MCID: ATS285
MIFTS: 16

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 60

Characteristics:

Orphanet epidemiological data:

60
autosomal semi-dominant severe lipodystrophic laminopathy
Inheritance: Semi-dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



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 skin, heart and ovary, 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:

60 33 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000819
2 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
3 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100578
4 hypertriglyceridemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002155
5 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
6 premature graying of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002216
7 insulin resistance 60 33 hallmark (90%) Very frequent (99-80%) HP:0000855
8 xanthomatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000991
9 progeroid facial appearance 60 33 hallmark (90%) Very frequent (99-80%) HP:0005328
10 narrow nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000418
11 minimal subcutaneous fat 60 33 hallmark (90%) Very frequent (99-80%) HP:0003717
12 abnormality of the nail 60 33 frequent (33%) Frequent (79-30%) HP:0001597
13 acanthosis nigricans 60 33 frequent (33%) Frequent (79-30%) HP:0000956
14 thin skin 60 33 frequent (33%) Frequent (79-30%) HP:0000963
15 secondary amenorrhea 60 33 frequent (33%) Frequent (79-30%) HP:0000869
16 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397
17 polycystic ovaries 60 33 frequent (33%) Frequent (79-30%) HP:0000147
18 round face 60 33 frequent (33%) Frequent (79-30%) HP:0000311
19 advanced eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0006288
20 decreased serum leptin 60 33 frequent (33%) Frequent (79-30%) HP:0003292
21 precocious atherosclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0004416
22 muscle hypertrophy of the lower extremities 60 33 frequent (33%) Frequent (79-30%) HP:0008968
23 loss of subcutaneous adipose tissue in limbs 60 33 frequent (33%) Frequent (79-30%) HP:0003635
24 increased adipose tissue around the neck 60 33 frequent (33%) Frequent (79-30%) HP:0000468
25 acroosteolysis of distal phalanges (feet) 60 33 frequent (33%) Frequent (79-30%) HP:0001870
26 increased intraabdominal fat 60 33 frequent (33%) Frequent (79-30%) HP:0008993
27 osteolytic defects of the phalanges of the hand 60 33 frequent (33%) Frequent (79-30%) HP:0009771
28 proximal upper limb muscle hypertrophy 60 33 frequent (33%) Frequent (79-30%) HP:0040266
29 increased facial adipose tissue 60 33 frequent (33%) Frequent (79-30%) HP:0000287
30 accelerated atherosclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0004943
31 decreased adiponectin level 60 33 frequent (33%) Frequent (79-30%) HP:0030685
32 decreased hdl cholesterol concentration 33 frequent (33%) HP:0003233
33 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
34 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198
35 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
36 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
37 generalized hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002230
38 supraventricular arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0005115
39 pancreatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001733
40 myalgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003326
41 abnormal atrioventricular conduction 60 33 occasional (7.5%) Occasional (29-5%) HP:0005150
42 dysmenorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0100607
43 coronary artery atherosclerosis 33 occasional (7.5%) HP:0001677
44 ventricular arrhythmia 60 33 very rare (1%) Very rare (<4-1%) HP:0004308
45 lipodystrophy 60 Very frequent (99-80%)
46 aplasia/hypoplasia of the skin 60 Very frequent (99-80%)
47 skeletal muscle hypertrophy 60 Very frequent (99-80%)
48 atherosclerosis 60 Frequent (79-30%)
49 coronary artery disease 60 Occasional (29-5%)
50 reduced subcutaneous adipose tissue 60 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:

42
Skin, Heart, Ovary, 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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