MCID: ATY016
MIFTS: 31

Atypical Werner Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Atypical Werner Syndrome

Summaries for Atypical Werner Syndrome

NIH Rare Diseases : 54 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 lung, and related phenotypes are hypertension and failure to thrive

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 30.1 LMNA WRN
2 nestor-guillermo progeria syndrome 11.3
3 ruijs-aalfs syndrome 9.9
4 acquired generalized lipodystrophy 9.7 LMNA WRN
5 hutchinson-gilford progeria syndrome 9.7 LMNA WRN
6 autosomal genetic disease 9.7 LMNA WRN
7 aging 9.6 LMNA WRN
8 fanconi anemia, complementation group a 9.5 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:

60 33 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 60 33 hallmark (90%) Very frequent (99-80%) HP:0000822
2 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
3 type ii diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0005978
4 pes planus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001763
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
7 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823
8 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
9 laryngomalacia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001601
10 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100578
11 hypertriglyceridemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002155
12 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
13 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
14 hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000962
15 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
16 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
17 congestive heart failure 60 33 hallmark (90%) Very frequent (99-80%) HP:0001635
18 lack of skin elasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0100679
19 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
20 premature ovarian insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0008209
21 secondary amenorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000869
22 hepatic steatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001397
23 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
24 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
25 hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000135
26 premature graying of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002216
27 telangiectasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0100585
28 abnormality of the cerebral vasculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0100659
29 narrow face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000275
30 abnormality of the voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001608
31 decreased fertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000144
32 fasting hyperinsulinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008283
33 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
34 thin vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0000233
35 sparse body hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002231
36 aplasia/hypoplasia of the eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0100840
37 osteosarcoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002669
38 white forelock 60 33 hallmark (90%) Very frequent (99-80%) HP:0002211
39 abnormality of the pulmonary artery 60 33 hallmark (90%) Very frequent (99-80%) HP:0004414
40 chondrocalcinosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000934
41 calf muscle hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008981
42 aortic valve calcification 60 33 hallmark (90%) Very frequent (99-80%) HP:0004380
43 rocker bottom foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001838
44 insulin-resistant diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000831
45 prominent superficial veins 60 33 hallmark (90%) Very frequent (99-80%) HP:0001015
46 glycosuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003076
47 abnormality of the achilles tendon 60 33 hallmark (90%) Very frequent (99-80%) HP:0005109
48 fragile nails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001808
49 pili torti 60 33 hallmark (90%) Very frequent (99-80%) HP:0003777
50 abnormal hair whorl 60 33 hallmark (90%) Very frequent (99-80%) HP:0010721

MGI Mouse Phenotypes related to Atypical Werner Syndrome:

47
# 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:

42
Skin, Bone, Lung, Heart, Skeletal Muscle, Thyroid, Small Intestine

Publications for Atypical Werner Syndrome

Articles related to Atypical Werner Syndrome:

# Title Authors Year
1
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA. ( 30123186 )
2018
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
A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy. ( 27265359 )
2016
4
Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome. ( 26122271 )
2015
5
Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome. ( 24401204 )
2014
6
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation. ( 25327215 )
2014
7
DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations. ( 23847654 )
2013
8
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease. ( 19095983 )
2009
9
Atypical progeroid syndrome due to heterozygous missense LMNA mutations. ( 19875478 )
2009
10
Atypical progeroid syndrome: an unknown helicase gene defect? ( 12503110 )
2003

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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