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MCID: BJR001
MIFTS: 32
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Bjornstad Syndrome
Categories:
Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases, Neuronal diseases, Ear diseases
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MalaCards integrated aliases for Bjornstad Syndrome:
Characteristics:Orphanet epidemiological data:59
björnstad syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable severity hearing loss typically begins between 3 and 4 years of age hair loss begins in first years of life HPO:32
bjornstad syndrome:
Onset and clinical course variable expressivity Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Skin diseases Neuronal diseases Ear diseases |
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 123Disease definitionBjörnstad syndrome is characterized by congenitalsensorineural 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. Björnstad 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 (see this term).Visit the Orphanet disease page for more resources.
MalaCards based summary : Bjornstad Syndrome, also known as pili torti and nerve deafness, is related to pili torti, early-onset and crandall syndrome. An important gene associated with Bjornstad Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone). Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and sensorineural hearing impairment OMIM : 57 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). (262000) UniProtKB/Swiss-Prot : 75 Bjoernstad syndrome: 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. CDC : 3 One of the best ways to prevent and control occupational injuries, illnesses, and fatalities is to "design out" or minimize hazards and risks. NIOSH leads a national initiative called Prevention through Design (PtD). PtD's purpose is to promote this concept and highlight its importance in all business decisions. Wikipedia : 76 Björnstad syndrome is an autosomal recessive congenital condition involving pili torti and nerve... more... |
Diseases related to Bjornstad Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 15)
Graphical network of the top 20 diseases related to Bjornstad Syndrome:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:262000Human phenotypes related to Bjornstad Syndrome:59 32 (show all 10)
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MalaCards organs/tissues related to Bjornstad Syndrome:41
Skin,
Eye
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Articles related to Bjornstad Syndrome:
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Genes related to Bjornstad Syndrome (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Bjornstad Syndrome:75
ClinVar genetic disease variations for Bjornstad Syndrome:6
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Search
GEO
for disease gene expression data for Bjornstad Syndrome.
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