercowo-twarzowy Cayler · Zespół Shprintzena · Zespół Takao |
| cs | Mikrodeleční syndrom 22q11.2 | 22q11DS · CATCH 22 · Kardiofaciální syndrom · DiGeorgeova sekvence · Mikrodelece 22q11.2 · Monozomie 22q11 · Velokardiofaciální syndrom · Caylerův syndrom · Syndrom konotrunkální anomálie obličeje · DiGeorgeův syndrom · Syndrom Sedláčkové · Shprintzenův syndrom · Takaův syndrom |
| uk | Синдром делеції 22q11.2 | 22q11DS · CATCH 22 · Кардіофасціальний синдром Кейлера · Синдром конотранкальної аномалії обличчя · Послідовність Ді Джорджи · Синдром Ді Джорджи · Мікроделеція 22q11.2 · Моносомія 22q11 · Синдром Седлачкова · Синдром Шпрінцена · Синдром Такао · Велокардіофасціальний синдром |
| zh | 22q11.2缺失综合征 | 圆锥动脉干异常-面综合征 |
| tr | 22q11.2 delesyon sendromu | 22q11DS · CATCH 22 · Monozomi 22q11 · Takao sendromu · DiGeorge dizisi · DiGeorge sendromu · Sedlackova sendromu · Shprintzen sendromu · Mikrodelesyon 22q11.2 · Velokardiyofasiyal sendrom · Cayler kardiyofasiyal sendrom · Konotrunkal anomali yüz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125520 | BTNT | validated | |
| OMIM | 188400 | BTNT | validated | |
| OMIM | 192430 | BTNT | validated | |
| ICD-10 | D82.1 | E | specific | validated |
| ICD-11 | LD44.N0 | E | specific | validated |
| MONDO | 0018923 | E | validated | |
| MeSH | D004062 | E | validated | |
| UMLS | C0012236 | E | validated | |
| GARD | 10299 | E | validated | |
| MedDRA | 10012979 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (12):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262182Partial deletion of the long arm of chromosome 22 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:138047Pierre Robin syndrome associated with a chromosomal anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:98033Rare neurologic disease with psychiatric involvement
rare neurological diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:331220Syndome with combined immunodeficiency due to thymic defect
rare genetic diseases; rare immunological diseases - ORPHA:181402Syndrome with hypoparathyroidism
rare genetic diseases; rare endocrine diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11592 | ENSG00000184058 | 602054 | 22q11.21 | T-box transcription factor 1 | 14585638[PMID] |
| JMJD1C | Modifying germline mutation in | Assessed | HGNC:12313 | ENSG00000171988 | 604503 | 10q21.3 | jumonji domain containing 1C | 26608785[PMID] |
| RREB1 | Modifying germline mutation in | Assessed | HGNC:10449 | ENSG00000124782 | 602209 | 6p24.3 | ras responsive element binding protein 1 | 26608785[PMID] |
| SEC24C | Modifying germline mutation in | Assessed | HGNC:10705 | ENSG00000176986 | 607185 | 10q22.2 | SEC24 homolog C, COPII component | 26608785[PMID] |
| ARVCF | Role in the phenotype of | Assessed | HGNC:728 | ENSG00000099889 | 602269 | 22q11.21 | ARVCF delta catenin family member | |
| COMT | Role in the phenotype of | Assessed | HGNC:2228 | ENSG00000093010 | 116790 | 22q11.21 | catechol-O-methyltransferase | 23992923[PMID] |
| GP1BB | Role in the phenotype of | Assessed | HGNC:4440 | ENSG00000203618 | 138720 | 22q11.21 | glycoprotein Ib platelet subunit beta | |
| HIRA | Role in the phenotype of | Assessed | HGNC:4916 | ENSG00000100084 | 600237 | 22q11.21 | histone cell cycle regulator | 15177686[PMID] |
| TBX1 | Role in the phenotype of | Assessed | HGNC:11592 | ENSG00000184058 | 602054 | 22q11.21 | T-box transcription factor 1 | |
| UFD1 | Role in the phenotype of | Assessed | HGNC:12520 | ENSG00000070010 | 601754 | 22q11.21 | ubiquitin recognition factor in ER associated degradation 1 |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 9.6 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 10.3 / 100 000 | France | Value and class | Not yet validated | 8863171[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 37.5 / 100 000 | Worldwide | Value and class | Not yet validated | 21570089[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 16.8 / 100 000 | United States | Value and class | Validated | 12837874[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | European Medicines Agency 2019[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
131 annotations · validated 2024-01-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012303 | Abnormal aortic arch morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0001641 | Abnormal pulmonary valve morphology | |
| HP:0000600 | Abnormality of the pharynx | |
| HP:0002381 | Aphasia | |
| HP:0001631 | Atrial septal defect | |
| HP:0000414 | Bulbous nose | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000286 | Epicanthus | |
| HP:0001611 | Hypernasal speech | |
| HP:0000778 | Hypoplasia of the thymus | |
| HP:0001252 | Hypotonia | |
| HP:0002721 | Immunodeficiency | |
| HP:0000369 | Low-set ears | |
| HP:0002691 | Platybasia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000506 | Telecanthus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001660 | Truncus arteriosus | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0011840 | Abnormality of T cell physiology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0100765 | Abnormality of the tonsils | |
| HP:0001061 | Acne | |
| HP:0012732 | Anorectal anomaly | |
| HP:0000739 | Anxiety | |
| HP:0001166 | Arachnodactyly | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000670 | Carious teeth | |
| HP:0000389 | Chronic otitis media | |
| HP:0002019 | Constipation | |
| HP:0011496 | Corneal neovascularization | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002901 | Hypocalcemia | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000276 | Long face | |
| HP:0000343 | Long philtrum | |
| HP:0000272 | Malar flattening | |
| HP:0002435 | Meningocele | |
| HP:0003326 | Myalgia | |
| HP:0000396 | Overfolded helix | |
| HP:0000627 | Posterior embryotoxon | |
| HP:0000508 | Ptosis | |
| HP:0000089 | Renal hypoplasia | |
| HP:0002650 | Scoliosis | |
| HP:0001051 | Seborrheic dermatitis | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000385 | Small earlobe | |
| HP:0001328 | Specific learning disability | |
| HP:0001281 | Tetany | |
| Occasional (29-5%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0001872 | Abnormality of thrombocytes | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0002023 | Anal atresia | |
| HP:0002139 | Arrhinencephaly | |
| HP:0001369 | Arthritis | |
| HP:0002099 | Asthma | |
| HP:0100750 | Atelectasis | |
| HP:0000708 | Atypical behavior | |
| HP:0000717 | Autism | |
| HP:0002960 | Autoimmunity | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0002607 | Bowel incontinence | |
| HP:0000518 | Cataract | |
| HP:0000453 | Choanal atresia | |
| HP:0001081 | Cholelithiasis | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0000028 | Cryptorchidism | |
| HP:0000716 | Depression | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001829 | Foot polydactyly | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000501 | Glaucoma | |
| HP:0001161 | Hand polydactyly | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0100735 | Hypertensive crisis | |
| HP:0000836 | Hyperthyroidism | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000047 | Hypospadias | |
| HP:0000821 | Hypothyroidism | |
| HP:0000023 | Inguinal hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0002566 | Intestinal malrotation | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0001601 | Laryngomalacia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0005562 | Multiple renal cysts | |
| HP:0011324 | Multiple suture craniosynostosis | |
| HP:0000160 | Narrow mouth | |
| HP:0001513 | Obesity | |
| HP:0000648 | Optic atrophy | |
| HP:0001300 | Parkinsonism | |
| HP:0002999 | Patellar dislocation | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0001561 | Polyhydramnios | |
| HP:0000979 | Purpura | |
| HP:0001136 | Retinal arteriolar tortuosity | |
| HP:0100753 | Schizophrenia | |
| HP:0001250 | Seizure | |
| HP:0000322 | Short philtrum | |
| HP:0002414 | Spina bifida | |
| HP:0001744 | Splenomegaly | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001873 | Thrombocytopenia | |
| HP:0011662 | Tricuspid atresia | |
| HP:0000262 | Turricephaly | |
| HP:0001537 | Umbilical hernia | |
| HP:0002619 | Varicose veins | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 26056486[PMID]_20301696[PMID]_36729053[PMID]_36729052[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/567
- This record as JSON: /data/d/567.json