X-linked severe syndromic thoracic aortic aneurysm and dissection
Synonyms: Meester-Loeys syndrome · X-linked severe syndromic TAAD
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare genetic systemic syndrome characterized by early-onset aortic aneurysm (involving the aortic root/ more distal ascending aorta) and dissection. Mild mitral or aortic insufficiency may also be present. Majority of the patients present with variable facial dysmorphism including frontal bossing, hypertelorism, downslanting palpebral fissures, proptosis and malar hypoplasia. Additional clinical features may include joint hypermobility, contractures, and mild skeletal dysplasia.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked severe syndromic thoracic aortic aneurysm and dissection | Meester-Loeys syndrome · X-linked severe syndromic TAAD |
| fr | Anévrisme de l'aorte thoracique et dissection aortique, forme syndromique sévère liée à l'X | Syndrome de Meester-Loeys · TAAD syndromique sévère lié à l'X |
| de | X-chromosomales schweres thorakales Aortenaneurysma mit Dissektion | Meester-Loeys-Syndrom · X-chromosomales schweres thorakales TAAD |
| es | Disección y aneurisma de la aorta torácica sindrómica grave ligada al cromosoma X | Síndrome de Meester-Loeys · TAAD sindrómico grave ligado al cromosoma X |
| it | Grave aneurisma e dissecazione sindromica dellaorta toracica legata allX | Sindrome di Meester-Loeys · TAAD sindromica grave legata allX |
| nl | X-gebonden ernstige syndromale aneurysma en dissectie van aorta thoracica | Syndroom van Meester-Loeys · X-gebonden ernstige syndromale TAAD · X-gebonden ernstige syndromale aneurysma en dissectie van thoracale aorta |
| pt | Aneurisma e disseção da aorta torácica sindromática grave ligada ao X | TAAD sindromática grave ligada ao X |
| pl | Sprzężone z chromosomem X ciężkie syndromiczne rozwarstwienie i tętniak aorty | = en |
| cs | X-vázaný syndrom těžkého aneuryzmatu a disekce hrudní aorty | = en |
| uk | Х-зчеплена тяжка синдромна аневризма та розшарування грудного відділу аорти | Синдром Местера-Лойса · Х-зчеплений тяжкий синдром TAAD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300989 | E | validated | |
| ICD-10 | I71.1 | NTBT | attributed | validated |
| ICD-11 | BD50.3 | NTBT | attributed | validated |
| ICD-11 | BD50.30 | NTBT | attributed | validated |
| MONDO | 0850095 | E | validated | |
| UMLS | C4310811 | 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 (3):
- ORPHA:284993Marfan syndrome and Marfan-related disorders
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:285014Rare disease with thoracic aortic aneurysm and aortic dissection
rare genetic diseases; rare surgical thoracic diseases; rare circulatory system diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BGN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1044 | ENSG00000182492 | 301870 | Xq28 | biglycan | 27632686[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 27632686[PMID]_34807424[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27632686[PMID]_34807424[PMID]_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/622925
- This record as JSON: /data/d/622925.json