Treacher collins syndrome 1

Preferred Label : Treacher collins syndrome 1;

Symbol : TCS1;

CISMeF acronym : MFD1; TCOF; TCS; TCS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mandibulofacial dysostosis; TCS; Treacher collins syndrome; Treacher collins-franceschetti syndrome; MFD1; TCOF;

Description : Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). - Genetic Heterogeneity of Treacher Collins Syndrome Treacher Collins syndrome-2 (TCS2; 613717) is caused by heterozygous mutation in the POLR1D gene (613715) on chromosome 13q12.2. Treacher Collins syndrome-3 (TCS3; 248390) is caused by compound heterozygous mutation in the POLR1C gene (610060) on chromosome 6.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the treacle gene (TCOF1, 154500.0001);

Prefixed ID : #154500;

Détails

Origin ID

154500;

UMLS CUI

C0242387;

Automatic exact mappings (from CISMeF team)
- Mandibulofacial dysostosis [ICD-11 More detail]
- TCOF1 wt Allele [NCIt concept]
- TERT wt Allele [NCIt concept]
- telomerase reverse transcriptase [ORDO Gene]
- telomerase reverse transcriptase [HGNC gene]
- treacle ribosome biogenesis factor 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Franceschetti's syndrome [MedDRA LLT]
- Mandibulofacial dysostosis [PASCAL descriptor]
- Mandibulofacial dysostosis [ICD-10 Sub-category]
- Mandibulofacial dysostosis [ICD-10 Sub-category (who)]
- Mandibulofacial dysostosis [HPO term]
- Mandibulofacial dysostosis [MedDRA Preferred Term]
- Mandibulofacial dysostosis [ORDO Disease]
- Treacher Collins Syndrome [NCIt concept]
- Treacher Collins syndrome [DO Concept]
- Treacher Collins syndrome [PASCAL descriptor]
- Treacher Collins syndrome (disorder) [SNOMED CT concept]
- Treacher-Collins syndrome [ICD-11 More detail]
- Treacher-Collins syndrome [ORDO Disease]
- Treacher-Collins' syndrome [MedDRA LLT]
- franceschetti-klein syndrome [SNOMED Notion]
- mandibulofacial dysostosis [Disease (Nov.)]
- mandibulofacial dysostosis [MeSH Descriptor]
- mandibulofacial dysostosis [MeSH concept]
- treacher collins syndrome [SNOMED Notion]
DO Cross reference
- Treacher Collins syndrome [DO Concept]
False automatic mappings
- Turks and Caicos Islands [NCIt concept]
- United Arab Emirates [NCIt concept]
- script concordance test [CISMeF resources Type]
Genes related to phenotype
- Treacle ribosome biogenesis factor 1 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal parotid gland morphology [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral microphthalmos [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft soft palate [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Downslanted palpebral fissures [HPO term]
- Hypoplasia of the pharynx [HPO term]
- Intellectual disability [HPO term]
- Lacrimal duct stenosis [HPO term]
- Lower eyelid coloboma [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Narrow mouth [HPO term]
- Partial-total absence of lower eyelashes [HPO term]
- Preauricular hair displacement [HPO term]
- Preauricular skin tag [HPO term]
- Ptosis [HPO term]
- Sparse lower eyelashes [HPO term]
- Strabismus [HPO term]
- Upper eyelid coloboma [HPO term]
- Visual loss [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Treacher-Collins syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Franceschetti's syndrome [MedDRA LLT]
- Mandibulofacial dysostosis [ICD-10 Sub-category (who)]
- Mandibulofacial dysostosis [ORDO Disease]
- Mandibulofacial dysostosis [MedDRA Preferred Term]
- Mandibulofacial dysostosis [ICD-10 Sub-category]
- Mandibulofacial dysostosis [HPO term]
- Mandibulofacial dysostosis [PASCAL descriptor]
- Treacher Collins Syndrome [NCIt concept]
- Treacher Collins syndrome [DO Concept]
- Treacher Collins syndrome [PASCAL descriptor]
- Treacher Collins syndrome (disorder) [SNOMED CT concept]
- Treacher-Collins syndrome [ORDO Disease]
- Treacher-Collins' syndrome [MedDRA LLT]
- mandibulofacial dysostosis [MeSH Descriptor]
- mandibulofacial dysostosis [MeSH concept]
- mandibulofacial dysostosis [Disease (Nov.)]
- treacher collins syndrome [SNOMED Notion]

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