LMNA-related cardiocutaneous progeria syndrome
Synonyms: LCPS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | LMNA-related cardiocutaneous progeria syndrome | LCPS |
| fr | Syndrome progéroïde cardio-cutané lié à LMNA | = en |
| de | LMNA-abhängiges kardiokutanes Progerie-Syndrom | = en |
| es | Síndrome progeroide cardio-cutáneo asociado al gen LMNA | = en |
| it | Sindrome progeroide cardiocutanea correlata a LMNA | = en |
| nl | LMNA-gerelateerd cardiocutaan progeriasyndroom | = en |
| pt | Síndrome de progeria cardiocutânea LMNA-relacionada | |
| pl | Zespół progerii sercowo-skórnej zwiaząny z LMNA | = en |
| cs | LMNA-vázaný syndrom kardiokutánní progerie | = en |
| uk | Синдром серцево-шкірної прогерії, повязаний з LMNA | = en |
| zh | LMNA基因相关心脏皮肤早衰综合征 | = en |
| tr | LMNA-ilişkili kardiyokutanöz progeria sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E34.8 | NTBT | attributed | validated |
| MONDO | 0018203 | E | validated | |
| UMLS | C4750858 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:300766Laminopathy with premature aging
rare genetic diseases - ORPHA:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:97929Rare cardiac disease
rare cardiac diseases - ORPHA:98054Rare genetic cardiac disease
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 23666920[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 23666920[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23666920[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
27 annotations · validated 2016-01-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011040 | Abnormality of the intrahepatic bile duct | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0002289 | Alopecia universalis | |
| HP:0012397 | Aortic atherosclerosis | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0001635 | Congestive heart failure | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0002097 | Emphysema | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0000822 | Hypertension | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0100578 | Lipoatrophy | |
| HP:0001653 | Mitral regurgitation | |
| HP:0004382 | Mitral valve calcification | |
| HP:0006766 | Papillary renal cell carcinoma | |
| HP:0002216 | Premature graying of hair | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0030445 | Pulmonary carcinoid tumor | |
| HP:0100324 | Scleroderma | |
| HP:0008070 | Sparse hair | |
| HP:0006739 | Squamous cell carcinoma of the skin | |
| HP:0001714 | Ventricular hypertrophy | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 23666920[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363618
- This record as JSON: /data/d/363618.json