TCS4
MCID: TRC126
MIFTS: 20

Treacher Collins Syndrome 4 (TCS4)

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

Aliases & Classifications for Treacher Collins Syndrome 4

MalaCards integrated aliases for Treacher Collins Syndrome 4:

Name: Treacher Collins Syndrome 4 57 12 73 6
Treacher-Collins Syndrome 4 57 73
Tcs4 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
intubation or tracheostoma in neonatal period
nasogastric or gastrostomy tube feedings in neonatal period


HPO:

31
treacher collins syndrome 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080792
OMIM® 57 618939
OMIM Phenotypic Series 57 PS154500
MeSH 44 D008342

Summaries for Treacher Collins Syndrome 4

UniProtKB/Swiss-Prot : 73 Treacher Collins syndrome 4: 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. TCS4 inheritance pattern is autosomal dominant.

MalaCards based summary : Treacher Collins Syndrome 4, is also known as treacher-collins syndrome 4. An important gene associated with Treacher Collins Syndrome 4 is POLR1B (RNA Polymerase I Subunit B). Related phenotypes are microcephaly and feeding difficulties in infancy

Disease Ontology : 12 A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has material basis in heterozygous mutation in the POLR1B gene on chromosome 2q14.

OMIM® : 57 Treacher Collins syndrome-4 (TCS4) is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia. Most patients have conductive deafness with atretic external ear canals. Choanal atresia and cleft palate have also been observed (Sanchez et al., 2020). (618939) (Updated 05-Mar-2021)

Related Diseases for Treacher Collins Syndrome 4

Diseases in the Treacher Collins Syndrome 1 family:

Treacher Collins Syndrome 3 Treacher Collins Syndrome 2
Treacher Collins Syndrome 4

Symptoms & Phenotypes for Treacher Collins Syndrome 4

Human phenotypes related to Treacher Collins Syndrome 4:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 feeding difficulties in infancy 31 very rare (1%) HP:0008872
3 cleft palate 31 very rare (1%) HP:0000175
4 micrognathia 31 very rare (1%) HP:0000347
5 downslanted palpebral fissures 31 very rare (1%) HP:0000494
6 conductive hearing impairment 31 very rare (1%) HP:0000405
7 facial asymmetry 31 very rare (1%) HP:0000324
8 malar flattening 31 very rare (1%) HP:0000272
9 respiratory failure requiring assisted ventilation 31 very rare (1%) HP:0004887
10 lower eyelid coloboma 31 very rare (1%) HP:0000652
11 choanal stenosis 31 very rare (1%) HP:0000452
12 preauricular hair displacement 31 very rare (1%) HP:0009554

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Ears:
microtia
conductive deafness, bilateral
atresia of external ear canal, unilateral or bilateral

Head And Neck Face:
facial asymmetry
mandibular hypoplasia
malar hypoplasia
projection of scalp hair onto lateral cheek (uncommon)

Head And Neck Eyes:
downslanting palpebral fissures
coloboma of lower lid

Head And Neck Mouth:
cleft palate

Head And Neck Nose:
choanal atresia
choanal stenosis

Clinical features from OMIM®:

618939 (Updated 05-Mar-2021)

Drugs & Therapeutics for Treacher Collins Syndrome 4

Search Clinical Trials , NIH Clinical Center for Treacher Collins Syndrome 4

Genetic Tests for Treacher Collins Syndrome 4

Anatomical Context for Treacher Collins Syndrome 4

Publications for Treacher Collins Syndrome 4

Articles related to Treacher Collins Syndrome 4:

# Title Authors PMID Year
1
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. 6 57 61
31649276 2020
2
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 57
25790162 2016
3
Population-specific quantitative trait loci mapping for functional stay-green trait in rice (Oryza sativa L.). 61
21423286 2011

Variations for Treacher Collins Syndrome 4

ClinVar genetic disease variations for Treacher Collins Syndrome 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLR1B NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg) SNV Pathogenic 932311 2:113326451-113326451 2:112568874-112568874
2 POLR1B NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys) SNV Pathogenic 932312 2:113332905-113332905 2:112575328-112575328
3 POLR1B NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser) SNV Pathogenic 932313 2:113332905-113332905 2:112575328-112575328

Expression for Treacher Collins Syndrome 4

Search GEO for disease gene expression data for Treacher Collins Syndrome 4.

Pathways for Treacher Collins Syndrome 4

GO Terms for Treacher Collins Syndrome 4

Sources for Treacher Collins Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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