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:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Laminopathy Type Decaudain-Vigouroux:

Name: Laminopathy Type Decaudain-Vigouroux 53
 
Laminopathy with Severe Metabolic Syndrome and Myopathy 53

Characteristics:

Orphanet epidemiological data:

53
laminopathy with severe metabolic syndrome and myopathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

Classifications:



External Ids:

Orphanet53 ORPHA137871
ICD10 via Orphanet30 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 for Laminopathy Type Decaudain-Vigouroux

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Human phenotypes related to Laminopathy Type Decaudain-Vigouroux:

 53 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria53 Frequent (79-30%)
2 polycystic ovaries53 Frequent (79-30%)
3 cataract53 Occasional (29-5%)
4 hypothyroidism53 Frequent (79-30%)
5 hypertension53 Frequent (79-30%)
6 hyperinsulinemic hypoglycemia53 Occasional (29-5%)
7 insulin-resistant diabetes mellitus53 Frequent (79-30%)
8 glucose intolerance53 Very frequent (99-80%)
9 hyperinsulinemia53 Very frequent (99-80%)
10 insulin resistance53 Very frequent (99-80%)
11 acanthosis nigricans53 Occasional (29-5%)
12 hirsutism53 Occasional (29-5%)
13 hepatomegaly53 Frequent (79-30%)
14 obesity53 Frequent (79-30%)
15 dilated cardiomyopathy53 Occasional (29-5%)
16 coronary artery disease53 Occasional (29-5%)
17 abnormal glucose tolerance53 Very frequent (99-80%)
18 arthralgia53 Occasional (29-5%)
19 elevated serum creatine phosphokinase53 Occasional (29-5%)
20 hyperglycemia53 Very frequent (99-80%)
21 glycosuria53 Frequent (79-30%)
22 abnormality of lipid metabolism53 Frequent (79-30%)
23 peripheral neuropathy53 Frequent (79-30%)
24 fasting hypoglycemia53 Occasional (29-5%)
25 myalgia53 Frequent (79-30%)
26 muscle cramps53 Frequent (79-30%)
27 upper limb amyotrophy53 Occasional (29-5%)
28 calf muscle hypertrophy53 Frequent (79-30%)
29 proximal lower limb amyotrophy53 Frequent (79-30%)
30 abnormality of fatty-acid metabolism53 Frequent (79-30%)
31 abnormality of circulating leptin level53 Occasional (29-5%)
32 abnormal oral glucose tolerance53 Very frequent (99-80%)
33 aortic root dilatation53 Frequent (79-30%)
34 type ii diabetes mellitus53 Frequent (79-30%)
35 lower limb amyotrophy53 Occasional (29-5%)
36 fasting hyperinsulinemia53 Very frequent (99-80%)
37 enlarged polycystic ovaries53 Frequent (79-30%)
38 proximal upper limb amyotrophy53 Occasional (29-5%)
39 sleep apnea53 Occasional (29-5%)
40 postprandial hyperglycemia53 Very frequent (99-80%)
41 fatigue53 Frequent (79-30%)
42 increased testosterone53 Frequent (79-30%)
43 fatiguable weakness of proximal limb muscles53 Occasional (29-5%)
44 lipoatrophy53 Occasional (29-5%)
45 enlarged ovaries53 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:

35
Ovary

Animal Models for Laminopathy Type Decaudain-Vigouroux or affiliated genes

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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
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