MCID: LMN004
MIFTS: 12

Laminopathy Type Decaudain-Vigouroux malady

Categories: Endocrine diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Laminopathy Type Decaudain-Vigouroux

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Laminopathy Type Decaudain-Vigouroux:

Name: Laminopathy Type Decaudain-Vigouroux 54
 
Laminopathy with Severe Metabolic Syndrome and Myopathy 54

Characteristics:

Orphanet epidemiological data:

54
laminopathy with severe metabolic syndrome and myopathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

Classifications:



External Ids:

Orphanet54 ORPHA137871
ICD10 via Orphanet31 E88.8

Summaries for Laminopathy Type Decaudain-Vigouroux

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MalaCards based summary: Laminopathy Type Decaudain-Vigouroux, is also known as laminopathy with severe metabolic syndrome and myopathy, and has symptoms including Array, Array and Array. An important gene associated with Laminopathy Type Decaudain-Vigouroux is LMNA (Lamin A/C). Affiliated tissues include ovary.

Related Diseases for Laminopathy Type Decaudain-Vigouroux

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Symptoms & Phenotypes for Laminopathy Type Decaudain-Vigouroux

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Human phenotypes related to Laminopathy Type Decaudain-Vigouroux:

 54 64 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria64 54 Frequent (79-30%) HP:0000093
2 polycystic ovaries54 Frequent (79-30%)
3 cataract64 54 Occasional (29-5%) HP:0000518
4 hypothyroidism64 54 Frequent (79-30%) HP:0000821
5 hypertension64 54 Frequent (79-30%) HP:0000822
6 hyperinsulinemic hypoglycemia64 54 Occasional (29-5%) HP:0000825
7 insulin-resistant diabetes mellitus64 54 Frequent (79-30%) HP:0000831
8 glucose intolerance64 54 Very frequent (99-80%) HP:0000833
9 hyperinsulinemia54 Very frequent (99-80%)
10 insulin resistance54 Very frequent (99-80%)
11 acanthosis nigricans64 54 Occasional (29-5%) HP:0000956
12 hirsutism64 54 Occasional (29-5%) HP:0001007
13 hepatomegaly64 54 Frequent (79-30%) HP:0002240
14 obesity64 54 Frequent (79-30%) HP:0001513
15 dilated cardiomyopathy64 54 Occasional (29-5%) HP:0001644
16 coronary artery disease64 54 Occasional (29-5%) HP:0001677
17 abnormal glucose tolerance54 Very frequent (99-80%)
18 arthralgia64 54 Occasional (29-5%) HP:0002829
19 elevated serum creatine phosphokinase64 54 Occasional (29-5%) HP:0003236
20 hyperglycemia54 Very frequent (99-80%)
21 glycosuria64 54 Frequent (79-30%) HP:0003076
22 abnormality of lipid metabolism54 Frequent (79-30%)
23 peripheral neuropathy64 54 Frequent (79-30%) HP:0009830
24 fasting hypoglycemia64 54 Occasional (29-5%) HP:0003162
25 myalgia64 54 Frequent (79-30%) HP:0003326
26 muscle cramps64 54 Frequent (79-30%) HP:0003394
27 upper limb amyotrophy64 54 Occasional (29-5%) HP:0009129
28 calf muscle hypertrophy64 54 Frequent (79-30%) HP:0008981
29 proximal lower limb amyotrophy64 54 Frequent (79-30%) HP:0008956
30 abnormality of fatty-acid metabolism64 54 Frequent (79-30%) HP:0004359
31 abnormality of circulating leptin level64 54 Occasional (29-5%) HP:0004361
32 abnormal oral glucose tolerance64 54 Very frequent (99-80%) HP:0004924
33 aortic root dilatation64 54 Frequent (79-30%) HP:0002616
34 type ii diabetes mellitus64 54 Frequent (79-30%) HP:0005978
35 lower limb amyotrophy64 54 Occasional (29-5%) HP:0007210
36 fasting hyperinsulinemia64 54 Very frequent (99-80%) HP:0008283
37 enlarged polycystic ovaries64 54 Frequent (79-30%) HP:0008675
38 proximal upper limb amyotrophy64 54 Occasional (29-5%) HP:0008948
39 sleep apnea64 54 Occasional (29-5%) HP:0010535
40 postprandial hyperglycemia64 54 Very frequent (99-80%) HP:0011998
41 fatigue64 54 Frequent (79-30%) HP:0012378
42 increased testosterone54 Frequent (79-30%)
43 fatiguable weakness of proximal limb muscles64 54 Occasional (29-5%) HP:0030200
44 lipoatrophy64 54 Occasional (29-5%) HP:0100578
45 enlarged ovaries54 Frequent (79-30%)
46 increased serum testosterone level64 HP:0030088

Drugs & Therapeutics for Laminopathy Type Decaudain-Vigouroux

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Laminopathy Type Decaudain-Vigouroux

Genetic Tests for Laminopathy Type Decaudain-Vigouroux

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Anatomical Context for Laminopathy Type Decaudain-Vigouroux

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MalaCards organs/tissues related to Laminopathy Type Decaudain-Vigouroux:

36
Ovary

Publications for Laminopathy Type Decaudain-Vigouroux

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Variations for Laminopathy Type Decaudain-Vigouroux

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Expression for genes affiliated with Laminopathy Type Decaudain-Vigouroux

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Search GEO for disease gene expression data for Laminopathy Type Decaudain-Vigouroux.

Pathways for genes affiliated with Laminopathy Type Decaudain-Vigouroux

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GO Terms for genes affiliated with Laminopathy Type Decaudain-Vigouroux

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Sources for Laminopathy Type Decaudain-Vigouroux

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet