MCID: BJR001
MIFTS: 32

Bjornstad Syndrome

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

Aliases & Classifications for Bjornstad Syndrome

MalaCards integrated aliases for Bjornstad Syndrome:

Name: Bjornstad Syndrome 53 12 49 24 71 36 13 14 72 24 55
Pili Torti and Nerve Deafness 53 49 24 71
Bjs 53 49 24 71
Ptd 53 24 71 3
Pili Torti-Deafness Syndrome 24 28 69
Deafness and Pili Torti, Bjornstad Type 49 24
Pili Torti-Sensorineural Hearing Loss 49 24
Deafness-Pili Torti-Hypogonadism Syndrome 55
Bjoernstad Syndrome 71
Ptnd 49

Characteristics:

Orphanet epidemiological data:

55
björnstad syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 262000
Disease Ontology 12 DOID:0050677
Orphanet 55 ORPHA123
MESH via Orphanet 42 C537633
UMLS via Orphanet 70 C0266006
MedGen 39 C0266006
KEGG 36 H00820
UMLS 69 C0266006

Summaries for Bjornstad Syndrome

NIH Rare Diseases : 49 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. Last updated: 9/21/2007

MalaCards based summary : Bjornstad Syndrome, also known as pili torti and nerve deafness, is related to pili torti, early-onset and crandall syndrome, and has symptoms including intellectual disability, sensorineural hearing impairment and alopecia. An important gene associated with Bjornstad Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone). Affiliated tissues include skin and eye.

OMIM : 53 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 : 71 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.

Related Diseases for Bjornstad Syndrome

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 pili torti, early-onset 11.0
2 crandall syndrome 11.0
3 pili torti 10.1
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
5 sensorineural hearing loss 10.0
6 leukemia, acute myeloid 10.0
7 leukemia 10.0
8 myeloid leukemia 10.0
9 branchiootic syndrome 1 9.9
10 polykaryocytosis inducer 9.8
11 neuroblastoma 9.8
12 keloids 9.8
13 pertussis 9.8
14 stomatitis 9.8
15 chronic enteropathy associated with slco2a1 gene 9.8

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



Diseases related to Bjornstad Syndrome

Symptoms & Phenotypes for Bjornstad Syndrome

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Bjornstad Syndrome:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
2 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 alopecia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001596
4 hypogonadism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000135
5 brittle hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002299
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

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 28 BCS1L

Anatomical Context for Bjornstad Syndrome

MalaCards organs/tissues related to Bjornstad Syndrome:

38
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:

71
# 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
6 BCS1L p.Arg306His VAR_032092
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_001257344.1(BCS1L): c.901T> A (p.Tyr301Asn) single nucleotide variant Pathogenic rs587777278 GRCh37 Chromosome 2, 219527617: 219527617
2 BCS1L NM_004328.4(BCS1L): c.548G> A (p.Arg183His) single nucleotide variant Pathogenic rs121908577 GRCh37 Chromosome 2, 219526569: 219526569

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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