MCID: SPS012
MIFTS: 31

Spastic Paraplegia 3a

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

Aliases & Classifications for Spastic Paraplegia 3a

MalaCards integrated aliases for Spastic Paraplegia 3a:

Name: Spastic Paraplegia 3a 23 24
Spg3a 23 24
Spastic Paraplegia 3, Autosomal Dominant 69
Spastic Paraplegia Type 3a 24
Spastic Paraplegia 3 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:



External Ids:

UMLS 69 C2931355

Summaries for Spastic Paraplegia 3a

Genetics Home Reference : 24 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 spg3a, is related to neuropathy and hereditary spastic paraplegia, and has symptoms including urgency of micturition 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 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 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
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:

# Related Disease Score Top Affiliating Genes
1 neuropathy 29.2 ATL1 ATL3
2 hereditary spastic paraplegia 28.9 ATL1 ATL2 ATL3
3 spastic paraplegia 3, autosomal dominant 11.8
4 paraplegia 10.3
5 spasticity 10.3
6 axonal neuropathy 10.0
7 spastic paraplegia 3 10.0
8 neuropathy, hereditary sensory, type ie 9.7 ATL1 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:


urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 3a

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

(show all 7)
# 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:


# 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

Anatomical Context for Spastic Paraplegia 3a

MalaCards organs/tissues related to Spastic Paraplegia 3a:

38
Lung

Publications for Spastic Paraplegia 3a

Articles related to Spastic Paraplegia 3a:

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.43 ATL1 ATL2 ATL3
2 endoplasmic reticulum membrane GO:0005789 9.33 ATL1 ATL2 ATL3
3 endoplasmic reticulum tubular network GO:0071782 8.96 ATL1 ATL3
4 endoplasmic reticulum tubular network membrane GO:0098826 8.8 ATL1 ATL2 ATL3

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

# Name GO ID Score Top Affiliating Genes
1 protein homooligomerization GO:0051260 9.33 ATL1 ATL2 ATL3
2 ER to Golgi vesicle-mediated transport GO:0006888 9.32 ATL2 ATL3
3 Golgi organization GO:0007030 9.26 ATL2 ATL3
4 endoplasmic reticulum tubular network membrane organization GO:1990809 8.96 ATL1 ATL2
5 endoplasmic reticulum organization GO:0007029 8.8 ATL1 ATL2 ATL3

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....