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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..Mitochondrial Complex III Deficiency (C565128)
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:

7308

Name:

Mitochondrial Complex III Deficiency

Definition:

Alternative IDs:

OMIM:124000

ParentIDs:

MESH:D028361

TreeNumbers:

C18.452.660/C565128

Synonyms:

MC3DN1 |MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1

Slim Mappings:

Metabolic disease

Reference:

MedGen: C565128
MeSH: C565128
OMIM: 124000;

Genes: BCS1L;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0004298	Abnormality of the abdominal wall
4	HP:0003256	Abnormality of the coagulation cascade
5	HP:0003355	Aminoaciduria
6	HP:0001251	Ataxia
7	HP:0002299	Brittle hair
8	HP:0000518	Cataract
9	HP:0001272	Cerebellar atrophy
10	HP:0002059	Cerebral atrophy
11	HP:0030151	Cholangitis
12	HP:0001396	Cholestasis
13	HP:0001410	Decreased liver function
14	HP:0006558	Decreased mitochondrial complex III activity in liver tissue
15	HP:0000716	Depression
16	HP:0002353	EEG abnormality
17	HP:0002910	Elevated hepatic transaminase
18	HP:0000712	Emotional lability
19	HP:0003546	Exercise intolerance
20	HP:0001508	Failure to thrive
21	HP:0008872	Feeding difficulties in infancy
22	HP:0001290	Generalized hypotonia
23	HP:0001263	Global developmental delay
24	HP:0000738	Hallucinations
25	HP:0000365	Hearing impairment	HP:0040283
26	HP:0001347	Hyperreflexia
27	HP:0001639	Hypertrophic cardiomyopathy
28	HP:0001943	Hypoglycemia
29	HP:0001252	Hypotonia
30	HP:0002151	Increased serum lactate
31	HP:0001249	Intellectual disability
32	HP:0003128	Lactic acidosis
33	HP:0001942	Metabolic acidosis
34	HP:0001414	Microvesicular hepatic steatosis
35	HP:0006789	Mitochondrial encephalopathy
36	HP:0001427	Mitochondrial inheritance
37	HP:0001324	Muscle weakness
38	HP:0003200	Ragged-red muscle fibers
39	HP:0003201	Rhabdomyolysis
40	HP:0000510	Rod-cone dystrophy
41	HP:0001250	Seizure
42	HP:0001257	Spasticity
43	HP:0001970	Tubulointerstitial nephritis

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
NM_004328.4(BCS1L):c.133C>T (p.Arg45Cys)	617	BCS1L	Pathogenic	121908575	RCV000006543;	N	MedGen:C1852372,OMIM:124000	2	219525843	219525843	NM_004328.4:c.133C>T	NP_004319.1:p.Arg45Cys	NC_000002.11:g.219525843C>T	OMIM Allelic Variant:603647.0006	C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.148A>G (p.Thr50Ala)	617	BCS1L	Pathogenic	121908580	RCV000006549;	N	MedGen:C1852372,OMIM:124000	2	219525858	219525858	NM_004328.4:c.148A>G	NP_004319.1:p.Thr50Ala	NC_000002.11:g.219525858A>G	OMIM Allelic Variant:603647.0011	C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter)	617	BCS1L	Pathogenic	121908576	RCV000006544; RCV000195481;	N	MedGen:C1852372,OMIM:124000; MedGen:CN221809	2	219525876	219525876	NM_004328.4:c.166C>T	NP_004319.1:p.Arg56Ter	NC_000002.11:g.219525876C>T	OMIM Allelic Variant:603647.0007	C1852372 124000 Mitochondrial complex III deficiency; CN221809 not provided
NM_004328.4(BCS1L):c.464G>C (p.Arg155Pro)	617	BCS1L	Pathogenic	121908573	RCV000006540;	N	MedGen:C1852372,OMIM:124000	2	219526485	219526485	NM_004328.4:c.464G>C	NP_004319.1:p.Arg155Pro	NC_000002.11:g.219526485G>C	OMIM Allelic Variant:603647.0003	C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.547C>T (p.Arg183Cys)	617	BCS1L	Likely pathogenic;Pathogenic	144885874	RCV000006550;	N	MedGen:C1852372,OMIM:124000	2	219526568	219526568	NM_004328.4:c.547C>T	NP_004319.1:p.Arg183Cys	NC_000002.11:g.219526568C>T	OMIM Allelic Variant:603647.0012	C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.550C>T (p.Arg184Cys)	617	BCS1L	Pathogenic	121908578	RCV000034811; RCV000006546;	N	MedGen:C1852372,OMIM:124000; MedGen:C4016851	2	219526571	219526571	NM_004328.4:c.550C>T	NP_004319.1:p.Arg184Cys	NC_000002.11:g.219526571C>T	OMIM Allelic Variant:603647.0009	C4016851 Bjornstad syndrome with mild mitochondrial complex III deficiency; C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.830G>A (p.Ser277Asn)	617	BCS1L	Pathogenic	121908571	RCV000006538;	N	MedGen:C1852372,OMIM:124000	2	219527343	219527343	NM_004328.4:c.830G>A	NP_004319.1:p.Ser277Asn	NC_000002.11:g.219527343G>A	OMIM Allelic Variant:603647.0001	C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.1057G>A (p.Val353Met)	617	BCS1L	Pathogenic	121908574	RCV000006541;	N	MedGen:C1852372,OMIM:124000	2	219527906	219527906	NM_004328.4:c.1057G>A	NP_004319.1:p.Val353Met	NC_000002.11:g.219527906G>A	OMIM Allelic Variant:603647.0004	C1852372 124000 Mitochondrial complex III deficiency