Treacher collins syndrome 2

Preferred Label : Treacher collins syndrome 2;

Symbol : TCS2;

CISMeF acronym : TCS2;

Type : Phenotype, molecular basis known;

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 dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the polymerase I, RNA, subunit D gene (POLR1D, 613715.0001);

Prefixed ID : #613717;

Details

Origin ID

613717;

UMLS CUI

C3150983;

Automatic exact mappings (from CISMeF team)
- POLR1D wt Allele [NCIt concept]
DO Cross reference
- Treacher Collins syndrome [DO Concept]
Genes related to phenotype
- Polymerase I, rna, subunit D [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choanal atresia [HPO term]
- Choanal stenosis [HPO term]
- Cleft palate [HPO term]
- Coloboma [HPO term]
- Conductive hearing impairment [HPO term]
- Downslanted palpebral fissures [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]
Validated automatic mappings to NTBT
- Treacher Collins syndrome [DO Concept]
- Treacher-Collins syndrome [ORDO Disease]

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