ORPHA:107
BOR syndrome
Synonyms: Branchiootorenal spectrum disorder · Branchiootorenal syndrome · Melnick-Fraser syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | BOR syndrome | Branchiootorenal spectrum disorder · Branchiootorenal syndrome · Melnick-Fraser syndrome |
| fr | Syndrome BOR | Maladie de spectre branchio-oto-rénal · Syndrome branchio otique · Syndrome branchio-oto-rénal · Syndrome de Melnick-Fraser |
| de | BOR-Syndrom | Branchio-oto-renales Syndrom · Branchiootorenale Spektrum-Störung · Melnick-Fraser-Syndrom |
| es | Síndrome BOR | Síndrome branquio-oto-renal · Síndrome de Melnick-Fraser · Trastorno del espectro branquio-oto-renal |
| it | Sindrome BOR | Malattia dello spettro branchio-oto-renale · Sindrome branchio-oto-renale · Sindrome di Melnick-Fraser |
| nl | BOR-syndroom | Branchio-otorenaal syndroom · Branchio-otorenale spectrumstoornis · Syndroom van Melnick-Fraser |
| pt | Síndrome BOR | Doença do espectro clínico branquio-oto-renal · Síndrome Melnick-Fraser · Síndrome branquio-oto-renal |
| pl | Zespół oskrzelowo-uszno-nerkowy | Zespół skrzelowo-uszno-nerkowy · Zespół BOR |
| cs | BOR syndrom | Branchiootorenální syndrom |
| uk | BOR-синдром | Порушення бранхіооторенального спектру · Бранхіооторенальний синдром · Синдром Мельника-Фрейзера |
| zh | BOR综合征 | 腮-耳-肾综合征 |
| tr | BOR sendromu | Brankiyootorenal sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113650 | E | validated | |
| OMIM | 610896 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007029 | E | validated | |
| MeSH | D019280 | E | validated | |
| UMLS | C0265234 | E | validated | |
| GARD | 10147 | E | validated | |
| MedDRA | 10071135 | 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 (9):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156202Otomandibular dysplasia associated with monogenic syndromes
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EYA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3519 | ENSG00000104313 | 601653 | 8q13.3 | EYA transcriptional coactivator and phosphatase 1 | 20301554[PMID] |
| SIX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10887 | ENSG00000126778 | 601205 | 14q23.1 | SIX homeobox 1 | 20301554[PMID] |
| SIX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:10891 | ENSG00000177045 | 600963 | 19q13.32 | SIX homeobox 5 | 20301554[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Canada | Value and class | Validated | 7468659[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Worldwide | Value and class | Validated | 7468659[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.
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HPO phenotypes
38 annotations · validated 2024-04-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000359 | Abnormality of the inner ear | Diagnostic criterion |
| HP:0000370 | Abnormality of the middle ear | Diagnostic criterion |
| HP:0000365 | Hearing impairment | Diagnostic criterion |
| HP:0004467 | Preauricular pit | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0004452 | Abnormality of the middle ear ossicles | |
| HP:0011395 | Aplasia/Hypoplasia of the cochlea | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0009794 | Branchial anomaly | Diagnostic criterion |
| HP:0009796 | Branchial cyst | Diagnostic criterion |
| HP:0100272 | Branchial sinus | Diagnostic criterion |
| HP:0000405 | Conductive hearing impairment | |
| HP:0011388 | Enlarged cochlear aqueduct | |
| HP:0011387 | Enlarged vestibular aqueduct | |
| HP:0008586 | Hypoplasia of the cochlea | |
| HP:0000394 | Lop ear | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0000384 | Preauricular skin tag | Diagnostic criterion |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0000402 | Stenosis of the external auditory canal | |
| Occasional (29-5%) | ||
| HP:0011481 | Abnormal lacrimal duct morphology | |
| HP:0000356 | Abnormality of the outer ear | Diagnostic criterion |
| HP:0000175 | Cleft palate | |
| HP:0100581 | Dilatation of renal calices | |
| HP:0009798 | Euthyroid goiter | |
| HP:0000324 | Facial asymmetry | |
| HP:0010628 | Facial palsy | |
| HP:0100274 | Gustatory lacrimation | |
| HP:0000126 | Hydronephrosis | |
| HP:0007925 | Lacrimal duct aplasia | |
| HP:0008551 | Microtia | |
| HP:0040106 | Morphological abnormality of the lateral semicircular canal | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0000278 | Retrognathia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000074 | Ureteropelvic junction obstruction | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301554[PMID]_33624842[PMID]_35434312[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/107
- This record as JSON: /data/d/107.json