MCID: ATY016
MIFTS: 28

Atypical Werner Syndrome malady

Categories: Rare diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Atypical Werner Syndrome

Aliases & Descriptions for Atypical Werner Syndrome:

Name: Atypical Werner Syndrome 50 24 56
Atypical Progeroid Syndrome 50 56

Characteristics:

Orphanet epidemiological data:

56
atypical werner syndrome
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Orphanet 56 ORPHA79474
ICD10 via Orphanet 34 E34.8

Summaries for Atypical Werner Syndrome

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 exercise-induced myalgia, hypertension and failure to thrive. 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 lung, 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 autoimmune enteropathy 9.9 LMNA WRN
4 heart-hand syndrome, slovenian type 9.8 LMNA WRN
5 t-cell large granular lymphocyte leukemia 9.8 LMNA WRN
6 diffuse lipomatosis 9.8 LMNA WRN
7 cone-rod dystrophy 9 9.7 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 91)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 exercise-induced myalgia 56 32 Occasional (29-5%) HP:0003738
2 hypertension 56 32 Very frequent (99-80%) HP:0000822
3 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
4 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
5 type ii diabetes mellitus 56 32 Very frequent (99-80%) HP:0005978
6 pes planus 56 32 Very frequent (99-80%) HP:0001763
7 short stature 56 32 Very frequent (99-80%) HP:0004322
8 abnormality of retinal pigmentation 56 32 Very frequent (99-80%) HP:0007703
9 delayed puberty 56 32 Very frequent (99-80%) HP:0000823
10 osteoporosis 56 32 Very frequent (99-80%) HP:0000939
11 laryngomalacia 56 32 Very frequent (99-80%) HP:0001601
12 lipoatrophy 56 32 Very frequent (99-80%) HP:0100578
13 hypertriglyceridemia 56 32 Very frequent (99-80%) HP:0002155
14 skeletal muscle atrophy 56 32 Very frequent (99-80%) HP:0003202
15 micrognathia 56 32 Very frequent (99-80%) HP:0000347
16 hyperkeratosis 56 32 Very frequent (99-80%) HP:0000962
17 short palm 56 32 Very frequent (99-80%) HP:0004279
18 thin skin 56 32 Very frequent (99-80%) HP:0000963
19 congestive heart failure 56 32 Very frequent (99-80%) HP:0001635
20 lack of skin elasticity 56 32 Very frequent (99-80%) HP:0100679
21 limitation of joint mobility 56 32 Very frequent (99-80%) HP:0001376
22 secondary amenorrhea 56 32 Very frequent (99-80%) HP:0000869
23 hepatic steatosis 56 32 Very frequent (99-80%) HP:0001397
24 skin ulcer 56 32 Very frequent (99-80%) HP:0200042
25 hypogonadism 56 32 Very frequent (99-80%) HP:0000135
26 premature graying of hair 56 32 Very frequent (99-80%) HP:0002216
27 abnormality of the cerebral vasculature 56 32 Very frequent (99-80%) HP:0100659
28 narrow face 56 32 Very frequent (99-80%) HP:0000275
29 mitral valve prolapse 56 32 Occasional (29-5%) HP:0001634
30 abnormality of the testis 56 32 Very frequent (99-80%) HP:0000035
31 abnormality of the voice 56 32 Very frequent (99-80%) HP:0001608
32 decreased fertility 56 32 Very frequent (99-80%) HP:0000144
33 neoplasm of the skin 56 32 Frequent (79-30%) HP:0008069
34 fasting hyperinsulinemia 56 32 Very frequent (99-80%) HP:0008283
35 alopecia 56 32 Very frequent (99-80%) HP:0001596
36 convex nasal ridge 56 32 Very frequent (99-80%) HP:0000444
37 ovarian neoplasm 56 32 Frequent (79-30%) HP:0100615
38 thin vermilion border 56 32 Very frequent (99-80%) HP:0000233
39 meningioma 56 32 Frequent (79-30%) HP:0002858
40 sparse body hair 56 32 Very frequent (99-80%) HP:0002231
41 aplasia/hypoplasia of the eyebrow 56 32 Very frequent (99-80%) HP:0100840
42 osteosarcoma 56 32 Very frequent (99-80%) HP:0002669
43 white forelock 56 32 Very frequent (99-80%) HP:0002211
44 abnormality of the pulmonary artery 56 32 Very frequent (99-80%) HP:0004414
45 neoplasm of the lung 56 32 Frequent (79-30%) HP:0100526
46 neoplasm of the small intestine 56 32 Frequent (79-30%) HP:0100833
47 neoplasm of the thyroid gland 56 32 Frequent (79-30%) HP:0100031
48 neoplasm of the breast 56 32 Frequent (79-30%) HP:0100013
49 chondrocalcinosis 56 32 Very frequent (99-80%) HP:0000934
50 finger clinodactyly 56 32 Occasional (29-5%) HP:0040019

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
1 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3

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, Lung, Heart, Breast, Thyroid, Testis

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
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

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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