BJS
MCID: BJR001
MIFTS: 35

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 57 12 75 53 25 59 74 37 13 15 40
Pili Torti and Nerve Deafness 57 53 25 74
Pili Torti-Deafness Syndrome 25 29 6 72
Bjs 57 53 25 74
Ptd 57 25 74
Deafness and Pili Torti, Bjornstad Type 53 25
Pili Torti-Sensorineural Hearing Loss 53 25
Björnstad Syndrome 75 25
Deafness-Pili Torti-Hypogonadism Syndrome 59
Bjoernstad Syndrome 74
Ptnd 53

Characteristics:

Orphanet epidemiological data:

59
bjornstad 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:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0050677
OMIM 57 262000
KEGG 37 H00820
MESH via Orphanet 45 C537633
UMLS via Orphanet 73 C0266006
Orphanet 59 ORPHA123
MedGen 42 C0266006
UMLS 72 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 gracile syndrome and joubert syndrome with oculorenal anomalies. 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 sensorineural hearing impairment and alopecia

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

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)

KEGG : 37
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 : 74 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 : 75 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:

(showing 91, show less)
# Related Disease Score Top Affiliating Genes
1 gracile syndrome 29.3 ZNF142 BCS1L
2 joubert syndrome with oculorenal anomalies 11.3
3 pili torti, early-onset 11.3
4 crandall syndrome 11.3
5 pili torti 10.4
6 leukemia, acute myeloid 10.4
7 branchiootic syndrome 1 10.4
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
9 sensorineural hearing loss 10.4
10 myeloid leukemia 10.3
11 hepatitis b 10.3
12 pik3ca-related overgrowth syndrome 10.3
13 helix syndrome 10.2
14 ataxia-telangiectasia 10.1
15 telangiectasis 10.1
16 47,xyy 10.1
17 48,xyyy 10.1
18 rapidly involuting congenital hemangioma 10.1
19 colorectal cancer 10.1
20 neuroblastoma 1 10.1
21 chromosomal triplication 10.1
22 hypoxia 10.1
23 mitochondrial complex iii deficiency, nuclear type 1 10.1
24 autosomal recessive disease 10.1
25 mitochondrial metabolism disease 10.1
26 mitochondrial disorders 10.1
27 esophageal cancer 10.0
28 rheumatoid arthritis 10.0
29 varicose veins 10.0
30 myeloma, multiple 10.0
31 ataxia and polyneuropathy, adult-onset 10.0
32 body mass index quantitative trait locus 1 10.0
33 lung cancer susceptibility 3 10.0
34 immunodeficiency, common variable, 10 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
51 osteoarthritis 10.0
52 herpes simplex 10.0
53 non-secretory myeloma 10.0
54 hemophilia 10.0
55 plasma cell leukemia 10.0
56 triploidy 10.0
57 brain injury 10.0
58 traumatic brain injury 10.0
59 acute liver failure 10.0
60 leukemia, acute monocytic 10.0
61 parkinson disease, late-onset 10.0
62 small cell cancer of the lung 10.0
63 lung cancer 10.0
64 pancreatic cancer 10.0
65 yemenite deaf-blind hypopigmentation syndrome 10.0
66 human immunodeficiency virus type 1 10.0
67 microvascular complications of diabetes 5 10.0
68 gastric cancer 10.0
69 myelodysplastic syndrome 10.0
70 renal fibrosis 10.0
71 cerebral artery occlusion 10.0
72 pertussis 10.0
73 social phobia 10.0
74 renovascular hypertension 10.0
75 epilepsy 10.0
76 myeloproliferative neoplasm 10.0
77 unverricht-lundborg syndrome 10.0
78 infertility 10.0
79 severe combined immunodeficiency 10.0
80 peritonitis 10.0
81 monocytic leukemia 10.0
82 subacute delirium 10.0
83 stomatitis 10.0
84 keloid disorder 10.0
85 acute monoblastic leukemia 10.0
86 acute respiratory distress syndrome 10.0
87 splenomegaly 10.0
88 cytogenetically normal acute myeloid leukemia 10.0
89 hematopoietic stem cell transplantation 10.0
90 mitochondrial complex iii deficiency 9.4 ZNF142 BCS1L
91 leigh syndrome 9.2 ZNF142 BCS1L

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:

59 32 (showing 10, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
3 brittle hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002299
4 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
6 coarse hair 32 HP:0002208
7 anhidrosis 32 HP:0000970
8 pili torti 32 HP:0003777
9 dry hair 32 HP:0011359
10 hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 32 HP:0003329

Symptoms via clinical synopsis from OMIM:

57
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:

41
Skin, Eye

Publications for Bjornstad Syndrome

Articles related to Bjornstad Syndrome:

(showing 16, show less)
# Title Authors PMID Year
1
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 38 8 71
24172246 2013
2
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. 38 8 71
9545407 1998
3
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 8 71
17314340 2007
4
Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature. 8
10694305 2000
5
Hair and skin disorders as signs of mitochondrial disease. 8
9925836 1999
6
Björnstad syndrome in a patient with mental retardation. 8
9777342 1998
7
Sensorineural hearing loss and pili torti. 8
426441 1979
8
A familial syndrome of deafness, alopecia, and hypogonadism. 8
4698933 1973
9
Pili torti and sensory neural hearing loss. 8
6019757 1967
10
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. 38
28322498 2017
11
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. 38
30226971 2016
12
[Missense mutations in the BCS1L gene in Bjornstad syndrome]. 38
18342084 2008
13
Bjornstad syndrome. 38
15345881 2004
14
Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. 38
11807445 2002
15
Pili torti with congenital deafness (Bjornstad syndrome): a case report. 38
10383781 1999
16
[Bjornstad syndrome]. 38
2666787 1989

Variations for Bjornstad Syndrome

ClinVar genetic disease variations for Bjornstad Syndrome:

6 (showing 5, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BCS1L NM_001257342.2(BCS1L): c.232A> G (p.Ser78Gly) single nucleotide variant Pathogenic rs28937590 2:219525942-219525942 2:218661219-218661219
2 BCS1L NM_001079866.2(BCS1L): c.548G> A (p.Arg183His) single nucleotide variant Pathogenic rs121908577 2:219526569-219526569 2:218661846-218661846
3 BCS1L NM_001079866.2(BCS1L): c.901T> A (p.Tyr301Asn) single nucleotide variant Pathogenic rs587777278 2:219527617-219527617 2:218662894-218662894
4 BCS1L NM_001257342.2(BCS1L): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908576 2:219525876-219525876 2:218661153-218661153
5 BCS1L NM_001079866.2(BCS1L): c.871C> T (p.Arg291Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201454788 2:219527384-219527384 2:218662661-218662661

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

74 (showing 7, show less)
# 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

GO Terms for Bjornstad Syndrome

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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