MCID: FRD006
MIFTS: 22

Friedreich Ataxia 2

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

Aliases & Classifications for Friedreich Ataxia 2

MalaCards integrated aliases for Friedreich Ataxia 2:

Name: Friedreich Ataxia 2 57 29 13 73
Friedreich Ataxia, Type 2 40
Frda2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
friedreich ataxia 2:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


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)

MalaCards based summary : Friedreich Ataxia 2, also known as friedreich ataxia, type 2, is related to friedreich ataxia 1. An important gene associated with Friedreich Ataxia 2 is FRDA2 (Friedreich Ataxia 2). Affiliated tissues include liver, heart and spinal cord, and related phenotypes are nystagmus and ataxia

Related Diseases for Friedreich Ataxia 2

Diseases in the Friedreich Ataxia 1 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 1 10.9

Symptoms & Phenotypes for Friedreich Ataxia 2

Symptoms via clinical synopsis from OMIM:

57
Neuro:
nystagmus
dysarthria
babinski sign
cerebellar ataxia
impaired vibratory sense
more
Skel:
scoliosis
pes cavus
hammer toe

Lab:
abnormal ekg
abnormal echocardiogram
abnormal motor and sensory nerve conduction
low pyruvate carboxylase activity in liver and cultured fibroblasts
abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and medulla
more
Metabolic:
diabetes mellitus
diabetic ketosis

Cardiac:
congestive heart failure
symmetric, concentric, hypertrophic cardiomyopathy
muscular subaortic stenosis

Misc:
onset before adolescence


Clinical features from OMIM:

601992

Human phenotypes related to Friedreich Ataxia 2:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 ataxia 32 HP:0001251
3 dysarthria 32 HP:0001260
4 scoliosis 32 HP:0002650
5 abnormality of peripheral nerve conduction 32 HP:0003134
6 congestive heart failure 32 HP:0001635
7 babinski sign 32 HP:0003487
8 pes cavus 32 HP:0001761
9 reduced tendon reflexes 32 HP:0001315
10 hammertoe 32 HP:0001765
11 incoordination 32 HP:0002311
12 impaired vibratory sensation 32 HP:0002495
13 abnormal ekg 32 HP:0003115
14 diabetic ketoacidosis 32 HP:0001953
15 abnormal echocardiogram 32 HP:0003116
16 morphological abnormality of the pyramidal tract 32 HP:0002062
17 abnormality of the spinocerebellar tracts 32 HP:0003133
18 abnormality of the dorsal column of the spinal cord 32 HP:0011397
19 mitochondrial malic enzyme reduced 32 HP:0003232
20 concentric hypertrophic cardiomyopathy 32 HP:0005157
21 decreased pyruvate carboxylase activity 32 HP:0003209
22 muscular subvalvular aortic stenosis 32 HP:0001691
23 abnormality of the medulla oblongata 32 HP:0011441

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:

41
Liver, Heart, Spinal Cord, Cerebellum, Medulla Oblongata

Publications for Friedreich Ataxia 2

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

Sources for Friedreich Ataxia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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