FLNA-related X-linked myxomatous valvular dysplasia
Synonyms: FLNA-related valvular dystrophy · Filamin A-related X-linked myxomatous valvular dysplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic cardiac malformation characterized by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FLNA-related X-linked myxomatous valvular dysplasia | FLNA-related valvular dystrophy · Filamin A-related X-linked myxomatous valvular dysplasia |
| fr | Dysplasie valvulaire myxomatose liée à l'X associée à FLNA | Dysplasie valvulaire myxomatose liée à l'X associée à la filamine A · Dystrophie valvulaire associée à FLNA |
| de | FLNA-assoziierte X-chromosomale myxomatose Herzklappendysplasie | Herzklappendysplasie, FLNA-Gen-assoziierte · X-chromosomale Herzklappendysplasie |
| es | Displasia valvular mixomatosa ligada al cromosoma X asociada al gen FLNA | Displasia valvular mixomatosa ligada al cromosoma X asociada a la filamina A · Distrofia valvular asociada al gen FLNA |
| it | Displasia valvolare mixomatosa legata all'X correlata a FLNA | |
| nl | FLNA-gerelateerde X-gebonden myxomateuze klepdysplasie | FLNA-gerelateerde klepdystrofie · Filamine A-gerelateerde X-gebonden myxomateuze klepdysplasie |
| pt | Displasia valvular mixomatosa ligada ao X FLNA-relacionada | |
| pl | Dysplazja śluzakowata zastawkowa sprzężona z chromosomem X związana z FLNA | = en |
| cs | X-vázaná myxomatozní valvulární dysplázie související s FLNA | FLNA-vázaná valvulární dystrofie · X-vázaná myxomatozní valvulární dysplázie související s filaminem A |
| uk | Х-зчеплена міксоматозна клапанна дисплазія, повязана з FLNA | Міксоматозна клапанна дисплазія, повязана з філаміном А, зчеплена з Х-хромосомою · Клапанна дистрофія, повязана з FLNA |
| zh | FLNA基因相关的X连锁粘液瘤性瓣膜发育不良 | 细丝蛋白A相关X连锁粘液瘤性瓣膜发育不良 |
| tr | FLNA-ilişkili X'e bağlı miksomatöz valvüler displazi | FLNA-ilişkili kapak distrofisi · FLNA ile ilişkili kapak distrofisi · Filamin A ile ilişkili X'e bağlı miksomatöz valvüler displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 314400 | BTNT | validated | |
| ICD-10 | Q23.8 | NTBT | attributed | validated |
| ICD-11 | LA8Y | NTBT | attributed | validated |
| MONDO | 0010753 | E | validated | |
| MONDO | 10753 | E | validated | |
| UMLS | C0262436 | E | validated | |
| GARD | 1096 | 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:98720Atrioventricular valve anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations - ORPHA:477805Genetic cardiac malformation
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1864OBSOLETE: Congenital valvular dysplasia referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLNA | Disease-causing germline mutation(s) in | Assessed | HGNC:3754 | ENSG00000196924 | 300017 | Xq28 | filamin A | 17190868[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29146485[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
24 annotations · validated 2022-11-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001653 | Mitral regurgitation | |
| HP:0010444 | Pulmonary insufficiency | |
| HP:0005180 | Tricuspid regurgitation | |
| Frequent (79-30%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0001634 | Mitral valve prolapse | |
| Occasional (29-5%) | ||
| HP:0001647 | Bicuspid aortic valve | |
| HP:0001382 | Joint hypermobility | |
| HP:0031624 | Moderate myopia | |
| HP:0000189 | Narrow palate | |
| HP:0001763 | Pes planus | |
| Very rare (<4-1%) | ||
| HP:0001488 | Bilateral ptosis | |
| HP:0002094 | Dyspnea | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000974 | Hyperextensible skin | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000767 | Pectus excavatum | |
| HP:0032388 | Periventricular nodular heterotopia | |
| HP:0030718 | Right atrial enlargement | |
| HP:0002650 | Scoliosis | |
| HP:0000179 | Thick lower lip vermilion | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 29020406[PMID]_24521555[PMID]_27739212[PMID]_27004951[PMID]_29146485[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/555877
- This record as JSON: /data/d/555877.json