Bjornstad syndrome

Preferred Label : Bjornstad syndrome;

Symbol : BJS;

CISMeF acronym : BJS; PTD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pili torti and nerve deafness; PTD;

Description : Bjornstad syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle, is usually recognized early in childhood (Selvaag, 2000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene (BCS1L, 603647.0008);

Prefixed ID : #262000;

Details

Origin ID

262000;

UMLS CUI

C0266006;

Automatic exact mappings (from CISMeF team)
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [ORDO Gene]
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [HGNC gene]
- Björnstad syndrome [ICD-11 More detail]
- Prolinethiuramdisulfide [NCIt concept]
- purine deoxyribosyltransferase activity [GO term]
Currated CISMeF NLP mapping
- Bjornstad syndrome [PASCAL descriptor]
- Bjornstad syndrome [DO Concept]
- Bjornstad syndrome [MeSH concept]
- Björnstad syndrome [ORDO Disease]
- Pili torti-deafness syndrome (disorder) [SNOMED CT concept]
- bjornstad syndrome [MeSH Supplementary Concept]
- pili torti-deafness syndrome [SNOMED Notion]
DO Cross reference
- Bjornstad syndrome [DO Concept]
False automatic mappings
- Benin [NCIt concept]
Genes related to phenotype
- Bcs1 homolog, ubiquinol-cytochrome C reductase complex chaperone [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Anhidrosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Coarse hair [HPO term]
- Dry hair [HPO term]
- Gonadotropin deficiency [HPO term]
- Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes [HPO term]
- Hypogonadism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Pili torti [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Björnstad syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bjornstad syndrome [MeSH concept]
- Bjornstad syndrome [DO Concept]
- Bjornstad syndrome [PASCAL descriptor]
- Björnstad syndrome [ORDO Disease]
- Pili torti-deafness syndrome (disorder) [SNOMED CT concept]
- bjornstad syndrome [MeSH Supplementary Concept]
- pili torti-deafness syndrome [SNOMED Notion]

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