ORPHA:79094
Grange syndrome
Synonyms: Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by early onset of hypertension and multifocal stenotic lesions of various arteries (including cerebral, renal, abdominal, and coronary). Variable additional features include learning difficulties, mild facial dysmorphism, anomalies of the fingers and toes, bone fragility, and congenital heart defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Grange syndrome | Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome |
| fr | Syndrome de Grange | Syndrome d'occlusion artérielle de Grange · Syndrome d'occlusion artérielle progressive-hypertension-malformations cardiaques-fragilité osseuse-brachysyndactylie |
| de | Grange-Syndrom | Arterielle Verschlusskrankheit Typ Grange · Arterielle Verschlusskrankheit, progressive - Hypertension - Herzfehler - Knochenfragilität - Brachysyndaktyly |
| es | Síndrome de Grange | Síndrome de arterial oclusivo de Grange |
| it | Sindrome di Grange | Occlusione arteriosa progressiva - ipertensione - malformazioni cardiache - fragilità ossea - brachisindattilia · Sindrome da occlusione arteriosa di Grange |
| nl | Syndroom van Grange | Occlusief arterieel syndroom, Grange-type · Progressieve arteriële occlusieve ziekte - hypertensie - hartdefecten - botfragiliteit - brachysyndactylie-syndroom |
| pt | Síndrome Grange | Síndrome de oclusão arterial progressiva-hipertensão-anomalias cardíacas-fragilidade óssea-braquissindactilia · Síndrome oclusivo arterial Grange |
| pl | Zespół Grange'a | Postepująca choroba okluzji tętnic - nadciśnienie - wady serca - kruchość kości - brachysyndaktylia · Zespół okluzji tętnic Grange'a |
| cs | Grangeové syndrom | Grangeové okluzivní arteriální syndrom · Syndrom zahrnující progresivní arteriální okluzivní nemoc, hypertenzi, defekty srdce, kostní fragilitu a brachysyndaktylii |
| uk | Синдром Грейнджа | Оклюзійний артеріальний синдром Грейнджа · Прогресуюча оклюзійна хвороба артерій-гіпертонія-вади серця-крихкість кісток-синдром брахісиндактилії |
| zh | Grange综合征 | 进行性动脉闭塞性疾病-高血压-心脏缺陷-骨脆弱-短指综合征 |
| tr | Grange sendromu | Grange oklüzif arter sendromu · ilerleyici arter tıkayıcı hastalık-hipertansiyon-kalp defektleri-kemik kırılganlığı-brakisinkaktili sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602531 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD28.Y | NTBT | index | validated |
| MONDO | 0011243 | E | validated | |
| MeSH | C566529 | E | validated | |
| UMLS | C1865267 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| YY1AP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:30935 | ENSG00000163374 | 607860 | 1q22 | YY1 associated protein 1 | 27939641[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 22987684[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.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100545 | Arterial stenosis | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0000822 | Hypertension | |
| HP:0004279 | Short palm | |
| HP:0001159 | Syndactyly | |
| Occasional (29-5%) | ||
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 9489789[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79094
- This record as JSON: /data/d/79094.json