MCID: ATY016
MIFTS: 18

Atypical Werner Syndrome malady

Fetal category

Summaries for Atypical Werner Syndrome

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33MalaCards
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MalaCards: Atypical Werner Syndrome, also known as atypical progeroid syndrome, is related to werner syndrome and mandibuloacral dysplasia. An important gene associated with Atypical Werner Syndrome is LMNA (lamin A/C), and among its related pathways are Adipogenesis and DNA Damage. The compounds rosiglitazone and arginine have been mentioned in the context of this disorder. Related mouse phenotypes are adipose tissue and digestive/alimentary.

Aliases & Classifications for Atypical Werner Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal


Aliases & Descriptions:

atypical werner syndrome 43 20 49
atypical progeroid syndrome 49


External Ids:

ICD10 via Orphanet26 E34.8

Related Diseases for Atypical Werner Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Atypical Werner Syndrome:



Diseases related to atypical werner syndrome

Clinical Features for Atypical Werner Syndrome

Drugs & Therapeutics for Atypical Werner Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Atypical Werner Syndrome

Drug clinical trials:

Search ClinicalTrials for Atypical Werner Syndrome

Search NIH Clinical Center for Atypical Werner Syndrome

Search CenterWatch for Atypical Werner Syndrome

Genetic Tests for Atypical Werner Syndrome

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20GeneTests
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Genetic tests related to Atypical Werner Syndrome:

id Genetic test Affiliating Genes
1 Atypical Werner Syndrome20 LMNA

Anatomical Context for Atypical Werner Syndrome

Animal Models for Atypical Werner Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Atypical Werner Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7LMNA, INS, WRN
2MP:00053818.7LMNA, INS, WRN
3MP:00053918.6WRN, INS, LMNA
4MP:00053798.6LMNA, INS, WRN
5MP:00053908.5WRN, INS, LMNA
6MP:00053858.5LMNA, INS, WRN
7MP:00107718.4LMNA, INS, WRN
8MP:00053898.2WRN, INS, LMNA

Publications for Atypical Werner Syndrome

Sources:
51PubMed
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Articles related to Atypical Werner Syndrome:

(show all 11)
idTitleAuthorsYear
1
Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome. (24401204)
2014
2
DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations. (23847654)
2013
3
Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome. (19270485)
2009
4
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease. (19095983)
2009
5
The atypical of Werner syndrome: effect of laminopathy]. (18959190)
2008
6
Atypical meningioma in Werner syndrome: a case report. (16598422)
2006
7
Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation. (16174718)
2005
8
LMNA mutations in atypical Werner's syndrome. (12927431)
2003
9
LMNA mutations in atypical Werner's syndrome. (14615129)
2003
10
LMNA mutations in atypical Werner's syndrome. (14615128)
2003
11
Atypical osteosarcomas in Werner Syndrome (adult progeria). (11123436)
2000

Genetic Variations for Atypical Werner Syndrome

Expression for genes affiliated with Atypical Werner Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Atypical Werner Syndrome

Search GEO for disease gene expression data for Atypical Werner Syndrome.

Pathways for genes affiliated with Atypical Werner Syndrome

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Atypical Werner Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3LMNA, INS
2
Hide members
9.0LMNA, WRN

Compounds for genes affiliated with Atypical Werner Syndrome

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Atypical Werner Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rosiglitazone45 50 29 11 2413.3LMNA, INS
2arginine458.2LMNA, INS, WRN

GO Terms for genes affiliated with Atypical Werner Syndrome

Sources:
16Gene Ontology
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Biological processes related to Atypical Werner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of apoptotic processGO:0429819.0LMNA, WRN

Products for genes affiliated with Atypical Werner Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Atypical Werner Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet