MCID: ATY016
MIFTS: 32

Atypical Werner Syndrome

Categories: Rare diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Atypical Werner Syndrome

Summaries for Atypical Werner Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 79474disease definitionatypical werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as werner syndrome (ws; see this term) but do not carry wrn genemutations. similar to classical ws caused by wrn mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.epidemiologythe prevalence is unknown.clinical descriptionatypical ws shows accelerated aging characterized by short stature, thinning/graying of hair, a ''bird-like'' facial appearance, skin atrophy, lipodystrophy, myopathy along with other age-related disorders such as osteoporosis and atherosclerosis. compared to ws, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression. cataracts are often not present.etiologya subset of atypical ws is caused by the mutation of the lmna gene, the same causal gene seen in hutchinson-gilford progeria syndrome (hgps; see this term) that codes for the nuclear intermediate filament, lamin a/c. the lmna type of atypical ws follows an autosomal dominant pattern of inheritance. additional causes of atypical ws are being discovered, and their inheritance patterns elucidated.visit the orphanet disease page for more resources. last updated: 4/1/2012

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 abnormality of the testis, hypogonadism and decreased fertility. An important gene associated with Atypical Werner Syndrome is LMNA (Lamin A/C), and among its related pathways/superpathways is DNA Damage. The drugs Minocycline and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and breast, and related phenotype is adipose tissue.

Related Diseases for Atypical Werner Syndrome

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

id Related Disease Score Top Affiliating Genes
1 nestor-guillermo progeria syndrome 11.0
2 werner syndrome 10.0
3 auriculo-condylar syndrome 9.5 LMNA WRN
4 alzheimer disease 12 9.5 LMNA WRN
5 hutchinson-gilford progeria 9.4 LMNA WRN
6 lymphoplasmacytic lymphoma 9.2 LMNA WRN

Graphical network of the top 20 diseases related to Atypical Werner Syndrome:



Diseases related to Atypical Werner Syndrome

Symptoms & Phenotypes for Atypical Werner Syndrome

Human phenotypes related to Atypical Werner Syndrome:

56 32 (show top 50) (show all 92)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the testis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000035
2 hypogonadism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000135
3 decreased fertility 56 32 hallmark (90%) Very frequent (99-80%) HP:0000144
4 thin vermilion border 56 32 hallmark (90%) Very frequent (99-80%) HP:0000233
5 narrow face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000275
6 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
7 convex nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000444
8 congenital cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000519
9 retinal degeneration 56 32 frequent (33%) Frequent (79-30%) HP:0000546
10 hypertension 56 32 hallmark (90%) Very frequent (99-80%) HP:0000822
11 delayed puberty 56 32 hallmark (90%) Very frequent (99-80%) HP:0000823
12 insulin-resistant diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000831
13 progressive clavicular acroosteolysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000905
14 secondary amenorrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000869
15 chondrocalcinosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000934
16 osteoporosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000939
17 hyperkeratosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000962
18 thin skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000963
19 prominent superficial veins 56 32 hallmark (90%) Very frequent (99-80%) HP:0001015
20 osteolytic defects of the phalanges of the hand 56 32 hallmark (90%) Very frequent (99-80%) HP:0009771
21 limitation of joint mobility 56 32 hallmark (90%) Very frequent (99-80%) HP:0001376
22 hip dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001385
23 hepatic steatosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001397
24 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
25 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
26 alopecia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001596
27 laryngomalacia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001601
28 abnormality of the voice 56 32 hallmark (90%) Very frequent (99-80%) HP:0001608
29 mitral valve prolapse 56 32 occasional (7.5%) Occasional (29-5%) HP:0001634
30 congestive heart failure 56 32 hallmark (90%) Very frequent (99-80%) HP:0001635
31 aortic valve stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0001650
32 coronary artery disease 56 32 hallmark (90%) Very frequent (99-80%) HP:0001677
33 pes planus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001763
34 fragile nails 56 32 hallmark (90%) Very frequent (99-80%) HP:0001808
35 rocker bottom foot 56 32 hallmark (90%) Very frequent (99-80%) HP:0001838
36 hypertriglyceridemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002155
37 white forelock 56 32 hallmark (90%) Very frequent (99-80%) HP:0002211
38 premature graying of hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002216
39 sparse body hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002231
40 osteosarcoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0002669
41 meningioma 56 32 frequent (33%) Frequent (79-30%) HP:0002858
42 hyperglycemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003074
43 glycosuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0003076
44 skeletal muscle atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003202
45 calf muscle hypertrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008981
46 exercise-induced myalgia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003738
47 pili torti 56 32 hallmark (90%) Very frequent (99-80%) HP:0003777
48 sclerosis of hand bone 56 32 hallmark (90%) Very frequent (99-80%) HP:0004054
49 short palm 56 32 hallmark (90%) Very frequent (99-80%) HP:0004279
50 abnormality of circulating leptin level 56 32 hallmark (90%) Very frequent (99-80%) HP:0004361

MGI Mouse Phenotypes related to Atypical Werner Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 LMNA WRN

Drugs & Therapeutics for Atypical Werner Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
2 Anti-Bacterial Agents Phase 3
3 Anti-Infective Agents Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3 Minocyline

Search NIH Clinical Center for Atypical Werner Syndrome

Genetic Tests for Atypical Werner Syndrome

Genetic tests related to Atypical Werner Syndrome:

id Genetic test Affiliating Genes
1 Atypical Werner Syndrome 24 LMNA

Anatomical Context for Atypical Werner Syndrome

MalaCards organs/tissues related to Atypical Werner Syndrome:

39
Skin, Bone, Breast, Thyroid, Testis, Lung, Heart

Publications for Atypical Werner Syndrome

Articles related to Atypical Werner Syndrome:

id Title Authors Year
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

Expression for Atypical Werner Syndrome

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

Pathways for Atypical Werner Syndrome

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

id Super pathways Score Top Affiliating Genes
1 11.09 LMNA WRN

GO Terms for Atypical Werner Syndrome

Cellular components related to Atypical Werner Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear speck GO:0016607 8.62 LMNA WRN

Sources for Atypical Werner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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