MCID: ATY016
MIFTS: 29

Atypical Werner Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Atypical Werner Syndrome

Summaries for Atypical Werner Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79474 Definition An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. 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. Epidemiology The prevalence is unknown. Clinical description Atypical 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. Etiology A 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.

MalaCards based summary : Atypical Werner Syndrome, also known as atypical progeroid syndrome, is related to nestor-guillermo progeria syndrome and werner syndrome. An important gene associated with Atypical Werner Syndrome is LMNA (Lamin A/C). Affiliated tissues include bone, heart and skeletal muscle, and related phenotypes are failure to thrive and hypertension

Related Diseases for Atypical Werner Syndrome

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:

58 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
3 type ii diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005978
4 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
7 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
8 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
9 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
10 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
11 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
12 congestive heart failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001635
13 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
14 premature ovarian insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008209
15 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
16 secondary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000869
17 hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001397
18 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
19 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
20 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
21 narrow face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000275
22 abnormal testis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000035
23 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
24 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
25 laryngomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001601
26 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
27 osteosarcoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002669
28 abnormality of the cerebral vasculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0100659
29 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
30 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
31 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
32 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
33 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
34 white forelock 58 31 hallmark (90%) Very frequent (99-80%) HP:0002211
35 abnormality of the pulmonary artery 58 31 hallmark (90%) Very frequent (99-80%) HP:0004414
36 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
37 chondrocalcinosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000934
38 aortic valve calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004380
39 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
40 rocker bottom foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001838
41 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
42 calf muscle hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008981
43 pili torti 58 31 hallmark (90%) Very frequent (99-80%) HP:0003777
44 fragile nails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001808
45 abnormal hair whorl 58 31 hallmark (90%) Very frequent (99-80%) HP:0010721
46 subcutaneous calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0007618
47 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
48 abnormality of the achilles tendon 58 31 hallmark (90%) Very frequent (99-80%) HP:0005109
49 hyperglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003074
50 glycosuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003076

Drugs & Therapeutics for Atypical Werner Syndrome

Search Clinical Trials , NIH Clinical Center for Atypical Werner Syndrome

Genetic Tests for Atypical Werner Syndrome

Genetic tests related to Atypical Werner Syndrome:

# Genetic test Affiliating Genes
1 Atypical Werner Syndrome 29

Anatomical Context for Atypical Werner Syndrome

MalaCards organs/tissues related to Atypical Werner Syndrome:

40
Bone, Heart, Skeletal Muscle, Small Intestine, Lung, Thyroid, Breast

Publications for Atypical Werner Syndrome

Articles related to Atypical Werner Syndrome:

(show all 36)
# Title Authors PMID Year
1
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant. 61
32939435 2020
2
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation. 61
32913962 2020
3
Lamin A involvement in ageing processes. 61
32446955 2020
4
Atypical Werner Syndrome: Another Scleroderma-Like Fibrosing Disorder. 61
32732526 2020
5
Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report. 61
31807803 2020
6
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice. 61
32245113 2020
7
A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles. 61
31708526 2020
8
Diffuse, mottled hyperpigmentation and mutations in LMNA gene in a 5-year-old boy, his mother, and his grandmother: Atypical progeroid syndrome. 61
31378009 2019
9
Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review. 61
31270292 2019
10
Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts. 61
29581305 2018
11
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. 61
29267953 2018
12
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene. 61
29199204 2018
13
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA. 61
30123186 2018
14
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis. 61
29610677 2018
15
Progerin impairs vascular smooth muscle cell growth via the DNA damage response pathway. 61
28423660 2017
16
A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy. 61
27265359 2016
17
POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies. 61
27320729 2016
18
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation. 61
27539898 2016
19
Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome. 61
26122271 2015
20
Skin Disease in Laminopathy-Associated Premature Aging. 61
26290387 2015
21
Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience. 61
25367549 2015
22
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation. 61
25327215 2014
23
p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities. 61
24861648 2014
24
Oxidative stress and antioxidant response in fibroblasts from Werner and atypical Werner syndromes. 61
24799429 2014
25
Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome. 61
24401204 2014
26
DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations. 61
23847654 2013
27
An inherited LMNA gene mutation in atypical Progeria syndrome. 61
22991222 2012
28
Generation of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C. 61
21483033 2011
29
[Atypical Werner syndrome: Atypical progeroid syndrome: A case report]. 61
20452840 2010
30
Atypical progeroid syndrome due to heterozygous missense LMNA mutations. 61
19875478 2009
31
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 61
19283854 2009
32
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease. 61
19095983 2009
33
Nuclear deformation characterizes Werner syndrome cells. 61
16314120 2005
34
Age-related changes of nuclear architecture in Caenorhabditis elegans. 61
16269543 2005
35
Atypical progeroid syndrome: an unknown helicase gene defect? 61
12503110 2003
36
Elevation of urinary hyaluronic acid in Werner's syndrome and progeria. 61
3801210 1986

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

GO Terms for Atypical Werner Syndrome

Sources for Atypical Werner Syndrome

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