Bjornstad Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases Neuronal diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁵⁸

Rare skin diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹¹ DOID:0050677

OMIM® ⁵⁷ 262000

MeSH ⁴³ C537633 D006201 D006319

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

SNOMED-CT via HPO ⁶⁹ 14662005 17170005 228156007 more

UMLS ⁷¹ C0266006

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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...

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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:

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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)

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Drugs & Therapeutics for Bjornstad Syndrome

Search Clinical Trials, NIH Clinical Center for Bjornstad Syndrome

Cochrane evidence based reviews: bjornstad syndrome

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Genetic Tests for Bjornstad Syndrome

Genetic tests related to Bjornstad Syndrome:

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

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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

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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	Siddiqi S...Schraders M	24172246	2013
2	Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. ⁶² ⁵⁷ ⁵	Hinson JT...Seidman CE	17314340	2007
3	The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. ⁶² ⁵⁷ ⁵	Lubianca Neto JF...Seidman JG	9545407	1998
4	Björnstad syndrome in a patient with mental retardation. ⁶² ⁵⁷	Van Buggenhout G...Fryns JP	9777342	1998
5	Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature. ⁵⁷	Selvaag E	10694305	2000
6	Hair and skin disorders as signs of mitochondrial disease. ⁵⁷	Bodemer C...de Prost Y	9925836	1999
7	Sensorineural hearing loss and pili torti. ⁵⁷	Cremers CW...Geerts SJ	426441	1979
8	A familial syndrome of deafness, alopecia, and hypogonadism. ⁵⁷	Crandall BF...Wright SW	4698933	1973
9	Pili torti and sensory neural hearing loss. ⁵⁷	Robinson GC...Johnston MM	6019757	1967
10	Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome. ⁶²	Guo W...Shao L	35960161	2022
11	Room-Temperature Synthesis of Sub-2 nm Ultrasmall Platinum-Rare-Earth Metal Nanoalloys for Hydrogen Evolution Reaction. ⁶²	Guan C...Feng H	35976031	2022
12	Crystal Facet-Manipulated 2D Pt Nanodendrites to Achieve an Intimate Heterointerface for Hydrogen Evolution Reactions. ⁶²	Hong YR...Lee IS	35486818	2022
13	Total Laryngectomy: A Review of Surgical Techniques. ⁶²	Chotipanich A	34707956	2021
14	Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. ⁶²	Hoffmann A...Rudnicka L	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	Liu X...Chen C	33126389	2020
16	The declining role of post-treatment neck dissection in human papillomavirus-associated oropharyngeal cancer. ⁶²	Daniels CP...Porceddu SV	32798595	2020
17	BacSJ-Another Bacteriocin with Distinct Spectrum of Activity that Targets Man-PTS. ⁶²	Tymoszewska A...Aleksandrzak-Piekarczyk T	33113989	2020
18	Para-tracheal neck dissection - is dissection of the upper part of level Ⅵ necessary? ⁶²	Khafif A...Yosef LM	33073212	2020
19	Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome). ⁶²	Della Marina A...Wortmann SB	32395403	2020
20	Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. ⁶²	Olahova M...Sayer JA	31435670	2019
21	Elective Paratracheal Lymph Node Dissection in Salvage Laryngectomy. ⁶²	Farlow JL...Spector ME	30830535	2019
22	Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. ⁶²	Baker RA...Mark PR	30582773	2019
23	Characterisation of the action mechanism of a Lactococcus-specific bacteriocin, lactococcin Z. ⁶²	Daba GM...Sonomoto K	29929768	2018
24	Management of paratracheal lymph nodes in laryngeal cancer with subglottic involvement. ⁶²	Lucioni M...Rizzotto G	28960661	2018
25	Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome. ⁶²	Shigematsu Y...Niizeki H	28105683	2017
26	Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. ⁶²	Falco M...Iolascon A	28322498	2017
27	Morphological analyses in fragility of pili torti with Björnstad syndrome. ⁶²	Marubashi Y...Watanabe D	27882597	2017
28	Disappearance of Anopheles minimus and Anopheles dirus from Certain Malaria Endemic Areas of Assam, India. ⁶²	Yadav K...Veer V	29026850	2017
29	Sural artery perforator flap with posterior tibial neurovascular decompression for recurrent foot ulcer in leprosy patients. ⁶²	Ismail HE...El Fahar MH	28194322	2017
30	A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. ⁶²	Akduman H...Arsan S	30226971	2016
31	Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. ⁶²	Zhang J...Tang Z	25895478	2015
32	A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. ⁶²	Yanagishita T...Watanabe D	24236502	2014
33	An algorithmic approach to posttraumatic nail deformities based on anatomical classification. ⁶²	Rai A...Baranwal S	24513561	2014
34	Clinical and biochemical features associated with BCS1L mutation. ⁶²	Al-Owain M...Kaya N	22991165	2013
35	Incidence of neoplastic disease following lung transplantation: a 17-year single-center experience. ⁶²	Pellegrini C...Vigano M	21620076	2011
36	Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. ⁶²	Moran M...Ugalde C	20518024	2010
37	Paratracheal node dissection for well-differentiated cancer of the thyroid: indications, technique and results. ⁶²	Ferlito A...Khafif A	18242907	2008
38	[Missense mutations in the BCS1L gene in Bjornstad syndrome]. ⁶²	Dereure O	18342084	2008
39	Bjornstad syndrome. ⁶²	Aggarwal D...Anand VK	15345881	2004
40	Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. ⁶²	Richards KA...Mancini AJ	11807445	2002
41	[Imaging evaluation and interventional therapy of hepatic metastases from small intestinal leiomyosarcoma]. ⁶²	Liu R...Shao G	11782295	2001
42	Pili torti with congenital deafness (Bjornstad syndrome): a case report. ⁶²	Loche F...Schwarze HP	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	Ciccarelli E...Alvarez F	8477700	1993
44	[Bjornstad syndrome]. ⁶²	Baptista A...Resende C	2666787	1989
45	Björnstad syndrome and pili torti. ⁶²	Scott MJ...Esterly NB	6679889	1983

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Genes for Bjornstad Syndrome

Genes related to Bjornstad Syndrome (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BCS1L	BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone	Protein Coding	1699.33	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name (show sections)	9545407 17314340 24172246 (more) 24236502
2	H2AC18	H2A Clustered Histone 18	Protein Coding	6.08	DISEASES inferred ¹⁴ ¹⁴
3	RUSF1	RUS Family Member 1	Protein Coding	5.92	DISEASES inferred ¹⁴
4	CELSR3	Cadherin EGF LAG Seven-Pass G-Type Receptor 3	Protein Coding	5.5	DISEASES inferred ¹⁴
5	MT-TF	Mitochondrially Encoded TRNA-Phe (UUU/C)	RNA Gene	5.07	DISEASES inferred ¹⁴
6	WWC1	WW And C2 Domain Containing 1	Protein Coding	5.06	DISEASES inferred ¹⁴
7	COX7B	Cytochrome C Oxidase Subunit 7B	Protein Coding	5.04	DISEASES inferred ¹⁴
8	MT-TH	Mitochondrially Encoded TRNA-His (CAU/C)	RNA Gene	5	DISEASES inferred ¹⁴
9	UQCRB	Ubiquinol-Cytochrome C Reductase Binding Protein	Protein Coding	5	DISEASES inferred ¹⁴
10	HCCS	Holocytochrome C Synthase	Protein Coding	4.97	DISEASES inferred ¹⁴
11	PTER	Phosphotriesterase Related	Protein Coding	4.95	DISEASES inferred ¹⁴
12	TASP1	Taspase 1	Protein Coding	4.91	DISEASES inferred ¹⁴
13	ABCC2	ATP Binding Cassette Subfamily C Member 2	Protein Coding	4.87	DISEASES inferred ¹⁴
14	SPX	Spexin Hormone	Protein Coding	4.81	DISEASES inferred ¹⁴
15	NIPBL	NIPBL Cohesin Loading Factor	Protein Coding	4.76	DISEASES inferred ¹⁴
16	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	4.73	DISEASES inferred ¹⁴

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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

Sources

Expression for Bjornstad Syndrome

Search GEO for disease gene expression data for Bjornstad Syndrome.

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Pathways for Bjornstad Syndrome

Pathways related to Bjornstad Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Mitochondrial complex III assembly ⁷⁴	9.8	UQCRB BCS1L

Sources

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

Sources for Bjornstad Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

BJS MCID: BJR001 MIFTS: 43	Bjornstad Syndrome (BJS) Categories: Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Bjornstad Syndrome (BJS)

Aliases & Classifications for Bjornstad Syndrome

MalaCards integrated aliases for Bjornstad Syndrome:

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OMIM®:

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Summaries for Bjornstad Syndrome

Related Diseases for Bjornstad Syndrome

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

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

Symptoms & Phenotypes for Bjornstad Syndrome

Human phenotypes related to Bjornstad Syndrome:

Symptoms via clinical synopsis from OMIM®:

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Drugs & Therapeutics for Bjornstad Syndrome

Cochrane evidence based reviews: bjornstad syndrome

Genetic Tests for Bjornstad Syndrome

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Anatomical Context for Bjornstad Syndrome

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Genes for Bjornstad Syndrome

Genes related to Bjornstad Syndrome (1 elite genes):

Variations for Bjornstad Syndrome

ClinVar genetic disease variations for Bjornstad Syndrome:

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

Expression for Bjornstad Syndrome

Pathways for Bjornstad Syndrome

Pathways related to Bjornstad Syndrome according to GeneCards Suite gene sharing:

GO Terms for Bjornstad Syndrome

Cellular components related to Bjornstad Syndrome according to GeneCards Suite gene sharing:

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

Sources for Bjornstad Syndrome