MCID: ATY016
MIFTS: 26

Atypical Werner Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Atypical Werner Syndrome

About this section
Sources:
24GeneTests, 30ICD10 via Orphanet, 47NIH Rare Diseases, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Atypical Werner Syndrome:

Name: Atypical Werner Syndrome 47 24 53
 
Atypical Progeroid Syndrome 47 53

Characteristics:

Orphanet epidemiological data:

53
atypical werner syndrome:
Inheritance: Autosomal dominant

Classifications:



External Ids:

Orphanet53 ORPHA79474
ICD10 via Orphanet30 E34.8

Summaries for Atypical Werner Syndrome

About this section
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 Array, Array and Array. An important gene associated with Atypical Werner Syndrome is LMNA (Lamin A/C), and among its related pathways is DNA Damage. Affiliated tissues include skin, bone and breast, and related mouse phenotype adipose tissue.

Related Diseases for Atypical Werner Syndrome

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1nestor-guillermo progeria syndrome11.0
2werner syndrome10.0
3hutchinson-gilford progeria9.5LMNA, WRN
4autoimmune hepatitis9.5LMNA, WRN
5pancreatic cystadenoma9.5LMNA, WRN
6alzheimer disease 129.3LMNA, WRN

Graphical network of diseases related to Atypical Werner Syndrome:



Diseases related to atypical werner syndrome

Symptoms for Atypical Werner Syndrome

About this section

Human phenotypes related to Atypical Werner Syndrome:

 53 (show all 90)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the testis53 Very frequent (99-80%)
2 hypogonadism53 Very frequent (99-80%)
3 decreased fertility53 Very frequent (99-80%)
4 thin vermilion border53 Very frequent (99-80%)
5 narrow face53 Very frequent (99-80%)
6 micrognathia53 Very frequent (99-80%)
7 convex nasal ridge53 Very frequent (99-80%)
8 congenital cataract53 Occasional (29-5%)
9 retinal degeneration53 Frequent (79-30%)
10 abnormality of the thorax53 Very frequent (99-80%)
11 diabetes mellitus53 Very frequent (99-80%)
12 hypertension53 Very frequent (99-80%)
13 delayed puberty53 Very frequent (99-80%)
14 insulin-resistant diabetes mellitus53 Very frequent (99-80%)
15 progressive clavicular acroosteolysis53 Very frequent (99-80%)
16 hyperinsulinemia53 Very frequent (99-80%)
17 secondary amenorrhea53 Very frequent (99-80%)
18 chondrocalcinosis53 Very frequent (99-80%)
19 osteoporosis53 Very frequent (99-80%)
20 hyperkeratosis53 Very frequent (99-80%)
21 thin skin53 Very frequent (99-80%)
22 prominent superficial veins53 Very frequent (99-80%)
23 osteolytic defects of the phalanges of the hand53 Very frequent (99-80%)
24 limitation of joint mobility53 Very frequent (99-80%)
25 hip dysplasia53 Occasional (29-5%)
26 hepatic steatosis53 Very frequent (99-80%)
27 failure to thrive53 Very frequent (99-80%)
28 short stature53 Very frequent (99-80%)
29 abnormality of the hair53 Very frequent (99-80%)
30 alopecia53 Very frequent (99-80%)
31 laryngomalacia53 Very frequent (99-80%)
32 abnormality of the voice53 Very frequent (99-80%)
33 mitral valve prolapse53 Occasional (29-5%)
34 congestive heart failure53 Very frequent (99-80%)
35 aortic valve stenosis53 Frequent (79-30%)
36 coronary artery disease53 Very frequent (99-80%)
37 pes planus53 Very frequent (99-80%)
38 fragile nails53 Very frequent (99-80%)
39 rocker bottom foot53 Very frequent (99-80%)
40 hypertriglyceridemia53 Very frequent (99-80%)
41 white forelock53 Very frequent (99-80%)
42 premature graying of hair53 Very frequent (99-80%)
43 sparse body hair53 Very frequent (99-80%)
44 osteosarcoma53 Very frequent (99-80%)
45 meningioma53 Frequent (79-30%)
46 hyperglycemia53 Very frequent (99-80%)
47 glycosuria53 Very frequent (99-80%)
48 skeletal muscle atrophy53 Very frequent (99-80%)
49 calf muscle hypertrophy53 Very frequent (99-80%)
50 exercise-induced myalgia53 Occasional (29-5%)
51 pili torti53 Very frequent (99-80%)
52 sclerosis of hand bone53 Very frequent (99-80%)
53 short palm53 Very frequent (99-80%)
54 decreased body weight53 Very frequent (99-80%)
55 reduced bone mineral density53 Very frequent (99-80%)
56 abnormality of circulating leptin level53 Very frequent (99-80%)
57 aortic valve calcification53 Very frequent (99-80%)
58 abnormality of the pulmonary artery53 Very frequent (99-80%)
59 peripheral arterial disease53 Very frequent (99-80%)
60 abnormality of the achilles tendon53 Very frequent (99-80%)
61 premature arteriosclerosis53 Very frequent (99-80%)
62 progeroid facial appearance53 Very frequent (99-80%)
63 type ii diabetes mellitus53 Very frequent (99-80%)
64 patchy hypo- and hyperpigmentation53 Very frequent (99-80%)
65 prematurely aged appearance53 Very frequent (99-80%)
66 subcutaneous calcification53 Very frequent (99-80%)
67 abnormality of retinal pigmentation53 Very frequent (99-80%)
68 aplasia/hypoplasia of the skin53 Very frequent (99-80%)
69 neoplasm of the skin53 Frequent (79-30%)
70 premature ovarian failure53 Very frequent (99-80%)
71 fasting hyperinsulinemia53 Very frequent (99-80%)
72 intervertebral disc degeneration53 Frequent (79-30%)
73 generalized lipodystrophy53 Very frequent (99-80%)
74 renal neoplasm53 Frequent (79-30%)
75 abnormal hair whorl53 Very frequent (99-80%)
76 increased bone mineral density53 Occasional (29-5%)
77 abnormal hair quantity53 Very frequent (99-80%)
78 finger clinodactyly53 Occasional (29-5%)
79 neoplasm of the breast53 Frequent (79-30%)
80 neoplasm of the thyroid gland53 Frequent (79-30%)
81 neoplasm of the lung53 Frequent (79-30%)
82 lipoatrophy53 Very frequent (99-80%)
83 teleangiectasia of the skin53 Very frequent (99-80%)
84 ovarian neoplasm53 Frequent (79-30%)
85 neoplasm of the oral cavity53 Frequent (79-30%)
86 abnormality of the cerebral vasculature53 Very frequent (99-80%)
87 lack of skin elasticity53 Very frequent (99-80%)
88 neoplasm of the small intestine53 Frequent (79-30%)
89 aplasia/hypoplasia of the eyebrow53 Very frequent (99-80%)
90 skin ulcer53 Very frequent (99-80%)

Drugs & Therapeutics for Atypical Werner Syndrome

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Minocyclineapproved, investigationalPhase 322410118-90-85281021
Synonyms:
(2Z,4S,4aS,5aR,12aS)-2-[amino(hydroxy)methylidene]-4,7-bis(dimethylamino)-10,11,12a-trihydroxy-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AS,5AR,12AS)-4,7-BIS(DIMETHYLAMINO)-3,10,12,12A-TETRAHYDROXY-1,11-DIOXO-1,4,4A,5,5A,6,11,12A-OCTAHYDROTETRACENE-2-CARBOXAMIDE
(4S,4AS,5ar,12as)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10118-90-8
13614-98-7 (mono-hydrochloride)
4,7-Bis(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,10,12,12a-tetrahydroxy-1,11-dioxo-2-naphthacenecarboxamide
4708-96-7
7-Dimethylamino-6-demethyl-6-deoxytetracycline
AC1NQXWM
BRN 3077644
Bio-0062
Borymycin
C07225
C23H27N3O7
CHEBI:50694
CHEBI:529981
CHEMBL1434
CHEMBL259172
CID5281021
CL 59806
CRL-1605 & Minocycline
D05045
HMS2090D03
HSDB 3130
 
LMPK07000002
LS-93850
Lactoferrin B & Minocycline
Lactoferrin H & Minocycline
MINO
MIY
Minociclina
Minociclina [INN-Spanish]
Minociclinum
Minocin
Minocin (Hydrochloride)
Minocline
Minocyclin
Minocycline (USAN/INN)
Minocycline Monohydrochloride
Minocycline [USAN:BAN:INN]
Minocyclinum
Minocyclinum [INN-Latin]
NCGC00178854-01
NSC 141993
NSC141993
UNII-FYY3R43WGO
Vectrin (Hydrochloride)
minociclinum
minocycline
nchembio.559-comp1
2Anti-Infective AgentsPhase 321402
3Anti-Bacterial AgentsPhase 310884

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study About Efficacy and Safety to Treat Multi-System-AtrophyCompletedNCT00146809Phase 3

Search NIH Clinical Center for Atypical Werner Syndrome

Genetic Tests for Atypical Werner Syndrome

About this section

Genetic tests related to Atypical Werner Syndrome:

id Genetic test Affiliating Genes
1 Atypical Werner Syndrome24 LMNA

Anatomical Context for Atypical Werner Syndrome

About this section

MalaCards organs/tissues related to Atypical Werner Syndrome:

35
Skin, Bone, Breast, Thyroid, Testis, Lung, Heart

Animal Models for Atypical Werner Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Atypical Werner Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1LMNA, WRN

Publications for Atypical Werner Syndrome

About this section

Articles related to Atypical Werner Syndrome:

idTitleAuthorsYear
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

About this section

Expression for genes affiliated with Atypical Werner Syndrome

About this section
Search GEO for disease gene expression data for Atypical Werner Syndrome.

Pathways for genes affiliated with Atypical Werner Syndrome

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.1LMNA, WRN

GO Terms for genes affiliated with Atypical Werner Syndrome

About this section

Sources for Atypical Werner Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet