MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Amyotrophic Lateral Sclerosis (D000690)
Parent Node: Frontotemporal Dementia (D057180)
..Starting node ..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 (OMIM:616437)
Child Nodes:
Sister Nodes:
..AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613954)
..AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
..AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
..Amyotrophic Lateral Sclerosis 6, Autosomal Recessive (C567699)
..Chromosome 3-Linked Frontotemporal Dementia (C579991)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 (OMIM:616437)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
..Frontotemporal Dementia With Motor Neuron Disease (C566288)
..Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
..Pallidopontonigral Degeneration (C563003)
..Pick Disease of the Brain (D020774)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4889

Name:

FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3

Definition:

Alternative IDs:

DO:DOID:0110068

ParentIDs:

MESH:D000690|MESH:D057180

TreeNumbers:

C10.228.140.380.266.299/616437 |C10.228.854.139/616437 |C10.574.562.250/616437 |C10.574.950.050/616437 |C10.574.950.300.299/616437 |C10.668.467.250/616437 |C18.452.845.800.050/616437 |C18.452.845.800.300.299/616437 |F03.615.400.380.299/616437

Synonyms:

FTDALS3

Slim Mappings:

Mental disorder|Metabolic disease|Nervous system disease

Reference:

MedGen: 616437
MeSH: 616437
OMIM: 616437;
MSeqDR :
Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002366	Abnormal lower motor neuron morphology
3	HP:0007354	Amyotrophic lateral sclerosis
4	HP:0000741	Apathy
5	HP:0001283	Bulbar palsy
6	HP:0002120	Cerebral cortical atrophy
7	HP:0000734	Disinhibition
8	HP:0001260	Dysarthria NAMDC: Dysarthria
9	HP:0002015	Dysphagia NAMDC: Dysphagia
10	HP:0002380	Fasciculations
11	HP:0002145	Frontotemporal dementia
12	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
13	HP:0001265	Hyporeflexia
14	HP:0002463	Language impairment
15	HP:0002300	Mutism
16	HP:0000751	Personality changes
17	HP:0003812	Phenotypic variability
18	HP:0003676	Progressive
19	HP:0003202	Skeletal muscle atrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del)	2896	GRN	Uncertain significance	-1	RCV001925611\|RCV002290799;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803	17	42427598	42427600	42427597	-
NM_003900.5(SQSTM1):c.-27C>T	8878	SQSTM1	Uncertain significance	rs781131232	RCV001253043;	N	MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803	5	179247910	179247910	5:g.179247910C>T	-
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs200396166	RCV000184066\|RCV000652548\|RCV001155398\|RCV001636735\|RCV002518539;	N	MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|	5	179248034	179248034	NC_000005.9:g.179248034C>T	ClinGen:CA3600374,OMIM:601530.0006	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.240C>G (p.Asp80Glu)	8878	SQSTM1	Uncertain significance	-1	RCV002250939;	N	MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803	5	179249992	179249992	179249992	-
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg)	8878	SQSTM1	Uncertain significance	-1	RCV001366472\|RCV002290695;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803	5	179250864	179250864	179250864	-
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys)	8878	SQSTM1	Uncertain significance	rs1478180381	RCV001063668\|RCV002221262\|RCV002261270;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803\|MedGen:CN517202	5	179251275	179251275	5:g.179251275C>T	-
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)	8878	SQSTM1	Uncertain significance	rs796052214	RCV000184067\|RCV000694548;	N	MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252183	179252185	NC_000005.9:g.179252183GAA[1]	ClinGen:CA203870,OMIM:601530.0007	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.755-23G>A	8878	SQSTM1	Benign	-1	RCV001654526\|RCV001810193\|RCV001810194\|RCV001810195\|RCV001810196;	N	MedGen:CN517202\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803\|MONDO:MONDO:0014940,MedGen:C4310693,OMIM:617145\|MONDO:MONDO:0014945,MedGen:C5399975,OMIM:617158	5	179260009	179260009	179260009	-
NM_003900.5(SQSTM1):c.1128del (p.Gly376_Leu377insTer)	8878	SQSTM1	Likely pathogenic	rs1758359961	RCV001253614;	N	MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803	5	179260743	179260743	5:g.179260743_179260743del	-
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs776749939	RCV000184065\|RCV000481808\|RCV001323701;	N	MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803\|MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260777	179260777	NC_000005.9:g.179260777C>T	ClinGen:CA203868,UniProtKB:Q13501#VAR_023592,OMIM:601530.0005	C4225326 616437 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs104893941	RCV000008576\|RCV000184063\|RCV000477939\|RCV000490214\|RCV000824803\|RCV001084507\|RCV002508916;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803\|MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803; MONDO:MONDO:0008176	5	179263445	179263445	NC_000005.9:g.179263445C>T	ClinGen:CA203866,UniProtKB:Q13501#VAR_023593,OMIM:601530.0001	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1306C>T (p.His436Tyr)	8878	SQSTM1	Uncertain significance	-1	RCV002225174;	N	MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803	5	179263576	179263576	179263576	-

MSeqDR Portal

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