MCID: TCF001
MIFTS: 8

Tcof1-Related Treacher Collins Syndrome

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

Aliases & Classifications for Tcof1-Related Treacher Collins Syndrome

MalaCards integrated aliases for Tcof1-Related Treacher Collins Syndrome:

Name: Tcof1-Related Treacher Collins Syndrome 24
Treacher Collins Syndrome 1 24
Tcs1 24

Classifications:



Summaries for Tcof1-Related Treacher Collins Syndrome

MalaCards based summary : Tcof1-Related Treacher Collins Syndrome, also known as treacher collins syndrome 1, is related to treacher collins syndrome 1. An important gene associated with Tcof1-Related Treacher Collins Syndrome is TCOF1 (Treacle Ribosome Biogenesis Factor 1).

Related Diseases for Tcof1-Related Treacher Collins Syndrome

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 Tcof1-Related Treacher Collins Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 treacher collins syndrome 1 12.4

Symptoms & Phenotypes for Tcof1-Related Treacher Collins Syndrome

Drugs & Therapeutics for Tcof1-Related Treacher Collins Syndrome

Search Clinical Trials , NIH Clinical Center for Tcof1-Related Treacher Collins Syndrome

Genetic Tests for Tcof1-Related Treacher Collins Syndrome

Genetic tests related to Tcof1-Related Treacher Collins Syndrome:

id Genetic test Affiliating Genes
1 Tcof1-Related Treacher Collins Syndrome 24 TCOF1

Anatomical Context for Tcof1-Related Treacher Collins Syndrome

Publications for Tcof1-Related Treacher Collins Syndrome

Variations for Tcof1-Related Treacher Collins Syndrome

ClinVar genetic disease variations for Tcof1-Related Treacher Collins Syndrome:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 TCOF1 NM_000356.3(TCOF1): c.754C> T (p.Gln252Ter) single nucleotide variant Pathogenic rs119470016 GRCh37 Chromosome 5, 149753851: 149753851
2 TCOF1 NM_000356.3(TCOF1): c.422dupA (p.His141Glnfs) duplication Pathogenic rs587776580 GRCh38 Chromosome 5, 150368759: 150368759
3 TCOF1 NM_000356.3(TCOF1): c.497_500delATAC (p.Asn166Ilefs) deletion Pathogenic rs587776581 GRCh38 Chromosome 5, 150368834: 150368837
4 TCOF1 NM_000356.3(TCOF1): c.4138_4142delAAGAA (p.Lys1380Glufs) deletion Pathogenic rs587776582 GRCh38 Chromosome 5, 150398380: 150398384
5 TCOF1 NM_000356.3(TCOF1): c.149A> G (p.Tyr50Cys) single nucleotide variant Pathogenic rs28941769 GRCh37 Chromosome 5, 149740759: 149740759
6 TCOF1 NM_000356.3(TCOF1): c.1408_1409delAG (p.Ser470Glnfs) deletion Pathogenic rs587776583 GRCh38 Chromosome 5, 150375489: 150375490
7 TCOF1 NM_000356.3(TCOF1): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs119470017 GRCh37 Chromosome 5, 149767567: 149767567
8 TCOF1 NM_000356.3(TCOF1): c.376_378+15del18 deletion Pathogenic rs587776584 GRCh38 Chromosome 5, 150367915: 150367932
9 TCOF1 NM_000356.3(TCOF1): c.4134delA (p.Glu1379Lysfs) deletion Pathogenic rs587776585 GRCh38 Chromosome 5, 150398376: 150398376
10 TCOF1 NM_000356.3(TCOF1): c.1406_1409delAGAG (p.Glu469Alafs) deletion Pathogenic rs587777313 GRCh38 Chromosome 5, 150375487: 150375490
11 TCOF1 NM_000356.3(TCOF1): c.2876dupG (p.Ser959Argfs) duplication Pathogenic rs587777314 GRCh38 Chromosome 5, 150389947: 150389947
12 TCOF1 NM_000356.3(TCOF1): c.386_387delCA (p.Thr129Argfs) deletion Pathogenic rs797046037 GRCh38 Chromosome 5, 150368723: 150368724
13 TCOF1 NM_001135243.1(TCOF1): c.4365dup (p.Glu1456Argfs) duplication Pathogenic GRCh38 Chromosome 5, 150398376: 150398376

Expression for Tcof1-Related Treacher Collins Syndrome

Search GEO for disease gene expression data for Tcof1-Related Treacher Collins Syndrome.

Pathways for Tcof1-Related Treacher Collins Syndrome

GO Terms for Tcof1-Related Treacher Collins Syndrome

Sources for Tcof1-Related Treacher Collins Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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