MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Hair Diseases (D006201)
Parent Node:
expand
Hearing Loss, Sensorineural (D006319)
Parent Node:
expand
Mitochondrial Diseases (D028361)
..Starting node
..expand
Bjornstad syndrome (C537633)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1292
Name:Bjornstad syndrome
Definition:
Alternative IDs:OMIM:262000
ParentIDs:MESH:D006201|MESH:D006319|MESH:D028361
TreeNumbers:C09.218.458.341.887/C537633 |C10.597.751.418.341.887/C537633 |C17.800.329/C537633 |C18.452.660/C537633 |C23.888.592.763.393.341.887/C537633
Synonyms:BJS |Deafness and pili torti, Bjornstad type |Pili torti and nerve deafness |Pili torti-sensorineural hearing loss |PTD
Slim Mappings:Ear-nose-throat disease|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C537633
MeSH: C537633
OMIM: 262000;
MSeqDR LSDB: 00084;  
Genes: BCS1L;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000499Abnormality of the eyelasheshallmark
3 HP:0001596Alopeciatypical
4 HP:0001596Alopecia
5 HP:0000970Anhidrosis
6 HP:0100840Aplasia/Hypoplasia of the eyebrowhallmark
7 HP:0002299Brittle hair
8 HP:0002208Coarse hair
9 HP:0011359Dry hair
10 HP:0003329Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
11 HP:0000998Hypertrichosishallmark
12 HP:0000135Hypogonadism
NAMDC:  Hypoparathyroidism
13 HP:0001249Intellectual disabilityrare
14 HP:0003777Pili tortihallmark
15 HP:0003777Pili torti
16 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
17 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
hallmark
18 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004328.4(BCS1L):c.548G>A (p.Arg183His)617BCS1LPathogenic121908577RCV000006545; NMedGen:C0266006,OMIM:262000, Orphanet:ORPHA123,SNOMED CT:678170032219526569219526569OMIM Allelic Variant:603647.0008,UniProtKB (protein):Q9Y276#VAR_032089C0266006 262000 Pili torti-deafness syndrome;
NM_004328.4(BCS1L):c.871C>T (p.Arg291Ter)617BCS1LConflicting interpretations of pathogenicity201454788RCV000368540; RCV000675151; RCV000586158; RCV000195977; NMedGen:CN239240; MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0266006,OMIM:262000, Orphanet:ORPHA123,SNOMED CT:67817003; MedGen:CN5172022219527384219527384-CN239240 BCS1L-Related Disorders;
NM_001257344.1(BCS1L):c.901T>A (p.Tyr301Asn)617BCS1LPathogenic587777278RCV000114392; NMedGen:C0266006,OMIM:262000, Orphanet:ORPHA123,SNOMED CT:678170032219527617219527617OMIM Allelic Variant:603647.0013,UniProtKB (protein):Q9Y276#VAR_072244C0266006 262000 Pili torti-deafness syndrome;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000074582 MSeqDR Search EnsemblBCS1L123BC1 (ubiquinol-cytochrome c reductase) synthesis-like [Source:HGNC Symbol;Acc:1020]00084

*Click on gene and variants to check details. Or view all variants in new page