MCID: SPS012
MIFTS: 29

Spastic Paraplegia 3a

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Metabolic diseases, Gastrointestinal diseases, Bone diseases, Mental diseases

Aliases & Classifications for Spastic Paraplegia 3a

MalaCards integrated aliases for Spastic Paraplegia 3a:

Name: Spastic Paraplegia 3a 23 24 25
Spastic Paraplegia 3 24 25
Spg3a 23 25
Spastic Paraplegia 3, Autosomal Dominant 69
Spastic Paraplegia Type 3a 25
Spg 3a 24
Spg 3 24
Spg3 24
Hsp3 24

Characteristics:

GeneReviews:

23
Penetrance Overall, penetrance of pathogenic variants is high (~80%-90%) [dürr et al 2004]. in many familial cases, individuals with an atl1 pathogenic variant had a normal neurologic examination even at an advanced age, arguing against significant age-dependent penetrance [dürr et al 2004]...

Classifications:



Summaries for Spastic Paraplegia 3a

Genetics Home Reference : 25 Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. The pure types involve only the lower limbs, while the complex types also involve other areas of the body; additional features can include changes in vision, changes in intellectual functioning, difficulty walking, and disturbances in nerve function (neuropathy). Spastic paraplegia type 3A is usually a pure hereditary spastic paraplegia, although a few complex cases have been reported.

MalaCards based summary : Spastic Paraplegia 3a, also known as spastic paraplegia 3, is related to hereditary spastic paraplegia 3a and spastic paraplegia 3a, autosomal dominant, and has symptoms including lower limb muscle weakness An important gene associated with Spastic Paraplegia 3a is ATL1 (Atlastin GTPase 1). The drugs Sarpogrelate and Fibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung.

GeneReviews: NBK45978

Related Diseases for Spastic Paraplegia 3a

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 29, Autosomal Dominant
Spastic Paraplegia 63 Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 44, Autosomal Recessive
Spastic Paraplegia 74, Autosomal Recessive Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 77, Autosomal Recessive Spastic Paraplegia 25, Autosomal Recessive
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 53, Autosomal Recessive Spastic Paraplegia 37, Autosomal Dominant
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 18, Autosomal Recessive
Spastic Paraplegia 5a, Autosomal Recessive Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 33, Autosomal Dominant Spastic Paraplegia 9a, Autosomal Dominant
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 62 Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 55, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 3a, Autosomal Dominant Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 6, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 51, Autosomal Recessive Spastic Paraplegia 61, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 75, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 73, Autosomal Dominant Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 3a Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 62 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia 28 Spastic Paraplegia 30
Spastic Paraplegia 33 Spastic Paraplegia 35
Spastic Paraplegia 42 Spastic Paraplegia 43
Spastic Paraplegia 45 Spastic Paraplegia 46
Spastic Paraplegia 47 Spastic Paraplegia 48
Spastic Paraplegia 49 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 53
Spastic Paraplegia 54 Spastic Paraplegia 55
Spastic Paraplegia 56 Spastic Paraplegia 57
Spastic Paraplegia 59 Spastic Paraplegia 61
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 72 Spastic Paraplegia 75
Spastic Paraplegia 76 Spastic Paraplegia 44
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67

Diseases related to Spastic Paraplegia 3a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 3a 12.2
2 spastic paraplegia 3a, autosomal dominant 12.1
3 spastic paraplegia 3 11.9
4 paraplegia 10.3
5 spasticity 10.3
6 hereditary spastic paraplegia 10.1
7 axonal neuropathy 9.9
8 neuropathy 9.9
9 decubitus ulcer 9.4 ATL1 ATL3
10 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 9.3 ATL1 ATL3
11 hereditary spastic paraplegia 62 9.1 ATL1 ATL3
12 spastic paraplegia 11 8.9 ATL1 ATL2 ATL3

Graphical network of the top 20 diseases related to Spastic Paraplegia 3a:



Diseases related to Spastic Paraplegia 3a

Symptoms & Phenotypes for Spastic Paraplegia 3a

UMLS symptoms related to Spastic Paraplegia 3a:


lower limb muscle weakness

Drugs & Therapeutics for Spastic Paraplegia 3a

Drugs for Spastic Paraplegia 3a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sarpogrelate Investigational Phase 1 125926-17-2 5160
2 Fibrinolytic Agents Phase 1
3 Neurotransmitter Agents Phase 1
4 Platelet Aggregation Inhibitors Phase 1
5
Serotonin Phase 1 50-67-9 5202
6 Serotonin Agents Phase 1
7 Serotonin Antagonists Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Food Effect of Sarpogrelate HCl CR Formulation in Comparison to Immediate-release Formulation Completed NCT01841086 Phase 1 Anplag;UI03SPG300CT
2 Respiration Gated Laser Guided CT Lung Nodule Biopsy Unknown status NCT01236937
3 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428

Search NIH Clinical Center for Spastic Paraplegia 3a

Genetic Tests for Spastic Paraplegia 3a

Genetic tests related to Spastic Paraplegia 3a:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 3a 24 ATL1

Anatomical Context for Spastic Paraplegia 3a

MalaCards organs/tissues related to Spastic Paraplegia 3a:

39
Lung

Publications for Spastic Paraplegia 3a

Articles related to Spastic Paraplegia 3a:

id Title Authors Year
1
Extremely Severe Complicated Spastic Paraplegia 3A With Neonatal Onset. ( 25193411 )
2014
2
Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation. ( 22378671 )
2012
3
Hereditary spastic paraplegia 3A associated with axonal neuropathy. ( 17502470 )
2007
4
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. ( 14506257 )
2003
5
Spastic Paraplegia 3A ( 20862796 )
1993

Variations for Spastic Paraplegia 3a

ClinVar genetic disease variations for Spastic Paraplegia 3a:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 ATL1 NM_015915.4(ATL1): c.715C> T (p.Arg239Cys) single nucleotide variant Pathogenic rs119476046 GRCh37 Chromosome 14, 51080061: 51080061
2 ATL1 NM_001127713.1(ATL1): c.776C> A (p.Ser259Tyr) single nucleotide variant Pathogenic rs119476047 GRCh37 Chromosome 14, 51081143: 51081143
3 ATL1 NM_015915.4(ATL1): c.773A> G (p.His258Arg) single nucleotide variant Pathogenic rs119476048 GRCh37 Chromosome 14, 51081140: 51081140
4 ATL1 NM_001127713.1(ATL1): c.650G> A (p.Arg217Gln) single nucleotide variant Pathogenic rs119476049 GRCh37 Chromosome 14, 51079996: 51079996
5 ATL1 ATL1, 1-BP INS, 1688A insertion Pathogenic
6 ATL1 NM_015915.4(ATL1): c.1222A> G (p.Met408Val) single nucleotide variant Pathogenic rs28939094 GRCh37 Chromosome 14, 51094851: 51094851
7 ATL1 NM_015915.4(ATL1): c.1243C> T (p.Arg415Trp) single nucleotide variant Pathogenic/Likely pathogenic rs119476050 GRCh37 Chromosome 14, 51094872: 51094872
8 ATL1 NM_001127713.1(ATL1): c.470T> G (p.Leu157Trp) single nucleotide variant Pathogenic rs119476051 GRCh37 Chromosome 14, 51058305: 51058305
9 ATL1 ATL1, 3-BP DEL deletion Pathogenic
10 ATL1 NM_001127713.1(ATL1): c.1519dupA (Ile507Asnfs) duplication Pathogenic rs863223314 GRCh37 Chromosome 14, 51095148: 51095148
11 ATL1 NM_015915.4(ATL1): c.467C> T (p.Thr156Ile) single nucleotide variant Pathogenic rs137852657 GRCh37 Chromosome 14, 51058302: 51058302
12 ATL1 NM_001127713.1(ATL1): c.1246C> T (p.Arg416Cys) single nucleotide variant Pathogenic rs387906941 GRCh37 Chromosome 14, 51094875: 51094875
13 ATL1 NM_015915.4(ATL1): c.1244G> A (p.Arg415Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514712 GRCh37 Chromosome 14, 51094873: 51094873
14 ATL1 NM_001127713.1(ATL1): c.596T> A (p.Leu199Gln) single nucleotide variant Pathogenic rs797045004 GRCh38 Chromosome 14, 50595598: 50595598
15 ATL1 NM_015915.4(ATL1): c.757G> A (p.Val253Ile) single nucleotide variant Pathogenic/Likely pathogenic rs864622520 GRCh37 Chromosome 14, 51081124: 51081124
16 ATL1 NM_015915.4(ATL1): c.1483C> T (p.Arg495Trp) single nucleotide variant Pathogenic rs864622269 GRCh37 Chromosome 14, 51095112: 51095112

Expression for Spastic Paraplegia 3a

Search GEO for disease gene expression data for Spastic Paraplegia 3a.

Pathways for Spastic Paraplegia 3a

GO Terms for Spastic Paraplegia 3a

Cellular components related to Spastic Paraplegia 3a according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.33 ATL1 ATL2 ATL3
2 endoplasmic reticulum membrane GO:0005789 9.13 ATL1 ATL2 ATL3
3 endoplasmic reticulum tubular network GO:0071782 8.62 ATL1 ATL3

Biological processes related to Spastic Paraplegia 3a according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.26 ATL2 ATL3
2 Golgi organization GO:0007030 9.16 ATL2 ATL3
3 protein homooligomerization GO:0051260 9.13 ATL1 ATL2 ATL3
4 endoplasmic reticulum organization GO:0007029 8.8 ATL1 ATL2 ATL3

Molecular functions related to Spastic Paraplegia 3a according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.43 ATL1 ATL2 ATL3
2 identical protein binding GO:0042802 9.33 ATL1 ATL2 ATL3
3 GTP binding GO:0005525 9.13 ATL1 ATL2 ATL3
4 GTPase activity GO:0003924 8.8 ATL1 ATL2 ATL3

Sources for Spastic Paraplegia 3a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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