Velocardiofacial Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases, Blood diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Velocardiofacial Syndrome:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: any age
Inheritance: autosomal dominant inheritance
Penetrance: penetrance is complete in individuals with 22q112ds; variability is marked...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Blood diseases
ICD10: 30 29
Rare neurological diseases
Rare cardiac malformations
Rare renal diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases
UniProtKB/Swiss-Prot:69 Velocardiofacial syndrome: A syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders.
MalaCards based summary: Velocardiofacial Syndrome, also known as shprintzen syndrome, is related to cayler cardiofacial syndrome and chromosome 22q11.2 deletion syndrome, distal, and has symptoms including oral cleft, epicanthus and low-set, posteriorly rotated ears. An important gene associated with Velocardiofacial Syndrome is TBX1 (T-Box 1), and among its related pathways are ECM-receptor interaction and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include thymus, heart and bone, and related mouse phenotype hematopoietic system.
Disease Ontology:11 A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
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.
Description from OMIM:51 192430
GeneReviews for NBK1523
Human phenotypes related to Velocardiofacial Syndrome:63 53 (show all 174)
UMLS symptoms related to Velocardiofacial Syndrome:observation of narrowing of palpebral fissure
Drugs for Velocardiofacial Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 86)
Interventional clinical trials:(show all 33)
Search NIH Clinical Center for Velocardiofacial Syndrome
MalaCards organs/tissues related to Velocardiofacial Syndrome:35
Thymus, Heart, Bone, Kidney, T cells, Brain, Tonsil
Articles related to Velocardiofacial Syndrome:(show top 50) (show all 207)
UniProtKB/Swiss-Prot genetic disease variations for Velocardiofacial Syndrome:69
Clinvar genetic disease variations for Velocardiofacial Syndrome:5
Copy number variations for Velocardiofacial Syndrome from CNVD:6 (show top 50) (show all 67)
Search GEO for disease gene expression data for Velocardiofacial Syndrome.
Pathways related to Velocardiofacial Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Velocardiofacial Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet