Digeorge Syndrome malady
Genetic diseases, Gastrointestinal diseases, Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases, Blood diseases, Rare diseases, Immune diseases categories
OMIM:46 DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow... (188400) more...
MalaCards based summary: Digeorge Syndrome, also known as digeorge sequence, is related to velocardiofacial syndrome and hypoparathyroidism, and has symptoms including oral cleft, epicanthus and low-set, posteriorly rotated ears. An important gene associated with Digeorge Syndrome is DGCR (DiGeorge syndrome chromosome region). The compound bupropion have been mentioned in the context of this disorder. Affiliated tissues include t cells, heart and thymus, and related mouse phenotype no phenotypic analysis.
Disease Ontology:9 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.
Wikipedia:64 22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge... more...
Description from OMIM:46 192430
Digeorge Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Gastrointestinal diseases, Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Blood diseases, Immune diseases
ICD10: 27 26
Rare neurological diseases
Rare cardiac malformations
Rare renal diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy; Age of death: Any age
Symptoms by clinical synopsis from OMIM:188400
Clinical features from OMIM:188400,192430
Symptoms:48 (show all 98)
HPO human phenotypes related to Digeorge Syndrome:(show all 133)
MalaCards organs/tissues related to Digeorge Syndrome:32
T cells, Heart, Thymus, Kidney, Bone, Testes, Uterus, Bone marrow, Liver, Thyroid, B cells, Endothelial, Eye, Brain, Smooth muscle, Lung, Pancreas, Trachea
Articles related to Digeorge Syndrome:(show top 50) (show all 346)
UniProtKB/Swiss-Prot genetic disease variations for Digeorge Syndrome:63
Clinvar genetic disease variations for Digeorge Syndrome:7
Search GEO for disease gene expression data for Digeorge Syndrome.
Cellular components related to Digeorge Syndrome according to GeneCards/GeneDecks:
Biological processes related to Digeorge Syndrome according to GeneCards/GeneDecks:
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet