MCID: ATS285
MIFTS: 17

Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

Categories: Skin diseases, Endocrine diseases, Rare 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, ovary and skeletal muscle, and related phenotypes are micrognathia and narrow nasal ridge

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

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
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