MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- Disease Portal in Mondo
- HPO Ontology Browser
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
- PMD Virtual Registry
Collaboration
Submission

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: Ataxia (D001259)
Parent Node: Fragile X Syndrome (D005600)
Parent Node: Tremor (D014202)
..Starting node ..Fragile X Tremor Ataxia Syndrome (C564105)
Child Nodes:
Sister Nodes:
..Fragile X Tremor Ataxia Syndrome (C564105)
..Geniospasm (C537682)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
..Primary orthostatic tremor (C536418)
..Tremor hereditary essential, 2 (C536546)
..Tremor of Intention, Ataxia, and Lipofuscinosis (C566038)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4858

Name:

Fragile X Tremor Ataxia Syndrome

Definition:

Alternative IDs:

OMIM:300623

ParentIDs:

MESH:D001259|MESH:D005600|MESH:D014202

TreeNumbers:

C10.597.350.090/C564105 |C10.597.350.850/C564105 |C10.597.606.360.455.500/C564105 |C16.131.260.830.300/C564105 |C16.320.180.830.300/C564105 |C16.320.322.500.500/C564105 |C16.320.400.525.500/C564105 |C23.888.592.350.090/C564105 |C23.888.592.350.850/C564105

Synonyms:

Fragile X-Associated Tremor Ataxia Syndrome |FRAGILE X TREMOR/ATAXIA SYNDROME |Fxtas

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564105
MeSH: C564105
OMIM: 300623;
MSeqDR :
Genes: FMR1;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0003581	Adult onset
3	HP:0000739	Anxiety NAMDC: Anxiety
4	HP:0002607	Bowel incontinence
5	HP:0002067	Bradykinesia
6	HP:0001272	Cerebellar atrophy
7	HP:0000726	Dementia NAMDC: Dementia
8	HP:0000716	Depressivity NAMDC: Depression
9	HP:0002506	Diffuse cerebral atrophy
10	HP:0000734	Disinhibition
11	HP:0001260	Dysarthria NAMDC: Dysarthria
12	HP:0002075	Dysdiadochokinesis
13	HP:0001310	Dysmetria
14	HP:0002066	Gait ataxia
15	HP:0000365	Hearing impairment
16	HP:0001265	Hyporeflexia
17	HP:0000821	Hypothyroidism NAMDC: Hypothyroidism
18	HP:0006886	Impaired distal vibration sensation
19	HP:0000802	Impotence
20	HP:0002080	Intention tremor
21	HP:0000298	Mask-like facies
22	HP:0002354	Memory impairment
23	HP:0003326	Myalgia
24	HP:0000639	Nystagmus
25	HP:0008770	Obsessive-compulsive trait
26	HP:0001300	Parkinsonism NAMDC: Parkinsonism
27	HP:0007010	Poor fine motor coordination
28	HP:0002174	Postural tremor
29	HP:0008209	Premature ovarian insufficiency
30	HP:0002322	Resting tremor
31	HP:0001152	Saccadic smooth pursuit
32	HP:0000020	Urinary incontinence

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_002024.6(FMR1):c.-128GGC[55_200]	2332	FMR1	Pathogenic	-1	RCV000761550\|RCV000761551;	N	MONDO:MONDO:0010382,MedGen:C1839780,OMIM:300623, Orphanet:93256\|MONDO:MONDO:0010706,MedGen:C4552079,OMIM:311360	X	146993570	146993572		-
NM_002024.6(FMR1):c.18G>T (p.Val6=)	2332	FMR1	Benign/Likely benign	rs111485627	RCV000727572\|RCV002312464\|RCV002485801;	N	MedGen:CN169374\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010382,MedGen:C1839780,OMIM:300623, Orphanet:93256; MONDO:MONDO:0010383,MedGen:C0016667,OMIM:300624, Orphanet:449291, Orphanet:908; MONDO:MONDO:0010706,MedGen:C4552079,OMIM:311360	X	146993715	146993715	NC_000023.10:g.146993715G>T	-
NM_002024.6(FMR1):c.414G>A (p.Arg138=)	2332	FMR1	Benign	rs25707	RCV000079966\|RCV001276519\|RCV001668194\|RCV002311599\|RCV002498405;	N	MedGen:CN169374\|MONDO:MONDO:0010383,MedGen:C0016667,OMIM:300624, Orphanet:449291, Orphanet:908\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010382,MedGen:C1839780,OMIM:300623, Orphanet:93256; MONDO:MONDO:0010706,MedGen:C4552079,OMIM:311360; MOND	X	147010320	147010320	X:g.147010320G>A	ClinGen:CA147545	CN169374 not specified;
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)	2332	FMR1	Benign	rs29281	RCV000117089\|RCV001276520\|RCV002312108\|RCV002477289;	N	MedGen:CN169374\|MONDO:MONDO:0010383,MedGen:C0016667,OMIM:300624, Orphanet:449291, Orphanet:908\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010706,MedGen:C4552079,OMIM:311360; MONDO:MONDO:0010382,MedGen:C1839780,OMIM:300623, Orphanet:93256; MONDO:MONDO:0010383,	X	147011480	147011480	X:g.147011480G>T	ClinGen:CA152897,UniProtKB:Q06787#VAR_029278	CN169374 not specified;

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen