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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: Diseases (C)
Parent Node: Infantile onset spinocerebellar ataxia (C535523)
Parent Node: Spinocerebellar Ataxias (D020754)
..Starting node ..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Child Nodes:
Sister Nodes:
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Ataxia Telangiectasia (D001260) 6
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Gemignani syndrome (C537678)
..Machado-Joseph Disease (D017827) 1
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Spinocerebellar Ataxia 10 (C566874)
..Spinocerebellar Ataxia 11 (C565772)
..Spinocerebellar Ataxia 12 (C565790)
..Spinocerebellar Ataxia 15 (C564685)
..Spinocerebellar Ataxia 17 (C564616)
..Spinocerebellar ataxia 20 (C537199)
..Spinocerebellar ataxia 25 (C537202)
..Spinocerebellar ataxia 26 (C537203)
..Spinocerebellar ataxia 30 (C575214)
..Spinocerebellar Ataxia 31 (C566146)
..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..Spinocerebellar Ataxia with Dysmorphism (C564802)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7319

Name:

MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)

Definition:

Alternative IDs:

ParentIDs:

MESH:C535523|MESH:D020754

TreeNumbers:

C10.228.140.252.190.530/271245 |C10.228.140.252.700.700/271245 |C10.228.140.252.700/C535523/271245 |C10.228.854.787.875/271245 |C10.228.854.787/C535523/271245 |C10.574.500.825.700/271245 |C10.574.500.825/C535523/271245 |C10.597.350.090.500.530/271245 |C16.320.40

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: 271245
MeSH: 271245
OMIM: 271245;

Genes: C10orf2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001284	Areflexia
3	HP:0001251	Ataxia
4	HP:0002305	Athetosis
5	HP:0007366	Atrophy/Degeneration affecting the brainstem
6	HP:0001272	Cerebellar atrophy
7	HP:0002120	Cerebral cortical atrophy
8	HP:0002312	Clumsiness
9	HP:0002910	Elevated hepatic transaminase	HP:0040283
10	HP:0001298	Encephalopathy
11	HP:0012847	Epilepsia partialis continua
12	HP:0200134	Epileptic encephalopathy
13	HP:0001262	Excessive daytime somnolence
14	HP:0001290	Generalized hypotonia
15	HP:0000365	Hearing impairment
16	HP:0000815	Hypergonadotropic hypogonadism
17	HP:0001252	Hypotonia
18	HP:0001249	Intellectual disability
19	HP:0006957	Loss of ability to walk
20	HP:0002076	Migraine
21	HP:0001324	Muscle weakness
22	HP:0000639	Nystagmus
23	HP:0000602	Ophthalmoplegia
24	HP:0000648	Optic atrophy
25	HP:0000817	Poor eye contact
26	HP:0003676	Progressive
27	HP:0000709	Psychosis
28	HP:0003390	Sensory axonal neuropathy
29	HP:0001328	Specific learning disability
30	HP:0002133	Status epilepticus

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_021830.4(C10orf2):c.247C>T (p.Pro83Ser)	56652	C10orf2	Likely pathogenic	386834147	RCV000050141;	N	MedGen:C1849096,OMIM:271245,ORPHA:1186	10	102748214	102748214	NM_021830.4:c.247C>T	NP_068602.2:p.Pro83Ser	NC_000010.10:g.102748214C>T	-	C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
NM_021830.4(C10orf2):c.952G>A (p.Ala318Thr)	56652	C10orf2	Pathogenic	80356542	RCV000020866;	N	MedGen:C1849096,OMIM:271245,ORPHA:1186	10	102748919	102748919	NM_021830.4:c.952G>A	NP_068602.2:p.Ala318Thr	NC_000010.10:g.102748919G>A	OMIM Allelic Variant:606075.0015	C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
NM_021830.4(C10orf2):c.1287C>T (p.Ala429=)	56652	C10orf2	Pathogenic	80356541	RCV000020863;	N	MedGen:C1849096,OMIM:271245,ORPHA:1186	10	102749444	102749444	NM_021830.4:c.1287C>T	NP_068602.2:p.Ala429=	NC_000010.10:g.102749444C>T	-	C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
NM_021830.4(C10orf2):c.1366C>G (p.Leu456Val)	56652	C10orf2	Likely pathogenic	386834145	RCV000050139;	N	MedGen:C1849096,OMIM:271245,ORPHA:1186	10	102749523	102749523	NM_021830.4:c.1366C>G	NP_068602.2:p.Leu456Val	NC_000010.10:g.102749523C>G	-	C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
NM_021830.4(C10orf2):c.1370C>T (p.Thr457Ile)	56652	C10orf2	Pathogenic	80356544	RCV000020864; RCV000004889;	N	MedGen:C1849096,OMIM:271245,ORPHA:1186; MedGen:C3151513,OMIM:251880,ORPHA:279934	10	102749527	102749527	NM_021830.4:c.1370C>T	NP_068602.2:p.Thr457Ile	NC_000010.10:g.102749527C>T	OMIM Allelic Variant:606075.0011	C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral
NM_021830.4(C10orf2):c.1387C>T (p.Arg463Trp)	56652	C10orf2	Likely pathogenic	386834146	RCV000050140;	N	MedGen:C1849096,OMIM:271245,ORPHA:1186	10	102749544	102749544	NM_021830.4:c.1387C>T	NP_068602.2:p.Arg463Trp	NC_000010.10:g.102749544C>T	-	C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
NM_021830.4(C10orf2):c.1523A>G (p.Tyr508Cys)	56652	C10orf2	Pathogenic	80356540	RCV000020865; RCV000199894;	N	MedGen:C1849096,OMIM:271245,ORPHA:1186; MedGen:CN221809	10	102750231	102750231	NM_021830.4:c.1523A>G	NP_068602.2:p.Tyr508Cys	NC_000010.10:g.102750231A>G	OMIM Allelic Variant:606075.0012	C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); CN221809 not provided