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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

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: Acidosis, Lactic (D000140)
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
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:

7321

Name:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

Definition:

Alternative IDs:

ParentIDs:

MESH:D000140|MESH:D028361

TreeNumbers:

C18.452.076.176.180/245400 |C18.452.660/245400

Synonyms:

LACTIC ACIDOSIS, FATAL INFANTILE, FORMERLY |MTDPS9

Slim Mappings:

Metabolic disease

Reference:

MedGen: 245400
MeSH: 245400
OMIM: 245400;

Genes: SUCLG1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0000951	Abnormality of the skin
4	HP:0001251	Ataxia
5	HP:0002059	Cerebral atrophy
6	HP:0001298	Encephalopathy
7	HP:0001508	Failure to thrive
8	HP:0011968	Feeding difficulties
9	HP:0001263	Global developmental delay
10	HP:0001510	Growth delay
11	HP:0000365	Hearing impairment	HP:0040283
12	HP:0000975	Hyperhidrosis
13	HP:0001943	Hypoglycemia
14	HP:0002148	Hypophosphatemia
15	HP:0001252	Hypotonia
16	HP:0001249	Intellectual disability
17	HP:0010864	Intellectual disability, severe
18	HP:0005941	Intermittent hyperpnea at rest
19	HP:0003128	Lactic acidosis
20	HP:0012120	Methylmalonic aciduria
21	HP:0008335	obsolete Renal aminoaciduria
22	HP:0003812	Phenotypic variability
23	HP:0002275	Poor motor coordination
24	HP:0002878	Respiratory failure
25	HP:0001250	Seizure
26	HP:0003202	Skeletal muscle atrophy
27	HP:0002317	Unsteady gait

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_003849.3(SUCLG1):c.509C>G (p.Pro170Arg)	8802	SUCLG1	Pathogenic	267607099	RCV000001041;	N	MedGen:C3151476,OMIM:245400,ORPHA:17	2	84668393	84668393	NM_003849.3:c.509C>G	NP_003840.2:p.Pro170Arg	NC_000002.11:g.84668393G>C	OMIM Allelic Variant:611224.0003	C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
NM_003849.3(SUCLG1):c.507delG (p.Asn171Thrfs)	8802	SUCLG1	Pathogenic	797046017	RCV000193104;	N	MedGen:C3151476,OMIM:245400,ORPHA:17	2	84668395	84668395	NM_003849.3:c.507delG	NP_003840.2:p.Asn171Thrfs	NC_000002.11:g.84668395delC	-	C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
NM_003849.3(SUCLG1):c.448C>T (p.Gln150Ter)	8802	SUCLG1	Pathogenic	267607098	RCV000001043;	N	MedGen:C3151476,OMIM:245400,ORPHA:17	2	84668454	84668454	NM_003849.3:c.448C>T	NP_003840.2:p.Gln150Ter	NC_000002.11:g.84668454G>A	OMIM Allelic Variant:611224.0005	C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
NM_003849.3(SUCLG1):c.254G>C (p.Gly85Ala)	8802	SUCLG1	Pathogenic	267607097	RCV000001040;	N	MedGen:C3151476,OMIM:245400,ORPHA:17	2	84670472	84670472	NM_003849.3:c.254G>C	NP_003840.2:p.Gly85Ala	NC_000002.11:g.84670472C>G	OMIM Allelic Variant:611224.0002	C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
NM_003849.3(SUCLG1):c.97+3G>C	8802	SUCLG1	Pathogenic	786205871	RCV000001042;	N	MedGen:C3151476,OMIM:245400,ORPHA:17	2	84686294	84686294	NM_003849.3:c.97+3G>C		NC_000002.11:g.84686294C>G	OMIM Allelic Variant:611224.0004	C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)