MCID: PLR011
MIFTS: 12

Polr1d-Related Treacher Collins Syndrome malady

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

Aliases & Classifications for Polr1d-Related Treacher Collins Syndrome

About this section

Aliases & Descriptions for Polr1d-Related Treacher Collins Syndrome:

Name: Polr1d-Related Treacher Collins Syndrome 22
Treacher Collins Syndrome 2 22
 
Tcs2 22


Classifications:



Summaries for Polr1d-Related Treacher Collins Syndrome

About this section
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 (Polymerase (RNA) I Polypeptide D, 16kDa). Affiliated tissues include bone and eye.

Related Diseases for Polr1d-Related Treacher Collins Syndrome

About this section

Diseases in the Familial Treacher Collins Syndrome family:

Treacher Collins Syndrome 1 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:

idRelated DiseaseScoreTop Affiliating Genes
1treacher collins syndrome 210.8
2treacher collins syndrome 110.1

Symptoms for Polr1d-Related Treacher Collins Syndrome

About this section

Drugs & Therapeutics for Polr1d-Related Treacher Collins Syndrome

About this section

Interventional clinical trials:

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

Genetic Tests for Polr1d-Related Treacher Collins Syndrome

About this section

Genetic tests related to Polr1d-Related Treacher Collins Syndrome:

id Genetic test Affiliating Genes
1 Polr1d-Related Treacher Collins Syndrome22 POLR1D

Anatomical Context for Polr1d-Related Treacher Collins Syndrome

About this section

MalaCards organs/tissues related to Polr1d-Related Treacher Collins Syndrome:

33
Bone, Eye

Animal Models for Polr1d-Related Treacher Collins Syndrome or affiliated genes

About this section

Publications for Polr1d-Related Treacher Collins Syndrome

About this section

Variations for Polr1d-Related Treacher Collins Syndrome

About this section

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1POLR1DNM_015972.3(POLR1D): c.163C> G (p.Leu55Val)single nucleotide variantPathogenicrs587777841GRCh37Chr 13, 28197148: 28197148
2POLR1DPOLR1D, ARG87TERsingle nucleotide variantPathogenic
3POLR1DPOLR1D, GLU47LYSsingle nucleotide variantPathogenic
4POLR1DPOLR1D, LEU51ARGsingle nucleotide variantPathogenic
5POLR1DPOLR1D, 2-BP DEL, 326CAdeletionPathogenic
6POLR1DPOLR1D, 2-BP DUP, 263GduplicationPathogenic
7POLR1DPOLR1D, 2-BP INS, 88TGinsertionPathogenic

Expression for genes affiliated with Polr1d-Related Treacher Collins Syndrome

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

Pathways for genes affiliated with Polr1d-Related Treacher Collins Syndrome

About this section

GO Terms for genes affiliated with Polr1d-Related Treacher Collins Syndrome

About this section

Sources for Polr1d-Related Treacher Collins Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet