MCID: ATY016
MIFTS: 26

Atypical Werner Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Atypical Werner Syndrome

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Sources:
46NIH Rare Diseases, 23GeneTests, 52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Atypical Werner Syndrome:

Name: Atypical Werner Syndrome 46 23 52
 
Atypical Progeroid Syndrome 46 52

Characteristics:

Orphanet epidemiological data:

52
atypical werner syndrome:
Inheritance: Autosomal dominant

Classifications:



External Ids:

Orphanet52 ORPHA79474
ICD10 via Orphanet29 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, and has symptoms including Array, Array and Array. An important gene associated with Atypical Werner Syndrome is LMNA (Lamin A/C), and among its related pathways is DNA Damage. Affiliated tissues include skin, bone and breast, and related mouse phenotype adipose tissue.

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 syndrome10.1
2nestor-guillermo progeria syndrome10.1
3auditory perceptual disorder9.6LMNA, WRN
4hutchinson-gilford progeria9.6LMNA, WRN
5pancreatic cystadenoma9.5LMNA, WRN
6autoimmune hepatitis9.5LMNA, WRN
7lymphoplasmacytic lymphoma9.4LMNA, WRN
8alzheimer disease 129.2LMNA, 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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Symptoms:

 52 (show all 90)
  • abnormality of the testis
  • hypogonadism
  • decreased fertility
  • thin vermilion border
  • narrow face
  • micrognathia
  • convex nasal ridge
  • congenital cataract
  • retinal degeneration
  • abnormality of the thorax
  • diabetes mellitus
  • hypertension
  • delayed puberty
  • insulin-resistant diabetes mellitus
  • progressive clavicular acroosteolysis
  • hyperinsulinemia
  • secondary amenorrhea
  • chondrocalcinosis
  • osteoporosis
  • hyperkeratosis
  • thin skin
  • prominent superficial veins
  • osteolytic defects of the phalanges of the hand
  • limitation of joint mobility
  • hip dysplasia
  • hepatic steatosis
  • failure to thrive
  • short stature
  • abnormality of the hair
  • alopecia
  • laryngomalacia
  • abnormality of the voice
  • mitral valve prolapse
  • congestive heart failure
  • aortic valve stenosis
  • coronary artery disease
  • pes planus
  • fragile nails
  • rocker bottom foot
  • hypertriglyceridemia
  • white forelock
  • premature graying of hair
  • sparse body hair
  • osteosarcoma
  • meningioma
  • hyperglycemia
  • glycosuria
  • skeletal muscle atrophy
  • calf muscle hypertrophy
  • exercise-induced myalgia
  • pili torti
  • sclerosis of hand bone
  • short palm
  • decreased body weight
  • reduced bone mineral density
  • abnormality of circulating leptin level
  • aortic valve calcification
  • abnormality of the pulmonary artery
  • peripheral arterial disease
  • abnormality of the achilles tendon
  • premature arteriosclerosis
  • progeroid facial appearance
  • type ii diabetes mellitus
  • patchy hypo- and hyperpigmentation
  • prematurely aged appearance
  • subcutaneous calcification
  • abnormal retinal pigmentation
  • aplasia/hypoplasia of the skin
  • neoplasm of the skin
  • premature ovarian failure
  • fasting hyperinsulinemia
  • intervertebral disc degeneration
  • generalized lipodystrophy
  • renal neoplasm
  • abnormal hair whorl
  • increased bone mineral density
  • abnormal hair quantity
  • finger clinodactyly
  • neoplasm of the breast
  • neoplasm of the thyroid gland
  • neoplasm of the lung
  • lipoatrophy
  • teleangiectasia of the skin
  • ovarian neoplasm
  • neoplasm of the oral cavity
  • abnormality of the cerebral vasculature
  • lack of skin elasticity
  • neoplasm of the small intestine
  • aplasia/hypoplasia of the eyebrow
  • skin ulcer

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
MinocyclinePhase 321610118-90-85281021
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
BRN 3077644
Bio-0062
Borymycin
C07225
C23H27N3O7
CHEBI:50694
CHEBI:529981
CHEMBL1434
CHEMBL259172
CID5281021
CL 59806
CRL-1605 & Minocycline
D05045
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 (USAN/INN)
Minocycline Monohydrochloride
Minocycline [USAN:BAN:INN]
Minocyclinum
Minocyclinum [INN-Latin]
NCGC00178854-01
NSC 141993
NSC141993
UNII-FYY3R43WGO
Vectrin (Hydrochloride)
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 Syndrome23 LMNA

Anatomical Context for Atypical Werner Syndrome

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MalaCards organs/tissues related to Atypical Werner Syndrome:

34
Skin, Bone, Breast, Thyroid, Testis, Lung, Heart

Animal Models for Atypical Werner Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Atypical Werner Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1LMNA, WRN

Publications for Atypical Werner Syndrome

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Articles related to Atypical Werner Syndrome:

idTitleAuthorsYear
1
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation. (27539898)
2016
2
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation. (25327215)
2014
3
Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome. (24401204)
2014
4
DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations. (23847654)
2013
5
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 pathwaysScoreTop Affiliating Genes
19.1LMNA, WRN

GO Terms for genes affiliated with Atypical Werner Syndrome

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Sources for Atypical Werner Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet