Treacher Collins Syndrome 1 malady
Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories
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Aliases & Descriptions for Treacher Collins Syndrome 1:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases, Bone diseases
ICD10: 28 27
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy
NIH Rare Diseases:45 Treacher collins syndrome (tcs) is a condition that affects the development of bones and other tissues in the face. the signs and symptoms of this disorder 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 it is due to the tcof1 or polr1d gene, it is inherited in an autosomal dominant manner. about 60% of these cases are due to a new mutation in the gene and are not inherited from a parent. when it is due to the polr1c gene, it is inherited in an autosomal recessive manner. in some cases, the genetic cause of the condition is unknown. last updated: 10/27/2014
MalaCards based summary: Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis 1, nager type and dysostosis, and has symptoms including malar flattening, small face and micrognathia. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacher Collins-Franceschetti Syndrome 1), and among its related pathways are Inhibition of Ribosome Biogenesis by p14(ARF) and Assembly of RNA Polymerase-I Initiation Complex. Affiliated tissues include bone, eye and thyroid.
Genetics Home Reference:23 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:49 Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the... (154500) more...
UniProtKB/Swiss-Prot:67 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 summary for tcs
Symptoms by clinical synopsis from OMIM:154500
Clinical features from OMIM:154500
Symptoms:51 (show all 64)
HPO human phenotypes related to Treacher Collins Syndrome 1:(show all 70)
Interventional clinical trials:
Search NIH Clinical Center for Treacher Collins Syndrome 1
MalaCards organs/tissues related to Treacher Collins Syndrome 1:33
Bone, Eye, Thyroid, Testes, Adrenal gland, Skin, Lung
UniProtKB/Swiss-Prot genetic disease variations for Treacher Collins Syndrome 1:67
Clinvar genetic disease variations for Treacher Collins Syndrome 1:5 (show all 24)
Search GEO for disease gene expression data for Treacher Collins Syndrome 1.
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 12)
Molecular functions related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet