TCS2
MCID: PLR011
MIFTS: 9

Polr1d-Related Treacher Collins Syndrome (TCS2) malady

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

Aliases & Classifications for Polr1d-Related Treacher Collins Syndrome

Aliases & Descriptions for Polr1d-Related Treacher Collins Syndrome:

Name: Polr1d-Related Treacher Collins Syndrome 24
Treacher Collins Syndrome 2 24 69
Tcs2 24

Classifications:



Summaries for Polr1d-Related Treacher Collins Syndrome

MalaCards based summary : Polr1d-Related Treacher Collins Syndrome, also known as treacher collins syndrome 2, is related to treacher collins syndrome 2 and treacher collins syndrome 1. An important gene associated with Polr1d-Related Treacher Collins Syndrome is POLR1D (RNA Polymerase I Subunit D).

Related Diseases for Polr1d-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 Polr1d-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 2 12.5
2 treacher collins syndrome 1 10.9

Symptoms & Phenotypes for Polr1d-Related Treacher Collins Syndrome

Drugs & Therapeutics for Polr1d-Related Treacher Collins Syndrome

Search Clinical Trials , NIH Clinical Center for Polr1d-Related Treacher Collins Syndrome

Genetic Tests for Polr1d-Related Treacher Collins Syndrome

Genetic tests related to Polr1d-Related Treacher Collins Syndrome:

id Genetic test Affiliating Genes
1 Polr1d-Related Treacher Collins Syndrome 24 POLR1D

Anatomical Context for Polr1d-Related Treacher Collins Syndrome

Publications for Polr1d-Related Treacher Collins Syndrome

Variations for Polr1d-Related Treacher Collins Syndrome

ClinVar genetic disease variations for Polr1d-Related Treacher Collins Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 POLR1D POLR1D, ARG87TER single nucleotide variant Pathogenic
2 POLR1D POLR1D, GLU47LYS single nucleotide variant Pathogenic
3 POLR1D POLR1D, LEU51ARG single nucleotide variant Pathogenic
4 POLR1D POLR1D, 2-BP DEL, 326CA deletion Pathogenic
5 POLR1D POLR1D, 2-BP DUP, 263G duplication Pathogenic
6 POLR1D POLR1D, 2-BP INS, 88TG insertion Pathogenic
7 POLR1D NM_015972.3(POLR1D): c.163C> G (p.Leu55Val) single nucleotide variant Pathogenic rs587777841 GRCh37 Chromosome 13, 28197148: 28197148

Expression for Polr1d-Related Treacher Collins Syndrome

Search GEO for disease gene expression data for Polr1d-Related Treacher Collins Syndrome.

Pathways for Polr1d-Related Treacher Collins Syndrome

GO Terms for Polr1d-Related Treacher Collins Syndrome

Sources for Polr1d-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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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