Branchiootorenal syndrome 1

Preferred Label : Branchiootorenal syndrome 1;

Symbol : BOR1;

CISMeF acronym : BOR1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Melnick-fraser syndrome; Branchiootorenal dysplasia;

Description : Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed (Fraser et al., 1978). - Genetic Heterogeneity of Branchiootorenal Syndrome Approximately 40% of patients with BOR have mutations in the EYA1 gene. Mutations in the SIX5 gene (600963) on chromosome 19q13 are found in about 5% of patients (BOR2; 610896). See also branchiootic (BO) syndrome-1 (BOS1; 602588) and the otofaciocervical syndrome (OFC; 166780), allelic disorders showing overlapping phenotypes but without renal anomalies. See also 600257 for a discussion of the BOR-Duane-hydrocephalus contiguous gene syndrome as described by Vincent et al. (1994). Although Melnick et al. (1978) maintained that the BOR syndrome is distinct from the BO syndrome because in the latter condition renal anomaly is absent and deafness is not a constant feature, Cremers and Fikkers-van Noord (1980) concluded that the 2 syndromes are in fact a single entity.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the EYA transcriptional coactivator and phosphatase 1 gene (EYA1, 601653.0001);

Prefixed ID : #113650;

Details

Origin ID

113650;

UMLS CUI

C4551702;

Automatic exact mappings (from CISMeF team)
- branchiootorenal syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Branchio-Oto-Renal syndrome [MeSH concept]
- Branchio-oto-renal syndrome [MedDRA Preferred Term]
- Branchiootorenal syndrome [MedDRA LLT]
- Melnick-Fraser Syndrome [NCIt concept]
- Melnick-Fraser syndrome [PASCAL descriptor]
- Melnick-Fraser syndrome (disorder) [SNOMED CT concept]
- branchio oto renal syndrome [Disease (Nov.)]
- branchio-oto-renal syndrome [MeSH Descriptor]
- branchiootorenal syndrome [DO Concept]
- melnick-fraser syndrome [SNOMED Notion]
DO Cross reference
- branchiootorenal syndrome 1 [DO Concept]
Genes related to phenotype
- Eya transcriptional coactivator and phosphatase 1 [OMIM gene]
HPO term(s)
- Abnormal cerebral morphology [HPO term]
- Abnormal renal collecting system morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Branchial cyst [HPO term]
- Branchial fistula [HPO term]
- Cholesteatoma [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital hip dislocation [HPO term]
- Cupped ear [HPO term]
- Dilatated internal auditory canal [HPO term]
- Euthyroid goiter [HPO term]
- Facial palsy [HPO term]
- Gustatory lacrimation [HPO term]
- Heterogeneous [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the cochlea [HPO term]
- Hypoplastic pinna [HPO term]
- Incomplete partition of the cochlea type II [HPO term]
- Incomplete penetrance [HPO term]
- Increased overbite [HPO term]
- Intestinal malrotation [HPO term]
- Lacrimal duct aplasia [HPO term]
- Lacrimal duct stenosis [HPO term]
- Lacrimation abnormality [HPO term]
- Long face [HPO term]
- Long, narrow facies [HPO term]
- Microdontia [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Mild mandibular prognathism [HPO term]
- Mixed hearing impairment [HPO term]
- Narrow face [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Renal agenesis [HPO term]
- Renal dysplasia [HPO term]
- Renal dysplasia/aplasia [HPO term]
- Renal malrotation [HPO term]
- Renal steatosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Variable expressivity [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- BOR syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- BOR syndrome [ORDO Disease]
- Branchio-Oto-Renal syndrome [MeSH concept]
- Branchio-oto-renal syndrome [MedDRA Preferred Term]
- Branchiootorenal syndrome [MedDRA LLT]
- Melnick-Fraser Syndrome [NCIt concept]
- Melnick-Fraser syndrome (disorder) [SNOMED CT concept]
- branchio oto renal syndrome [Disease (Nov.)]
- branchio-oto-renal syndrome [MeSH Descriptor]
- branchiootorenal syndrome [DO Concept]
- melnick-fraser syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- BOR syndrome [ORDO Disease]

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