ORPHA:284247
Familial retinal arterial macroaneurysm
Synonyms: FRAM · Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial retinal arterial macroaneurysm | FRAM · Retinal arterial macroaneurysm and supravalvular pulmonic stenosis |
| fr | Macroanévrisme artériel rétinien familial | FRAM · Macroanévrisme artériel de la rétine et sténose pulmonaire supravalvulaire |
| de | Makroaneurysmen, arterielle retinale, familiäre Form | FRAM · Retinale arterielle Makroaneurysmen - supravalvuläre Pulmonalstenose |
| es | Macroaneurisma arterial retiniano familiar | FRAM · Macroaneurisma arterial retiniano y estenosis pulmonar supravalvular |
| it | Macroaneurisma arterioso retinico familiare | FRAM · Macroaneurisma arterioso retinico e stenosi polmonare sopravalvolare |
| nl | Familiaal retinaal arterieel macroaneurysma | FRAM · Retinaal arterieel macroaneurysma en supravalvulaire pulmonale stenose |
| pt | Macroaneurisma arterial retiniano familiar | |
| pl | Rodzinny makrotętniak tętnicy siatkówki | FRAM · Makrotętniak tętnicy siatkówki i podzastawkowe zwężenie tętnicy płucnej |
| cs | Familiární retinální arteriální makroaneuryzma | FRAM · Retinální arteriální makroaneuryzma a supravalvulární stenóza arterie pulmonaris |
| uk | Сімейна артеріальна макроаневризма сітківки | FRAM · Макроаневризма артерії сітківки та надклапанний легеневий стеноз |
| zh | 家族性视网膜大动脉瘤 | 视网膜大动脉瘤与瓣膜上肺动脉狭窄 |
| tr | Ailesel retinal arteriyel makroanevrizma | FRAM · Retinal arter makroanevrizması ve supravalvüler pulmoner stenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614224 | E | validated | |
| ICD-10 | H35.0 | NTBT | attributed | validated |
| ICD-11 | 9B7Y | NTBT | index | validated |
| MONDO | 0013640 | E | validated | |
| UMLS | C3280205 | E | validated | |
| GARD | 12779 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:183503Genetic central nervous system and retinal vascular disease
rare genetic diseases - ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological diseases - ORPHA:717339Rare genetic non-progressive retinal vasculopathy
rare genetic diseases - ORPHA:716450Rare non-progressive retinal vasculopathy
rare ophthalmic disorders - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IGFBP7 | Disease-causing germline mutation(s) in | Assessed | HGNC:5476 | ENSG00000163453 | 602867 | 4q12 | insulin like growth factor binding protein 7 | 21835307[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284247
- This record as JSON: /data/d/284247.json