MCID: ATY016
MIFTS: 28

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
3autoimmune enteropathy9.9LMNA, WRN
4heart-hand syndrome, slovenian type9.8LMNA, WRN
5t-cell large granular lymphocyte leukemia9.8LMNA, WRN
6diffuse lipomatosis9.8LMNA, WRN
7cone-rod dystrophy 99.7LMNA, 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 64 (show all 91)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the testis64 54 Very frequent (99-80%) HP:0000035
2 hypogonadism64 54 Very frequent (99-80%) HP:0000135
3 decreased fertility64 54 Very frequent (99-80%) HP:0000144
4 thin vermilion border64 54 Very frequent (99-80%) HP:0000233
5 narrow face64 54 Very frequent (99-80%) HP:0000275
6 micrognathia64 54 Very frequent (99-80%) HP:0000347
7 convex nasal ridge64 54 Very frequent (99-80%) HP:0000444
8 congenital cataract64 54 Occasional (29-5%) HP:0000519
9 retinal degeneration64 54 Frequent (79-30%) HP:0000546
10 abnormality of the thorax54 Very frequent (99-80%)
11 diabetes mellitus54 Very frequent (99-80%)
12 hypertension64 54 Very frequent (99-80%) HP:0000822
13 delayed puberty64 54 Very frequent (99-80%) HP:0000823
14 insulin-resistant diabetes mellitus64 54 Very frequent (99-80%) HP:0000831
15 progressive clavicular acroosteolysis64 54 Very frequent (99-80%) HP:0000905
16 hyperinsulinemia54 Very frequent (99-80%)
17 secondary amenorrhea64 54 Very frequent (99-80%) HP:0000869
18 chondrocalcinosis64 54 Very frequent (99-80%) HP:0000934
19 osteoporosis64 54 Very frequent (99-80%) HP:0000939
20 hyperkeratosis64 54 Very frequent (99-80%) HP:0000962
21 thin skin64 54 Very frequent (99-80%) HP:0000963
22 prominent superficial veins64 54 Very frequent (99-80%) HP:0001015
23 osteolytic defects of the phalanges of the hand64 54 Very frequent (99-80%) HP:0009771
24 limitation of joint mobility64 54 Very frequent (99-80%) HP:0001376
25 hip dysplasia64 54 Occasional (29-5%) HP:0001385
26 hepatic steatosis64 54 Very frequent (99-80%) HP:0001397
27 failure to thrive64 54 Very frequent (99-80%) HP:0001508
28 short stature64 54 Very frequent (99-80%) HP:0004322
29 abnormality of the hair54 Very frequent (99-80%)
30 alopecia64 54 Very frequent (99-80%) HP:0001596
31 laryngomalacia64 54 Very frequent (99-80%) HP:0001601
32 abnormality of the voice64 54 Very frequent (99-80%) HP:0001608
33 mitral valve prolapse64 54 Occasional (29-5%) HP:0001634
34 congestive heart failure64 54 Very frequent (99-80%) HP:0001635
35 aortic valve stenosis64 54 Frequent (79-30%) HP:0001650
36 coronary artery disease64 54 Very frequent (99-80%) HP:0001677
37 pes planus64 54 Very frequent (99-80%) HP:0001763
38 fragile nails64 54 Very frequent (99-80%) HP:0001808
39 rocker bottom foot64 54 Very frequent (99-80%) HP:0001838
40 hypertriglyceridemia64 54 Very frequent (99-80%) HP:0002155
41 white forelock64 54 Very frequent (99-80%) HP:0002211
42 premature graying of hair64 54 Very frequent (99-80%) HP:0002216
43 sparse body hair64 54 Very frequent (99-80%) HP:0002231
44 osteosarcoma64 54 Very frequent (99-80%) HP:0002669
45 meningioma64 54 Frequent (79-30%) HP:0002858
46 hyperglycemia64 54 Very frequent (99-80%) HP:0003074
47 glycosuria64 54 Very frequent (99-80%) HP:0003076
48 skeletal muscle atrophy64 54 Very frequent (99-80%) HP:0003202
49 calf muscle hypertrophy64 54 Very frequent (99-80%) HP:0008981
50 exercise-induced myalgia64 54 Occasional (29-5%) HP:0003738
51 pili torti64 54 Very frequent (99-80%) HP:0003777
52 sclerosis of hand bone64 54 Very frequent (99-80%) HP:0004054
53 short palm64 54 Very frequent (99-80%) HP:0004279
54 decreased body weight54 Very frequent (99-80%)
55 reduced bone mineral density54 Very frequent (99-80%)
56 abnormality of circulating leptin level64 54 Very frequent (99-80%) HP:0004361
57 aortic valve calcification64 54 Very frequent (99-80%) HP:0004380
58 abnormality of the pulmonary artery64 54 Very frequent (99-80%) HP:0004414
59 peripheral arterial disease64 54 Very frequent (99-80%) HP:0004950
60 abnormality of the achilles tendon64 54 Very frequent (99-80%) HP:0005109
61 premature arteriosclerosis64 54 Very frequent (99-80%) HP:0005177
62 progeroid facial appearance64 54 Very frequent (99-80%) HP:0005328
63 type ii diabetes mellitus64 54 Very frequent (99-80%) HP:0005978
64 patchy hypo- and hyperpigmentation64 54 Very frequent (99-80%) HP:0007509
65 prematurely aged appearance54 Very frequent (99-80%)
66 subcutaneous calcification64 54 Very frequent (99-80%) HP:0007618
67 abnormality of retinal pigmentation64 54 Very frequent (99-80%) HP:0007703
68 aplasia/hypoplasia of the skin54 Very frequent (99-80%)
69 neoplasm of the skin64 54 Frequent (79-30%) HP:0008069
70 premature ovarian failure64 54 Very frequent (99-80%) HP:0008209
71 fasting hyperinsulinemia64 54 Very frequent (99-80%) HP:0008283
72 intervertebral disc degeneration64 54 Frequent (79-30%) HP:0008419
73 generalized lipodystrophy64 54 Very frequent (99-80%) HP:0009064
74 renal neoplasm64 54 Frequent (79-30%) HP:0009726
75 abnormal hair whorl64 54 Very frequent (99-80%) HP:0010721
76 increased bone mineral density54 Occasional (29-5%)
77 abnormal hair quantity54 Very frequent (99-80%)
78 finger clinodactyly64 54 Occasional (29-5%) HP:0040019
79 neoplasm of the breast64 54 Frequent (79-30%) HP:0100013
80 neoplasm of the thyroid gland64 54 Frequent (79-30%) HP:0100031
81 neoplasm of the lung64 54 Frequent (79-30%) HP:0100526
82 lipoatrophy64 54 Very frequent (99-80%) HP:0100578
83 teleangiectasia of the skin54 Very frequent (99-80%)
84 ovarian neoplasm64 54 Frequent (79-30%) HP:0100615
85 neoplasm of the oral cavity64 54 Frequent (79-30%) HP:0100649
86 abnormality of the cerebral vasculature64 54 Very frequent (99-80%) HP:0100659
87 lack of skin elasticity64 54 Very frequent (99-80%) HP:0100679
88 neoplasm of the small intestine64 54 Frequent (79-30%) HP:0100833
89 aplasia/hypoplasia of the eyebrow64 54 Very frequent (99-80%) HP:0100840
90 skin ulcer64 54 Very frequent (99-80%) HP:0200042
91 telangiectasia of the skin64 HP:0100585

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 323110118-90-85281021
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
Alti-Minocycline
Apo-Minocycline
Arestin
BRN 3077644
Bio-0062
Borymycin
C07225
C23H27N3O7
CHEBI:50694
CHEBI:529981
CHEMBL1434
CHEMBL259172
CID5281021
CL 59806
CRL-1605 & Minocycline
D05045
Dynacin
Gen-Minocycline
HMS2090D03
HSDB 3130
Klinomycin
 
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 HCl
Minocycline Monohydrochloride
Minocycline [USAN:BAN:INN]
Minocyclinum
Minocyclinum [INN-Latin]
Minocyn
Minomycin
NCGC00178854-01
NSC 141993
NSC141993
Novo-Minocycline
Solodyn
UNII-FYY3R43WGO
Vectrin
Vectrin (Hydrochloride)
minociclinum
minocycline
nchembio.559-comp1
2Anti-Infective AgentsPhase 322062
3Anti-Bacterial AgentsPhase 311226

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
Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome. (24401204)
2014
3
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation. (25327215)
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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Cellular components related to Atypical Werner Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear speckGO:00166079.1LMNA, WRN

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