BJS
MCID: BJR001
MIFTS: 41

Bjornstad Syndrome (BJS)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bjornstad Syndrome

MalaCards integrated aliases for Bjornstad Syndrome:

Name: Bjornstad Syndrome 56 12 74 52 25 58 73 36 13 15 39
Pili Torti and Nerve Deafness 56 52 25 73
Pili Torti-Deafness Syndrome 25 29 6 71
Bjs 56 52 25 73
Ptd 56 25 73
Deafness and Pili Torti, Bjornstad Type 52 25
Pili Torti-Sensorineural Hearing Loss 52 25
Björnstad Syndrome 74 25
Deafness-Pili Torti-Hypogonadism Syndrome 58
Bjoernstad Syndrome 73
Ptnd 52

Characteristics:

Orphanet epidemiological data:

58
bjornstad syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
bjornstad syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050677
OMIM 56 262000
KEGG 36 H00820
MESH via Orphanet 44 C537633
UMLS via Orphanet 72 C0266006
Orphanet 58 ORPHA123
MedGen 41 C0266006
UMLS 71 C0266006

Summaries for Bjornstad Syndrome

Genetics Home Reference : 25 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 pili torti and nerve deafness, is related to mitochondrial complex iii deficiency, nuclear type 1 and mitochondrial metabolism disease. An important gene associated with Bjornstad Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways is Cardiac muscle contraction. Affiliated tissues include liver, lung and myeloid, and related phenotypes are alopecia and sensorineural hearing impairment

Disease Ontology : 12 An autosomal recessive disease 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.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 123 Definition Bjornstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Epidemiology Less than fifty cases have been reported so far. Clinical description 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. Etiology Bjornstad syndrome is caused by mutations in the BCS1L gene . Mutations in this gene also cause GRACILE syndrome (see this term). Genetic counseling Bjornstad syndrome is transmitted as an autosomal recessive condition. Visit the Orphanet disease page for more resources.

OMIM : 56 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)

KEGG : 36 Bjornstad syndrome is an autosomal recessive combination of congenital sensorineural hearing loss and pili torti. It is caused by mutations in BCS1L encoding a protein that is necessary for the assembly of complex III in the mitochondria.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Bjornstad syndrome ( also known as BJS) is an autosomal recessive congenital condition involving pili... more...

Related Diseases for Bjornstad Syndrome

Diseases related to Bjornstad Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iii deficiency, nuclear type 1 29.8 UQCRB TTC19 BCS1L
2 mitochondrial metabolism disease 28.3 UQCRB TTC19 MT-CYB LYRM7 BCS1L
3 arima syndrome 11.3
4 pili torti, early-onset 11.3
5 crandall syndrome 11.3
6 pili torti 10.4
7 leukemia, acute myeloid 10.4
8 branchiootic syndrome 1 10.4
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
10 sensorineural hearing loss 10.4
11 myeloid leukemia 10.3
12 hepatitis b 10.3
13 pik3ca-related overgrowth syndrome 10.3
14 rapidly involuting congenital hemangioma 10.2
15 helix syndrome 10.2
16 ataxia-telangiectasia 10.2
17 telangiectasis 10.2
18 47,xyy 10.2
19 48,xyyy 10.2
20 colorectal cancer 10.1
21 neuroblastoma 10.1
22 subacute delirium 10.1
23 chromosomal triplication 10.1
24 hypoxia 10.1
25 gracile syndrome 10.1
26 autosomal recessive disease 10.1
27 mitochondrial disorders 10.1
28 esophageal cancer 10.0
29 rheumatoid arthritis 10.0
30 varicose veins 10.0
31 myeloma, multiple 10.0
32 ataxia and polyneuropathy, adult-onset 10.0
33 body mass index quantitative trait locus 1 10.0
34 lung cancer susceptibility 3 10.0
35 diffuse large b-cell lymphoma 10.0
36 dermatomyositis 10.0
37 endocarditis 10.0
38 sarcoma 10.0
39 t cell deficiency 10.0
40 childhood type dermatomyositis 10.0
41 mitral valve stenosis 10.0
42 calcinosis 10.0
43 exostosis 10.0
44 hemangioma 10.0
45 severe acute respiratory syndrome 10.0
46 liver disease 10.0
47 spindle cell sarcoma 10.0
48 liver cirrhosis 10.0
49 epithelioid sarcoma 10.0
50 b-cell lymphoma 10.0

Graphical network of the top 20 diseases related to Bjornstad Syndrome:



Diseases related to Bjornstad Syndrome

Symptoms & Phenotypes for Bjornstad Syndrome

Human phenotypes related to Bjornstad Syndrome:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 brittle hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002299
4 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
5 hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000135
6 coarse hair 31 HP:0002208
7 anhidrosis 31 HP:0000970
8 pili torti 31 HP:0003777
9 dry hair 31 HP:0011359
10 hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 31 HP:0003329

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
anhidrosis

Neurologic Central Nervous System:
mental retardation (in some patients)

Head And Neck Eyes:
light-colored eyes

Skin Nails Hair Hair:
pili torti
brittle hair
loss of hair
sparse, short hair growth
hair lacks pigment

Head And Neck Ears:
hearing loss, sensorineural progressive

Genitourinary:
hypogonadism (in some patients)

Clinical features from OMIM:

262000

Drugs & Therapeutics for Bjornstad Syndrome

Search Clinical Trials , NIH Clinical Center for Bjornstad Syndrome

Genetic Tests for Bjornstad Syndrome

Genetic tests related to Bjornstad Syndrome:

# Genetic test Affiliating Genes
1 Pili Torti-Deafness Syndrome 29 BCS1L

Anatomical Context for Bjornstad Syndrome

MalaCards organs/tissues related to Bjornstad Syndrome:

40
Liver, Lung, Myeloid, Skin, Eye, Brain, Monocytes

Publications for Bjornstad Syndrome

Articles related to Bjornstad Syndrome:

(show all 16)
# Title Authors PMID Year
1
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 61 56 6
24172246 2013
2
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. 61 56 6
9545407 1998
3
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 56 6
17314340 2007
4
Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature. 56
10694305 2000
5
Hair and skin disorders as signs of mitochondrial disease. 56
9925836 1999
6
Björnstad syndrome in a patient with mental retardation. 56
9777342 1998
7
Sensorineural hearing loss and pili torti. 56
426441 1979
8
A familial syndrome of deafness, alopecia, and hypogonadism. 56
4698933 1973
9
Pili torti and sensory neural hearing loss. 56
6019757 1967
10
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. 61
28322498 2017
11
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. 61
30226971 2016
12
[Missense mutations in the BCS1L gene in Bjornstad syndrome]. 61
18342084 2008
13
Bjornstad syndrome. 61
15345881 2004
14
Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. 61
11807445 2002
15
Pili torti with congenital deafness (Bjornstad syndrome): a case report. 61
10383781 1999
16
[Bjornstad syndrome]. 61
2666787 1989

Variations for Bjornstad Syndrome

ClinVar genetic disease variations for Bjornstad Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)SNV Pathogenic 6167 rs28937590 2:219525942-219525942 2:218661219-218661219
2 BCS1L NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)SNV Pathogenic 6170 rs121908577 2:219526569-219526569 2:218661846-218661846
3 BCS1L NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn)SNV Pathogenic 126497 rs587777278 2:219527617-219527617 2:218662894-218662894
4 BCS1L NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)SNV Pathogenic/Likely pathogenic 6169 rs121908576 2:219525876-219525876 2:218661153-218661153
5 BCS1L NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)SNV Conflicting interpretations of pathogenicity 214162 rs201454788 2:219527384-219527384 2:218662661-218662661

UniProtKB/Swiss-Prot genetic disease variations for Bjornstad Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 BCS1L p.Gly35Arg VAR_032086 rs121908579
2 BCS1L p.Arg114Trp VAR_032088 rs778769841
3 BCS1L p.Arg183His VAR_032089 rs121908577
4 BCS1L p.Arg184Cys VAR_032090 rs121908578
5 BCS1L p.Gln302Glu VAR_032091 rs145717116
6 BCS1L p.Arg306His VAR_032092 rs128081018
7 BCS1L p.Tyr301Asn VAR_072244 rs587777278

Expression for Bjornstad Syndrome

Search GEO for disease gene expression data for Bjornstad Syndrome.

Pathways for Bjornstad Syndrome

Pathways related to Bjornstad Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.56 UQCRB MT-CYB

GO Terms for Bjornstad Syndrome

Cellular components related to Bjornstad Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory chain GO:0070469 9.43 UQCRB TTC19 MT-CYB
2 mitochondrial inner membrane GO:0005743 9.43 UQCRB UQCC2 TTC19 MT-CYB LETM1 BCS1L
3 mitochondrial respiratory chain complex III GO:0005750 9.33 UQCRB MT-CYB BCS1L
4 mitochondrion GO:0005739 9.23 UQCRB UQCC2 TTC19 MTERF3 MT-CYB LYRM7

Biological processes related to Bjornstad Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex III assembly GO:0034551 9.02 UQCRB UQCC2 TTC19 LYRM7 BCS1L
2 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 8.96 UQCRB MT-CYB

Molecular functions related to Bjornstad Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquinol-cytochrome-c reductase activity GO:0008121 8.62 UQCRB MT-CYB

Sources for Bjornstad Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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