MCID: ATS285
MIFTS: 14

Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

Categories: Endocrine diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

MalaCards integrated aliases for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy:

Name: Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 58

Characteristics:

Orphanet epidemiological data:

58
autosomal semi-dominant severe lipodystrophic laminopathy
Inheritance: Semi-dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


Summaries for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

MalaCards based summary : Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy An important gene associated with Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy is LMNA (Lamin A/C). Affiliated tissues include heart and skeletal muscle, and related phenotypes are diabetes mellitus and hepatomegaly

Related Diseases for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

Symptoms & Phenotypes for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

Human phenotypes related to Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000819
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
4 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
7 insulin resistance 58 31 hallmark (90%) Very frequent (99-80%) HP:0000855
8 xanthomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000991
9 progeroid facial appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0005328
10 narrow nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000418
11 minimal subcutaneous fat 58 31 hallmark (90%) Very frequent (99-80%) HP:0003717
12 abnormality of the nail 58 31 frequent (33%) Frequent (79-30%) HP:0001597
13 secondary amenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000869
14 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
15 polycystic ovaries 58 31 frequent (33%) Frequent (79-30%) HP:0000147
16 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
17 acanthosis nigricans 58 31 frequent (33%) Frequent (79-30%) HP:0000956
18 advanced eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006288
19 decreased hdl cholesterol concentration 58 31 frequent (33%) Frequent (79-30%) HP:0003233
20 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
21 loss of subcutaneous adipose tissue in limbs 58 31 frequent (33%) Frequent (79-30%) HP:0003635
22 acroosteolysis of distal phalanges (feet) 58 31 frequent (33%) Frequent (79-30%) HP:0001870
23 increased intraabdominal fat 58 31 frequent (33%) Frequent (79-30%) HP:0008993
24 osteolytic defects of the phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009771
25 muscle hypertrophy of the lower extremities 58 31 frequent (33%) Frequent (79-30%) HP:0008968
26 precocious atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0004416
27 decreased serum leptin 58 31 frequent (33%) Frequent (79-30%) HP:0003292
28 increased adipose tissue around the neck 58 31 frequent (33%) Frequent (79-30%) HP:0000468
29 decreased adiponectin level 58 31 frequent (33%) Frequent (79-30%) HP:0030685
30 accelerated atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0004943
31 increased facial adipose tissue 58 31 frequent (33%) Frequent (79-30%) HP:0000287
32 proximal upper limb muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0040266
33 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
34 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
35 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
36 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
37 supraventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005115
38 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
39 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
40 dysmenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0100607
41 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
42 abnormal atrioventricular conduction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005150
43 coronary artery atherosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001677
44 ventricular arrhythmia 58 31 very rare (1%) Very rare (<4-1%) HP:0004308
45 lipodystrophy 58 Very frequent (99-80%)
46 aplasia/hypoplasia of the skin 58 Very frequent (99-80%)
47 skeletal muscle hypertrophy 58 Very frequent (99-80%)
48 atherosclerosis 58 Frequent (79-30%)
49 reduced subcutaneous adipose tissue 58 Very frequent (99-80%)

Drugs & Therapeutics for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

Search Clinical Trials , NIH Clinical Center for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

Genetic Tests for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

Anatomical Context for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

MalaCards organs/tissues related to Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy:

40
Heart, Skeletal Muscle

Publications for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

Variations for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

Expression for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

Search GEO for disease gene expression data for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy.

Pathways for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

GO Terms for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

Sources for Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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