MCID: LMN005
MIFTS: 20

Lmna-Related Cardiocutaneous Progeria Syndrome

Categories: Skin diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Lmna-Related Cardiocutaneous Progeria Syndrome

MalaCards integrated aliases for Lmna-Related Cardiocutaneous Progeria Syndrome:

Name: Lmna-Related Cardiocutaneous Progeria Syndrome 59
Lcps 59

Characteristics:

Orphanet epidemiological data:

59
lmna-related cardiocutaneous progeria syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Lmna-Related Cardiocutaneous Progeria Syndrome

MalaCards based summary : Lmna-Related Cardiocutaneous Progeria Syndrome, also known as lcps, is related to legg-calve-perthes disease and pancreatic cancer. An important gene associated with Lmna-Related Cardiocutaneous Progeria Syndrome is LMNA (Lamin A/C). Affiliated tissues include skin and heart, and related phenotypes are absent eyelashes and hypertension

Related Diseases for Lmna-Related Cardiocutaneous Progeria Syndrome

Diseases related to Lmna-Related Cardiocutaneous Progeria Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 legg-calve-perthes disease 11.3
2 pancreatic cancer 9.8
3 lymphoma 9.8
4 myopia 9.8
5 central nervous system lymphoma 9.8
6 neuromuscular disease 9.8
7 pancreatitis 9.8
8 primary central nervous system lymphoma 9.8

Graphical network of the top 20 diseases related to Lmna-Related Cardiocutaneous Progeria Syndrome:



Diseases related to Lmna-Related Cardiocutaneous Progeria Syndrome

Symptoms & Phenotypes for Lmna-Related Cardiocutaneous Progeria Syndrome

Human phenotypes related to Lmna-Related Cardiocutaneous Progeria Syndrome:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absent eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000561
2 hypertension 59 32 hallmark (90%) Very frequent (99-80%) HP:0000822
3 congestive heart failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001635
4 aortic valve stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001650
5 mitral regurgitation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001653
6 ventricular hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001714
7 emphysema 59 32 hallmark (90%) Very frequent (99-80%) HP:0002097
8 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
9 intracranial hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002170
10 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
11 absent eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002223
12 alopecia universalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002289
13 basal cell carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002671
14 hypercholesterolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003124
15 mitral valve calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004382
16 abnormality of the pulmonary artery 59 32 hallmark (90%) Very frequent (99-80%) HP:0004414
17 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
18 squamous cell carcinoma of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0006739
19 papillary renal cell carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006766
20 abnormality of the intrahepatic bile duct 59 32 hallmark (90%) Very frequent (99-80%) HP:0011040
21 aortic atherosclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0012397
22 pulmonary carcinoid tumor 59 32 hallmark (90%) Very frequent (99-80%) HP:0030445
23 scleroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100324
24 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
25 premature skin wrinkling 59 32 hallmark (90%) Very frequent (99-80%) HP:0100678
26 aortic root dilatation 59 Very frequent (99-80%)
27 coronary atherosclerosis 59 Very frequent (99-80%)
28 coronary artery atherosclerosis 32 hallmark (90%) HP:0001677
29 aortic root aneurysm 32 hallmark (90%) HP:0002616

Drugs & Therapeutics for Lmna-Related Cardiocutaneous Progeria Syndrome

Search Clinical Trials , NIH Clinical Center for Lmna-Related Cardiocutaneous Progeria Syndrome

Genetic Tests for Lmna-Related Cardiocutaneous Progeria Syndrome

Anatomical Context for Lmna-Related Cardiocutaneous Progeria Syndrome

MalaCards organs/tissues related to Lmna-Related Cardiocutaneous Progeria Syndrome:

41
Skin, Heart

Publications for Lmna-Related Cardiocutaneous Progeria Syndrome

Variations for Lmna-Related Cardiocutaneous Progeria Syndrome

Expression for Lmna-Related Cardiocutaneous Progeria Syndrome

Search GEO for disease gene expression data for Lmna-Related Cardiocutaneous Progeria Syndrome.

Pathways for Lmna-Related Cardiocutaneous Progeria Syndrome

GO Terms for Lmna-Related Cardiocutaneous Progeria Syndrome

Sources for Lmna-Related Cardiocutaneous Progeria Syndrome

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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