FRDA2
MCID: FRD006
MIFTS: 30

Friedreich Ataxia 2 (FRDA2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Friedreich Ataxia 2

MalaCards integrated aliases for Friedreich Ataxia 2:

Name: Friedreich Ataxia 2 57 12 29 13 15 70
Frda2 57 12
Friedreich Ataxia, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
friedreich ataxia 2:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Friedreich Ataxia 2

OMIM® : 57 Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000). For a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 (229300), which is caused by mutation in the FXN gene (606829) on chromosome 9q13. (601992) (Updated 05-Apr-2021)

MalaCards based summary : Friedreich Ataxia 2, also known as frda2, is related to friedreich ataxia and ataxia and polyneuropathy, adult-onset. An important gene associated with Friedreich Ataxia 2 is FRDA2 (Friedreich Ataxia 2). Affiliated tissues include heart, cerebellum and spinal cord, and related phenotypes are scoliosis and nystagmus

Disease Ontology : 12 A Friedreich ataxia that has material basis in mutation in the 9p23-p11 chromosome region.

Related Diseases for Friedreich Ataxia 2

Diseases in the Friedreich Ataxia family:

Friedreich Ataxia 2

Diseases related to Friedreich Ataxia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 friedreich ataxia 30.9 PIP5K1B FXN FTMT FRDA2
2 ataxia and polyneuropathy, adult-onset 9.9
3 spastic ataxia, charlevoix-saguenay type 9.9 FXN ATCAY
4 sideroblastic anemia 9.8 FXN FTMT
5 hyperferritinemia with or without cataract 9.8 FTMT FTHL17
6 cardiomyopathy, familial hypertrophic, 9 9.7 FTMT FTHL17
7 hereditary ataxia 9.7 FXN ATCAY

Graphical network of the top 20 diseases related to Friedreich Ataxia 2:



Diseases related to Friedreich Ataxia 2

Symptoms & Phenotypes for Friedreich Ataxia 2

Human phenotypes related to Friedreich Ataxia 2:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 nystagmus 31 HP:0000639
3 ataxia 31 HP:0001251
4 dysarthria 31 HP:0001260
5 abnormality of peripheral nerve conduction 31 HP:0003134
6 congestive heart failure 31 HP:0001635
7 reduced tendon reflexes 31 HP:0001315
8 pes cavus 31 HP:0001761
9 impaired vibratory sensation 31 HP:0002495
10 babinski sign 31 HP:0003487
11 hammertoe 31 HP:0001765
12 incoordination 31 HP:0002311
13 abnormal ekg 31 HP:0003115
14 abnormal echocardiogram 31 HP:0003116
15 diabetic ketoacidosis 31 HP:0001953
16 morphological abnormality of the pyramidal tract 31 HP:0002062
17 abnormality of the spinocerebellar tracts 31 HP:0003133
18 abnormality of the dorsal column of the spinal cord 31 HP:0011397
19 concentric hypertrophic cardiomyopathy 31 HP:0005157
20 abnormality of the medulla oblongata 31 HP:0011441
21 decreased pyruvate carboxylase activity 31 HP:0003209
22 mitochondrial malic enzyme reduced 31 HP:0003232
23 muscular subvalvular aortic stenosis 31 HP:0001691

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skel:
scoliosis
pes cavus
hammer toe

Metabolic:
diabetes mellitus
diabetic ketosis

Lab:
abnormal ekg
abnormal echocardiogram
mitochondrial malic enzyme reduced
abnormal motor and sensory nerve conduction
low pyruvate carboxylase activity in liver and cultured fibroblasts
more
Neuro:
nystagmus
dysarthria
babinski sign
cerebellar ataxia
impaired vibratory sense
more
Cardiac:
congestive heart failure
symmetric, concentric, hypertrophic cardiomyopathy
muscular subaortic stenosis

Misc:
onset before adolescence

Clinical features from OMIM®:

601992 (Updated 05-Apr-2021)

Drugs & Therapeutics for Friedreich Ataxia 2

Search Clinical Trials , NIH Clinical Center for Friedreich Ataxia 2

Genetic Tests for Friedreich Ataxia 2

Genetic tests related to Friedreich Ataxia 2:

# Genetic test Affiliating Genes
1 Friedreich Ataxia 2 29

Anatomical Context for Friedreich Ataxia 2

MalaCards organs/tissues related to Friedreich Ataxia 2:

40
Heart, Cerebellum, Spinal Cord, Liver, Medulla Oblongata

Publications for Friedreich Ataxia 2

Articles related to Friedreich Ataxia 2:

# Title Authors PMID Year
1
Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. 57 61
11523563 2001
2
Locus heterogeneity in Friedreich ataxia. 61 57
10735274 1997
3
Friedreich ataxia: an overview. 57
10633128 2000
4
A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus. 57
8641704 1996

Variations for Friedreich Ataxia 2

Expression for Friedreich Ataxia 2

Search GEO for disease gene expression data for Friedreich Ataxia 2.

Pathways for Friedreich Ataxia 2

GO Terms for Friedreich Ataxia 2

Biological processes related to Friedreich Ataxia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.58 FXN FTMT FTHL17
2 cellular iron ion homeostasis GO:0006879 9.43 FXN FTMT FTHL17
3 iron ion transport GO:0006826 9.37 FTMT FTHL17
4 intracellular sequestering of iron ion GO:0006880 9.32 FTMT FTHL17
5 positive regulation of aconitate hydratase activity GO:1904234 9.16 FXN FTMT
6 positive regulation of succinate dehydrogenase activity GO:1904231 8.96 FXN FTMT
7 positive regulation of lyase activity GO:0051349 8.62 FXN FTMT

Molecular functions related to Friedreich Ataxia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 9.33 FXN FTMT FTHL17
2 ferric iron binding GO:0008199 9.13 FXN FTMT FTHL17
3 ferroxidase activity GO:0004322 8.8 FXN FTMT FTHL17

Sources for Friedreich Ataxia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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