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:
expandHereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node:
expandMitochondrial Diseases (D028361)
..Starting node
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)

       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:6383
Name:Leukodystrophy, Hypomyelinating, 4
Definition:
Alternative IDs:OMIM:612233
ParentIDs:MESH:D020279|MESH:D028361
TreeNumbers:C10.228.140.163.100.362/C567390 |C10.228.140.695.625/C567390 |C10.314.400/C567390 |C10.574.500.494/C567390 |C16.320.400.367/C567390 |C16.320.565.189.362/C567390 |C18.452.132.100.362/C567390 |C18.452.648.189.362/C567390 |C18.452.660/C567390
Synonyms:HLD4 |MITCHAP60 DISEASE |Mitochondrial Hsp60 Chaperonopathy
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C567390
MeSH: C567390
OMIM: 612233;

Genes: HSPD1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003623Neonatal onset
3 HP:0002104Apnea
4 HP:0003487Babinski sign
5 HP:0001266Choreoathetosis
6 HP:0008872Feeding difficulties in infancy
7 HP:0001371Flexion contracture
8 HP:0001290Generalized hypotonia
9 HP:0001263Global developmental delay
10 HP:0001347Hyperreflexia
11 HP:0001252Hypotonia
12 HP:0002187Intellectual disability, profound
13 HP:0002415Leukodystrophy
14 HP:0000639Nystagmus
15 HP:0002191Progressive spasticity
16 HP:0005484Secondary microcephaly
17 HP:0001250Seizure
18 HP:0000486Strabismus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_199440.1(HSPD1):c.86A>G (p.Asp29Gly)3329HSPD1Pathogenic72466451RCV000019113; NMedGen:C2677109,OMIM:612233,ORPHA:2802882198363487198363487NM_199440.1:c.86A>GNP_955472.1:p.Asp29GlyNC_000002.11:g.198363487T>COMIM Allelic Variant:118190.0002C2677109 612233 Leukodystrophy, hypomyelinating, 4