Burn-mckeown syndrome

Preferred Label : Burn-mckeown syndrome;

Symbol : BMKS;

CISMeF acronym : BMKS; OOFD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OOFD; Oculootofacial dysplasia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thioredoxin-like 4A gene (TXNL4A, 611595.0001);

Laboratory abnormalities : Abnormal karyotype in single reported female patient 46, XX,r(18)(p14q23);

Prefixed ID : #608572;

Details

Origin ID

608572;

UMLS CUI

C1837822;

Automatic exact mappings (from CISMeF team)
- BmK AS polypeptide [MeSH Supplementary Concept]
- Burn-McKeown syndrome [DO Concept]
- oculootofacial dysplasia [MeSH concept]
- oculootofacial dysplasia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Burn-McKeown syndrome [ORDO Disease]
- Burn-Mckeown syndrome [MeSH concept]
- Burn-Mckeown syndrome [MeSH Supplementary Concept]
- Choanal atresia - deafness - cardiac defects - dysmorphism [ICD-11 More detail]
DO Cross reference
- Burn-McKeown syndrome [DO Concept]
Genes related to phenotype
- Thioredoxin-like 4a [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Bilateral choanal atresia [HPO term]
- Bilateral choanal atresia/stenosis [HPO term]
- Blepharophimosis [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conductive hearing impairment [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Hypertelorism [HPO term]
- Hypomimic face [HPO term]
- Lower eyelid coloboma [HPO term]
- Mandibular prognathia [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Preauricular skin tag [HPO term]
- Prominent ears [HPO term]
- Prominent nasal bridge [HPO term]
- Protruding ear [HPO term]
- Renal hypoplasia [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Underdeveloped nasal alae [HPO term]
- Ventricular septal defect [HPO term]
- hypoplastic/dysplastic kidney [HPO term]
ORDO concept(s)
- Burn-McKeown syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Burn-McKeown syndrome [ORDO Disease]
- Burn-Mckeown syndrome [MeSH Supplementary Concept]
- Burn-Mckeown syndrome [MeSH concept]
- Choanal atresia - deafness - cardiac defects - dysmorphism [ICD-11 More detail]
- Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients