MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

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: Friedreich Ataxia (D005621)
..Starting node ..Friedreich Ataxia 1 (C565561)
Child Nodes:
Sister Nodes:
..Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined (C564446)
..Friedreich Ataxia 1 (C565561) L: 00491;
..Friedreich Ataxia 2 (C566594)
..Friedreich ataxia congenital glaucoma (C538061)
..Friedreich Ataxia with Retained Reflexes (C564657)
..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4874

Name:

Friedreich Ataxia 1

Definition:

Alternative IDs:

OMIM:229300

ParentIDs:

MESH:D005621

TreeNumbers:

C10.228.140.252.700.150/C565561 |C10.228.854.787.200/C565561 |C10.574.500.825.200/C565561 |C16.320.400.780.200/C565561 |C18.452.660.300/C565561

Synonyms:

FA FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED |FARR, INCLUDED |FRDA |Frda1

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C565561
MeSH: C565561
OMIM: 229300;
MSeqDR : 00491;
Genes: FXN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0003116	Abnormal echocardiogram
4	HP:0003115	Abnormal EKG
5	HP:0000649	Abnormality of visual evoked potentials
6	HP:0002522	Areflexia of lower limbs
7	HP:0003487	Babinski sign
8	HP:0001635	Congestive heart failure
9	HP:0007078	Decreased amplitude of sensory action potentials
10	HP:0003209	Decreased pyruvate carboxylase activity
11	HP:0003448	Decreased sensory nerve conduction velocity
12	HP:0000819	Diabetes mellitus NAMDC: Diabetes mellitus
13	HP:0001260	Dysarthria NAMDC: Dysarthria
14	HP:0002066	Gait ataxia
15	HP:0001639	Hypertrophic cardiomyopathy NAMDC: Hypertrophic cardomyopathy
16	HP:0010831	Impaired proprioception
17	HP:0002495	Impaired vibratory sensation
18	HP:0002070	Limb ataxia
19	HP:0003232	Mitochondrial malic enzyme reduced
20	HP:0000639	Nystagmus
21	HP:0000648	Optic atrophy
22	HP:0001761	Pes cavus
23	HP:0007663	Reduced visual acuity	HP:0040283
24	HP:0002650	Scoliosis
25	HP:0000763	Sensory neuropathy
26	HP:0001123	Visual field defect
27	HP:0000505	Visual impairment	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000144.5(FXN):c.54A>G (p.Pro18=)	2395	FXN	Benign	rs2481598	RCV000117105\|RCV000602503\|RCV000676782\|RCV002310675;	N	MedGen:CN169374\|MONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:95\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	9	71650752	71650752	9:g.71650752A>G	ClinGen:CA152917	CN230736 Cardiovascular phenotype;
NM_000144.5(FXN):c.146C>A (p.Thr49Asn)	2395	FXN	Uncertain significance	rs995690945	RCV001334263\|RCV002546678;	N	MONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:95\|MeSH:D030342,MedGen:C0950123	9	71650844	71650844	71650844	-
NM_000144.5(FXN):c.165+1338AAG[180]	2395	FXN	Pathogenic	-1	RCV001726540;	N	MONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:95	9	71652200	71652201	71652200	-
NM_000144.5(FXN):c.166-5T>G	2395	FXN	Likely pathogenic	-1	RCV001726502;	N	MONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:95	9	71661296	71661296	71661296	-
NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr)	2395	FXN	Pathogenic	rs886037630	RCV000029175;	N	MONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:95	9	71668163	71668168	9:g.71668163_71668164insACACCTTGAGGACA	ClinGen:CA10575562,OMIM:606829.0009	C1856689 229300 Friedreich ataxia 1;
NM_000144.5(FXN):c.438C>G (p.Asn146Lys)	2395	FXN	Pathogenic	rs146818694	RCV000664219;	N	MONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:95	9	71679907	71679907	9:g.71679907C>G	-	C1856689 229300 Friedreich ataxia 1;