MCID: SPS036
MIFTS: 23

Spastic Paraplegia 3

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

Aliases & Classifications for Spastic Paraplegia 3

MalaCards integrated aliases for Spastic Paraplegia 3:

Name: Spastic Paraplegia 3 53 29 6
Spastic Paraplegia 3, Autosomal Dominant 73
Spastic Paraplegia, Hereditary 73
Strumpell Disease 53
Spg3a 53
Spg3 53

Classifications:



External Ids:

UMLS 73 C2931355

Summaries for Spastic Paraplegia 3

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 leg cramps, pain in lower limb and urgency of micturition. 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. Affiliated tissues include lung.

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 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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 12.3
2 spastic paraplegia 3a 11.2
3 hereditary spastic paraplegia 11.0

Symptoms & Phenotypes for Spastic Paraplegia 3

UMLS symptoms related to Spastic Paraplegia 3:


leg cramps, pain in lower limb, urgency of micturition

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 Serotonin Agents Phase 1
4 Serotonin Antagonists Phase 1
5 Neurotransmitter Agents 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 29 ATL1

Anatomical Context for Spastic Paraplegia 3

MalaCards organs/tissues related to Spastic Paraplegia 3:

41
Lung

Publications for Spastic Paraplegia 3

Variations for Spastic Paraplegia 3

ClinVar genetic disease variations for Spastic Paraplegia 3:

6
(show top 50) (show all 100)
# 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_015915.4(ATL1): c.715C> T (p.Arg239Cys) single nucleotide variant Pathogenic rs119476046 GRCh38 Chromosome 14, 50613343: 50613343
3 ATL1 NM_001127713.1(ATL1): c.776C> A (p.Ser259Tyr) single nucleotide variant Pathogenic rs119476047 GRCh37 Chromosome 14, 51081143: 51081143
4 ATL1 NM_001127713.1(ATL1): c.776C> A (p.Ser259Tyr) single nucleotide variant Pathogenic rs119476047 GRCh38 Chromosome 14, 50614425: 50614425
5 ATL1 NM_015915.4(ATL1): c.773A> G (p.His258Arg) single nucleotide variant Pathogenic rs119476048 GRCh37 Chromosome 14, 51081140: 51081140
6 ATL1 NM_015915.4(ATL1): c.773A> G (p.His258Arg) single nucleotide variant Pathogenic rs119476048 GRCh38 Chromosome 14, 50614422: 50614422
7 ATL1 NM_015915.4(ATL1): c.650G> A (p.Arg217Gln) single nucleotide variant Likely pathogenic rs119476049 GRCh37 Chromosome 14, 51079996: 51079996
8 ATL1 NM_015915.4(ATL1): c.650G> A (p.Arg217Gln) single nucleotide variant Likely pathogenic rs119476049 GRCh38 Chromosome 14, 50613278: 50613278
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.1222A> G (p.Met408Val) single nucleotide variant Pathogenic rs28939094 GRCh38 Chromosome 14, 50628133: 50628133
12 ATL1 NM_015915.4(ATL1): c.1243C> T (p.Arg415Trp) single nucleotide variant Pathogenic/Likely pathogenic rs119476050 GRCh37 Chromosome 14, 51094872: 51094872
13 ATL1 NM_015915.4(ATL1): c.1243C> T (p.Arg415Trp) single nucleotide variant Pathogenic/Likely pathogenic rs119476050 GRCh38 Chromosome 14, 50628154: 50628154
14 ATL1 NM_001127713.1(ATL1): c.470T> G (p.Leu157Trp) single nucleotide variant Pathogenic rs119476051 GRCh37 Chromosome 14, 51058305: 51058305
15 ATL1 NM_001127713.1(ATL1): c.470T> G (p.Leu157Trp) single nucleotide variant Pathogenic rs119476051 GRCh38 Chromosome 14, 50591587: 50591587
16 ATL1 ATL1, 3-BP DEL deletion Pathogenic
17 ATL1 NM_001127713.1(ATL1): c.1519dupA (Ile507Asnfs) duplication Pathogenic rs863223314 GRCh37 Chromosome 14, 51095148: 51095148
18 ATL1 NM_001127713.1(ATL1): c.1519dupA (Ile507Asnfs) duplication Pathogenic rs863223314 GRCh38 Chromosome 14, 50628430: 50628430
19 ATL1 NM_015915.4(ATL1): c.467C> T (p.Thr156Ile) single nucleotide variant Pathogenic rs137852657 GRCh37 Chromosome 14, 51058302: 51058302
20 ATL1 NM_015915.4(ATL1): c.467C> T (p.Thr156Ile) single nucleotide variant Pathogenic rs137852657 GRCh38 Chromosome 14, 50591584: 50591584
21 ATL1 NM_001127713.1(ATL1): c.1246C> T (p.Arg416Cys) single nucleotide variant Pathogenic rs387906941 GRCh37 Chromosome 14, 51094875: 51094875
22 ATL1 NM_001127713.1(ATL1): c.1246C> T (p.Arg416Cys) single nucleotide variant Pathogenic rs387906941 GRCh38 Chromosome 14, 50628157: 50628157
23 ATL1 NM_015915.4(ATL1): c.1244G> A (p.Arg415Gln) single nucleotide variant Likely pathogenic rs397514712 GRCh37 Chromosome 14, 51094873: 51094873
24 ATL1 NM_015915.4(ATL1): c.1244G> A (p.Arg415Gln) single nucleotide variant Likely pathogenic rs397514712 GRCh38 Chromosome 14, 50628155: 50628155
25 ATL1 NM_001127713.1(ATL1): c.596T> A (p.Leu199Gln) single nucleotide variant Pathogenic rs797045004 GRCh38 Chromosome 14, 50595598: 50595598
26 ATL1 NM_001127713.1(ATL1): c.596T> A (p.Leu199Gln) single nucleotide variant Pathogenic rs797045004 GRCh37 Chromosome 14, 51062316: 51062316
27 ATL1 NM_015915.4(ATL1): c.300T> G (p.Val100=) single nucleotide variant Uncertain significance rs863224772 GRCh38 Chromosome 14, 50590958: 50590958
28 ATL1 NM_015915.4(ATL1): c.300T> G (p.Val100=) single nucleotide variant Uncertain significance rs863224772 GRCh37 Chromosome 14, 51057676: 51057676
29 ATL1 NM_015915.4(ATL1): c.1641G> A (p.Ser547=) single nucleotide variant Likely benign rs761099386 GRCh38 Chromosome 14, 50632303: 50632303
30 ATL1 NM_015915.4(ATL1): c.1641G> A (p.Ser547=) single nucleotide variant Likely benign rs761099386 GRCh37 Chromosome 14, 51099021: 51099021
31 ATL1 NM_015915.4(ATL1): c.1193C> A (p.Ser398Tyr) single nucleotide variant Likely pathogenic rs864622083 GRCh38 Chromosome 14, 50628104: 50628104
32 ATL1 NM_015915.4(ATL1): c.1193C> A (p.Ser398Tyr) single nucleotide variant Likely pathogenic rs864622083 GRCh37 Chromosome 14, 51094822: 51094822
33 ATL1 NM_015915.4(ATL1): c.757G> A (p.Val253Ile) single nucleotide variant Pathogenic/Likely pathogenic rs864622520 GRCh37 Chromosome 14, 51081124: 51081124
34 ATL1 NM_015915.4(ATL1): c.757G> A (p.Val253Ile) single nucleotide variant Pathogenic/Likely pathogenic rs864622520 GRCh38 Chromosome 14, 50614406: 50614406
35 ATL1 NM_015915.4(ATL1): c.1483C> T (p.Arg495Trp) single nucleotide variant Pathogenic/Likely pathogenic rs864622269 GRCh37 Chromosome 14, 51095112: 51095112
36 ATL1 NM_015915.4(ATL1): c.1483C> T (p.Arg495Trp) single nucleotide variant Pathogenic/Likely pathogenic rs864622269 GRCh38 Chromosome 14, 50628394: 50628394
37 ATL1 NM_015915.4(ATL1): c.1230G> A (p.Gly410=) single nucleotide variant Benign rs148548325 GRCh37 Chromosome 14, 51094859: 51094859
38 ATL1 NM_015915.4(ATL1): c.1230G> A (p.Gly410=) single nucleotide variant Benign rs148548325 GRCh38 Chromosome 14, 50628141: 50628141
39 ATL1 NM_015915.4(ATL1): c.417+3A> G single nucleotide variant Benign/Likely benign rs200310890 GRCh38 Chromosome 14, 50591078: 50591078
40 ATL1 NM_015915.4(ATL1): c.417+3A> G single nucleotide variant Benign/Likely benign rs200310890 GRCh37 Chromosome 14, 51057796: 51057796
41 ATL1 NM_015915.4(ATL1): c.705C> T (p.Phe235=) single nucleotide variant Benign/Likely benign rs35044504 GRCh37 Chromosome 14, 51080051: 51080051
42 ATL1 NM_015915.4(ATL1): c.705C> T (p.Phe235=) single nucleotide variant Benign/Likely benign rs35044504 GRCh38 Chromosome 14, 50613333: 50613333
43 ATL1 NM_015915.4(ATL1): c.991-6T> G single nucleotide variant Benign/Likely benign rs192428744 GRCh38 Chromosome 14, 50621837: 50621837
44 ATL1 NM_015915.4(ATL1): c.991-6T> G single nucleotide variant Benign/Likely benign rs192428744 GRCh37 Chromosome 14, 51088555: 51088555
45 ATL1 NM_015915.4(ATL1): c.408T> C (p.Asp136=) single nucleotide variant Benign/Likely benign rs76375909 GRCh38 Chromosome 14, 50591066: 50591066
46 ATL1 NM_015915.4(ATL1): c.408T> C (p.Asp136=) single nucleotide variant Benign/Likely benign rs76375909 GRCh37 Chromosome 14, 51057784: 51057784
47 ATL1 NM_015915.4(ATL1): c.669C> T (p.Tyr223=) single nucleotide variant Benign/Likely benign rs146975855 GRCh38 Chromosome 14, 50613297: 50613297
48 ATL1 NM_015915.4(ATL1): c.669C> T (p.Tyr223=) single nucleotide variant Benign/Likely benign rs146975855 GRCh37 Chromosome 14, 51080015: 51080015
49 ATL1 NM_015915.4(ATL1): c.693T> C (p.Gly231=) single nucleotide variant Benign/Likely benign rs139720661 GRCh38 Chromosome 14, 50613321: 50613321
50 ATL1 NM_015915.4(ATL1): c.693T> C (p.Gly231=) single nucleotide variant Benign/Likely benign rs139720661 GRCh37 Chromosome 14, 51080039: 51080039

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 ExPASy
19 FMA
28 GO
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30 HGMD
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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