Treacher Collins Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

TCS1 MCID: TRC072 MIFTS: 66	Treacher Collins Syndrome 1 (TCS1) Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Treacher Collins Syndrome 1

MalaCards integrated aliases for Treacher Collins Syndrome 1:

Name: Treacher Collins Syndrome 1 ⁵⁶ ⁷³ ²⁹ ¹³ ⁶

Treacher Collins Syndrome ⁵⁶ ¹² ⁷⁴ ²⁴ ⁵² ²⁵ ⁷³ ³⁶ ²⁹ ⁵⁴ ⁶ ¹⁵ ³⁹

Mandibulofacial Dysostosis ⁵⁶ ¹² ²⁴ ⁵² ²⁵ ⁵⁸ ⁷³ ⁴³ ³²

Treacher Collins-Franceschetti Syndrome ⁵⁶ ²⁴ ⁵² ²⁵ ⁷³

Tcof ⁵⁶ ⁵² ⁷³

Mfd1 ⁵⁶ ⁵² ⁷³

Tcs ⁵⁶ ⁵² ⁷³

Franceschetti-Klein Syndrome ⁵⁸ ⁷¹

Tcs1 ⁵⁶ ⁷³

Mandibulofacial Dysostosis Without Limb Anomalies ⁵⁸

Bilateral and Symmetric Oto-Mandibular Dysplasia ⁵⁸

Treacher Collins-Franceschetti Syndrome; Tcof ⁵⁶

Franceschetti-Zwahlen-Klein Syndrome ²⁵

Treacher Collins Syndrome, Type 1 ³⁹

Mandibulofacial Dysostosis; Mfd1 ⁵⁶

Treacher Collins Syndrome; Tcs ⁵⁶

Zygoauromandibular Dysplasia ²⁵

Treacher-Collins Syndrome ⁵⁸

Franceschetti Syndrome ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

treacher-collins syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

treacher collins syndrome 1:
Inheritance autosomal dominant inheritance

GeneReviews:

²⁴

Penetrance While the penetrance of pathogenic variants associated with tcs is high, reduced penetrance in tcof1 has also been reported [dixon et al 2004, vincent et al 2016] and polr1d [dauwerse et al 2011, vincent et al 2016].

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Ear diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of skull and face bones

Mandibulofacial dysostosis

Orphanet: ⁵⁸

Rare eye diseases

Rare otorhinolaryngological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:2908

OMIM ⁵⁶ 154500

OMIM Phenotypic Series ⁵⁶ PS154500

KEGG ³⁶ H00610

MeSH ⁴³ D008342

NCIt ⁴⁹ C75018

SNOMED-CT ⁶⁷ 82203000

ICD10 ³² Q75.4

MESH via Orphanet ⁴⁴ D008342

ICD10 via Orphanet ³³ Q75.4

UMLS via Orphanet ⁷² C0242387 C0265241

Orphanet ⁵⁸ ORPHA155899 ORPHA861

MedGen ⁴¹ C0242387 CN119605

SNOMED-CT via HPO ⁶⁸ 105985007 11934000 128306009 more

UMLS ⁷¹ C0242387 C0265241

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Summaries for Treacher Collins Syndrome 1

Genetics Home Reference : ²⁵ 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. People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence.

MalaCards based summary : Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis 1, nager type and acrofacial dysostosis, cincinnati type. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacle Ribosome Biogenesis Factor 1), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and RNA polymerase. The drugs Levobupivacaine and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are skeletal dysplasia and open bite

NIH Rare Diseases : ⁵² Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia ). Other features may include cleft palate , eye abnormalities, and hearing loss . TCS may be caused by mutations in the TCOF1 , POLR1C , or POLR1D genes . When the TCOF1 or POLR1D gene is responsible, it is inherited in an autosomal dominant manner. However, about 60% of autosomal dominant cases are due to a new mutation in the gene and are not inherited from a parent. When the POLR1C gene is responsible, it is inherited in an autosomal recessive manner. In some cases, the genetic cause of the condition is unknown.

OMIM : ⁵⁶ Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). (154500)

KEGG : ³⁶ Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes, respectively. Autosomal recessive TCS3 is caused by mutations in the POLR1C gene. The majority of TCS cases are caused by a mutation in TCOF1 gene which encodes a putative nucleolar phosphoprotein known as treacle. It has suggested that treacle is involved in the production of ribosomal RNA within cells. POLR1C and POLR1D encode subunits present in RNA polymerase I and III. Both of these polymerases are involved in ribosomal RNA transcription.

UniProtKB/Swiss-Prot : ⁷³ Treacher Collins syndrome 1: 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.

Wikipedia : ⁷⁴ Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes,... more...

GeneReviews: NBK1532

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Related Diseases for Treacher Collins Syndrome 1

Diseases in the Treacher Collins Syndrome 1 family:

Treacher Collins Syndrome 3

Treacher Collins Syndrome 2

Diseases related to Treacher Collins Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 819)

#	Related Disease	Score	Top Affiliating Genes
1	acrofacial dysostosis 1, nager type	34.1	SF3B4 POLR1D EFTUD2
2	acrofacial dysostosis, cincinnati type	33.3	WDR43 POLR1D POLR1C POLR1A KBTBD8
3	postaxial acrofacial dysostosis	32.1	TCOF1 SF3B4 POLR1D EFTUD2
4	cleft palate, isolated	31.7	WDR43 TCOF1 SF3B4 POLR1D POLR1C NOL11
5	coloboma of macula	31.6	TCOF1 POLR1D EFTUD2 CFAP47
6	mandibulofacial dysostosis, guion-almeida type	31.6	SF3B4 POLR1D EFTUD2
7	hemifacial microsomia	31.5	TCOF1 POLR1D EFTUD2
8	choanal atresia, posterior	31.3	EFTUD2 CFAP47
9	dysostosis	31.2	TCOF1 SF3B4 POLR1A EFTUD2 CFAP47
10	acrofacial dysostosis	30.8	SF3B4 POLR1D POLR1A EFTUD2 CFAP47
11	macrocytic anemia	30.7	RPS19 RPS14 RPL5 RPL35A RPL11
12	orofacial cleft	30.6	TCOF1 RPS19 RPL5 RPL35A RPL11 POLR1D
13	diamond-blackfan anemia	29.9	UTP4 TCOF1 SBDS RPS19 RPS14 RPL5
14	mandibulofacial dysostosis with alopecia	13.0
15	diamond-blackfan anemia 14 with mandibulofacial dysostosis	12.8
16	split-foot deformity with mandibulofacial dysostosis	12.7
17	mandibulofacial dysostosis with macroblepharon and macrostomia	12.6
18	branchial arch syndrome, x-linked	12.5
19	mandibulofacial dysostosis syndrome, bauru type	12.5
20	mandibulofacial dysostosis with ptosis, autosomal dominant	12.5
21	mandibulofacial dysostosis with mental retardation	12.4
22	transcobalamin ii deficiency	12.0
23	oculoauricular syndrome	11.9
24	acrofacial dysostosis, catania type	11.9
25	acrofacial dysostosis syndrome of rodriguez	11.8
26	microtia-anotia	11.5
27	burn-mckeown syndrome	11.5
28	imperforate oropharynx-costo vetebral anomalies	11.4
29	transcobalamin deficiency	11.4
30	uv-sensitive syndrome	11.3
31	tethered spinal cord syndrome	11.3
32	treacher collins syndrome 3	11.2
33	treacher collins syndrome 2	11.2
34	uv-sensitive syndrome 1	11.2
35	cerebrooculofacioskeletal syndrome 4	11.2
36	uv-sensitive syndrome 2	11.2
37	uv-sensitive syndrome 3	11.2
38	microscopic polyangiitis	11.2
39	microtia	10.8
40	sleep apnea	10.7
41	dextrocardia	10.6
42	polyhydramnios	10.5
43	pierre robin syndrome	10.5
44	hyperparathyroidism	10.5
45	weyers acrofacial dysostosis	10.5
46	hypomandibular faciocranial dysostosis	10.5
47	acrofacial dysostosis, palagonia type	10.5
48	acrodysostosis	10.5
49	acrodysostosis with multiple hormone resistance	10.5
50	acrofacial dysostosis, kennedy-teebi type	10.5

Graphical network of the top 20 diseases related to Treacher Collins Syndrome 1:

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Symptoms & Phenotypes for Treacher Collins Syndrome 1

Human phenotypes related to Treacher Collins Syndrome 1:

⁵⁸ ³¹ (show top 50) (show all 76)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	skeletal dysplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002652
2	open bite ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010807
3	retrognathia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000278
4	micrognathia ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000347
5	hypoplasia of the maxilla ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000327
6	downslanted palpebral fissures ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000494
7	abnormality of bone mineral density ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004348
8	hypoplasia of the zygomatic bone ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010669
9	malar flattening ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000272
10	midface retrusion ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011800
11	short face ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011219
12	wide nasal bridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000431
13	microtia ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0008551
14	visual impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000505
15	frontal bossing ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002007
16	strabismus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000486
17	conductive hearing impairment ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000405
18	iris coloboma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000612
19	reduced number of teeth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009804
20	low anterior hairline ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000294
21	narrow internal auditory canal ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011386
22	absent eyelashes ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000561
23	eyelid coloboma ³¹	frequent (33%)		HP:0000625
24	cataract ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000518
25	global developmental delay ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001263
26	hypertelorism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000316
27	failure to thrive ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001508
28	dysphasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002357
29	brachycephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000248
30	cleft palate ⁵⁸ ³¹	very rare (1%)	Occasional (29-5%)	HP:0000175
31	narrow mouth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000160
32	tracheoesophageal fistula ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002575
33	cryptorchidism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000028
34	high palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000218
35	respiratory insufficiency ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002093
36	wide mouth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000154
37	cleft upper lip ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000204
38	choanal atresia ⁵⁸ ³¹	very rare (1%)	Occasional (29-5%)	HP:0000453
39	microphthalmia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000568
40	patent ductus arteriosus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001643
41	preauricular skin tag ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000384
42	abnormality of the adrenal glands ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000834
43	abnormality of dental enamel ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000682
44	hypoplasia of the thymus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000778
45	abnormality of dental morphology ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006482
46	hypoplasia of penis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008736
47	abnormality of the vertebral column ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000925
48	glossoptosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000162
49	blepharospasm ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000643
50	rectovaginal fistula ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000143

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
lower eyelid coloboma
downslanting palpebral fissures
partial absence of lower eyelashes

Head And Neck Mouth:
macrostomia
mandibular hypoplasia
cleft palate (rare)
palatopharyngeal incompetence

Head And Neck Ears:
hearing loss, conductive
malformation of auricle
ear tags
blind fistulas

Head And Neck Face:
malar hypoplasia
projection of scalp hair onto the lateral cheek

Clinical features from OMIM:

154500

GenomeRNAi Phenotypes related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

²⁶ (show all 35)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	10.25	RPL5
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-109	10.25	RPL5 SF3B4
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-127	10.25	NDST1 SF3B4
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	10.25	SF3B4
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-153	10.25	EFTUD2 RPL5 RPS14 SF3B4
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-165	10.25	RPL5
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-174	10.25	EFTUD2 RPL5 RPS14
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-178	10.25	EFTUD2 SF3B4
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-189	10.25	RPL5
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-198	10.25	SF3B4
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-203	10.25	NDST1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-21	10.25	RPL5
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-211	10.25	EFTUD2 RPS14 SF3B4
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-213	10.25	EFTUD2 RPL5 RPS14
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-216	10.25	NDST1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	10.25	RPS14
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-26	10.25	EFTUD2 RPL5 RPS14
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-39	10.25	RPL5
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	10.25	NDST1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	10.25	NDST1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	10.25	EFTUD2 SF3B4
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-84	10.25	SF3B4
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-91	10.25	RPL5 RPS14
24	Decreased shRNA abundance (Z-score < -2)	GR00366-A-115	9.87	POLR1C
25	Decreased shRNA abundance (Z-score < -2)	GR00366-A-116	9.87	POLR1C RPS14
26	Decreased shRNA abundance (Z-score < -2)	GR00366-A-122	9.87	POLR1C
27	Decreased shRNA abundance (Z-score < -2)	GR00366-A-139	9.87	POLR1C
28	Decreased shRNA abundance (Z-score < -2)	GR00366-A-198	9.87	POLR1C
29	Decreased shRNA abundance (Z-score < -2)	GR00366-A-56	9.87	POLR1C
30	Decreased cell number	GR00303-A	9.67	EFTUD2 RPL11 RPL5 RPS19
31	FOXO1 nuclear localization	GR00247-A-1	9.63	EFTUD2 NDST1 RPL11 WDR43
32	FOXO1 nuclear localization	GR00247-A-2	9.63	EFTUD2 RPL11
33	Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)	GR00196-A-1	9.56	POLR1A
34	Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)	GR00196-A-2	9.56	POLR1A RPL35A WDR43
35	Nuclear 60S biogenesis defects	GR00209-A-3	8.92	RPL11 RPL35A RPL5 WDR43

MGI Mouse Phenotypes related to Treacher Collins Syndrome 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	embryo	MP:0005380	9.23	EFTUD2 NDST1 POLR1A POLR1D RPS19 SBDS

Sources

Drugs & Therapeutics for Treacher Collins Syndrome 1

Drugs for Treacher Collins Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Levobupivacaine

Approved, Investigational

27262-47-1

92253

Synonyms:

(-)-bupivacaine

(-)-Bupivacaine

(2S)-1-butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide

(S)-1-butyl-2',6'-pipecoloxylidide

(S)-1-Butyl-2',6'-pipecoloxylidide

(S)-bupivacaine

(S)-Bupivacaine

27262-47-1

27262-48-2

AC1L3NQM

BIDD:GT0471

C07887

C18H28N2O

CAS-18010-40-7

CHEBI:6149

Chirocaine

CID92253

D08116

DB01002

L-(-)-1-Butyl-2',6'-pipecoloxylidide

L-(-)-bupivacaine

L-(−)-bupivacaine

L(-)-Bupivacaine

L-(-)-Bupivacaine

Levobupivacaína

Levobupivacaine

Levobupivacaine (INN)

Levobupivacaine [INN:BAN]

Levobupivacaine hydrochloride

LS-109843

LS-187025

LS-187789

MolPort-004-959-713

NCGC00016733-01

NCGC00159482-02

Novabupi

Novabupi (TN)

Ropivacaine

Approved

84057-95-4

71273 175805

Synonyms:

(-)-1-Propyl-2',6'-dimethyl-2-piperidylcarboxyanilide

(-)-1-Propyl-2',6'-pipecoloxylidide

(2S)-N-(2,6-dimethylphenyl)-1-propylpiperidine-2-carboxamide

(2S)-N-(2,6-dimethylphenyl)-1-propylpiperidine-2-carboxamide hydrochloride

(S)-(−)-1-propyl-2',6'-pipecoloxylidide

(S)-(-)-1-Propyl-2',6'-pipecoloxylidide

(S)-ropivacaine

1-Propyl-2',6'-pipecoloxylidide

84057-95-4

98717-15-8

AC1L41QM

AC1L41QN

BIDD:GT0203

C07532

C17H26N2O.HCl

CHEBI:8890

CHEMBL1077896

CID175804

CID175805

CPD000469137

D08490

I14-176

LEA 103

LEA-103

L-N-N-Propylpipecolate-2,6-xylidide

L-N-n-propylpipecolic acid-2,6-xylidide

L-N-N-Propylpipecolic acid-2,6-xylidide

LS-113954

MLS001401363

MolPort-003-983-292

Naropeine

Naropin

Naropin (TN)

NCGC00164597-01

Ropivacaina

Ropivacaina [INN-Spanish]

Ropivacaina [Spanish]

Ropivacaine

Ropivacaine [INN]

ROPIVACAINE HCl

Ropivacaine hydrochloride

Ropivacaine monohydrochloride

ropivacaine monohydrochloride,

ropivacaine monohydrochloride, (S)-isomer

Ropivacaine monohydrochloride, (S)-isomer

Ropivacainum

Ropivacainum [INN-Latin]

SAM001246524

SMR000469137

S-Ropivacaine

ST51051452

Immunoglobulins

Antibodies

Antibodies, Monoclonal

Analgesics

Interventional clinical trials:

#	Name	Status	NCT ID	Drugs
1	Suitable Method for Routine Diagnostics of EER in Children With Otitis Media With Effusion	Completed	NCT02183974
2	Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences	Completed	NCT00340964
3	Comparison of Three Methods Used in the Diagnosis of Extraesophageal Reflux in Children With Chronic Otitis Media With Effusion	Completed	NCT02183961
4	Evaluation of Postoperative Analgesic Effects of Infraorbital Nerve Block by Levobupivacaine vs Ropivacaine After Cleft Palate Surgery: A Double-blinded Randomized Trial	Recruiting	NCT04212611	INFRA ORBITAL BLOCK
5	Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry	Not yet recruiting	NCT03540329

Search NIH Clinical Center for Treacher Collins Syndrome 1

Cochrane evidence based reviews: mandibulofacial dysostosis

Sources

Genetic Tests for Treacher Collins Syndrome 1

Genetic tests related to Treacher Collins Syndrome 1:

#	Genetic test	Affiliating Genes
1	Treacher Collins Syndrome 1 ²⁹	TCOF1
2	Treacher Collins Syndrome ²⁹

Sources

Anatomical Context for Treacher Collins Syndrome 1

MalaCards organs/tissues related to Treacher Collins Syndrome 1:

⁴⁰

Bone, Eye, Heart, Thymus, Thyroid, Adrenal Gland, Skin

Sources

Publications for Treacher Collins Syndrome 1

Articles related to Treacher Collins Syndrome 1:

(show top 50) (show all 687)

#	Title	Authors	PMID	Year
1	High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. ⁶ ⁵⁶ ⁵⁴ ²⁴ ⁶¹	Splendore A...Passos-Bueno MR	11013442	2000
2	TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. ⁶¹ ⁶ ⁵⁶ ²⁴ ⁵⁴	Wise CA...Jabs EW	9096354	1997
3	The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. ⁶ ⁵⁶ ²⁴ ⁶¹	Edwards SJ...Dixon MJ	9042910	1997
4	Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene. ⁶ ⁵⁶ ⁶¹ ⁵⁴	Li C...Bourgeois J	19050407	2009
5	Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. ⁶¹ ⁵⁶ ⁵⁴ ⁶	Horiuchi K...Sugihara T	15214011	2004
6	The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. ⁵⁶ ⁶ ⁶¹	Caluseriu O...Innes AM	24108658	2013
7	Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. ⁵⁴ ²⁴ ⁶¹ ⁵⁶	Teber OA...Wieczorek D	15340364	2004
8	Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. ⁶ ²⁴ ⁶¹ ⁵⁴	Shoo BA...Jabs EW	15039977	2004
9	Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. ⁶¹ ⁵⁶ ²⁴	Calo E...Wysocka J	29364875	2018
10	Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. ²⁴ ⁵⁶ ⁶¹	Vincent M...Collet C	25790162	2016
11	Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. ⁶¹ ⁶ ²⁴	Schaefer E...Doray B	24603435	2014
12	Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. ⁶ ²⁴ ⁶¹	Dauwerse JG...Wieczorek D	21131976	2011
13	Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. ²⁴ ⁶¹ ⁶		8563749	1996
14	Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait. ⁵⁶ ⁶	Lowry RB...Stauffer GF	4061487	1985
15	Mandibulo-facial dysostosis. (Treacher-Collins syndrome). ²⁴ ⁵⁶ ⁶¹	Fazen LE...Nadler HL	6024864	1967
16	Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. ²⁴ ⁵⁶	Bowman M...Lester T	22317976	2012
17	Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse. ⁵⁴ ⁶¹ ⁵⁶	Richter CA...Tucker AS	20106873	2010
18	Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. ⁶ ⁶¹ ⁵⁴	Marszalek B...Trzeciak WH	14598341	2003
19	Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. ²⁴ ⁶	Splendore A...Passos-Bueno MR	12114482	2002
20	Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. ⁵⁶ ⁵⁴ ⁶¹	Jones NC...Newgreen DF	10545604	1999
21	Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. ⁵⁶ ⁵⁴ ⁶¹	Dixon MJ...Landes GM	8488840	1993
22	Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. ⁵⁴ ⁵⁶ ⁶¹	Dixon MJ...Landes GM	1303194	1992
23	A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. ⁵⁴ ⁶¹ ²⁴	Macaya D...Cutting GR	19572402	2009
24	Treacher Collins syndrome: etiology, pathogenesis and prevention. ⁵⁴ ⁶¹ ²⁴	Trainor PA...Dixon MJ	19107148	2009
25	The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. ⁶¹ ⁵⁴ ²⁴	Gonzales B...Valdez BC	15930015	2005
26	Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. ⁵⁴ ⁶¹ ²⁴	Horiuchi K...Sakiyama Y	15759264	2005
27	Delayed-onset infantile cataracts in a case of Treacher Collins syndrome. ⁵⁶ ⁶¹	Biebesheimer JB...Fredrick DR	15534141	2004
28	Treacher Collins Syndrome ⁶¹ ⁶	Katsanis SH...Jabs EW	20301704	2004
29	Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. ⁶¹ ⁵⁴ ²⁴	Dixon J...Dixon MJ	15150774	2004
30	Parental origin of mutations in sporadic cases of Treacher Collins syndrome. ⁵⁶ ⁶¹	Splendore A...Passos-Bueno MR	12939661	2003
31	Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. ²⁴ ⁶¹ ⁵⁴	Hayano T...Takahashi N	12777385	2003
32	Mutation testing in Treacher Collins Syndrome. ⁶¹ ⁵⁴ ²⁴	Ellis PE...Dixon MJ	12444270	2002
33	Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. ⁵⁴ ⁶¹ ²⁴	Isaac C...Meier UT	10982400	2000
34	Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. ⁶¹ ⁵⁴ ²⁴	Dixon J...Dixon MJ	10888597	2000
35	Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. ⁵⁶ ⁶¹	Marsh KL...Dixon MJ	9736782	1998
36	Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. ⁵⁴ ²⁴ ⁶¹	Gladwin AJ...Dixon MJ	8894686	1996
37	Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. ⁵⁶ ⁶¹	Edwards SJ...Dixon MJ	8818950	1996
38	Treacher Collins syndrome. ⁵⁶ ⁶¹	Dixon MJ	8875242	1996
39	Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas. ⁵⁶ ⁶¹	Hansen M...Mulliken JB	8741923	1996
40	Mild mandibulofacial dysostosis in a child with a deletion of 3p. ⁶¹ ⁵⁶	Arn PH...Jabs EW	8322816	1993
41	Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. ⁵⁶ ⁶¹	Jabs EW...Weber JL	1765376	1991
42	Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. ⁵⁶ ⁶¹	Jabs EW...Rosenbaum KN	1684950	1991
43	The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. ⁵⁶ ⁶¹	Dixon MJ...Williamson R	1676560	1991
44	Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. ⁵⁶ ⁶¹	Dixon MJ...Callen D	1671319	1991
45	Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. ⁵⁶ ⁶¹	Sulik KK...Jarvis BE	3474899	1987
46	Older paternal age and fresh gene mutation: data on additional disorders. ⁵⁶ ⁶¹	Jones KL...Quan L	1110452	1975
47	THE TREACHER-COLLINS SYNDROME. ⁶¹ ⁵⁶	FERNANDEZ AO...RONIS ML	14216013	1964
48	Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. ⁶¹ ²⁴	Giabicani E...Dubern B	28927774	2017
49	The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome. ⁶¹ ²⁴	Noack Watt KE...Trainor PA	27448281	2016
50	Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. ²⁴ ⁶¹	Vincent M...Genevieve D	23695276	2014

Sources

Genes for Treacher Collins Syndrome 1

Genes related to Treacher Collins Syndrome 1 (3 elite genes):

(show all 48)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TCOF1	Treacle Ribosome Biogenesis Factor 1	Protein Coding	1691.15	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Variants (show sections)	15039977 15214011 14598341 (more) 11013442 9096354 12114482 19050407 9042910 8563749 24108658 4061487 20301704 11013442 12777385 20340163 15214011 15150774 14598341 8276417 20003452 8488840 8281138 9299440 19572402 10982400 17431905 15039977 12444270 8681136 19527688 19067896 16125876 9096354 18236814 18246078 16801042 15340364 14531285 15930015 11471057 10888597 8894686 19107148 16102917 17497718 20106873 10545604 1303194 15759264 16981466 19050407
2	POLR1D	RNA Polymerase I And III Subunit D	Protein Coding	358.87	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
3	POLR1C	RNA Polymerase I And III Subunit C	Protein Coding	356.53	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
4	NDST1	N-Deacetylase And N-Sulfotransferase 1	Protein Coding	14.35	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	8838814
5	CFAP47	Cilia And Flagella Associated Protein 47	Protein Coding	11.96	DISEASES inferred ¹⁵ ¹⁵ ¹⁵
6	EFTUD2	Elongation Factor Tu GTP Binding Domain Containing 2	Protein Coding	7.82	DISEASES inferred ¹⁵
7	NOLC1	Nucleolar And Coiled-Body Phosphoprotein 1	Protein Coding	7.38	DISEASES inferred ¹⁵
8	RPS14	Ribosomal Protein S14	Protein Coding	7.24	DISEASES inferred ¹⁵
9	POLR1A	RNA Polymerase I Subunit A	Protein Coding	7.24	DISEASES inferred ¹⁵
10	SF3B4	Splicing Factor 3b Subunit 4	Protein Coding	7.22	DISEASES inferred ¹⁵
11	RPL11	Ribosomal Protein L11	Protein Coding	7.19	DISEASES inferred ¹⁵
12	RPS19	Ribosomal Protein S19	Protein Coding	7.18	DISEASES inferred ¹⁵
13	RPL5	Ribosomal Protein L5	Protein Coding	7.13	DISEASES inferred ¹⁵
14	UTP4	UTP4 Small Subunit Processome Component	Protein Coding	7.07	DISEASES inferred ¹⁵
15	NOL11	Nucleolar Protein 11	Protein Coding	7.04	DISEASES inferred ¹⁵
16	POLI	DNA Polymerase Iota	Protein Coding	6.87	DISEASES inferred ¹⁵
17	KBTBD8	Kelch Repeat And BTB Domain Containing 8	Protein Coding	6.85	DISEASES inferred ¹⁵
18	SBDS	SBDS Ribosome Maturation Factor	Protein Coding	6.66	DISEASES inferred ¹⁵
19	WDR43	WD Repeat Domain 43	Protein Coding	6.65	DISEASES inferred ¹⁵
20	RPL35A	Ribosomal Protein L35a	Protein Coding	6.64	DISEASES inferred ¹⁵
21	TXNL4A	Thioredoxin Like 4A	Protein Coding	6.44	DISEASES inferred ¹⁵
22	RPS17	Ribosomal Protein S17	Protein Coding	6.43	DISEASES inferred ¹⁵
23	RPS24	Ribosomal Protein S24	Protein Coding	6.41	DISEASES inferred ¹⁵
24	RPL26	Ribosomal Protein L26	Protein Coding	6.41	DISEASES inferred ¹⁵
25	RPS10	Ribosomal Protein S10	Protein Coding	6.4	DISEASES inferred ¹⁵
26	ALX3	ALX Homeobox 3	Protein Coding	6.36	DISEASES inferred ¹⁵
27	POLR3B	RNA Polymerase III Subunit B	Protein Coding	6.36	DISEASES inferred ¹⁵
28	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	6.35	DISEASES inferred ¹⁵
29	NOP56	NOP56 Ribonucleoprotein	Protein Coding	6.34	DISEASES inferred ¹⁵
30	RPL38	Ribosomal Protein L38	Protein Coding	6.31	DISEASES inferred ¹⁵
31	TP53	Tumor Protein P53	Protein Coding	6.25	DISEASES inferred ¹⁵
32	RPS20	Ribosomal Protein S20	Protein Coding	6.24	DISEASES inferred ¹⁵
33	UBTF	Upstream Binding Transcription Factor	Protein Coding	6.09	DISEASES inferred ¹⁵
34	MDM2	MDM2 Proto-Oncogene	Protein Coding	6.03	DISEASES inferred ¹⁵
35	RPS15	Ribosomal Protein S15	Protein Coding	6.02	DISEASES inferred ¹⁵
36	ESCO2	Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2	Protein Coding	6.01	DISEASES inferred ¹⁵
37	DDX56	DEAD-Box Helicase 56	Protein Coding	6	DISEASES inferred ¹⁵
38	RPS26	Ribosomal Protein S26	Protein Coding	5.97	DISEASES inferred ¹⁵
39	POLR3A	RNA Polymerase III Subunit A	Protein Coding	5.96	DISEASES inferred ¹⁵
40	SOX10	SRY-Box Transcription Factor 10	Protein Coding	5.91	DISEASES inferred ¹⁵
41	CHD7	Chromodomain Helicase DNA Binding Protein 7	Protein Coding	5.88	DISEASES inferred ¹⁵
42	EMG1	EMG1 N1-Specific Pseudouridine Methyltransferase	Protein Coding	5.86	DISEASES inferred ¹⁵
43	EIF6	Eukaryotic Translation Initiation Factor 6	Protein Coding	5.83	DISEASES inferred ¹⁵
44	ESCO1	Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 1	Protein Coding	5.77	DISEASES inferred ¹⁵
45	MSX1	Msh Homeobox 1	Protein Coding	5.76	DISEASES inferred ¹⁵
46	TSR2	TSR2 Ribosome Maturation Factor	Protein Coding	5.76	DISEASES inferred ¹⁵
47	FOXD3	Forkhead Box D3	Protein Coding	5.74	DISEASES inferred ¹⁵
48	FBL	Fibrillarin	Protein Coding	5.73	DISEASES inferred ¹⁵

Sources

Variations for Treacher Collins Syndrome 1

ClinVar genetic disease variations for Treacher Collins Syndrome 1:

⁶ (show top 50) (show all 139) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TCOF1	NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs)	duplication	Pathogenic	419066	rs1554080460	5:149776031-149776032	5:150396468-150396469
2	TCOF1	NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs)	duplication	Pathogenic	436967	rs587776585	5:149777931-149777932	5:150398368-150398369
3	TCOF1	NM_000356.4(TCOF1):c.4126_4129del (p.Glu1376fs)	deletion	Pathogenic	452460	rs1554081112	5:149777928-149777931	5:150398365-150398368
4	TCOF1	NM_000356.4(TCOF1):c.1915_1916del (p.Lys639fs)	deletion	Pathogenic	477615	rs1554137419	5:149755988-149755989	5:150376425-150376426
5	TCOF1	NM_000356.4(TCOF1):c.4175_4176del (p.Asp1391_Ser1392insTer)	deletion	Pathogenic	477619	rs1554081168	5:149777979-149777980	5:150398416-150398417
6	TCOF1	NM_000356.4(TCOF1):c.2052_2053CT[1] (p.Asp684_Ser685insTer)	short repeat	Pathogenic	477616	rs1554137531	5:149756126-149756127	5:150376563-150376564
7	TCOF1	NM_000356.4(TCOF1):c.2565_2566del (p.Gly856fs)	deletion	Pathogenic	477617	rs1554138819	5:149759232-149759233	5:150379669-150379670
8	TCOF1	NC_000005.10:g.(?_150387882)_(150399068_?)del	deletion	Pathogenic	543946		5:149767445-149778631	5:150387882-150399068
9	TCOF1	NM_000356.4(TCOF1):c.1127dup (p.Ala377fs)	duplication	Pathogenic	543943	rs1554136123	5:149754592-149754593	5:150375029-150375030
10	TCOF1	NM_000356.4(TCOF1):c.2564C>G (p.Ser855Ter)	SNV	Pathogenic	543942	rs1554138811	5:149759231-149759231	5:150379668-150379668
11	TCOF1	NM_000356.4(TCOF1):c.2902dup (p.Glu968fs)	duplication	Pathogenic	543941	rs1554078461	5:149769534-149769535	5:150389971-150389972
12	TCOF1	NM_000356.4(TCOF1):c.1146_1147del (p.Gly383fs)	deletion	Pathogenic	575668	rs1562347303	5:149754615-149754616	5:150375052-150375053
13	TCOF1	NM_000356.4(TCOF1):c.3987dup (p.Ser1330fs)	duplication	Pathogenic	575776	rs1561540623	5:149776277-149776278	5:150396714-150396715
14	TCOF1	NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs)	duplication	Pathogenic	645291		5:149754972-149754973	5:150375409-150375410
15	TCOF1	NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer)	deletion	Pathogenic	644583		5:149758480-149758480	5:150378917-150378917
16	TCOF1	NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs)	deletion	Pathogenic	653704		5:149772956-149772956	5:150393393-150393393
17	TCOF1	NM_000356.4(TCOF1):c.3557_3558del (p.Lys1186fs)	deletion	Pathogenic	658412		5:149775849-149775850	5:150396286-150396287
18	TCOF1	NM_000356.4(TCOF1):c.4130_4134del (p.Lys1377fs)	deletion	Pathogenic	660987		5:149777932-149777936	5:150398369-150398373
19	TCOF1	NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter)	SNV	Pathogenic	694633		5:149771574-149771574	5:150392011-150392011
20	TCOF1	NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer)	deletion	Pathogenic	841345		5:149769493-149769493	5:150389930-150389930
21	TCOF1	NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs)	duplication	Pathogenic	836618		5:149771713-149771714	5:150392150-150392151
22	TCOF1	NM_001371623.1(TCOF1):c.3784+1G>C	SNV	Pathogenic	845924		5:149773116-149773116	5:150393553-150393553
23	TCOF1	NM_000356.4(TCOF1):c.754C>T (p.Gln252Ter)	SNV	Pathogenic	3960	rs119470016	5:149753851-149753851	5:150374288-150374288
24	TCOF1	NM_000356.4(TCOF1):c.422dup (p.His141fs)	duplication	Pathogenic	3961	rs587776580	5:149748321-149748322	5:150368758-150368759
25	TCOF1	NM_000356.4(TCOF1):c.497_500del (p.Asn166fs)	deletion	Pathogenic	3962	rs587776581	5:149748397-149748400	5:150368834-150368837
26	TCOF1	NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs)	short repeat	Pathogenic	3963	rs587776582	5:149777936-149777940	5:150398373-150398377
27	TCOF1	NM_000356.4(TCOF1):c.149A>G (p.Tyr50Cys)	SNV	Pathogenic	3964	rs28941769	5:149740759-149740759	5:150361196-150361196
28	TCOF1	NM_000356.4(TCOF1):c.1404_1405AG[2] (p.Ser470fs)	short repeat	Pathogenic	3965	rs587776583	5:149755048-149755049	5:150375485-150375486
29	TCOF1	NM_000356.4(TCOF1):c.2731C>T (p.Arg911Ter)	SNV	Pathogenic	3966	rs119470017	5:149767567-149767567	5:150388004-150388004
30	TCOF1	NM_000356.4(TCOF1):c.376_378+15del	deletion	Pathogenic	3967	rs587776584	5:149747475-149747492	5:150367912-150367929
31	TCOF1	NM_000356.4(TCOF1):c.4134del (p.Glu1379fs)	deletion	Pathogenic	3968	rs587776585	5:149777932-149777932	5:150398369-150398369
32	TCOF1	NM_000356.4(TCOF1):c.2876dup (p.Ser959fs)	duplication	Pathogenic	127081	rs587777314	5:149769509-149769510	5:150389946-150389947
33	TCOF1	NM_000356.4(TCOF1):c.1404_1405AG[1] (p.Glu469fs)	short repeat	Pathogenic	127080	rs587776583	5:149755048-149755051	5:150375485-150375488
34	TCOF1	NM_001371623.1(TCOF1):c.633_634del (p.Val212fs)	deletion	Pathogenic	802168		5:149749159-149749160	5:150369596-150369597
35	TCOF1	NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs)	deletion	Pathogenic	802169		5:149776123-149776123	5:150396560-150396560
36	TCOF1	NM_000356.4(TCOF1):c.1047+1G>A	SNV	Pathogenic	280270	rs886041506	5:149754375-149754375	5:150374812-150374812
37	TCOF1	NM_000356.4(TCOF1):c.386_387del (p.Thr129fs)	deletion	Pathogenic	212384	rs797046037	5:149748285-149748286	5:150368722-150368723
38	TCOF1	NM_000356.4(TCOF1):c.50A>G (p.His17Arg)	SNV	Pathogenic/Likely pathogenic	381618	rs1057521108	5:149737359-149737359	5:150357796-150357796
39	TCOF1	NM_000356.4(TCOF1):c.4124_4125del (p.Lys1375fs)	deletion	Pathogenic/Likely pathogenic	503704	rs1554081108	5:149777928-149777929	5:150398365-150398366
40	TCOF1	NM_000356.4(TCOF1):c.640-1946C>T	SNV	Pathogenic/Likely pathogenic	452929	rs748805008	5:149751791-149751791	5:150372228-150372228
41	TCOF1	NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs)	deletion	Pathogenic/Likely pathogenic	420429	rs1064794474	5:149754683-149754686	5:150375120-150375123
42	TCOF1	NM_000356.4(TCOF1):c.1474G>A (p.Glu492Lys)	SNV	Likely pathogenic	433551	rs764314276	5:149755284-149755284	5:150375721-150375721
43	TCOF1	NC_000005.10:g.(?_150396282)_(150399070_?)del	deletion	Likely pathogenic	477614			5:150396282-150399070
44	TCOF1	NC_000005.10:g.(?_150399002)_(150399068_?)del	deletion	Likely pathogenic	584260		5:149778565-149778631	5:150399002-150399068
45	TCOF1	NM_000356.4(TCOF1):c.378+1G>A	SNV	Likely pathogenic	639625		5:149747481-149747481	5:150367918-150367918
46	TCOF1	NM_000356.4(TCOF1):c.2739G>A (p.Ser913=)	SNV	Conflicting interpretations of pathogenicity	352222	rs370130791	5:149767575-149767575	5:150388012-150388012
47	TCOF1	NM_000356.4(TCOF1):c.2535G>A (p.Ser845=)	SNV	Conflicting interpretations of pathogenicity	352218	rs369562565	5:149759202-149759202	5:150379639-150379639
48	TCOF1	NM_000356.4(TCOF1):c.4184C>T (p.Pro1395Leu)	SNV	Conflicting interpretations of pathogenicity	598625	rs148367422	5:149777989-149777989	5:150398426-150398426
49	TCOF1	NM_000356.4(TCOF1):c.640-1981_640-1964del	deletion	Conflicting interpretations of pathogenicity	431981	rs528897827	5:149751746-149751763	5:150372183-150372200
50	TCOF1	NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp)	SNV	Uncertain significance	644290		5:149743698-149743698	5:150364135-150364135

UniProtKB/Swiss-Prot genetic disease variations for Treacher Collins Syndrome 1:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	TCOF1	p.Trp53Arg	VAR_005630

Copy number variations for Treacher Collins Syndrome 1 from CNVD:

⁷

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	195281	5	149717427	149760064	Microdeletions	TCOF1	Treacher Collins syndrome

Sources

Expression for Treacher Collins Syndrome 1

Search GEO for disease gene expression data for Treacher Collins Syndrome 1.

Sources

Pathways for Treacher Collins Syndrome 1

Pathways related to Treacher Collins Syndrome 1 according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Ribosome biogenesis in eukaryotes	hsa03008
2	RNA polymerase	hsa03020

Pathways related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	12.87	WDR43 UTP4 SF3B4 RPS19 RPS14 RPL5
2	Influenza Viral RNA Transcription and Replication ⁶⁵ Show member pathways Influenza Infection ⁶⁵ Influenza Life Cycle ⁶⁵ vRNP Assembly ⁶⁵	12.41	RPS19 RPS14 RPL5 RPL35A RPL11
3	rRNA processing in the nucleus and cytosol ⁶⁵ Show member pathways Major pathway of rRNA processing in the nucleolus and cytosol ⁶⁵ rRNA modification in the nucleus and cytosol ⁶⁵ rRNA processing ⁶⁵	12.36	WDR43 UTP4 RPS19 RPS14 RPL5 RPL35A
4	Ribosome biogenesis in eukaryotes ³⁶	11.67	WDR43 UTP4 TCOF1 SBDS
5	RNA Polymerase I Promoter Escape ⁶⁵ Show member pathways RNA Polymerase I Transcription Initiation ⁶⁵ RNA Polymerase I Transcription Termination ⁶⁵	11.65	POLR1D POLR1C POLR1A
6	ATP/ITP metabolism ²²	11.51	POLR1D POLR1C POLR1A
7	Inhibition of Ribosome Biogenesis by p14(ARF) ⁶³	10.78	POLR1D POLR1C POLR1A
8	Assembly of RNA Polymerase-I Initiation Complex ⁶³	10.33	POLR1D POLR1C POLR1A

Sources

GO Terms for Treacher Collins Syndrome 1

Cellular components related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.28	WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
2	nucleoplasm	GO:0005654	9.86	WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
3	fibrillar center	GO:0001650	9.67	WDR43 UTP4 TCOF1 NOLC1
4	ribosome	GO:0005840	9.65	RPS19 RPS14 RPL5 RPL35A RPL11
5	cytosolic large ribosomal subunit	GO:0022625	9.61	RPL5 RPL35A RPL11
6	RNA polymerase III complex	GO:0005666	9.46	POLR1D POLR1C
7	nucleolus	GO:0005730	9.4	WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
8	RNA polymerase I complex	GO:0005736	9.33	POLR1D POLR1C POLR1A
9	t-UTP complex	GO:0034455	9.32	UTP4 NOL11

Biological processes related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

(show all 24)

#	Name	GO ID	Score	Top Affiliating Genes
1	translation	GO:0006412	9.96	RPS19 RPS14 RPL5 RPL35A RPL11
2	regulation of translation	GO:0006417	9.88	TCOF1 RPS14 NOLC1 KBTBD8
3	translational initiation	GO:0006413	9.8	RPS19 RPS14 RPL5 RPL35A RPL11
4	transcription, DNA-templated	GO:0006351	9.79	POLR1D POLR1C POLR1A
5	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	GO:0000184	9.77	RPS19 RPS14 RPL5 RPL35A RPL11
6	ribosome biogenesis	GO:0042254	9.76	WDR43 UTP4 SBDS NOL11
7	transcription initiation from RNA polymerase I promoter	GO:0006361	9.72	POLR1D POLR1C POLR1A
8	positive regulation of gene expression, epigenetic	GO:0045815	9.71	POLR1D POLR1C POLR1A
9	ribosomal large subunit biogenesis	GO:0042273	9.7	RPL5 RPL35A RPL11
10	termination of RNA polymerase I transcription	GO:0006363	9.69	POLR1D POLR1C POLR1A
11	transcription elongation from RNA polymerase I promoter	GO:0006362	9.67	POLR1D POLR1C POLR1A
12	maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	GO:0000462	9.65	UTP4 RPS19 RPS14
13	viral transcription	GO:0019083	9.65	RPS19 RPS14 RPL5 RPL35A RPL11
14	ribosomal large subunit assembly	GO:0000027	9.62	RPL5 RPL11
15	negative regulation of ubiquitin-dependent protein catabolic process	GO:2000059	9.61	RPL5 RPL11
16	neural crest cell development	GO:0014032	9.61	TCOF1 NOLC1 KBTBD8
17	ribosomal small subunit assembly	GO:0000028	9.6	RPS19 RPS14
18	negative regulation of ubiquitin protein ligase activity	GO:1904667	9.59	RPL5 RPL11
19	nucleolus organization	GO:0007000	9.58	RPS19 NOLC1
20	negative regulation of protein neddylation	GO:2000435	9.57	RPL5 RPL11
21	SRP-dependent cotranslational protein targeting to membrane	GO:0006614	9.55	RPS19 RPS14 RPL5 RPL35A RPL11
22	neural crest formation	GO:0014029	9.5	TCOF1 NOLC1 KBTBD8
23	rRNA processing	GO:0006364	9.32	WDR43 UTP4 SBDS RPS19 RPS14 RPL5
24	maturation of SSU-rRNA	GO:0030490	9.26	UTP4 RPS19 RPS14 NOL11

Molecular functions related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.96	WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
2	structural constituent of ribosome	GO:0003735	9.55	RPS19 RPS14 RPL5 RPL35A RPL11
3	rRNA binding	GO:0019843	9.54	SBDS RPL5 RPL11
4	DNA-directed 5'-3' RNA polymerase activity	GO:0003899	9.5	POLR1D POLR1C POLR1A
5	mRNA 5'-UTR binding	GO:0048027	9.48	RPS14 RPL5
6	5S rRNA binding	GO:0008097	9.46	RPL5 RPL11
7	RNA binding	GO:0003723	9.44	WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
8	RNA polymerase I core binding	GO:0001042	9.43	TCOF1 NOLC1
9	ubiquitin ligase inhibitor activity	GO:1990948	9.4	RPL5 RPL11
10	RNA polymerase I activity	GO:0001054	9.26	POLR1C POLR1A

Sources

Sources for Treacher Collins Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Treacher Collins Syndrome 1 (TCS1)

Aliases & Classifications for Treacher Collins Syndrome 1

MalaCards integrated aliases for Treacher Collins Syndrome 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Treacher Collins Syndrome 1

Related Diseases for Treacher Collins Syndrome 1

Diseases in the Treacher Collins Syndrome 1 family:

Diseases related to Treacher Collins Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Treacher Collins Syndrome 1:

Symptoms & Phenotypes for Treacher Collins Syndrome 1

Human phenotypes related to Treacher Collins Syndrome 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Treacher Collins Syndrome 1:

Drugs & Therapeutics for Treacher Collins Syndrome 1

Drugs for Treacher Collins Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: mandibulofacial dysostosis

Genetic Tests for Treacher Collins Syndrome 1

Genetic tests related to Treacher Collins Syndrome 1:

Anatomical Context for Treacher Collins Syndrome 1

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Genes for Treacher Collins Syndrome 1

Genes related to Treacher Collins Syndrome 1 (3 elite genes):

Variations for Treacher Collins Syndrome 1

ClinVar genetic disease variations for Treacher Collins Syndrome 1:

UniProtKB/Swiss-Prot genetic disease variations for Treacher Collins Syndrome 1:

Copy number variations for Treacher Collins Syndrome 1 from CNVD:

Expression for Treacher Collins Syndrome 1

Pathways for Treacher Collins Syndrome 1

Pathways related to Treacher Collins Syndrome 1 according to KEGG:

Pathways related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

GO Terms for Treacher Collins Syndrome 1

Cellular components related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

Biological processes related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

Molecular functions related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

Sources for Treacher Collins Syndrome 1