SPG3
MCID: SPS036
MIFTS: 26

Spastic Paraplegia 3 (SPG3)

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

Aliases & Classifications for Spastic Paraplegia 3

MalaCards integrated aliases for Spastic Paraplegia 3:

Name: Spastic Paraplegia 3 54 30 6
Spastic Paraplegia 3, Autosomal Dominant 74
Spastic Paraplegia, Hereditary 74
Strumpell Disease 54
Spg3a 54
Spg3 54

Classifications:



External Ids:

Summaries for Spastic Paraplegia 3

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 100984Disease definitionAutosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.Visit the Orphanet disease page for more resources.

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

Related Diseases for Spastic Paraplegia 3

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 47
Spastic Paraplegia 51 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia Type 49
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
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 Autosomal Dominant Spastic Paraplegia Type 9b

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 12.5
2 spastic paraplegia 3a 11.3
3 hereditary spastic paraplegia 11.2
4 spondyloarthropathy 1 11.1
5 spastic paraplegia 4, autosomal dominant 11.1
6 spastic paraplegia 9a, autosomal dominant 11.1
7 spastic paraplegia 8, autosomal dominant 11.1
8 spastic paraplegia 12, autosomal dominant 11.1
9 neuropathy, hereditary sensory, type id 11.1
10 spastic paraplegia 72, autosomal recessive 11.1
11 paraplegia 10.7
12 neuropathy 10.3
13 axonal neuropathy 10.2
14 spastic paraplegia 17, autosomal dominant 10.0

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



Diseases related to Spastic Paraplegia 3

Symptoms & Phenotypes for Spastic Paraplegia 3

UMLS symptoms related to Spastic Paraplegia 3:


urgency of micturition, pain in lower limb, leg cramps

Drugs & Therapeutics for Spastic Paraplegia 3

Drugs for Spastic Paraplegia 3 (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 Serotonin Agents Phase 1
5 Serotonin Antagonists Phase 1
6 Platelet Aggregation Inhibitors Phase 1
7
Serotonin Investigational, Nutraceutical Phase 1 50-67-9 5202

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 Not Applicable
3 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428

Search NIH Clinical Center for Spastic Paraplegia 3

Genetic Tests for Spastic Paraplegia 3

Genetic tests related to Spastic Paraplegia 3:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 3 30 ATL1

Anatomical Context for Spastic Paraplegia 3

Publications for Spastic Paraplegia 3

Variations for Spastic Paraplegia 3

ClinVar genetic disease variations for Spastic Paraplegia 3:

6 (show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATL1 NM_001127713.1(ATL1): c.596T> A (p.Leu199Gln) single nucleotide variant Pathogenic rs797045004 GRCh38 Chromosome 14, 50595598: 50595598
2 ATL1 NM_001127713.1(ATL1): c.596T> A (p.Leu199Gln) single nucleotide variant Pathogenic rs797045004 GRCh37 Chromosome 14, 51062316: 51062316
3 ATL1 NM_015915.4(ATL1): c.300T> G (p.Val100=) single nucleotide variant Uncertain significance rs863224772 GRCh38 Chromosome 14, 50590958: 50590958
4 ATL1 NM_015915.4(ATL1): c.300T> G (p.Val100=) single nucleotide variant Uncertain significance rs863224772 GRCh37 Chromosome 14, 51057676: 51057676
5 ATL1 NM_015915.4(ATL1): c.1641G> A (p.Ser547=) single nucleotide variant Likely benign rs761099386 GRCh38 Chromosome 14, 50632303: 50632303
6 ATL1 NM_015915.4(ATL1): c.1641G> A (p.Ser547=) single nucleotide variant Likely benign rs761099386 GRCh37 Chromosome 14, 51099021: 51099021
7 ATL1 NM_015915.4(ATL1): c.757G> A (p.Val253Ile) single nucleotide variant Pathogenic/Likely pathogenic rs864622520 GRCh37 Chromosome 14, 51081124: 51081124
8 ATL1 NM_015915.4(ATL1): c.757G> A (p.Val253Ile) single nucleotide variant Pathogenic/Likely pathogenic rs864622520 GRCh38 Chromosome 14, 50614406: 50614406
9 ATL1 NM_015915.4(ATL1): c.1193C> A (p.Ser398Tyr) single nucleotide variant Likely pathogenic rs864622083 GRCh38 Chromosome 14, 50628104: 50628104
10 ATL1 NM_015915.4(ATL1): c.1193C> A (p.Ser398Tyr) single nucleotide variant Likely pathogenic rs864622083 GRCh37 Chromosome 14, 51094822: 51094822
11 ATL1 NM_015915.4(ATL1): c.1483C> T (p.Arg495Trp) single nucleotide variant Pathogenic/Likely pathogenic rs864622269 GRCh37 Chromosome 14, 51095112: 51095112
12 ATL1 NM_015915.4(ATL1): c.1483C> T (p.Arg495Trp) single nucleotide variant Pathogenic/Likely pathogenic rs864622269 GRCh38 Chromosome 14, 50628394: 50628394
13 ATL1 NM_015915.4(ATL1): c.715C> T (p.Arg239Cys) single nucleotide variant Pathogenic rs119476046 GRCh37 Chromosome 14, 51080061: 51080061
14 ATL1 NM_015915.4(ATL1): c.715C> T (p.Arg239Cys) single nucleotide variant Pathogenic rs119476046 GRCh38 Chromosome 14, 50613343: 50613343
15 ATL1 NM_001127713.1(ATL1): c.776C> A (p.Ser259Tyr) single nucleotide variant Pathogenic rs119476047 GRCh37 Chromosome 14, 51081143: 51081143
16 ATL1 NM_001127713.1(ATL1): c.776C> A (p.Ser259Tyr) single nucleotide variant Pathogenic rs119476047 GRCh38 Chromosome 14, 50614425: 50614425
17 ATL1 NM_015915.4(ATL1): c.773A> G (p.His258Arg) single nucleotide variant Pathogenic rs119476048 GRCh37 Chromosome 14, 51081140: 51081140
18 ATL1 NM_015915.4(ATL1): c.773A> G (p.His258Arg) single nucleotide variant Pathogenic rs119476048 GRCh38 Chromosome 14, 50614422: 50614422
19 ATL1 NM_015915.4(ATL1): c.650G> A (p.Arg217Gln) single nucleotide variant Likely pathogenic rs119476049 GRCh37 Chromosome 14, 51079996: 51079996
20 ATL1 NM_015915.4(ATL1): c.650G> A (p.Arg217Gln) single nucleotide variant Likely pathogenic rs119476049 GRCh38 Chromosome 14, 50613278: 50613278
21 ATL1 ATL1, 1-BP INS, 1688A insertion Pathogenic
22 ATL1 NM_015915.4(ATL1): c.1222A> G (p.Met408Val) single nucleotide variant Pathogenic rs28939094 GRCh37 Chromosome 14, 51094851: 51094851
23 ATL1 NM_015915.4(ATL1): c.1222A> G (p.Met408Val) single nucleotide variant Pathogenic rs28939094 GRCh38 Chromosome 14, 50628133: 50628133
24 ATL1 NM_015915.4(ATL1): c.1243C> T (p.Arg415Trp) single nucleotide variant Pathogenic/Likely pathogenic rs119476050 GRCh37 Chromosome 14, 51094872: 51094872
25 ATL1 NM_015915.4(ATL1): c.1243C> T (p.Arg415Trp) single nucleotide variant Pathogenic/Likely pathogenic rs119476050 GRCh38 Chromosome 14, 50628154: 50628154
26 ATL1 NM_001127713.1(ATL1): c.470T> G (p.Leu157Trp) single nucleotide variant Pathogenic rs119476051 GRCh37 Chromosome 14, 51058305: 51058305
27 ATL1 NM_001127713.1(ATL1): c.470T> G (p.Leu157Trp) single nucleotide variant Pathogenic rs119476051 GRCh38 Chromosome 14, 50591587: 50591587
28 ATL1 ATL1, 3-BP DEL deletion Pathogenic
29 ATL1 NM_001127713.1(ATL1): c.1519dupA (Ile507Asnfs) duplication Pathogenic rs863223314 GRCh37 Chromosome 14, 51095148: 51095148
30 ATL1 NM_001127713.1(ATL1): c.1519dupA (Ile507Asnfs) duplication Pathogenic rs863223314 GRCh38 Chromosome 14, 50628430: 50628430
31 ATL1 NM_015915.4(ATL1): c.129C> G (p.Asp43Glu) single nucleotide variant Benign rs17850684 GRCh37 Chromosome 14, 51054643: 51054643
32 ATL1 NM_015915.4(ATL1): c.129C> G (p.Asp43Glu) single nucleotide variant Benign rs17850684 GRCh38 Chromosome 14, 50587925: 50587925
33 ATL1 NM_015915.4(ATL1): c.351G> A (p.Glu117=) single nucleotide variant Benign rs1060197 GRCh37 Chromosome 14, 51057727: 51057727
34 ATL1 NM_015915.4(ATL1): c.351G> A (p.Glu117=) single nucleotide variant Benign rs1060197 GRCh38 Chromosome 14, 50591009: 50591009
35 ATL1 NM_015915.4(ATL1): c.467C> T (p.Thr156Ile) single nucleotide variant Pathogenic rs137852657 GRCh37 Chromosome 14, 51058302: 51058302
36 ATL1 NM_015915.4(ATL1): c.467C> T (p.Thr156Ile) single nucleotide variant Pathogenic rs137852657 GRCh38 Chromosome 14, 50591584: 50591584
37 ATL1 NM_015915.4(ATL1): c.578T> G (p.Phe193Cys) single nucleotide variant Benign rs17850683 GRCh37 Chromosome 14, 51062298: 51062298
38 ATL1 NM_015915.4(ATL1): c.578T> G (p.Phe193Cys) single nucleotide variant Benign rs17850683 GRCh38 Chromosome 14, 50595580: 50595580
39 ATL1 NM_015915.4(ATL1): c.621G> A (p.Lys207=) single nucleotide variant Benign/Likely benign rs35629585 GRCh37 Chromosome 14, 51062341: 51062341
40 ATL1 NM_015915.4(ATL1): c.621G> A (p.Lys207=) single nucleotide variant Benign/Likely benign rs35629585 GRCh38 Chromosome 14, 50595623: 50595623
41 ATL1 NM_015915.4(ATL1): c.84A> G (p.Pro28=) single nucleotide variant Benign rs35014209 GRCh37 Chromosome 14, 51054598: 51054598
42 ATL1 NM_015915.4(ATL1): c.84A> G (p.Pro28=) single nucleotide variant Benign rs35014209 GRCh38 Chromosome 14, 50587880: 50587880
43 ATL1 NM_015915.4(ATL1): c.196G> C (p.Glu66Gln) single nucleotide variant Uncertain significance rs200314808 GRCh37 Chromosome 14, 51054710: 51054710
44 ATL1 NM_015915.4(ATL1): c.196G> C (p.Glu66Gln) single nucleotide variant Uncertain significance rs200314808 GRCh38 Chromosome 14, 50587992: 50587992
45 ATL1 NM_001127713.1(ATL1): c.1246C> T (p.Arg416Cys) single nucleotide variant Pathogenic rs387906941 GRCh37 Chromosome 14, 51094875: 51094875
46 ATL1 NM_001127713.1(ATL1): c.1246C> T (p.Arg416Cys) single nucleotide variant Pathogenic rs387906941 GRCh38 Chromosome 14, 50628157: 50628157
47 ATL1 NM_015915.4(ATL1): c.1244G> A (p.Arg415Gln) single nucleotide variant Likely pathogenic rs397514712 GRCh37 Chromosome 14, 51094873: 51094873
48 ATL1 NM_015915.4(ATL1): c.1244G> A (p.Arg415Gln) single nucleotide variant Likely pathogenic rs397514712 GRCh38 Chromosome 14, 50628155: 50628155
49 ATL1 NM_015915.4(ATL1): c.630+7G> A single nucleotide variant Benign rs3759588 GRCh37 Chromosome 14, 51062357: 51062357
50 ATL1 NM_015915.4(ATL1): c.630+7G> A single nucleotide variant Benign rs3759588 GRCh38 Chromosome 14, 50595639: 50595639

Expression for Spastic Paraplegia 3

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

Pathways for Spastic Paraplegia 3

GO Terms for Spastic Paraplegia 3

Sources for Spastic Paraplegia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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45 MeSH
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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