BJS
MCID: BJR001
MIFTS: 43
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Bjornstad Syndrome (BJS)
Categories:
Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Bjornstad Syndrome:
Characteristics:Inheritance:OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity hearing loss typically begins between 3 and 4 years of age hair loss begins in first years of life Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Skin diseases Neuronal diseases Ear diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Björnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.People with Björnstad syndrome also have hearing problems that become evident in early childhood. The hearing loss, which is caused by changes in the inner ear (sensorineural deafness), can range from mild to severe. Mildly affected individuals may be unable to hear sounds at certain frequencies, while severely affected individuals may not be able to hear at all. MalaCards based summary: Bjornstad Syndrome, also known as bjs, is related to mitochondrial complex iii deficiency, nuclear type 1 and gracile syndrome. An important gene associated with Bjornstad Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways is Mitochondrial complex III assembly. Affiliated tissues include skin, skeletal muscle and ovary, and related phenotypes are sensorineural hearing impairment and alopecia OMIM®: 57 Bjornstad syndrome (BJS) 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). (262000) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle. Disease Ontology: 11 A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has material basis in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. GARD: 19 Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Orphanet: 58 Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Wikipedia: 75 Björnstad syndrome is an autosomal recessive congenital condition involving pili torti, sensorineural... more... |
Human phenotypes related to Bjornstad Syndrome:58 30 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:262000 (Updated 08-Dec-2022) |
Cochrane evidence based reviews: bjornstad syndrome |
Organs/tissues related to Bjornstad Syndrome:
MalaCards :
Skin,
Skeletal Muscle,
Ovary,
Liver,
Testis,
Kidney,
Brain
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Articles related to Bjornstad Syndrome:(show all 45)
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ClinVar genetic disease variations for Bjornstad Syndrome:5 (show all 20)
UniProtKB/Swiss-Prot genetic disease variations for Bjornstad Syndrome:73
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Search
GEO
for disease gene expression data for Bjornstad Syndrome.
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Cellular components related to Bjornstad Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Bjornstad Syndrome according to GeneCards Suite gene sharing:
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