Disease Browser
|
Parent Node: Hair Diseases (D006201) | Parent Node: Hearing Loss, Sensorineural (D006319) | Parent Node: Mitochondrial Diseases (D028361) | ..Starting node ..Bjornstad syndrome (C537633)
| Child Nodes:
|
Sister Nodes: | ..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
| ..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
| ..Ataxia and Polyneuropathy, Adult-Onset (C564020)
| ..Ataxia Neuropathy Spectrum (C579922)
| ..Bjornstad syndrome (C537633)
| ..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
| ..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
| ..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)
| ..Childhood Myocerebrohepatopathy Spectrum (C579990)
| ..Coenzyme Q10 Deficiency (C564403)
| ..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
| ..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
| ..Cowden-Like Syndrome (C567337)
| ..Cytochrome-c Oxidase Deficiency (D030401) 2
| ..Deoxyguanosine Kinase Deficiency (C580039)
| ..Finnish lethal neonatal metabolic syndrome (C537934)
| ..Friedreich Ataxia (D005621) 6
| ..Hypermetabolism due to Defect in Mitochondria (C565498)
| ..Hypomyelination, Global Cerebral (C567847)
| ..Hypotonia-Cystinuria Syndrome (C564710)
| ..Kearns-Sayre Syndrome (D007625) 1
| ..Leigh Disease (D007888) 12
| ..Leukodystrophy, Hypomyelinating, 4 (C567390)
| ..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
| ..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
| ..Mitochondrial complex I deficiency (C537475)
| ..Mitochondrial Complex II Deficiency (C565375)
| ..Mitochondrial Complex III Deficiency (C565128)
| ..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)
| ..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
| ..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
| ..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
| ..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
| ..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
| ..Mitochondrial Myopathies (D017240) 33
| ..Mitochondrial Phosphate Carrier Deficiency (C563665)
| ..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
| ..Multiple Mitochondrial Dysfunctions Syndrome (C565304)
| ..MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
| ..Myopathy with Giant Abnormal Mitochondria (C564971)
| ..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
| ..Navajo neurohepatopathy (C538344) 1
| ..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
| ..Optic Atrophy, Autosomal Dominant (D029241)
| ..Optic Atrophy, Hereditary, Leber (D029242) 1
| ..Parkinson Disease, Mitochondrial (C564015)
| ..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
| ..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
| ..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
| ..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
| ..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
| ..Pyruvate Carboxylase Deficiency Disease (D015324) 1
| ..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
| ..Sarcosinemia (C537236)
| ..Spinocerebellar Ataxia with Epilepsy (C564395)
| ..Succinate-Coa Ligase Deficiency (C580473)
| ..VDAC Deficiency (C565767)
| ..VLCAD deficiency (C536353)
| ..Wolfram 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 | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004328.4(BCS1L):c.548G>A (p.Arg183His) | 617 | BCS1L | Pathogenic | 121908577 | RCV000006545; | N | MedGen:C0266006,OMIM:262000,ORPHA:123,SNOMED CT:67817003 | 2 | 219526569 | 219526569 | NM_004328.4:c.548G>A | NP_004319.1:p.Arg183His | NC_000002.11:g.219526569G>A | OMIM Allelic Variant:603647.0008 | C0266006 262000 Pili torti-deafness syndrome | | | NM_001257344.1(BCS1L):c.901T>A (p.Tyr301Asn) | 617 | BCS1L | Pathogenic | 587777278 | RCV000114392; | N | MedGen:C0266006,OMIM:262000,ORPHA:123,SNOMED CT:67817003 | 2 | 219527617 | 219527617 | NM_001257344.1:c.901T>A | NP_001244273.1:p.Tyr301Asn | 2:g.219527617T>A | OMIM Allelic Variant:603647.0013 | C0266006 262000 Pili torti-deafness syndrome | | |
|
|