MCID: BJR001
MIFTS: 32

Bjornstad Syndrome

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

Aliases & Classifications for Bjornstad Syndrome

MalaCards integrated aliases for Bjornstad Syndrome:

Name: Bjornstad Syndrome 57 12 53 25 75 37 13 15 40 76 25 59
Pili Torti and Nerve Deafness 57 53 25 75
Pili Torti-Deafness Syndrome 25 29 6 73
Bjs 57 53 25 75
Ptd 57 25 75 3
Deafness and Pili Torti, Bjornstad Type 53 25
Pili Torti-Sensorineural Hearing Loss 53 25
Deafness-Pili Torti-Hypogonadism Syndrome 59
Bjoernstad Syndrome 75
Ptnd 53

Characteristics:

Orphanet epidemiological data:

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


Classifications:



External Ids:

OMIM 57 262000
Disease Ontology 12 DOID:0050677
Orphanet 59 ORPHA123
MESH via Orphanet 45 C537633
UMLS via Orphanet 74 C0266006
MedGen 42 C0266006
KEGG 37 H00820
UMLS 73 C0266006

Summaries for Bjornstad Syndrome

NIH Rare Diseases : 53 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.

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 intellectual disability and sensorineural hearing impairment

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)

UniProtKB/Swiss-Prot : 75 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.

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.

Wikipedia : 76 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 15)
# Related Disease Score Top Affiliating Genes
1 pili torti, early-onset 11.0
2 crandall syndrome 11.0
3 leukemia, acute myeloid 10.2
4 leukemia 10.2
5 myeloid leukemia 10.2
6 pili torti 10.1
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
8 sensorineural hearing loss 10.0
9 neuroblastoma 9.8
10 keloids 9.8
11 pertussis 9.8
12 stomatitis 9.8
13 gracile syndrome 9.3 BCS1L ZNF142
14 mitochondrial complex iii deficiency 9.2 BCS1L ZNF142
15 leigh syndrome 9.0 BCS1L ZNF142

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:

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

Human phenotypes related to Bjornstad Syndrome:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
4 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
5 brittle hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002299
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

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:

# 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:

75
# 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_004328.4(BCS1L): c.548G> A (p.Arg183His) single nucleotide variant Pathogenic rs121908577 GRCh37 Chromosome 2, 219526569: 219526569
2 BCS1L NM_004328.4(BCS1L): c.548G> A (p.Arg183His) single nucleotide variant Pathogenic rs121908577 GRCh38 Chromosome 2, 218661846: 218661846
3 BCS1L NM_001257344.1(BCS1L): c.901T> A (p.Tyr301Asn) single nucleotide variant Pathogenic rs587777278 GRCh37 Chromosome 2, 219527617: 219527617
4 BCS1L NM_001257344.1(BCS1L): c.901T> A (p.Tyr301Asn) single nucleotide variant Pathogenic rs587777278 GRCh38 Chromosome 2, 218662894: 218662894
5 BCS1L NM_004328.4(BCS1L): c.871C> T (p.Arg291Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201454788 GRCh37 Chromosome 2, 219527384: 219527384
6 BCS1L NM_004328.4(BCS1L): c.871C> T (p.Arg291Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201454788 GRCh38 Chromosome 2, 218662661: 218662661

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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