MCID: TMP012
MIFTS: 24

Temple Syndrome malady

Genetic diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Temple Syndrome

About this section
Sources:
45OMIM, 20GeneTests, 47Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Temple Syndrome, Aliases & Descriptions:

Name: Temple Syndrome 45
Maternal Uniparental Disomy of Chromosome 14 47 22
 
Maternal Uniparental Disomy, Chromosome 14 20
Upd(14)mat 47


Classifications:



External Ids:

OMIM45 616222
Orphanet47 96184
ICD10 via Orphanet26 Q99.8

Summaries for Temple Syndrome

About this section


OMIM:45 Temple syndrome is a short stature disorder of imprinting. The cardinal features are low birth weight, hypotonia and... (616222) more...

MalaCards based summary: Temple Syndrome, also known as maternal uniparental disomy of chromosome 14, is related to prader-willi syndrome and west syndrome. An important gene associated with Temple Syndrome is DLK1 (delta-like 1 homolog (Drosophila)). Related mouse phenotypes are muscle and liver/biliary system.

Related Diseases for Temple Syndrome

About this section

Diseases related to Temple Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1prader-willi syndrome10.5
2west syndrome10.5
3precocious puberty10.5
4central precocious puberty10.5
5houlston ironton temple syndrome10.4
6curry jones syndrome10.1
7atrioventricular defect - blepharophimosis -radial defects10.1

Graphical network of diseases related to Temple Syndrome:



Diseases related to temple syndrome

Symptoms for Temple Syndrome

About this section


Clinical features from OMIM:

616222

Drugs & Therapeutics for Temple Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Temple Syndrome

Search NIH Clinical Center for Temple Syndrome

Genetic Tests for Temple Syndrome

About this section

Genetic tests related to Temple Syndrome:

id Genetic test Affiliating Genes
1 Maternal Uniparental Disomy, Chromosome 1420
2 Uniparental Disomy of Chromosome 14, Maternal22

Anatomical Context for Temple Syndrome

About this section

Animal Models for Temple Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Temple Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0DLK1, MEG3
2MP:00053708.7DLK1, MEG3
3MP:00053808.6DLK1, MEG3, RTL1
4MP:00053788.5DLK1, MEG3, RTL1
5MP:00107688.4RTL1, MEG3, DLK1

Publications for Temple Syndrome

About this section

Variations for Temple Syndrome

About this section

Expression for genes affiliated with Temple Syndrome

About this section
Search GEO for disease gene expression data for Temple Syndrome.

Pathways for genes affiliated with Temple Syndrome

About this section

Compounds for genes affiliated with Temple Syndrome

About this section

GO Terms for genes affiliated with Temple Syndrome

About this section

Biological processes related to Temple Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1multicellular organismal developmentGO:00072759.3DLK1, RTL1

Products for genes affiliated with Temple Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Temple Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet