Details of Disease

General Information of Disease (ID: DISO267N)

Disease Name Bjornstad syndrome
Synonyms
pili torti-sensorineural hearing loss; BJrnstad syndrome; PTD; PTND; deafness and pili torti, Bjornstad type; BJS; pili torti and nerve deafness; Bjrnstad Syndrome; deafness-pili torti-hypogonadism syndrome; Bjornstad syndrome
Definition
Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.
Disease Hierarchy
DISKAHA3: Mitochondrial disease
DISCPWH9: Autosomal recessive disease
DISO267N: Bjornstad syndrome
Disease Identifiers
MONDO ID
MONDO_0009872
MESH ID
C537633
UMLS CUI
C0266006
OMIM ID
262000
MedGen ID
82728
Orphanet ID
123
SNOMED CT ID
67817003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EGLN2 TTMHFRY Definitive Biomarker [1]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PNKD OT6G9UXN Limited Biomarker [2]
TAF1 OTDYS5G4 Limited Genetic Variation [2]
THAP1 OTIWUSON moderate Biomarker [3]
ANO3 OTM34U6Q Strong Genetic Variation [4]
GNAL OTESDTEU Strong Genetic Variation [4]
BCS1L OT5PY5CY Definitive Autosomal recessive [5]
PHC1 OT1JMX8U Definitive Biomarker [1]
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⏷ Show the Full List of 7 DOT(s)

References

1 Enhanced delivery efficiency of recombinant adenovirus into tumor and mesenchymal stem cells by a novel PTD.Cancer Gene Ther. 2008 Nov;15(11):703-12. doi: 10.1038/cgt.2008.45. Epub 2008 Jul 4.
2 Genetics of dystonia.Semin Neurol. 2011 Nov;31(5):441-8. doi: 10.1055/s-0031-1299783. Epub 2012 Jan 21.
3 Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.Mov Disord. 2010 Dec 15;25(16):2854-7. doi: 10.1002/mds.23133.
4 Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.Mov Disord. 2014 Jan;29(1):143-7. doi: 10.1002/mds.25715. Epub 2013 Oct 22.
5 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.