TCS3
MCID: TRC071
MIFTS: 47

Treacher Collins Syndrome 3 (TCS3) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Summaries for Treacher Collins Syndrome 3

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22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.

MalaCards: Treacher Collins Syndrome 3, also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive, is related to treacher collins syndrome and dysostosis, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, anomalies of spine, vertebrae and pelvis and hair and scalp anomalies. An important gene associated with Treacher Collins Syndrome 3 is POLR1C (polymerase (RNA) I polypeptide C, 30kDa), and among its related pathways are TNF-alpha/NF-kB Signaling Pathway and Purine metabolism. The compounds Uridine triphosphate and Cytidine triphosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and adrenal gland.

Description from OMIM:48 248390,613717,154500

Aliases & Classifications for Treacher Collins Syndrome 3

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Sources:
44NIH Rare Diseases, 48OMIM, 23GTR, 63UMLS, 50Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
franceschetti-klein syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

treacher collins syndrome 3 44 48
mandibulofacial dysostosis, treacher collins type, autosomal recessive 44 23 63
franceschetti-klein syndrome 50 63
mandibulofacial dysostosis without limb anomalies 50
treacher-collins syndrome 50
tcs3 44


External Ids:

ICD10 via Orphanet27 Q75.4
SNOMED-CT via Orphanet60 82203000, 62767009
UMLS via Orphanet64 C0242387, C0265241

Related Diseases for Treacher Collins Syndrome 3

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18GeneCards, 19GeneDecks
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Diseases in the Treacher Collins Syndrome 3 family:

Treacher Collins Syndrome Familial Treacher Collins Syndrome
Tcof1-Related Treacher Collins Syndrome Polr1c-Related Treacher Collins Syndrome
Polr1d-Related Treacher Collins Syndrome Treacher Collins Syndrome 1
Treacher Collins Syndrome 2

Diseases related to Treacher Collins Syndrome 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1treacher collins syndrome11.5
2dysostosis11.0
3laryngitis10.8
4choanal atresia10.6
5sleep apnea10.6
6familial treacher collins syndrome10.6
7polr1c-related treacher collins syndrome10.6
8obstructive sleep apnea10.6
9treacher collins syndrome 210.6
10polr1d-related treacher collins syndrome10.5
11goldenhar syndrome10.4
12microtia10.4
13tcof1-related treacher collins syndrome10.3
14neurofibromatosis10.3
15angelman syndrome10.3
16diamond-blackfan anemia10.3
17pharyngitis10.3
18microcephaly10.3
19polyhydramnios10.3
20syndactyly10.3
21achalasia10.3
22otosclerosis10.3
23down syndrome10.3
24cataract10.3
25cervicitis10.3
26cholesteatoma10.3
27craniosynostosis10.3
28dermatomyositis10.3
29esophagitis10.3
30intellectual disability10.3
31retinal detachment10.3
32retinitis10.3
33schizophrenia10.3
34speech disorder10.3
35craniofacial microsomia10.3
36oculo-auriculo-vertebral spectrum10.3
37palatopharyngeal incompetence10.3
38pectus carinatum10.3
39mental retardation10.3
40lateral facial dysplasia10.3
41aneurysm10.3
42penile agenesis10.3
43treacher collins syndrome 110.1

Graphical network of the top 20 diseases related to Treacher Collins Syndrome 3:



Diseases related to treacher collins syndrome 3

Symptoms for Treacher Collins Syndrome 3

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

248390

Clinical features from OMIM:

248390,613717,154500

Symptoms:

50 (show all 64)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • anomalies of spine, vertebrae and pelvis
  • hair and scalp anomalies
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • preauricular/branchial tags/appendages
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • enamel anomaly
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • tooth shape anomaly
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • high vaulted/narrow palate
  • glossoptosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • patent ductus arteriosus
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • autosomal recessive inheritance
  • enchondroses
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • dystonia/torticollis/writer's cramp/blepharospasms
  • encephalocele/exencephaly
  • adrenal glands anomalies
  • ectopic/agenesis/dysgenesis/hypoplastic thyroid
  • hypoplastic scrotum/hemiscrotum/scrotal ridges
  • micropenis/small penis/agenesis
  • thymic aplasia/hypoplasia
  • cleft lip
  • macrostomia/big mouth
  • visual loss/blindness/amblyopia
  • low hair line-front
  • frontal bossing/prominent forehead
  • autosomal dominant inheritance
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • bone/osseous hypoplasia
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • dental malocclusion
  • hypoplastic mandibula/partial absence of the mandibula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • flat cheek bones/malar hypoplasia
  • mid-facial hypoplasia/short/small midface
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • small face
  • strabismus/squint
  • anomalies of eyelids, eyelashes and lacrimal system
  • coloboma of the eyelid
  • choanal atresia
  • cataract/lens opacification
  • coloboma of iris
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • facial cleft
  • limited opening of the mouth
  • hypertelorism
  • brachycephaly/flat occiput
  • conductive deafness/hearing loss
  • external auditory canal atresia/stenosis/agenesis
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • anodontia/oligodontia/hypodontia
  • anomalies of teeth and dentition
  • broad nasal root
  • absent/decreased lashes
  • facial dysmorphism

Drugs & Therapeutics for Treacher Collins Syndrome 3

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Treacher Collins Syndrome 3

Drug clinical trials:

Search ClinicalTrials for Treacher Collins Syndrome 3

Search NIH Clinical Center for Treacher Collins Syndrome 3

Search CenterWatch for Treacher Collins Syndrome 3

Genetic Tests for Treacher Collins Syndrome 3

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23GTR
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Genetic tests related to Treacher Collins Syndrome 3:

id Genetic test Affiliating Genes
1 Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive23

Anatomical Context for Treacher Collins Syndrome 3

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34MalaCards
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MalaCards organs/tissues related to Treacher Collins Syndrome 3:

34
Bone, Testes, Adrenal gland, Thyroid, Lung, Eye

Animal Models for Treacher Collins Syndrome 3 or affiliated genes

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Publications for Treacher Collins Syndrome 3

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Variations for Treacher Collins Syndrome 3

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Treacher Collins Syndrome 3:

65
id Symbol AA change Variation ID SNP ID
1POLR1Cp.Arg279GlnVAR_064899rs191582628
2POLR1Cp.Arg279TrpVAR_064900

Clinvar genetic disease variations for Treacher Collins Syndrome 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1POLR1CNM_203290.2(POLR1C): c.836G> A (p.Arg279Gln)single nucleotide variantPathogenicrs191582628GRCh37Chr 6, 43488700: 43488700
2POLR1CPOLR1C, IVS8, 4-BP DEL, +3deletionPathogenic
3POLR1CNM_203290.2(POLR1C): c.979A> T (p.Lys327Ter)single nucleotide variantPathogenicrs387907020GRCh37Chr 6, 43488976: 43488976
4POLR1CPOLR1C, 1-BP DEL, 87TdeletionPathogenic
5POLR1CNM_203290.2(POLR1C): c.835C> T (p.Arg279Trp)single nucleotide variantPathogenicrs141156009GRCh37Chr 6, 43488699: 43488699

Expression for genes affiliated with Treacher Collins Syndrome 3

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Treacher Collins Syndrome 3

Search GEO for disease gene expression data for Treacher Collins Syndrome 3.

Pathways for genes affiliated with Treacher Collins Syndrome 3

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 31KEGG, 54QIAGEN
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Pathways related to Treacher Collins Syndrome 3 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Alternative NF-kappaB pathway39
9.3POLR1D, POLR1C
2
Show member pathways
UTP and CTP dephosphorylation II39
ATP ITP metabolism61
purine deoxyribonucleosides salvage39
9.3POLR1C, POLR1D
3
Show member pathways
9.3POLR1C, POLR1D
49.3POLR1C, POLR1D
5
Show member pathways
9.3POLR1C, POLR1D
6
Show member pathways
9.3POLR1C, POLR1D
7
Show member pathways
9.3POLR1C, POLR1D

Compounds for genes affiliated with Treacher Collins Syndrome 3

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Sources:
25HMDB, 46Novoseek, 12DrugBank
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Compounds related to Treacher Collins Syndrome 3 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Uridine triphosphate259.5POLR1C, POLR1D
2Cytidine triphosphate259.4POLR1C, POLR1D
3phosphoric acid46 2510.3POLR1D, POLR1C
4Adenosine triphosphate25 1210.3POLR1C, POLR1D
5pyrophosphate46 2510.2POLR1C, POLR1D
6rrna469.1TCOF1, POLR1C
7Guanosine triphosphate259.0POLR1C, POLR1D

GO Terms for genes affiliated with Treacher Collins Syndrome 3

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17Gene Ontology
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Cellular components related to Treacher Collins Syndrome 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-directed RNA polymerase III complexGO:0056669.3POLR1C, POLR1D
2DNA-directed RNA polymerase I complexGO:0057369.0POLR1C, POLR1D

Biological processes related to Treacher Collins Syndrome 3 according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase III promoterGO:0063859.6POLR1C, POLR1D
2termination of RNA polymerase III transcriptionGO:0063869.5POLR1C, POLR1D
3transcription elongation from RNA polymerase I promoterGO:0063629.5POLR1D, POLR1C
4termination of RNA polymerase I transcriptionGO:0063639.5POLR1C, POLR1D
5transcription initiation from RNA polymerase I promoterGO:0063619.4POLR1C, POLR1D
6transcription from RNA polymerase I promoterGO:0063609.4POLR1D, POLR1C
7transcription from RNA polymerase III promoterGO:0063839.3POLR1C, POLR1D
8gene expressionGO:0104679.3POLR1C, POLR1D
9positive regulation of type I interferon productionGO:0324819.2POLR1C, POLR1D
10innate immune responseGO:0450879.0POLR1C, POLR1D

Molecular functions related to Treacher Collins Syndrome 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:0469839.3POLR1C, POLR1D
2RNA polymerase I activityGO:0010549.2POLR1C, POLR1D
3RNA polymerase III activityGO:0010569.0POLR1C, POLR1D

Products for genes affiliated with Treacher Collins Syndrome 3

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  • Antibodies
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  • Antibodies

Sources for Treacher Collins Syndrome 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet