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MCID: TRC073
MIFTS: 18
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Treacher Collins Syndrome 2
Categories:
Genetic diseases, Rare diseases, Fetal diseases, Bone diseases, Ear diseases, Eye diseases
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MalaCards integrated aliases for Treacher Collins Syndrome 2:Characteristics:OMIM:53
Inheritance:
autosomal dominant autosomal recessive
Miscellaneous:
four patients from two unrelated consanguineous families with homozygous mutations have been reported HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Ear diseases Eye diseases |
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OMIM
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53
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). (613717)
MalaCards based summary : Treacher Collins Syndrome 2, is also known as tcs2, and has symptoms including cleft palate, micrognathia and downslanted palpebral fissures. An important gene associated with Treacher Collins Syndrome 2 is POLR1D (RNA Polymerase I Subunit D). Affiliated tissues include bone. UniProtKB/Swiss-Prot : 71 Treacher Collins syndrome 2: 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. |
Diseases in the Treacher Collins Syndrome 1 family:
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Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:613717Human phenotypes related to Treacher Collins Syndrome 2:31
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MalaCards organs/tissues related to Treacher Collins Syndrome 2:38
Bone
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Genes related to Treacher Collins Syndrome 2 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Treacher Collins Syndrome 2:71
ClinVar genetic disease variations for Treacher Collins Syndrome 2:6
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Search
GEO
for disease gene expression data for Treacher Collins Syndrome 2.
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