MCID: LMN004
MIFTS: 11

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 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria54 Frequent (79-30%)
2 polycystic ovaries54 Frequent (79-30%)
3 cataract54 Occasional (29-5%)
4 hypothyroidism54 Frequent (79-30%)
5 hypertension54 Frequent (79-30%)
6 hyperinsulinemic hypoglycemia54 Occasional (29-5%)
7 insulin-resistant diabetes mellitus54 Frequent (79-30%)
8 glucose intolerance54 Very frequent (99-80%)
9 hyperinsulinemia54 Very frequent (99-80%)
10 insulin resistance54 Very frequent (99-80%)
11 acanthosis nigricans54 Occasional (29-5%)
12 hirsutism54 Occasional (29-5%)
13 hepatomegaly54 Frequent (79-30%)
14 obesity54 Frequent (79-30%)
15 dilated cardiomyopathy54 Occasional (29-5%)
16 coronary artery disease54 Occasional (29-5%)
17 abnormal glucose tolerance54 Very frequent (99-80%)
18 arthralgia54 Occasional (29-5%)
19 elevated serum creatine phosphokinase54 Occasional (29-5%)
20 hyperglycemia54 Very frequent (99-80%)
21 glycosuria54 Frequent (79-30%)
22 abnormality of lipid metabolism54 Frequent (79-30%)
23 peripheral neuropathy54 Frequent (79-30%)
24 fasting hypoglycemia54 Occasional (29-5%)
25 myalgia54 Frequent (79-30%)
26 muscle cramps54 Frequent (79-30%)
27 upper limb amyotrophy54 Occasional (29-5%)
28 calf muscle hypertrophy54 Frequent (79-30%)
29 proximal lower limb amyotrophy54 Frequent (79-30%)
30 abnormality of fatty-acid metabolism54 Frequent (79-30%)
31 abnormality of circulating leptin level54 Occasional (29-5%)
32 abnormal oral glucose tolerance54 Very frequent (99-80%)
33 aortic root dilatation54 Frequent (79-30%)
34 type ii diabetes mellitus54 Frequent (79-30%)
35 lower limb amyotrophy54 Occasional (29-5%)
36 fasting hyperinsulinemia54 Very frequent (99-80%)
37 enlarged polycystic ovaries54 Frequent (79-30%)
38 proximal upper limb amyotrophy54 Occasional (29-5%)
39 sleep apnea54 Occasional (29-5%)
40 postprandial hyperglycemia54 Very frequent (99-80%)
41 fatigue54 Frequent (79-30%)
42 increased testosterone54 Frequent (79-30%)
43 fatiguable weakness of proximal limb muscles54 Occasional (29-5%)
44 lipoatrophy54 Occasional (29-5%)
45 enlarged ovaries54 Frequent (79-30%)

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