MCID: LMN004
MIFTS: 12

Laminopathy Type Decaudain-Vigouroux malady

Categories: Endocrine diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Laminopathy Type Decaudain-Vigouroux

Aliases & Descriptions for Laminopathy Type Decaudain-Vigouroux:

Name: Laminopathy Type Decaudain-Vigouroux 56
Laminopathy with Severe Metabolic Syndrome and Myopathy 56

Characteristics:

Orphanet epidemiological data:

56
laminopathy type decaudain-vigouroux
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

Orphanet 56 ORPHA137871
ICD10 via Orphanet 34 E88.8

Summaries for Laminopathy Type Decaudain-Vigouroux

MalaCards based summary : Laminopathy Type Decaudain-Vigouroux, is also known as laminopathy with severe metabolic syndrome and myopathy, and has symptoms including proteinuria, cataract and hypothyroidism. 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

Symptoms & Phenotypes for Laminopathy Type Decaudain-Vigouroux

Human phenotypes related to Laminopathy Type Decaudain-Vigouroux:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 56 32 Frequent (79-30%) HP:0000093
2 cataract 56 32 Occasional (29-5%) HP:0000518
3 hypothyroidism 56 32 Frequent (79-30%) HP:0000821
4 hypertension 56 32 Frequent (79-30%) HP:0000822
5 hyperinsulinemic hypoglycemia 56 32 Occasional (29-5%) HP:0000825
6 insulin-resistant diabetes mellitus 56 32 Frequent (79-30%) HP:0000831
7 glucose intolerance 56 32 Very frequent (99-80%) HP:0000833
8 acanthosis nigricans 56 32 Occasional (29-5%) HP:0000956
9 hirsutism 56 32 Occasional (29-5%) HP:0001007
10 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
11 obesity 56 32 Frequent (79-30%) HP:0001513
12 dilated cardiomyopathy 56 32 Occasional (29-5%) HP:0001644
13 coronary artery disease 56 32 Occasional (29-5%) HP:0001677
14 arthralgia 56 32 Occasional (29-5%) HP:0002829
15 elevated serum creatine phosphokinase 56 32 Occasional (29-5%) HP:0003236
16 glycosuria 56 32 Frequent (79-30%) HP:0003076
17 peripheral neuropathy 56 32 Frequent (79-30%) HP:0009830
18 fasting hypoglycemia 56 32 Occasional (29-5%) HP:0003162
19 myalgia 56 32 Frequent (79-30%) HP:0003326
20 muscle cramps 56 32 Frequent (79-30%) HP:0003394
21 upper limb amyotrophy 56 32 Occasional (29-5%) HP:0009129
22 calf muscle hypertrophy 56 32 Frequent (79-30%) HP:0008981
23 proximal lower limb amyotrophy 56 32 Frequent (79-30%) HP:0008956
24 abnormality of fatty-acid metabolism 56 32 Frequent (79-30%) HP:0004359
25 abnormality of circulating leptin level 56 32 Occasional (29-5%) HP:0004361
26 abnormal oral glucose tolerance 56 32 Very frequent (99-80%) HP:0004924
27 aortic root dilatation 56 32 Frequent (79-30%) HP:0002616
28 type ii diabetes mellitus 56 32 Frequent (79-30%) HP:0005978
29 lower limb amyotrophy 56 32 Occasional (29-5%) HP:0007210
30 fasting hyperinsulinemia 56 32 Very frequent (99-80%) HP:0008283
31 enlarged polycystic ovaries 56 32 Frequent (79-30%) HP:0008675
32 proximal upper limb amyotrophy 56 32 Occasional (29-5%) HP:0008948
33 sleep apnea 56 32 Occasional (29-5%) HP:0010535
34 postprandial hyperglycemia 56 32 Very frequent (99-80%) HP:0011998
35 fatigue 56 32 Frequent (79-30%) HP:0012378
36 fatiguable weakness of proximal limb muscles 56 32 Occasional (29-5%) HP:0030200
37 lipoatrophy 56 32 Occasional (29-5%) HP:0100578
38 polycystic ovaries 56 Frequent (79-30%)
39 hyperinsulinemia 56 Very frequent (99-80%)
40 insulin resistance 56 Very frequent (99-80%)
41 abnormal glucose tolerance 56 Very frequent (99-80%)
42 hyperglycemia 56 Very frequent (99-80%)
43 abnormality of lipid metabolism 56 Frequent (79-30%)
44 increased testosterone 56 Frequent (79-30%)
45 enlarged ovaries 56 Frequent (79-30%)
46 increased serum testosterone level 32 HP:0030088

Drugs & Therapeutics for Laminopathy Type Decaudain-Vigouroux

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

Genetic Tests for Laminopathy Type Decaudain-Vigouroux

Anatomical Context for Laminopathy Type Decaudain-Vigouroux

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

39
Ovary

Publications for Laminopathy Type Decaudain-Vigouroux

Variations for Laminopathy Type Decaudain-Vigouroux

Expression for Laminopathy Type Decaudain-Vigouroux

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

Pathways for Laminopathy Type Decaudain-Vigouroux

GO Terms for Laminopathy Type Decaudain-Vigouroux

Sources for Laminopathy Type Decaudain-Vigouroux

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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