Treacher Collins Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Aliases & Classifications for Treacher Collins Syndrome 2

Sources:
¹²diseasecard, ²⁷GTR, ³⁷MedGen, ³⁹MeSH, ⁵²OMIM, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁷⁰UniProtKB/Swiss-Prot
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Aliases & Descriptions for Treacher Collins Syndrome 2:

Name: Treacher Collins Syndrome 2 ⁵² ⁷⁰ ²⁷ ¹² ⁶⁸

Tcs2 ⁷⁰

Characteristics:

HPO:

⁶⁴

treacher collins syndrome 2:
Inheritance: autosomal dominant inheritance

Classifications:

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

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External Ids:

OMIM⁵² 613717

MedGen³⁷ C3150983

MeSH³⁹ D008342

Summaries for Treacher Collins Syndrome 2

Sources:
³⁶MalaCards, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
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OMIM:⁵² Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral... (613717) more...

MalaCards based summary: Treacher Collins Syndrome 2, also known as TCS2, is related to polr1d-related treacher collins syndrome and treacher collins syndrome 1, and has symptoms including cleft palate, micrognathia and choanal stenosis. An important gene associated with Treacher Collins Syndrome 2 is POLR1D (RNA Polymerase I Subunit D). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:⁷⁰ 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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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Diseases in the Treacher Collins Syndrome 1 family:

Treacher Collins Syndrome 3	treacher collins syndrome 2
Polr1c-Related Treacher Collins Syndrome	Polr1d-Related Treacher Collins Syndrome
Tcof1-Related Treacher Collins Syndrome

Diseases related to Treacher Collins Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	polr1d-related treacher collins syndrome	11.2
2	treacher collins syndrome 1	10.9

Symptoms & Phenotypes for Treacher Collins Syndrome 2

Sources:
⁵²OMIM, ⁶⁴The Human Phenotype Ontology
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Symptoms by clinical synopsis from OMIM:

613717

Clinical features from OMIM:

613717

Human phenotypes related to Treacher Collins Syndrome 2:

⁶⁴

id	Description	HPO Source Accession
1	cleft palate⁶⁴	HP:0000175
2	micrognathia⁶⁴	HP:0000347
3	choanal stenosis⁶⁴	HP:0000452
4	choanal atresia⁶⁴	HP:0000453
5	downslanted palpebral fissures⁶⁴	HP:0000494

Drugs & Therapeutics for Treacher Collins Syndrome 2

Sources:
⁴ClinicalTrials
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Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells	Completed	NCT01674439	Phase 2
2	Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences	Completed	NCT00340964
3	Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)	Recruiting	NCT02224677
4	Natural History of Craniofacial Anomalies and Developmental Growth Variants	Recruiting	NCT02639312

Search NIH Clinical Center for Treacher Collins Syndrome 2

Genetic Tests for Treacher Collins Syndrome 2

Sources:
²⁷GTR
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Genetic tests related to Treacher Collins Syndrome 2:

id	Genetic test	Affiliating Genes
1	Treacher Collins Syndrome 2²⁷

Anatomical Context for Treacher Collins Syndrome 2

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Treacher Collins Syndrome 2:

³⁶

Bone

Publications for Treacher Collins Syndrome 2

Genes related to Treacher Collins Syndrome 2

Sources:
⁵Clinvar, ²¹GeneCards, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
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Genes related to Treacher Collins Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	POLR1D	RNA Polymerase I Subunit D	1230.35	Molecular basis known ⁵² Pathogenic ⁵ Causative variation ⁷⁰ GeneCards inferred via : Disorders, Variants (show sections)	21131976, 20301704, 24603435

Variations for Treacher Collins Syndrome 2

Sources:
⁵Clinvar, ⁹dbSNP, ⁷⁰UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Treacher Collins Syndrome 2:

⁷⁰

id	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
6	POLR1D	p.Leu82Ser	VAR_064897
7	POLR1D	p.Gly99Ser	VAR_064898

Clinvar genetic disease variations for Treacher Collins Syndrome 2:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	POLR1D	NM_ 015972.3(POLR1D): c.163C> G (p.Leu55Val)	SNV	Pathogenic	rs587777841	GRCh37	Chr 13, 28197148: 28197148
2	POLR1D	POLR1D, ARG87TER	SNV	Pathogenic
3	POLR1D	POLR1D, GLU47LYS	SNV	Pathogenic
4	POLR1D	POLR1D, LEU51ARG	SNV	Pathogenic
5	POLR1D	POLR1D, 2-BP DEL, 326CA	deletion	Pathogenic
6	POLR1D	POLR1D, 2-BP DUP, 263G	duplication	Pathogenic
7	POLR1D	POLR1D, 2-BP INS, 88TG	insertion	Pathogenic