BJS
MCID: BJR001
MIFTS: 43

Bjornstad Syndrome (BJS)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Bjornstad Syndrome

MalaCards integrated aliases for Bjornstad Syndrome:

Name: Bjornstad Syndrome 57 11 19 42 58 75 73 12 43 14 38
Bjs 57 11 19 42 73
Pili Torti and Nerve Deafness 57 19 42 73
Pili Torti-Deafness Syndrome 42 28 5 71
Ptd 57 11 42 73
Deafness-Pili Torti-Hypogonadism Syndrome 11 58
Deafness and Pili Torti, Bjornstad Type 19 42
Pili Torti-Sensorineural Hearing Loss 19 42
Björnstad Syndrome 42 75
Hearing Loss-Pili Torti-Hypogonadism Syndrome 58
Bjoernstad Syndrome 73
Ptnd 19

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

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:

Orphanet: 58  
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0050677
OMIM® 57 262000
SNOMED-CT 68 67817003
MESH via Orphanet 44 C537633
ICD10 via Orphanet 32 E88.8
UMLS via Orphanet 72 C0266006
Orphanet 58 ORPHA123
MedGen 40 C0266006
UMLS 71 C0266006

Summaries for Bjornstad Syndrome

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...

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 117)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iii deficiency, nuclear type 1 30.2 UQCRB BCS1L
2 gracile syndrome 30.2 UQCRB BCS1L
3 pili torti, early-onset 11.1
4 crandall syndrome 11.1
5 leukemia, acute myeloid 10.4
6 acute myeloid leukemia with recurrent genetic anomaly 10.4
7 sensorineural hearing loss 10.3
8 myeloid leukemia 10.3
9 isolated complex iii deficiency 10.2 UQCRB BCS1L
10 combined oxidative phosphorylation deficiency 6 10.2 COX7B BCS1L
11 leukemia 10.2
12 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities 10.2 MT-TH MT-TF
13 hermaphroditism 10.1 MT-TH MT-TF
14 linear skin defects with multiple congenital anomalies 3 10.1 HCCS COX7B
15 orbital cyst 10.1 HCCS COX7B
16 microphthalmia, syndromic 2 10.1 HCCS H2AC18
17 rapp-hodgkin syndrome 10.1 RUSF1 H2AC18
18 subacute delirium 10.1
19 microphthalmia, syndromic 1 10.1 HCCS H2AC18
20 myelodysplastic syndrome 10.0
21 helix syndrome 10.0
22 fetal anticonvulsant syndrome 10.0
23 linear skin defects with multiple congenital anomalies 2 10.0 HCCS COX7B BCS1L
24 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
25 leigh syndrome 10.0
26 alopecia 10.0
27 mitochondrial disease 10.0
28 hypoascorbemia 10.0
29 west syndrome 10.0
30 mitochondrial complex iii deficiency 10.0
31 lactic acidosis 10.0
32 colorectal cancer 10.0
33 lung cancer 10.0
34 myocardial infarction 10.0
35 thalassemia 10.0
36 acute leukemia 10.0
37 ischemia 10.0
38 gestational trophoblastic neoplasm 10.0
39 neuroblastoma 10.0
40 varicose veins 9.9
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
42 enterocele 9.9
43 exostosis 9.9
44 severe acute respiratory syndrome 9.9
45 osteoarthritis 9.9
46 sclerocornea 9.9 HCCS COX7B
47 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.9 MT-TH MT-TF COX7B BCS1L
48 chronic atrial and intestinal dysrhythmia 9.9 NIPBL H2AC18
49 dysentery 9.9 MT-TH H2AC18
50 roberts-sc phocomelia syndrome 9.8 NIPBL H2AC18

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 30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000407
2 alopecia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001596
3 brittle hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002299
4 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
5 hypogonadism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000135
6 pili torti 30 Very rare (1%) HP:0003777
7 anhidrosis 30 Very rare (1%) HP:0000970
8 coarse hair 30 HP:0002208
9 dry hair 30 HP:0011359
10 hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 30 HP:0003329

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Hair:
pili torti
brittle hair
loss of hair
sparse, short hair growth
hair lacks pigment

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

Head And Neck Eyes:
light-colored eyes

Skin Nails Hair Skin:
anhidrosis

Head And Neck Ears:
hearing loss, sensorineural progressive

Genitourinary:
hypogonadism (in some patients)

Clinical features from OMIM®:

262000 (Updated 08-Dec-2022)

Drugs & Therapeutics for Bjornstad Syndrome

Search Clinical Trials, NIH Clinical Center for Bjornstad Syndrome

Cochrane evidence based reviews: bjornstad syndrome

Genetic Tests for Bjornstad Syndrome

Genetic tests related to Bjornstad Syndrome:

# Genetic test Affiliating Genes
1 Pili Torti-Deafness Syndrome 28 BCS1L

Anatomical Context for Bjornstad Syndrome

Organs/tissues related to Bjornstad Syndrome:

MalaCards : Skin, Skeletal Muscle, Ovary, Liver, Testis, Kidney, Brain
ODiseA: Testis, Brain, Skeletal Muscle, Liver, Ovary, Skin, Kidney

Publications for Bjornstad Syndrome

Articles related to Bjornstad Syndrome:

(show all 45)
# Title Authors PMID Year
1
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 62 57 5
24172246 2013
2
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 62 57 5
17314340 2007
3
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. 62 57 5
9545407 1998
4
Björnstad syndrome in a patient with mental retardation. 62 57
9777342 1998
5
Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature. 57
10694305 2000
6
Hair and skin disorders as signs of mitochondrial disease. 57
9925836 1999
7
Sensorineural hearing loss and pili torti. 57
426441 1979
8
A familial syndrome of deafness, alopecia, and hypogonadism. 57
4698933 1973
9
Pili torti and sensory neural hearing loss. 57
6019757 1967
10
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome. 62
35960161 2022
11
Room-Temperature Synthesis of Sub-2 nm Ultrasmall Platinum-Rare-Earth Metal Nanoalloys for Hydrogen Evolution Reaction. 62
35976031 2022
12
Crystal Facet-Manipulated 2D Pt Nanodendrites to Achieve an Intimate Heterointerface for Hydrogen Evolution Reactions. 62
35486818 2022
13
Total Laryngectomy: A Review of Surgical Techniques. 62
34707956 2021
14
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. 62
34501349 2021
15
A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report. 62
33126389 2020
16
The declining role of post-treatment neck dissection in human papillomavirus-associated oropharyngeal cancer. 62
32798595 2020
17
BacSJ-Another Bacteriocin with Distinct Spectrum of Activity that Targets Man-PTS. 62
33113989 2020
18
Para-tracheal neck dissection - is dissection of the upper part of level Ⅵ necessary? 62
33073212 2020
19
Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome). 62
32395403 2020
20
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. 62
31435670 2019
21
Elective Paratracheal Lymph Node Dissection in Salvage Laryngectomy. 62
30830535 2019
22
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. 62
30582773 2019
23
Characterisation of the action mechanism of a Lactococcus-specific bacteriocin, lactococcin Z. 62
29929768 2018
24
Management of paratracheal lymph nodes in laryngeal cancer with subglottic involvement. 62
28960661 2018
25
Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome. 62
28105683 2017
26
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. 62
28322498 2017
27
Morphological analyses in fragility of pili torti with Björnstad syndrome. 62
27882597 2017
28
Disappearance of Anopheles minimus and Anopheles dirus from Certain Malaria Endemic Areas of Assam, India. 62
29026850 2017
29
Sural artery perforator flap with posterior tibial neurovascular decompression for recurrent foot ulcer in leprosy patients. 62
28194322 2017
30
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. 62
30226971 2016
31
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 62
25895478 2015
32
A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. 62
24236502 2014
33
An algorithmic approach to posttraumatic nail deformities based on anatomical classification. 62
24513561 2014
34
Clinical and biochemical features associated with BCS1L mutation. 62
22991165 2013
35
Incidence of neoplastic disease following lung transplantation: a 17-year single-center experience. 62
21620076 2011
36
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. 62
20518024 2010
37
Paratracheal node dissection for well-differentiated cancer of the thyroid: indications, technique and results. 62
18242907 2008
38
[Missense mutations in the BCS1L gene in Bjornstad syndrome]. 62
18342084 2008
39
Bjornstad syndrome. 62
15345881 2004
40
Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. 62
11807445 2002
41
[Imaging evaluation and interventional therapy of hepatic metastases from small intestinal leiomyosarcoma]. 62
11782295 2001
42
Pili torti with congenital deafness (Bjornstad syndrome): a case report. 62
10383781 1999
43
Intracellular retention and degradation of human mutant variant of a alpha 1-antitrypsin in stably transfected Chinese hamster ovary cell lines. 62
8477700 1993
44
[Bjornstad syndrome]. 62
2666787 1989
45
Björnstad syndrome and pili torti. 62
6679889 1983

Variations for Bjornstad Syndrome

ClinVar genetic disease variations for Bjornstad Syndrome:

5 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCS1L NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) SNV Pathogenic
6170 rs121908577 GRCh37: 2:219526569-219526569
GRCh38: 2:218661846-218661846
2 BCS1L NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn) SNV Pathogenic
126497 rs587777278 GRCh37: 2:219527617-219527617
GRCh38: 2:218662894-218662894
3 BCS1L NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) SNV Pathogenic
6169 rs121908576 GRCh37: 2:219525876-219525876
GRCh38: 2:218661153-218661153
4 BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) SNV Pathogenic
6167 rs28937590 GRCh37: 2:219525942-219525942
GRCh38: 2:218661219-218661219
5 BCS1L NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) SNV Pathogenic/Likely Pathogenic
214162 rs201454788 GRCh37: 2:219527384-219527384
GRCh38: 2:218662661-218662661
6 BCS1L NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp) SNV Likely Pathogenic
1455942 GRCh37: 2:219526148-219526148
GRCh38: 2:218661425-218661425
7 BCS1L NM_001079866.2(BCS1L):c.402_403insTT (p.Val135fs) INSERT Likely Pathogenic
1726226 GRCh37: 2:219526209-219526210
GRCh38: 2:218661486-218661487
8 BCS1L NM_001079866.2(BCS1L):c.476T>A (p.Leu159Ter) SNV Likely Pathogenic
1725149 GRCh37: 2:219526497-219526497
GRCh38: 2:218661774-218661774
9 BCS1L NM_001079866.2(BCS1L):c.702C>A (p.Cys234Ter) SNV Likely Pathogenic
1725291 GRCh37: 2:219526966-219526966
GRCh38: 2:218662243-218662243
10 BCS1L NM_001079866.2(BCS1L):c.522_523del (p.Glu175fs) DEL Likely Pathogenic
1724531 GRCh37: 2:219526543-219526544
GRCh38: 2:218661820-218661821
11 BCS1L NM_001079866.2(BCS1L):c.798_799insCACCGGCCTCCACC (p.Asn267fs) INSERT Likely Pathogenic
1724751 GRCh37: 2:219527310-219527311
GRCh38: 2:218662587-218662588
12 BCS1L NM_001079866.2(BCS1L):c.308_309insTGCGG (p.His104fs) INSERT Likely Pathogenic
1724757 GRCh37: 2:219526018-219526019
GRCh38: 2:218661295-218661296
13 BCS1L NM_001079866.2(BCS1L):c.604_605insC (p.Val202fs) INSERT Likely Pathogenic
1726500 GRCh37: 2:219526625-219526626
GRCh38: 2:218661902-218661903
14 BCS1L NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) SNV Uncertain Significance
214160 rs377025174 GRCh37: 2:219525915-219525915
GRCh38: 2:218661192-218661192
15 BCS1L NM_001079866.2(BCS1L):c.134G>A (p.Arg45His) SNV Uncertain Significance
554577 rs754414354 GRCh37: 2:219525844-219525844
GRCh38: 2:218661121-218661121
16 BCS1L NM_001079866.2(BCS1L):c.1220del (p.Pro407fs) DEL Uncertain Significance
1210366 GRCh37: 2:219528067-219528067
GRCh38: 2:218663344-218663344
17 BCS1L NM_001079866.2(BCS1L):c.655+63C>T SNV Benign
676249 rs36085075 GRCh37: 2:219526739-219526739
GRCh38: 2:218662016-218662016
18 BCS1L NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) SNV Benign
136503 rs33946522 GRCh37: 2:219527712-219527712
GRCh38: 2:218662989-218662989
19 BCS1L NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) SNV Benign
136505 rs35843327 GRCh37: 2:219527866-219527866
GRCh38: 2:218663143-218663143
20 BCS1L NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) SNV Benign
136502 rs58447305 GRCh37: 2:219526649-219526649
GRCh38: 2:218661926-218661926

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 rs1457171169
6 BCS1L p.Arg306His VAR_032092 rs1280810181
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 9.8 UQCRB BCS1L

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 mitochondrial respiratory chain complex III GO:0005750 9.26 UQCRB BCS1L
2 mitochondrial respirasome GO:0005746 8.8 UQCRB COX7B

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

# Name GO ID Score Top Affiliating Genes
1 triplet codon-amino acid adaptor activity GO:0030533 8.62 MT-TH MT-TF

Sources for Bjornstad Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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