MCID: TRC073
MIFTS: 18

Treacher Collins Syndrome 2

Categories: Genetic diseases, Rare diseases, Fetal diseases, Bone diseases, Ear diseases, Eye diseases

Aliases & Classifications for Treacher Collins Syndrome 2

MalaCards integrated aliases for Treacher Collins Syndrome 2:

Name: Treacher Collins Syndrome 2 53 71 28 13 69
Tcs2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
four patients from two unrelated consanguineous families with homozygous mutations have been reported


HPO:

31
treacher collins syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 613717
MedGen 39 C3150983
MeSH 41 D008342
UMLS 69 C3150983

Summaries for Treacher Collins Syndrome 2

OMIM : 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.

Related Diseases for Treacher Collins Syndrome 2

Diseases in the Treacher Collins Syndrome 1 family:

Treacher Collins Syndrome 3 Treacher Collins Syndrome 2

Symptoms & Phenotypes for Treacher Collins Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
zygomatic complex hypoplasia
mandibular hypoplasia

Head And Neck Eyes:
downslanting palpebral fissures
coloboma, lower eyelid

Head And Neck Mouth:
cleft palate

Head And Neck Ears:
microtia
hearing loss, conductive

Head And Neck Nose:
choanal stenosis
choanal atresia

Neurologic Central Nervous System:
motor development delayed (in some patients)
speech development delayed (in some patients)


Clinical features from OMIM:

613717

Human phenotypes related to Treacher Collins Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 micrognathia 31 HP:0000347
3 downslanted palpebral fissures 31 HP:0000494
4 choanal atresia 31 HP:0000453
5 choanal stenosis 31 HP:0000452

Drugs & Therapeutics for Treacher Collins Syndrome 2

Search Clinical Trials , NIH Clinical Center for Treacher Collins Syndrome 2

Genetic Tests for Treacher Collins Syndrome 2

Genetic tests related to Treacher Collins Syndrome 2:

# Genetic test Affiliating Genes
1 Treacher Collins Syndrome 2 28 POLR1D

Anatomical Context for Treacher Collins Syndrome 2

MalaCards organs/tissues related to Treacher Collins Syndrome 2:

38
Bone

Publications for Treacher Collins Syndrome 2

Variations for Treacher Collins Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Treacher Collins Syndrome 2:

71
# Symbol AA change Variation ID SNP ID
1 POLR1D p.Glu47Lys VAR_064892 rs767196650
2 POLR1D p.Thr50Ile VAR_064893
3 POLR1D p.Leu51Arg VAR_064894
4 POLR1D p.Gly52Glu VAR_064895
5 POLR1D p.Arg56Cys VAR_064896 rs1014369151Treacher
6 POLR1D p.Leu82Ser VAR_064897
7 POLR1D p.Gly99Ser VAR_064898

ClinVar genetic disease variations for Treacher Collins Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLR1D POLR1D, ARG87TER single nucleotide variant Pathogenic
2 POLR1D POLR1D, GLU47LYS single nucleotide variant Pathogenic
3 POLR1D POLR1D, LEU51ARG single nucleotide variant Pathogenic
4 POLR1D POLR1D, 2-BP DEL, 326CA deletion Pathogenic
5 POLR1D POLR1D, 2-BP DUP, 263G duplication Pathogenic
6 POLR1D POLR1D, 2-BP INS, 88TG insertion Pathogenic
7 POLR1D NM_015972.3(POLR1D): c.163C> G (p.Leu55Val) single nucleotide variant Pathogenic rs587777841 GRCh37 Chromosome 13, 28197148: 28197148

Expression for Treacher Collins Syndrome 2

Search GEO for disease gene expression data for Treacher Collins Syndrome 2.

Pathways for Treacher Collins Syndrome 2

GO Terms for Treacher Collins Syndrome 2

Sources for Treacher Collins Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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