MCID: ATS285
MIFTS: 17

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 59

Characteristics:

Orphanet epidemiological data:

59
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 splenomegaly

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:

59 32 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000819
2 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
3 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
5 abnormality of the nail 59 32 frequent (33%) Frequent (79-30%) HP:0001597
6 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
7 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
8 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
9 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
10 acanthosis nigricans 59 32 frequent (33%) Frequent (79-30%) HP:0000956
11 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
12 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
13 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
14 secondary amenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000869
15 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
16 supraventricular arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005115
17 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
18 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
19 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
20 polycystic ovaries 59 32 frequent (33%) Frequent (79-30%) HP:0000147
21 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
22 advanced eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0006288
23 abnormal atrioventricular conduction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005150
24 dysmenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0100607
25 decreased serum leptin 59 32 frequent (33%) Frequent (79-30%) HP:0003292
26 insulin resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0000855
27 xanthomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000991
28 precocious atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0004416
29 progeroid facial appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0005328
30 muscle hypertrophy of the lower extremities 59 32 frequent (33%) Frequent (79-30%) HP:0008968
31 loss of subcutaneous adipose tissue in limbs 59 32 frequent (33%) Frequent (79-30%) HP:0003635
32 increased adipose tissue around the neck 59 32 frequent (33%) Frequent (79-30%) HP:0000468
33 acroosteolysis of distal phalanges (feet) 59 32 frequent (33%) Frequent (79-30%) HP:0001870
34 increased intraabdominal fat 59 32 frequent (33%) Frequent (79-30%) HP:0008993
35 osteolytic defects of the phalanges of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0009771
36 ventricular arrhythmia 59 32 very rare (1%) Very rare (<4-1%) HP:0004308
37 narrow nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000418
38 minimal subcutaneous fat 59 32 hallmark (90%) Very frequent (99-80%) HP:0003717
39 increased facial adipose tissue 59 32 frequent (33%) Frequent (79-30%) HP:0000287
40 accelerated atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0004943
41 decreased adiponectin level 59 32 frequent (33%) Frequent (79-30%) HP:0030685
42 proximal upper limb muscle hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0040266
43 lipodystrophy 59 Very frequent (99-80%)
44 aplasia/hypoplasia of the skin 59 Very frequent (99-80%)
45 skeletal muscle hypertrophy 59 Very frequent (99-80%)
46 atherosclerosis 59 Frequent (79-30%)
47 coronary artery disease 59 Occasional (29-5%)
48 reduced subcutaneous adipose tissue 59 Very frequent (99-80%)
49 hypoalphalipoproteinemia 59 Frequent (79-30%)
50 coronary artery atherosclerosis 32 occasional (7.5%) HP:0001677

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:

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....