MCID: ATY016
MIFTS: 31

Atypical Werner Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Atypical Werner Syndrome

Summaries for Atypical Werner Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Atypical Werner Syndrome, also known as atypical progeroid syndrome, is related to werner syndrome and nestor-guillermo progeria syndrome. An important gene associated with Atypical Werner Syndrome is LMNA (Lamin A/C), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include skin, bone and breast, and related phenotypes are abnormality of the testis and hypogonadism

Related Diseases for Atypical Werner Syndrome

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

# Related Disease Score Top Affiliating Genes
1 werner syndrome 29.0 LMNA WRN
2 nestor-guillermo progeria syndrome 11.1
3 hutchinson-gilford progeria syndrome 9.4 LMNA WRN
4 autosomal genetic disease 9.3 LMNA WRN
5 aging 9.0 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:

59 32 (show top 50) (show all 92)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the testis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000035
2 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
3 decreased fertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000144
4 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
5 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
6 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
7 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
8 congenital cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000519
9 retinal degeneration 59 32 frequent (33%) Frequent (79-30%) HP:0000546
10 hypertension 59 32 hallmark (90%) Very frequent (99-80%) HP:0000822
11 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
12 insulin-resistant diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000831
13 progressive clavicular acroosteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000905
14 secondary amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000869
15 chondrocalcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000934
16 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
17 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
18 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
19 prominent superficial veins 59 32 hallmark (90%) Very frequent (99-80%) HP:0001015
20 osteolytic defects of the phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0009771
21 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
22 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
23 hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001397
24 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
25 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
26 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
27 laryngomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001601
28 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
29 mitral valve prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0001634
30 congestive heart failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001635
31 aortic valve stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0001650
32 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
33 fragile nails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001808
34 rocker bottom foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001838
35 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
36 white forelock 59 32 hallmark (90%) Very frequent (99-80%) HP:0002211
37 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
38 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
39 osteosarcoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002669
40 meningioma 59 32 frequent (33%) Frequent (79-30%) HP:0002858
41 hyperglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003074
42 glycosuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003076
43 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
44 calf muscle hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008981
45 exercise-induced myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003738
46 pili torti 59 32 hallmark (90%) Very frequent (99-80%) HP:0003777
47 sclerosis of hand bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0004054
48 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
49 abnormality of circulating leptin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0004361
50 aortic valve calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004380

MGI Mouse Phenotypes related to Atypical Werner Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 LMNA WRN

Drugs & Therapeutics for Atypical Werner Syndrome

Search Clinical Trials , NIH Clinical Center for Atypical Werner Syndrome

Genetic Tests for Atypical Werner Syndrome

Anatomical Context for Atypical Werner Syndrome

MalaCards organs/tissues related to Atypical Werner Syndrome:

41
Skin, Bone, Breast, Thyroid, Testis, Lung, Heart

Publications for Atypical Werner Syndrome

Articles related to Atypical Werner Syndrome:

# Title Authors Year
1
A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy. ( 27265359 )
2016
2
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation. ( 27539898 )
2016
3
Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome. ( 26122271 )
2015
4
Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome. ( 24401204 )
2014
5
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation. ( 25327215 )
2014
6
DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations. ( 23847654 )
2013
7
Atypical progeroid syndrome due to heterozygous missense LMNA mutations. ( 19875478 )
2009
8
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease. ( 19095983 )
2009
9
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. ( 15060110 )
2004

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:

# 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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