MCID: SPS208
MIFTS: 23

Spastic Ataxia 4, Autosomal Recessive

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

Aliases & Classifications for Spastic Ataxia 4, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 4, Autosomal Recessive:

Name: Spastic Ataxia 4, Autosomal Recessive 57 53 75 73
Spax4 57 53 59 75
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome 53 59
Autosomal Recessive Spastic Ataxia Type 4 53 59
Ataxia, Spastic, 4, Autosomal Recessive 29 6
Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria 53
Autosomal Recessive Spastic Ataxia 4 53

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive disorder
onset in early childhood
most retain independent ambulation
one family from the old order amish has been reported (last curated january 2015)


HPO:

32
spastic ataxia 4, autosomal recessive:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Ataxia 4, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Spastic ataxia 4, autosomal recessive: A slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy.

MalaCards based summary : Spastic Ataxia 4, Autosomal Recessive, is also known as spax4, and has symptoms including paraparesis, spastic An important gene associated with Spastic Ataxia 4, Autosomal Recessive is MTPAP (Mitochondrial Poly(A) Polymerase). Affiliated tissues include tongue, and related phenotypes are nystagmus and emotional lability

Description from OMIM: 613672

Related Diseases for Spastic Ataxia 4, Autosomal Recessive

Symptoms & Phenotypes for Spastic Ataxia 4, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy

Head And Neck Face:
brisk jaw jerk

Neurologic Behavioral Psychiatric Manifestations:
emotional lability (in some)

Neurologic Central Nervous System:
dysarthria
spastic paraparesis
extensor plantar responses
delayed walking
learning difficulties
more
Head And Neck Mouth:
poor oromandibular coordination
slow, spastic tongue movements

Laboratory Abnormalities:
fibroblasts shows defects in oxidative phosphorylation
decreased amount and activity of mitochondrial complexes i and iv


Clinical features from OMIM:

613672

Human phenotypes related to Spastic Ataxia 4, Autosomal Recessive:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 emotional lability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000712
3 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
4 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
5 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
6 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
7 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
8 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
9 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
10 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
11 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
12 lower limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0006895
13 progressive gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0007240
14 spastic paraparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002313
15 movement abnormality of the tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000182
16 upper limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0200049
17 delayed speech and language development 32 HP:0000750
18 spastic ataxia 32 HP:0002497

UMLS symptoms related to Spastic Ataxia 4, Autosomal Recessive:


paraparesis, spastic

Drugs & Therapeutics for Spastic Ataxia 4, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spastic Ataxia 4, Autosomal Recessive

Genetic Tests for Spastic Ataxia 4, Autosomal Recessive

Genetic tests related to Spastic Ataxia 4, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Ataxia, Spastic, 4, Autosomal Recessive 29 MTPAP

Anatomical Context for Spastic Ataxia 4, Autosomal Recessive

MalaCards organs/tissues related to Spastic Ataxia 4, Autosomal Recessive:

41
Tongue

Publications for Spastic Ataxia 4, Autosomal Recessive

Variations for Spastic Ataxia 4, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Ataxia 4, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 MTPAP p.Asn478Asp VAR_064907 rs267606900

ClinVar genetic disease variations for Spastic Ataxia 4, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MTPAP NM_018109.3(MTPAP): c.1432A> G (p.Asn478Asp) single nucleotide variant Pathogenic rs267606900 GRCh37 Chromosome 10, 30602855: 30602855
2 MTPAP NM_018109.3(MTPAP): c.1432A> G (p.Asn478Asp) single nucleotide variant Pathogenic rs267606900 GRCh38 Chromosome 10, 30313926: 30313926
3 MTPAP NM_018109.3(MTPAP): c.1468G> T (p.Val490Leu) single nucleotide variant Uncertain significance rs1057518710 GRCh38 Chromosome 10, 30313890: 30313890
4 MTPAP NM_018109.3(MTPAP): c.1468G> T (p.Val490Leu) single nucleotide variant Uncertain significance rs1057518710 GRCh37 Chromosome 10, 30602819: 30602819

Expression for Spastic Ataxia 4, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Ataxia 4, Autosomal Recessive.

Pathways for Spastic Ataxia 4, Autosomal Recessive

GO Terms for Spastic Ataxia 4, Autosomal Recessive

Sources for Spastic Ataxia 4, Autosomal Recessive

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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