BJS
MCID: BJR001
MIFTS: 34

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 58 12 77 54 26 76 38 13 15 41
Pili Torti and Nerve Deafness 58 54 26 76
Pili Torti-Deafness Syndrome 26 30 6 74
Bjs 58 54 26 76
Ptd 58 26 76 3
Björnstad Syndrome 77 26 60
Deafness and Pili Torti, Bjornstad Type 54 26
Pili Torti-Sensorineural Hearing Loss 54 26
Deafness-Pili Torti-Hypogonadism Syndrome 60
Bjoernstad Syndrome 76
Ptnd 54

Characteristics:

Orphanet epidemiological data:

60
björnstad syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
bjornstad syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050677
OMIM 58 262000
KEGG 38 H00820
MESH via Orphanet 46 C537633
UMLS via Orphanet 75 C0266006
Orphanet 60 ORPHA123
MedGen 43 C0266006
UMLS 74 C0266006

Summaries for Bjornstad Syndrome

NIH Rare Diseases : 54 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.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.EtiologyBjörnstad syndrome is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome (see this term).Genetic counselingBjörnstad syndrome is transmitted as an autosomal recessive condition.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 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.

Genetics Home Reference : 26 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.

OMIM : 58 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)

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.

UniProtKB/Swiss-Prot : 76 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 : 77 Björnstad syndrome is an autosomal recessive congenital condition involving pili torti and nerve... more...

Related Diseases for Bjornstad Syndrome

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 pili torti, early-onset 11.1
2 crandall syndrome 11.1
3 joubert syndrome with oculorenal anomalies 11.1
4 leukemia 10.4
5 leukemia, acute myeloid 10.3
6 myeloid leukemia 10.3
7 pili torti 10.3
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
9 sensorineural hearing loss 10.2
10 hepatitis 10.1
11 hepatitis b 10.1
12 polymyositis 10.1
13 prostate cancer 10.1
14 prostate cancer, hereditary, 8 10.1
15 prostate cancer, hereditary, 6 10.1
16 pemphigus foliaceus 10.1
17 retinoblastoma 10.0
18 neuroblastoma 10.0
19 pertussis 10.0
20 renovascular hypertension 10.0
21 myeloproliferative neoplasm 10.0
22 subacute delirium 10.0
23 stomatitis 10.0
24 acute respiratory distress syndrome 10.0
25 chromosomal triplication 10.0
26 radin blood group antigen 9.9
27 hepatocellular carcinoma 9.9
28 esophageal cancer 9.9
29 rheumatoid arthritis 9.9
30 varicose veins 9.9
31 lung cancer 9.9
32 body mass index quantitative trait locus 1 9.9
33 analbuminemia 9.9
34 arthritis 9.9
35 brain injury 9.9
36 childhood type dermatomyositis 9.9
37 traumatic brain injury 9.9
38 dermatomyositis 9.9
39 sarcoma 9.9
40 calcinosis 9.9
41 severe acute respiratory syndrome 9.9
42 epithelioid sarcoma 9.9
43 hemophilia 9.9
44 gracile syndrome 9.7 BCS1L ZNF142
45 mitochondrial complex iii deficiency 9.6 BCS1L ZNF142
46 leigh syndrome 9.5 BCS1L ZNF142

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:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
2 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
3 brittle hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002299
4 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
5 hypogonadism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000135
6 coarse hair 33 HP:0002208
7 anhidrosis 33 HP:0000970
8 pili torti 33 HP:0003777
9 dry hair 33 HP:0011359
10 hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 33 HP:0003329

Symptoms via clinical synopsis from OMIM:

58
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 30 BCS1L

Anatomical Context for Bjornstad Syndrome

MalaCards organs/tissues related to Bjornstad Syndrome:

42
Skin, Eye

Publications for Bjornstad Syndrome

Articles related to Bjornstad Syndrome:

# Title Authors Year
1
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. ( 28322498 )
2017
2
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. ( 24172246 )
2013
3
Bjornstad syndrome. ( 15345881 )
2004
4
Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. ( 11807445 )
2002
5
Pili torti with congenital deafness (Bjornstad syndrome): a case report. ( 10383781 )
1999
6
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. ( 9545407 )
1998

Variations for Bjornstad Syndrome

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

76
# 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

ClinVar genetic disease variations for Bjornstad Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BCS1L NM_004328.4(BCS1L): c.871C> T (p.Arg291Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201454788 GRCh37 Chromosome 2, 219527384: 219527384
2 BCS1L NM_004328.4(BCS1L): c.871C> T (p.Arg291Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201454788 GRCh38 Chromosome 2, 218662661: 218662661
3 BCS1L NM_004328.4(BCS1L): c.548G> A (p.Arg183His) single nucleotide variant Pathogenic rs121908577 GRCh37 Chromosome 2, 219526569: 219526569
4 BCS1L NM_004328.4(BCS1L): c.548G> A (p.Arg183His) single nucleotide variant Pathogenic rs121908577 GRCh38 Chromosome 2, 218661846: 218661846
5 BCS1L NM_001257344.1(BCS1L): c.901T> A (p.Tyr301Asn) single nucleotide variant Pathogenic rs587777278 GRCh37 Chromosome 2, 219527617: 219527617
6 BCS1L NM_001257344.1(BCS1L): c.901T> A (p.Tyr301Asn) single nucleotide variant Pathogenic rs587777278 GRCh38 Chromosome 2, 218662894: 218662894

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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