Treacher Collins Syndrome 1 malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 44NCIt, 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 Treacher Collins Syndrome 1:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy
treacher collins syndrome 1:
Inheritance: autosomal dominant inheritance
Penetrance: penetrance of mutations associated with tcs is high, but cases of non-penetrance have been reported...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases, Bone diseases
ICD10: 30 29
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Other features may include cleft palate, eye abnormalities, and hearing loss. TCS may be caused by mutations in the TCOF1, POLR1C, or POLR1D genes. When the TCOF1 or POLR1D gene is responsible, it is inherited in an autosomal dominant manner. However, about 60% of autosomal dominant cases are due to a new mutation in the gene and are not inherited from a parent. When the POLR1C gene is responsible, it is inherited in an autosomal recessive manner. In some cases, the genetic cause of the condition is unknown. Last updated: 11/11/2015
MalaCards based summary: Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis 1, nager type and mandibulofacial dysostosis with alopecia, and has symptoms including malar flattening, small face and micrognathia. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacle Ribosome Biogenesis Factor 1), and among its related pathways are Assembly of RNA Polymerase-I Initiation Complex and Inhibition of Ribosome Biogenesis by p14(ARF). Affiliated tissues include bone, eye and thyroid, and related mouse phenotype skeleton.
Genetics Home Reference:25 Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.
OMIM:51 Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the... (154500) more...
UniProtKB/Swiss-Prot:69 Treacher Collins syndrome 1: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
GeneReviews for NBK1532
Human phenotypes related to Treacher Collins Syndrome 1:63 53 (show all 88)
Interventional clinical trials:
Search NIH Clinical Center for Treacher Collins Syndrome 1
MalaCards organs/tissues related to Treacher Collins Syndrome 1:35
Bone, Eye, Thyroid, Thymus, Skin, Heart, Adrenal gland
UniProtKB/Swiss-Prot genetic disease variations for Treacher Collins Syndrome 1:69
Clinvar genetic disease variations for Treacher Collins Syndrome 1:5 (show all 12)
Copy number variations for Treacher Collins Syndrome 1 from CNVD:6
Search GEO for disease gene expression data for Treacher Collins Syndrome 1.
Pathways related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:
Cellular components related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:(show all 8)
Molecular functions related to Treacher Collins Syndrome 1 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