MCID: SPS212
MIFTS: 27

Spastic Ataxia 5, Autosomal Recessive

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

Aliases & Classifications for Spastic Ataxia 5, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 5, Autosomal Recessive:

Name: Spastic Ataxia 5, Autosomal Recessive 57 75 29 6 73
Spax5 57 59 75
Afg3l2-Related Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome 59
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome 59
Ataxia, Spastic, Type 5, Autosomal Recessive 40
Autosomal Recessive Spastic Ataxia Type 5 59
Ataxia, Spastic, 5, Autosomal Recessive 13

Characteristics:

Orphanet epidemiological data:

59
early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in infancy or early childhood
not all patients have all features
four patients from 3 families have been reported (last curated january 2015)


HPO:

32
spastic ataxia 5, autosomal recessive:
Onset and clinical course variable expressivity infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Ataxia 5, Autosomal Recessive

OMIM : 57 Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy (summary by Pierson et al., 2011). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600). (614487)

MalaCards based summary : Spastic Ataxia 5, Autosomal Recessive, also known as spax5, is related to spastic ataxia 5 and spinocerebellar ataxia 28, and has symptoms including ataxia, muscle spasticity and myoclonus. An important gene associated with Spastic Ataxia 5, Autosomal Recessive is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2). Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and oculomotor apraxia

UniProtKB/Swiss-Prot : 75 Spastic ataxia 5, autosomal recessive: A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.

Related Diseases for Spastic Ataxia 5, Autosomal Recessive

Diseases in the Spastic Ataxia family:

Spastic Ataxia 1, Autosomal Dominant Spastic Ataxia 7, Autosomal Dominant
Spastic Ataxia 2, Autosomal Recessive Spastic Ataxia 3, Autosomal Recessive
Spastic Ataxia 4, Autosomal Recessive Spastic Ataxia 5, Autosomal Recessive
Spastic Ataxia 1 Spastic Ataxia 2
Spastic Ataxia 3 Spastic Ataxia 4
Spastic Ataxia 5 Spastic Ataxia 7
Spastic Ataxia 8

Diseases related to Spastic Ataxia 5, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic ataxia 5 9.2 AFG3L2 LOC107985154
2 spinocerebellar ataxia 28 9.0 AFG3L2 LOC107985154

Symptoms & Phenotypes for Spastic Ataxia 5, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
oculomotor apraxia

Abdomen Gastrointestinal:
dysphagia

Neurologic Peripheral Nervous System:
axonal peripheral sensorimotor neuropathy
chronic demyelinating/remyelinating process seen on sural nerve biopsy

Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
myoclonus
dysmetria
more
Muscle Soft Tissue:
distal muscle atrophy, affecting the lower limbs
distal muscle weakness, affecting the lower limbs
misplaced mitochondria seen on skeletal muscle biopsy
large lipid droplets
decreased mtdna


Clinical features from OMIM:

614487

Human phenotypes related to Spastic Ataxia 5, Autosomal Recessive:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
3 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
4 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
5 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
6 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
7 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
8 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
9 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
10 generalized tonic-clonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002069
11 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
12 generalized myoclonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002123
13 spastic paraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0002313
14 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
15 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
16 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
17 peripheral axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003477
18 distal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003693
19 demyelinating peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007108
20 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
21 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
22 abnormal mitochondria in muscle tissue 59 32 frequent (33%) Frequent (79-30%) HP:0008316
23 ataxia 59 Frequent (79-30%)
24 spasticity 59 Frequent (79-30%)
25 dysarthria 32 HP:0001260
26 muscle weakness 32 HP:0001324
27 spastic ataxia 32 HP:0002497
28 skeletal muscle atrophy 32 HP:0003202
29 increased intramyocellular lipid droplets 32 HP:0012240
30 cognitive impairment 32 occasional (7.5%) HP:0100543

UMLS symptoms related to Spastic Ataxia 5, Autosomal Recessive:


ataxia, muscle spasticity, myoclonus, paraparesis, spastic, dysdiadochokinesis, myoclonic seizures

Drugs & Therapeutics for Spastic Ataxia 5, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 5, Autosomal Recessive

Genetic Tests for Spastic Ataxia 5, Autosomal Recessive

Genetic tests related to Spastic Ataxia 5, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Ataxia 5, Autosomal Recessive 29 AFG3L2

Anatomical Context for Spastic Ataxia 5, Autosomal Recessive

MalaCards organs/tissues related to Spastic Ataxia 5, Autosomal Recessive:

41
Skeletal Muscle

Publications for Spastic Ataxia 5, Autosomal Recessive

Variations for Spastic Ataxia 5, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Ataxia 5, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 AFG3L2 p.Tyr616Cys VAR_067330 rs387906889

ClinVar genetic disease variations for Spastic Ataxia 5, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AFG3L2 NM_006796.2(AFG3L2): c.1847A> G (p.Tyr616Cys) single nucleotide variant Likely pathogenic rs387906889 GRCh37 Chromosome 18, 12340333: 12340333
2 AFG3L2 NM_006796.2(AFG3L2): c.1847A> G (p.Tyr616Cys) single nucleotide variant Likely pathogenic rs387906889 GRCh38 Chromosome 18, 12340334: 12340334
3 AFG3L2 NM_006796.2(AFG3L2): c.1875G> A (p.Met625Ile) single nucleotide variant Pathogenic rs727502823 GRCh37 Chromosome 18, 12340305: 12340305
4 AFG3L2 NM_006796.2(AFG3L2): c.1875G> A (p.Met625Ile) single nucleotide variant Pathogenic rs727502823 GRCh38 Chromosome 18, 12340306: 12340306
5 AFG3L2 NM_006796.2(AFG3L2): c.1951A> G (p.Arg651Gly) single nucleotide variant Likely pathogenic rs764254189 GRCh37 Chromosome 18, 12340229: 12340229
6 AFG3L2 NM_006796.2(AFG3L2): c.1951A> G (p.Arg651Gly) single nucleotide variant Likely pathogenic rs764254189 GRCh38 Chromosome 18, 12340230: 12340230

Expression for Spastic Ataxia 5, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Ataxia 5, Autosomal Recessive.

Pathways for Spastic Ataxia 5, Autosomal Recessive

GO Terms for Spastic Ataxia 5, Autosomal Recessive

Sources for Spastic Ataxia 5, Autosomal Recessive

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11 DGIdb
17 ExPASy
19 FMA
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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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