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MCID: LMN005
MIFTS: 23

Lmna-Related Cardiocutaneous Progeria Syndrome

Categories: Cardiovascular diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Lmna-Related Cardiocutaneous Progeria Syndrome

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MalaCards integrated aliases for Lmna-Related Cardiocutaneous Progeria Syndrome:

Name: Lmna-Related Cardiocutaneous Progeria Syndrome 60
Lcps 60

Characteristics:

Orphanet epidemiological data:

60
lmna-related cardiocutaneous progeria syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare skin diseases


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Summaries for Lmna-Related Cardiocutaneous Progeria Syndrome

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

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Related Diseases for Lmna-Related Cardiocutaneous Progeria Syndrome

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 legg-calve-perthes disease 11.5
2 rheumatoid arthritis 10.0
3 cystic fibrosis 10.0
4 pancreatic cancer 10.0
5 arthritis 10.0
6 burns 10.0
7 lymphoma 10.0
8 bone disease 10.0
9 myopia 10.0
10 cholera 10.0
11 central nervous system lymphoma 10.0
12 neuromuscular disease 10.0
13 primary central nervous system lymphoma 10.0
14 tremor 10.0

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



Diseases related to Lmna-Related Cardiocutaneous Progeria Syndrome
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Symptoms & Phenotypes for Lmna-Related Cardiocutaneous Progeria Syndrome

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Human phenotypes related to Lmna-Related Cardiocutaneous Progeria Syndrome:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 60 33 hallmark (90%) Very frequent (99-80%) HP:0000822
2 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100578
3 emphysema 60 33 hallmark (90%) Very frequent (99-80%) HP:0002097
4 hypertriglyceridemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002155
5 congestive heart failure 60 33 hallmark (90%) Very frequent (99-80%) HP:0001635
6 premature graying of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002216
7 mitral regurgitation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001653
8 mitral valve calcification 60 33 hallmark (90%) Very frequent (99-80%) HP:0004382
9 hypercholesterolemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003124
10 intracranial hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0002170
11 abnormality of the pulmonary artery 60 33 hallmark (90%) Very frequent (99-80%) HP:0004414
12 sparse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0008070
13 absent eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000561
14 aortic valve stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001650
15 squamous cell carcinoma of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0006739
16 abnormality of the intrahepatic bile duct 60 33 hallmark (90%) Very frequent (99-80%) HP:0011040
17 scleroderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0100324
18 absent eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0002223
19 alopecia universalis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002289
20 ventricular hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001714
21 pulmonary carcinoid tumor 60 33 hallmark (90%) Very frequent (99-80%) HP:0030445
22 premature skin wrinkling 60 33 hallmark (90%) Very frequent (99-80%) HP:0100678
23 basal cell carcinoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002671
24 papillary renal cell carcinoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0006766
25 aortic root aneurysm 33 hallmark (90%) HP:0002616
26 coronary artery atherosclerosis 33 hallmark (90%) HP:0001677
27 aortic atherosclerotic lesion 33 hallmark (90%) HP:0012397
28 aortic root dilatation 60 Very frequent (99-80%)
29 coronary atherosclerosis 60 Very frequent (99-80%)
30 aortic atherosclerosis 60 Very frequent (99-80%)
Sources

Drugs & Therapeutics for Lmna-Related Cardiocutaneous Progeria Syndrome

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

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Genetic Tests for Lmna-Related Cardiocutaneous Progeria Syndrome

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Anatomical Context for Lmna-Related Cardiocutaneous Progeria Syndrome

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

42
Skin, Heart, Bone
Sources

Publications for Lmna-Related Cardiocutaneous Progeria Syndrome

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Articles related to Lmna-Related Cardiocutaneous Progeria Syndrome:

# Title Authors Year
1
Applications of Lgr5-Positive Cochlear Progenitors (LCPs) to the Study of Hair Cell Differentiation. ( 30873406 )
2019
2
Legg-Calvé-Perthes syndrome (LCPS): an up-to-date critical review Charles W. Goff, MD CORR 1962;22:93-107. ( 22806262 )
2012
3
Recent developments in infant formulae: 1--The addition of LCPs. ( 10197022 )
1998
4
Legg-Calve-Perthes syndrome (LCPS). An up-to-date critical review. ( 13899540 )
1962
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Variations for Lmna-Related Cardiocutaneous Progeria Syndrome

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Expression for Lmna-Related Cardiocutaneous Progeria Syndrome

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

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GO Terms for Lmna-Related Cardiocutaneous Progeria Syndrome

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Sources for Lmna-Related Cardiocutaneous Progeria Syndrome

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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
51 NCIt
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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