LMNA-related cardiocutaneous progeria syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LCPS |
| Number of Symptoms | 16 |
| OrphanetNr: | 363618 |
| OMIM Id: |
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| ICD-10: |
E34.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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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:
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(HPO:0007495) | Prematurely aged appearance | 23666920 | IBIS | 44 / 7739 | ||
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(HPO:0100678) | Premature skin wrinkling | 23666920 | IBIS | 25 / 7739 | ||
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(HPO:0002875) | Exertional dyspnea | 23666920 | IBIS | 29 / 7739 | ||
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(HPO:0003758) | Reduced subcutaneous adipose tissue | 23666920 | IBIS | 27 / 7739 | ||
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(HPO:0001653) | Mitral regurgitation | 23666920 | IBIS | 64 / 7739 | ||
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(HPO:0004382) | Mitral valve calcification | 23666920 | IBIS | 5 / 7739 | ||
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(HPO:0001650) | Aortic valve stenosis | 23666920 | IBIS | 49 / 7739 | ||
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(HPO:0001638) | Cardiomyopathy | 23666920 | IBIS | 192 / 7739 | ||
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(HPO:0005145) | Coronary artery stenosis | 23666920 | IBIS | 5 / 7739 | ||
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(HPO:0002621) | Atherosclerosis | 23666920 | IBIS | 33 / 7739 | ||
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(HPO:0001635) | Congestive heart failure | 23666920 | IBIS | 232 / 7739 | ||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | 23666920 | IBIS | 117 / 7739 | ||
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(HPO:0011457) | Loss of eyelashes | 23666920 | IBIS | 2 / 7739 | ||
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(HPO:0002216) | Premature graying of hair | 23666920 | IBIS | 43 / 7739 | ||
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(HPO:0002209) | Sparse scalp hair | 23666920 | IBIS | 59 / 7739 | ||
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(HPO:0002671) | Basal cell carcinoma | 23666920 | IBIS | 18 / 7739 |
Associated genes:
| LMNA; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| LMNA | rs113436208 | pathogenic | RCV000015607.27 |
| LMNA | rs113436208 | pathogenic | RCV000192016.1 |
| 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 | RCV000192009.1 |
| LMNA | rs60310264 | pathogenic | RCV000015596.21 |
| 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 |