Lethal arteriopathy syndrome due to fibulin-4 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal arteriopathy syndrome due to fibulin-4 deficiency | |
| fr | Syndrome d'artériopathie létale par déficit en fibuline-4 | |
| de | Letales Arteriopathie-Syndrom durch Fibulin-4-Mangel | |
| es | Síndrome de arteriopatía letal por deficiencia de fibulina-4 | |
| it | Sindrome da arteriopatia letale secondaria al deficit di fibulina-4 | |
| nl | Letaal arteriopathiesyndroom door fibuline-4-deficiëntie | |
| pt | Síndrome de arteriopatia letal devido à deficiência de FBLN4 | |
| pl | Zespół śmiertelnej arteriopatii z powodu niedoboru fibuliny-4 | |
| cs | Syndrom letální arteriopatie způsobený deficitem fibulinu-4 | |
| uk | Синдром летальної артеріопатії, зумовлений дефіцитом фібуліну-4 | |
| zh | 纤维蛋白-4缺乏所致致死性动脉病综合征 | |
| tr | Fibulin-4 eksikliğine bağlı letal arteriopati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614437 | NTBT | validated | |
| ICD-10 | Q25.8 | NTBT | attributed | validated |
| ICD-11 | LA8B.2Y | NTBT | attributed | validated |
| MONDO | 0017818 | E | validated | |
| UMLS | C5190604 | 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 (2):
- ORPHA:209Cutis laxa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases - ORPHA:233655Rare genetic vascular disease
rare genetic diseases; rare circulatory system diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EFEMP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3219 | ENSG00000172638 | 604633 | 11q13.1 | EGF-like fibulin extracellular matrix protein 2 | 22943132[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 22943132[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314718
- This record as JSON: /data/d/314718.json