Brachydactyly-arterial hypertension syndrome
Synonyms: Bilginturan brachydactyly · Bilginturan syndrome · Brachydactyly type E, with short stature and hypertension
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly-arterial hypertension syndrome | Bilginturan brachydactyly · Bilginturan syndrome · Brachydactyly type E, with short stature and hypertension |
| fr | Syndrome de brachydactylie-hypertension artérielle | Brachydactylie type E avec petite taille et hypertension · Syndrome de Bilginturan |
| de | Brachydaktylie-arterielle Hypertension-Syndrom | Bilginturan-Brachydaktylie · Bilginturan-Syndrom · Brachydaktylie Typ E mit Kleinwuchs und Bluthochdruck |
| es | Síndrome de braquidactilia-hipertensión arterial | Braquidactilia de Bilginturan · Braquidactilia tipo E con talla baja e hipertensión · Síndrome de Bilginturan |
| it | Sindrome da brachidattilia-ipertensione arteriosa | Brachidattilia di Bilginturan · Brachidattilia, tipo E, con bassa statura e ipertensione · Sindrome di Bilginturan |
| nl | Brachydactylie - arteriële hypertensie-syndroom | Brachydactylie type E met kleine gestalte en hypertensie · Brachydactylie van Bilginturan · Syndroom van Bilginturan |
| pt | Síndrome de braquidactilia-hipertensão arterial | Braquidactilia Bilginturan · Braquidactilia tipo E, com baixa estatura e hipertensão · Síndrome Bilginturan |
| pl | Zespół brachydaktylii i nadciśnienia tętniczego | Brachydaktylia Bilginturana · Brachydaktylia typu E z niskim wzrostem i nadciśnieniem · Zespół Bilginturana |
| cs | Syndrom zahrnující brachydaktylii a arteriální hypertenzi | Bilginturanova brachydaktylie · Bilginturanův syndrom · Brachydaktylie typu E, s malým vzrůstem a hypertenzí |
| uk | Синдром брахідактилії з артеріальною гіпертензією | Більгінтуранська брахідактилія · Більгінтуранський синдром · Брахідактилія типу Е, з низьким зростом і гіпертензією |
| zh | 短指畸形-动脉高血压综合征 | E型短指畸形伴身材矮小及高血压 |
| tr | Brakidaktili-arteriyel hipertansiyon sendromu | Bilginturan sendromu · Bilginturan brakidaktilisi · Kısa boy ve hipertansiyon ile brakidaktili tip E |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112410 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD24.8Y | NTBT | index | validated |
| MONDO | 0007211 | E | validated | |
| MeSH | C537095 | E | validated | |
| UMLS | C1862170 | E | validated | |
| GARD | 967 | 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:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:156629Rare genetic cause of hypertension
rare genetic diseases; rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDE3A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:8778 | ENSG00000172572 | 123805 | 12p12.2 | phosphodiesterase 3A | 25961942[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0000822 | Hypertension | |
| HP:0010049 | Short metacarpal | |
| HP:0009803 | Short phalanx of finger | |
| HP:0004322 | Short stature | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1276
- This record as JSON: /data/d/1276.json