Treacher collins syndrome 3

Preferred Label : Treacher collins syndrome 3;

Symbol : TCS3;

CISMeF acronym : TCS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mandibulofacial dysostosis, treacher collins type, autosomal recessive;

Description : Treacher Collins syndrome is a disorder of craniofacial development 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 (Dauwerse et al., 2011). For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (154500).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polymerase I, RNA, subunit C gene (POLR1C, 610060.0001);

Prefixed ID : #248390;

Détails

Origin ID

248390;

UMLS CUI

C1855433;

Automatic exact mappings (from CISMeF team)
- O-sialoglycoprotein endopeptidase [ORDO Gene]
- O-sialoglycoprotein endopeptidase [HGNC gene]
Currated CISMeF NLP mapping
- Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive [MeSH concept]
- mandibulofacial dysostosis, treacher collins type, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- Treacher Collins syndrome [DO Concept]
Genes related to phenotype
- Polymerase I, rna, subunit C [OMIM gene]
HPO term(s)
- Abnormality of the outer ear [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Coloboma [HPO term]
- Conductive hearing impairment [HPO term]
- Downslanted palpebral fissures [HPO term]
- Lower eyelid coloboma [HPO term]
- Malar flattening [HPO term]
- Mandibulofacial dysostosis [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
ORDO concept(s)
- Treacher-Collins syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive [MeSH concept]
- mandibulofacial dysostosis, treacher collins type, autosomal recessive [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Treacher Collins syndrome [DO Concept]

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