LMNA-related cardiocutaneous progeria syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: LCPS
Number of Symptoms 16
OrphanetNr: 363618
OMIM Id:
ICD-10: E34.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
23666920 [IBIS]
Age of onset: Childhood
Adult
23666920 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Premature aging
 -Rare genetic disease
 -Rare skin disease
Rare cardiac disease
 -Rare cardiac disease
Rare genetic cardiac disease
 -Rare genetic disease

Comment:

This disease has been described to belong to the class of processing-proficient “atypical” progeria syndromes (APS) that are later in onset. Affected patients are normal at birth but undergo progressive cutaneous changes in childhood and die in middle age of cardiovascular complications. Beginning around the third decade of life, cardiac and cutaneous manifestations become evident. The average age at death for LCPS was 37.5 years. Heterozygosity for D300G cosegregates with the LCPS phenotype in the family (PMID:23666920).

Symptom Information: Sort by abundance 

1
(HPO:0007495) Prematurely aged appearance 23666920 IBIS 44 / 7739
2
(HPO:0100678) Premature skin wrinkling 23666920 IBIS 25 / 7739
3
(HPO:0002875) Exertional dyspnea 23666920 IBIS 29 / 7739
4
(HPO:0003758) Reduced subcutaneous adipose tissue 23666920 IBIS 27 / 7739
5
(HPO:0001653) Mitral regurgitation 23666920 IBIS 64 / 7739
6
(HPO:0004382) Mitral valve calcification 23666920 IBIS 5 / 7739
7
(HPO:0001650) Aortic valve stenosis 23666920 IBIS 49 / 7739
8
(HPO:0001638) Cardiomyopathy 23666920 IBIS 192 / 7739
9
(HPO:0005145) Coronary artery stenosis 23666920 IBIS 5 / 7739
10
(HPO:0002621) Atherosclerosis 23666920 IBIS 33 / 7739
11
(HPO:0001635) Congestive heart failure 23666920 IBIS 232 / 7739
12
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow 23666920 IBIS 117 / 7739
13
(HPO:0011457) Loss of eyelashes 23666920 IBIS 2 / 7739
14
(HPO:0002216) Premature graying of hair 23666920 IBIS 43 / 7739
15
(HPO:0002209) Sparse scalp hair 23666920 IBIS 59 / 7739
16
(HPO:0002671) Basal cell carcinoma 23666920 IBIS 18 / 7739

Associated genes:

LMNA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
LMNA rs113436208 pathogenic RCV000192016.1
LMNA rs113436208 pathogenic RCV000015607.27
LMNA rs113860699 pathogenic RCV000192017.1
LMNA rs113860699 pathogenic RCV000192018.1
LMNA rs267607547 pathogenic RCV000192012.1
LMNA rs57318642 pathogenic RCV000192011.1
LMNA rs58596362 pathogenic RCV000015593.28
LMNA rs59267781 pathogenic RCV000192021.1
LMNA rs59886214 pathogenic RCV000015611.21
LMNA rs60310264 pathogenic RCV000015596.21
LMNA rs60310264 pathogenic RCV000192009.1
LMNA rs60652225 pathogenic RCV000015601.23
LMNA rs60864230 pathogenic RCV000015578.28
LMNA rs61064130 pathogenic RCV000015595.25
LMNA rs730882262 pathogenic RCV000162192.1
LMNA rs797044485 pathogenic RCV000192010.1
LMNA rs797044486 pathogenic RCV000192014.1
LMNA rs797044487 pathogenic RCV000192015.1
LMNA rs797044488 pathogenic RCV000192019.1
LMNA rs797044488 pathogenic RCV000192020.1

Additional Information: