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:
24GeneTests, 31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Atypical Werner Syndrome:

Name: Atypical Werner Syndrome 48 24 54
 
Atypical Progeroid Syndrome 48 54

Characteristics:

Orphanet epidemiological data:

54
atypical werner syndrome:
Inheritance: Autosomal dominant

Classifications:



External Ids:

Orphanet54 ORPHA79474
ICD10 via Orphanet31 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 nestor-guillermo progeria syndrome and werner 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
1nestor-guillermo progeria syndrome11.0
2werner syndrome10.0
3hutchinson-gilford progeria9.5LMNA, WRN
4autoimmune hepatitis9.5LMNA, WRN
5pancreatic cystadenoma9.5LMNA, WRN
6alzheimer disease 129.3LMNA, WRN

Graphical network of diseases related to Atypical Werner Syndrome:



Diseases related to atypical werner syndrome

Symptoms & Phenotypes for Atypical Werner Syndrome

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Human phenotypes related to Atypical Werner Syndrome:

 54 (show all 90)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the testis54 Very frequent (99-80%)
2 hypogonadism54 Very frequent (99-80%)
3 decreased fertility54 Very frequent (99-80%)
4 thin vermilion border54 Very frequent (99-80%)
5 narrow face54 Very frequent (99-80%)
6 micrognathia54 Very frequent (99-80%)
7 convex nasal ridge54 Very frequent (99-80%)
8 congenital cataract54 Occasional (29-5%)
9 retinal degeneration54 Frequent (79-30%)
10 abnormality of the thorax54 Very frequent (99-80%)
11 diabetes mellitus54 Very frequent (99-80%)
12 hypertension54 Very frequent (99-80%)
13 delayed puberty54 Very frequent (99-80%)
14 insulin-resistant diabetes mellitus54 Very frequent (99-80%)
15 progressive clavicular acroosteolysis54 Very frequent (99-80%)
16 hyperinsulinemia54 Very frequent (99-80%)
17 secondary amenorrhea54 Very frequent (99-80%)
18 chondrocalcinosis54 Very frequent (99-80%)
19 osteoporosis54 Very frequent (99-80%)
20 hyperkeratosis54 Very frequent (99-80%)
21 thin skin54 Very frequent (99-80%)
22 prominent superficial veins54 Very frequent (99-80%)
23 osteolytic defects of the phalanges of the hand54 Very frequent (99-80%)
24 limitation of joint mobility54 Very frequent (99-80%)
25 hip dysplasia54 Occasional (29-5%)
26 hepatic steatosis54 Very frequent (99-80%)
27 failure to thrive54 Very frequent (99-80%)
28 short stature54 Very frequent (99-80%)
29 abnormality of the hair54 Very frequent (99-80%)
30 alopecia54 Very frequent (99-80%)
31 laryngomalacia54 Very frequent (99-80%)
32 abnormality of the voice54 Very frequent (99-80%)
33 mitral valve prolapse54 Occasional (29-5%)
34 congestive heart failure54 Very frequent (99-80%)
35 aortic valve stenosis54 Frequent (79-30%)
36 coronary artery disease54 Very frequent (99-80%)
37 pes planus54 Very frequent (99-80%)
38 fragile nails54 Very frequent (99-80%)
39 rocker bottom foot54 Very frequent (99-80%)
40 hypertriglyceridemia54 Very frequent (99-80%)
41 white forelock54 Very frequent (99-80%)
42 premature graying of hair54 Very frequent (99-80%)
43 sparse body hair54 Very frequent (99-80%)
44 osteosarcoma54 Very frequent (99-80%)
45 meningioma54 Frequent (79-30%)
46 hyperglycemia54 Very frequent (99-80%)
47 glycosuria54 Very frequent (99-80%)
48 skeletal muscle atrophy54 Very frequent (99-80%)
49 calf muscle hypertrophy54 Very frequent (99-80%)
50 exercise-induced myalgia54 Occasional (29-5%)
51 pili torti54 Very frequent (99-80%)
52 sclerosis of hand bone54 Very frequent (99-80%)
53 short palm54 Very frequent (99-80%)
54 decreased body weight54 Very frequent (99-80%)
55 reduced bone mineral density54 Very frequent (99-80%)
56 abnormality of circulating leptin level54 Very frequent (99-80%)
57 aortic valve calcification54 Very frequent (99-80%)
58 abnormality of the pulmonary artery54 Very frequent (99-80%)
59 peripheral arterial disease54 Very frequent (99-80%)
60 abnormality of the achilles tendon54 Very frequent (99-80%)
61 premature arteriosclerosis54 Very frequent (99-80%)
62 progeroid facial appearance54 Very frequent (99-80%)
63 type ii diabetes mellitus54 Very frequent (99-80%)
64 patchy hypo- and hyperpigmentation54 Very frequent (99-80%)
65 prematurely aged appearance54 Very frequent (99-80%)
66 subcutaneous calcification54 Very frequent (99-80%)
67 abnormality of retinal pigmentation54 Very frequent (99-80%)
68 aplasia/hypoplasia of the skin54 Very frequent (99-80%)
69 neoplasm of the skin54 Frequent (79-30%)
70 premature ovarian failure54 Very frequent (99-80%)
71 fasting hyperinsulinemia54 Very frequent (99-80%)
72 intervertebral disc degeneration54 Frequent (79-30%)
73 generalized lipodystrophy54 Very frequent (99-80%)
74 renal neoplasm54 Frequent (79-30%)
75 abnormal hair whorl54 Very frequent (99-80%)
76 increased bone mineral density54 Occasional (29-5%)
77 abnormal hair quantity54 Very frequent (99-80%)
78 finger clinodactyly54 Occasional (29-5%)
79 neoplasm of the breast54 Frequent (79-30%)
80 neoplasm of the thyroid gland54 Frequent (79-30%)
81 neoplasm of the lung54 Frequent (79-30%)
82 lipoatrophy54 Very frequent (99-80%)
83 teleangiectasia of the skin54 Very frequent (99-80%)
84 ovarian neoplasm54 Frequent (79-30%)
85 neoplasm of the oral cavity54 Frequent (79-30%)
86 abnormality of the cerebral vasculature54 Very frequent (99-80%)
87 lack of skin elasticity54 Very frequent (99-80%)
88 neoplasm of the small intestine54 Frequent (79-30%)
89 aplasia/hypoplasia of the eyebrow54 Very frequent (99-80%)
90 skin ulcer54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Atypical Werner Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1LMNA, WRN

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 322410118-90-85281021
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
2Anti-Infective AgentsPhase 321402
3Anti-Bacterial AgentsPhase 310884

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 Syndrome24 LMNA

Anatomical Context for Atypical Werner Syndrome

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MalaCards organs/tissues related to Atypical Werner Syndrome:

36
Skin, Bone, Breast, Thyroid, Testis, Lung, Heart

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet