Digeorge syndrome

Preferred Label : Digeorge syndrome;

Symbol : DGS;

CISMeF acronym : DGCR; DGS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 22q11.2 deletion syndrome; Hypoplasia of thymus and parathyroids; Third and fourth pharyngeal pouch syndrome;

Included titles and symbols : Digeorge syndrome chromosome region; Takao vcf syndrome; Catch22; DGCR;

Description : 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.;

Inheritance : Autosomal dominant;

Molecular basis : A contiguous gene syndrome involving deletion of the DiGeorge syndrome chromosome region (DGCR) involving mutations in TUP-like enhancer of split 1 (TUPLE1, 600237) and DiGeorge critical region gene 2 (DGCR2, 600594);

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;

Prefixed ID : #188400;

Details

Origin ID

188400;

UMLS CUI

C0012236;

Currated CISMeF NLP mapping
- 22q11 deletion syndrome [MeSH concept]
- 22q11 deletion syndrome [MeSH Descriptor]
- 22q11.2 Deletion Syndrome [NCIt concept]
- 22q11.2 deletion syndrome [MedDRA Preferred Term]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- CATCH 22 phenotype [ICD-11 Sub-sub category]
- Di George's syndrome [ICD-10 Sub-category]
- DiGeorge sequence (disorder) [Inactive SNOMED CT concept]
- DiGeorge syndrome [PASCAL descriptor]
- DiGeorge syndrome [DO Concept]
- DiGeorge syndrome [Disease (Nov.)]
- DiGeorge syndrome [MeSH concept]
- DiGeorge's syndrome [MedDRA Preferred Term]
- Digeorge's syndrome [ICD-9 code]
- Thymic-parathyroid aplasia [MedDRA LLT]
- chromosome 22, microdeletion 22 q11 [MeSH Supplementary Concept]
- digeorge sequence [SNOMED Notion]
- digeorge syndrome [MeSH Descriptor]
- velocardiofacial syndrome [DO Concept]
- velocardiofacial syndrome [MeSH concept]
DO Cross reference
- DiGeorge syndrome [DO Concept]
False automatic mappings
- Decigram [NCIt concept]
- Decigram (qualifier value) [SNOMED CT concept]
- Diego Garcia [NCIt concept]
Genes related to phenotype
- T-box transcription factor 1 [OMIM gene]
HPO term(s)
- Abnormality of the middle ear [HPO term]
- Abnormality of the thymus [HPO term]
- Accommodative esotropia [HPO term]
- Acne [HPO term]
- Amblyopia [HPO term]
- Anemia [HPO term]
- Asthma [HPO term]
- Atelectasis [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Bipolar affective disorder [HPO term]
- Blepharophimosis [HPO term]
- Cholelithiasis [HPO term]
- Chronic pulmonary obstruction [HPO term]
- Cleft palate [HPO term]
- Decreased circulating parathyroid hormone level [HPO term]
- Delayed speech and language development [HPO term]
- Drooling [HPO term]
- Esophoria [HPO term]
- Esotropia [HPO term]
- Exotropia [HPO term]
- Femoral hernia [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hemiparesis [HPO term]
- Hepatic steatosis [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hydrocele testis [HPO term]
- Hydronephrosis [HPO term]
- Hypernasal speech [HPO term]
- Hypertelorism [HPO term]
- Hypocalcemia [HPO term]
- Hypoplasia of the thymus [HPO term]
- Hypothyroidism [HPO term]
- Immune defect due to a T cell deficit [HPO term]
- Impaired T cell function [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Interrupted aortic arch [HPO term]
- Intervertebral disc degeneration [HPO term]
- Late-onset speech development [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nasal speech [HPO term]
- Obesity [HPO term]
- Ovarian cyst [HPO term]
- Parathyroid agenesis [HPO term]
- Parathyroid hypoplasia [HPO term]
- Patellar dislocation [HPO term]
- Patent ductus arteriosus [HPO term]
- Pilonidal sinus [HPO term]
- Posterior embryotoxon [HPO term]
- Recurrent infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
- Renal dysplasia [HPO term]
- Renal insufficiency [HPO term]
- Right aortic arch with mirror image branching [HPO term]
- Schizophrenia [HPO term]
- Sclerocornea [HPO term]
- Scoliosis [HPO term]
- Seborrheic dermatitis [HPO term]
- Seizure [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Specific learning disability [HPO term]
- Splenomegaly [HPO term]
- Susceptibility to infection [HPO term]
- Tetany [HPO term]
- Tetralogy of Fallot [HPO term]
- Thrombocytopenia [HPO term]
- Truncus arteriosus [HPO term]
- Umbilical hernia [HPO term]
- Unilateral renal agenesis [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- 22q11.2 deletion syndrome [ORDO Disease]
See also inter- (CISMeF)
- 22q11.2 deletion syndrome [ORDO Disease]
- Shprintzen syndrome (disorder) [Inactive SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 22q11.2 Deletion Syndrome [NCIt concept]
- 22q11.2 deletion syndrome [MedDRA Preferred Term]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Di George's syndrome [ICD-10 Sub-category]
- DiGeorge sequence (disorder) [Inactive SNOMED CT concept]
- DiGeorge syndrome [MeSH concept]
- DiGeorge syndrome [DO Concept]
- DiGeorge syndrome [PASCAL descriptor]
- DiGeorge syndrome [Disease (Nov.)]
- DiGeorge's syndrome [MedDRA Preferred Term]
- Digeorge's syndrome [ICD-9 code]
- Thymic-parathyroid aplasia [MedDRA LLT]
- digeorge sequence [SNOMED Notion]
- digeorge syndrome [MeSH Descriptor]

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