MCID: ATY016
MIFTS: 17

Atypical Werner Syndrome malady

Genetic diseases, Rare diseases, Fetal diseases categories

Aliases & Classifications for Atypical Werner Syndrome

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Sources:
45NIH Rare Diseases, 22GeneTests, 51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Atypical Werner Syndrome:

Name: Atypical Werner Syndrome 45 22 51
 
Atypical Progeroid Syndrome 45 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
atypical werner syndrome:
Inheritance: Autosomal dominant


External Ids:

Orphanet51 79474
ICD10 via Orphanet28 E34.8

Summaries for Atypical Werner Syndrome

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MalaCards based summary: Atypical Werner Syndrome, also known as atypical progeroid syndrome, is related to werner syndrome and nestor-guillermo progeria syndrome. An important gene associated with Atypical Werner Syndrome is LMNA (Lamin A/C), and among its related pathways is DNA Damage. Related mouse phenotypes are adipose tissue and limbs/digits/tail.

Related Diseases for Atypical Werner Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1werner syndrome30.4LMNA, WRN
2nestor-guillermo progeria syndrome10.2
3auditory neuropathy9.8LMNA, WRN
4hutchinson-gilford progeria9.8LMNA, WRN
5clitoris cancer9.7LMNA, WRN

Graphical network of diseases related to Atypical Werner Syndrome:



Diseases related to atypical werner syndrome

Symptoms for Atypical Werner Syndrome

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Drugs & Therapeutics for Atypical Werner Syndrome

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Drugs for Atypical Werner Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Minocyclineapproved, investigationalPhase 316210118-90-85281021
Synonyms:
(2Z,4S,4aS,5aR,12aS)-2-[amino(hydroxy)methylidene]-4,7-bis(dimethylamino)-10,11,12a-trihydroxy-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AS,5AR,12AS)-4,7-BIS(DIMETHYLAMINO)-3,10,12,12A-TETRAHYDROXY-1,11-DIOXO-1,4,4A,5,5A,6,11,12A-OCTAHYDROTETRACENE-2-CARBOXAMIDE
(4S,4AS,5ar,12as)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10118-90-8
13614-98-7 (mono-hydrochloride)
4,7-Bis(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,10,12,12a-tetrahydroxy-1,11-dioxo-2-naphthacenecarboxamide
4708-96-7
7-Dimethylamino-6-demethyl-6-deoxytetracycline
AC1NQXWM
Arestin
BRN 3077644
Bio-0062
Borymycin
C07225
C23H27N3O7
CHEBI:50694
CHEBI:529981
CHEMBL1434
CHEMBL259172
CID5281021
CL 59806
CRL-1605 & Minocycline
D05045
Dynacin
HMS2090D03
HSDB 3130
LMPK07000002
 
LS-93850
Lactoferrin B & Minocycline
Lactoferrin H & Minocycline
MINO
MIY
Minociclina
Minociclina [INN-Spanish]
Minociclinum
Minocin
Minocin (Hydrochloride)
Minocline
Minocyclin
Minocycline
Minocycline (USAN/INN)
Minocycline Hydrochloride
Minocycline Monohydrochloride
Minocycline [USAN:BAN:INN]
Minocyclinum
Minocyclinum [INN-Latin]
NCGC00178854-01
NSC 141993
NSC141993
Solodyn
UNII-FYY3R43WGO
Vectrin (Hydrochloride)
Ximino
minociclinum
minocycline
nchembio.559-comp1

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study About Efficacy and Safety to Treat Multi-System-AtrophyCompletedNCT00146809Phase 3

Search NIH Clinical Center for Atypical Werner Syndrome

Genetic Tests for Atypical Werner Syndrome

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Genetic tests related to Atypical Werner Syndrome:

id Genetic test Affiliating Genes
1 Atypical Werner Syndrome22 LMNA

Anatomical Context for Atypical Werner Syndrome

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Animal Models for Atypical Werner Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Atypical Werner Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1LMNA, WRN
2MP:00053718.8LMNA, WRN

Publications for Atypical Werner Syndrome

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Articles related to Atypical Werner Syndrome:

idTitleAuthorsYear
1
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation. (25327215)
2014
2
Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome. (24401204)
2014
3
DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations. (23847654)
2013
4
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease. (19095983)
2009

Variations for Atypical Werner Syndrome

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Expression for genes affiliated with Atypical Werner Syndrome

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

Pathways for genes affiliated with Atypical Werner Syndrome

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Pathways related to Atypical Werner Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LMNA, WRN

GO Terms for genes affiliated with Atypical Werner Syndrome

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Biological processes related to Atypical Werner Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular protein metabolic processGO:00442679.1LMNA, WRN

Sources for Atypical Werner Syndrome

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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