Branchiootic syndrome 1

Preferred Label : Branchiootic syndrome 1;

Symbol : BOS1;

CISMeF acronym : BOS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bo syndrome 1; Branchiootic dysplasia;

Included titles and symbols : Anterior segment anomalies with or without cataract;

Description : Individuals with the BO syndrome are affected by the same branchial and otic anomalies as those seen in individuals with the branchiootorenal syndrome (see BOR1, 113650), but lack renal anomalies (Vincent et al., 1997). Although Melnick et al. (1978) maintained that the BO syndrome is distinct from the BOR syndrome because of the lack of renal anomalies and variable presence of deafness in the former, Cremers and Fikkers-van Noord (1980) suggested that the 2 syndromes represent a single entity. See 113600 for a discussion of branchial cleft anomalies, which may be related. - Genetic Heterogeneity of Branchiootic Syndrome See also BOS2 (120502), which maps to chromosome 1, and BOS3 (608389), which maps to 14q23 and is caused by mutations in the SIX1 gene (601205).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the EYA transcriptional coactivator and phosphatase 1 gene (EYA1, 601653.0003);

Prefixed ID : #602588;

Details

Origin ID

602588;

UMLS CUI

C1865143;

Automatic exact mappings (from CISMeF team)
- EYA1 wt Allele [NCIt concept]
- golgi SNAP receptor complex member 2 [ORDO Gene]
Broader ORDO disease(s)
- Branchiootic syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Branchio-otic syndrome [ICD-11 More detail]
- Branchiootic syndrome [ORDO Disease]
- Branchiootic syndrome (disorder) [SNOMED CT concept]
- branchiootic syndrome [Disease (Nov.)]
- branchiootic syndrome [DO Concept]
- branchiootic syndrome [MeSH concept]
- branchiootic syndrome [MeSH Supplementary Concept]
DO Cross reference
- branchiootic syndrome [DO Concept]
Genes related to phenotype
- Eya transcriptional coactivator and phosphatase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Branchial fistula [HPO term]
- Cochlear malformation [HPO term]
- Cupped ear [HPO term]
- Dilatated internal auditory canal [HPO term]
- Hypoplasia of the cochlea [HPO term]
- Hypoplastic pinna [HPO term]
- Incomplete penetrance [HPO term]
- Low-set ears [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Mild mandibular prognathism [HPO term]
- Mixed hearing impairment [HPO term]
- Preauricular pit [HPO term]
- Retrognathia [HPO term]
- Sensorineural hearing impairment [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Branchiootic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Branchiootic syndrome [ORDO Disease]
- branchiootic syndrome [MeSH concept]

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