Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHair Diseases (D006201)
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandMitochondrial Diseases (D028361)
..Starting node
..expandBjornstad syndrome (C537633)

       Child Nodes:



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

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, 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;

Genes: BCS1L;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001596Alopecia
3 HP:0000970Anhidrosis
4 HP:0002299Brittle hair
5 HP:0002208Coarse hair
6 HP:0011359Dry hair
7 HP:0003329Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
8 HP:0000135Hypogonadism
9 HP:0001249Intellectual disabilityHP:0040283
10 HP:0003777Pili torti
11 HP:0000407Sensorineural hearing impairment
12 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_004328.4(BCS1L):c.548G>A (p.Arg183His)617BCS1LPathogenic121908577RCV000006545; NMedGen:C0266006,OMIM:262000,ORPHA:123,SNOMED CT:678170032219526569219526569NM_004328.4:c.548G>ANP_004319.1:p.Arg183HisNC_000002.11:g.219526569G>AOMIM Allelic Variant:603647.0008C0266006 262000 Pili torti-deafness syndrome
NM_001257344.1(BCS1L):c.901T>A (p.Tyr301Asn)617BCS1LPathogenic587777278RCV000114392; NMedGen:C0266006,OMIM:262000,ORPHA:123,SNOMED CT:678170032219527617219527617NM_001257344.1:c.901T>ANP_001244273.1:p.Tyr301Asn2:g.219527617T>AOMIM Allelic Variant:603647.0013C0266006 262000 Pili torti-deafness syndrome