SPG3
MCID: SPS036
MIFTS: 32

Spastic Paraplegia 3 (SPG3)

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

Aliases & Classifications for Spastic Paraplegia 3

MalaCards integrated aliases for Spastic Paraplegia 3:

Name: Spastic Paraplegia 3 20 6
Spastic Paraplegia 3, Autosomal Dominant 70
Spastic Paraplegia, Hereditary 70
Strumpell Disease 20
Spg3a 20
Spg3 20

Classifications:



External Ids:

UMLS 70 C0037773 C2931355

Summaries for Spastic Paraplegia 3

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100984 Definition 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.

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 Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and cortex.

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, Autosomal Recessive 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 Dominant
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 Spastic Paraplegia 80, Autosomal Dominant
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 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 32
Spastic Paraplegia 39 Spastic Paraplegia 47
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 36)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 11.6
2 spastic paraplegia 3a 11.3
3 hereditary spastic paraplegia 11.2
4 spondyloarthropathy 1 11.1
5 spastic paraplegia 4, autosomal dominant 11.0
6 spastic paraplegia 20, autosomal recessive 11.0
7 spastic paraplegia 2, x-linked 11.0
8 neuropathy, hereditary sensory, type id 11.0
9 spastic paraplegia 9a, autosomal dominant 10.9
10 spastic paraplegia 8, autosomal dominant 10.9
11 spastic paraplegia 12, autosomal dominant 10.9
12 spastic paraplegia 30, autosomal dominant 10.9
13 spastic paraplegia 72, autosomal recessive 10.9
14 spastic paraplegia 80, autosomal dominant 10.9
15 paraplegia 10.6
16 spasticity 10.4
17 spastic paraplegia 4 10.4
18 hereditary sensory and autonomic neuropathy type 1 10.1
19 axonal neuropathy 10.1
20 neuropathy 10.1
21 spastic paraplegia 6, autosomal dominant 10.0
22 cerebral palsy 10.0
23 spastic paraparesis 10.0
24 spastic paraplegia 6 10.0
25 x-linked complicated spastic paraplegia type 1 10.0
26 wilson disease 10.0
27 inflammatory spondylopathy 10.0
28 spondylitis 10.0
29 amyotrophic lateral sclerosis 1 9.8
30 spastic paraplegia 13, autosomal dominant 9.8
31 spastic diplegia 9.8
32 lateral sclerosis 9.8
33 peripheral nervous system disease 9.8
34 stomatitis 9.8
35 spastic paraplegia 13 9.8
36 autosomal dominant pure spastic paraplegia 9.8

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 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Cholinergic Agents Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Botulinum Toxins Phase 2, Phase 3
5
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
6
Atorvastatin Approved Phase 2 134523-00-5 60823
7
Evolocumab Approved Phase 1, Phase 2 1256937-27-5
8
Resveratrol Investigational Phase 2 501-36-0 445154
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
10 Antirheumatic Agents Phase 2
11 Antioxidants Phase 2
12 Cathartics Phase 2
13 Gastrointestinal Agents Phase 2
14 Anti-Inflammatory Agents Phase 2
15 Protective Agents Phase 2
16 Platelet Aggregation Inhibitors Phase 2
17 Laxatives Phase 2
18 Analgesics Phase 2
19 Anti-Inflammatory Agents, Non-Steroidal Phase 2
20 Analgesics, Non-Narcotic Phase 2
21 Anticholesteremic Agents Phase 1, Phase 2
22 Antimetabolites Phase 1, Phase 2
23 Hypolipidemic Agents Phase 1, Phase 2
24 Lipid Regulating Agents Phase 1, Phase 2
25
Idebenone Approved, Investigational 58186-27-9
26
Choline Approved, Nutraceutical 62-49-7 305
27
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
28
Aspartic acid Approved, Nutraceutical 56-84-8 5960
29 N-Methylaspartate

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study Completed NCT02604186 Phase 2, Phase 3
2 Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5 Completed NCT02314208 Phase 2 Xenbilox;Tahor
3 Design and Validation of a Modular Physiotherapy Concept for the Treatment of Hereditary Spastic Spinal Paralysis (HSP) - a Randomized Study Completed NCT03961906 Phase 2
4 PCSK9 Inhibitor Treatment for Patients With Hereditary Spastic Paraplegia Type 5 Recruiting NCT04101643 Phase 1, Phase 2 evolocumab
5 A Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416
6 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Completed NCT02852278
7 Nuclear Magnetic Spectroscopy for the Evaluation of Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
8 Studying Cognition in SPG4 Compared to Healthy Controls Completed NCT03104088
9 Improving Gait Adaptability in Hereditary Spastic Paraplegia During Task-specific Training on the C-Mill: Towards Evidence-Based and Individually Tailored Rehabilitation Recruiting NCT04180098
10 Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood Recruiting NCT01568658
11 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
12 Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders Recruiting NCT03981276
13 Registry and Natural History Study for AP-4 Associated Hereditary Spastic Paraplegia (AP-4-HSP) Recruiting NCT04712812
14 Studying the Presymptomatic and Early Phase of SPG4 Recruiting NCT03206190
15 Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31 Terminated NCT02859428

Search NIH Clinical Center for Spastic Paraplegia 3

Genetic Tests for Spastic Paraplegia 3

Anatomical Context for Spastic Paraplegia 3

MalaCards organs/tissues related to Spastic Paraplegia 3:

40
Eye, Cortex

Publications for Spastic Paraplegia 3

Articles related to Spastic Paraplegia 3:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. 61 6
19652243 2009
2
Three novel mutations in 20 patients with hereditary spastic paraparesis. 6
29907907 2018
3
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. 6
29980238 2018
4
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. 6
29691679 2018
5
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. 6
26888483 2016
6
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 6
26671083 2015
7
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 6
26208798 2015
8
De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling. 6
25637064 2015
9
ER network formation and membrane fusion by atlastin1/SPG3A disease variants. 6
25761634 2015
10
Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia. 6
25454648 2014
11
Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 6
24604904 2014
12
'When atlastin meets spastin'. 6
24417445 2014
13
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. 6
24451228 2014
14
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6
24482476 2014
15
Atlastin-1 regulates dendritic morphogenesis in mouse cerebral cortex. 6
23999326 2013
16
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. 6
23483706 2013
17
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. 6
23233086 2013
18
Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking. 6
23079343 2013
19
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia. 6
22581552 2012
20
Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation. 6
21336785 2011
21
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 6
20718791 2011
22
Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes. 6
21368113 2011
23
Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A. 6
21220294 2011
24
The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. 6
20816793 2011
25
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. 6
20932283 2010
26
Spastic Paraplegia 3A 6
20862796 2010
27
Complex phenotype in an Italian family with a novel mutation in SPG3A. 6
19768483 2010
28
Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3. 6
20947813 2010
29
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. 6
19423133 2009
30
Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype. 6
19459885 2009
31
Hereditary spastic paraplegias: an update. 6
17992088 2007
32
Characterization of a novel SPG3A deletion in a French-Canadian family. 6
17427918 2007
33
Hereditary spastic paraplegia 3A associated with axonal neuropathy. 6
17502470 2007
34
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. 6
17321752 2007
35
[SPG3A-hereditary spastin paraplegia with genetic anticipation and incomplete penetrance]. 6
17285536 2007
36
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. 6
16612642 2006
37
SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. 6
16537571 2006
38
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. 6
16533974 2006
39
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. 6
16401858 2006
40
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. 6
15742100 2005
41
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. 6
15596607 2004
42
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. 6
15517445 2004
43
Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. 6
15477516 2004
44
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. 6
15184642 2004
45
SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. 6
14607301 2003
46
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. 6
12939451 2003
47
SPG3A: An additional family carrying a new atlastin mutation. 6
12499504 2002
48
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. 6
12112092 2002
49
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. 6
11685207 2001
50
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. 6
8252041 1993

Variations for Spastic Paraplegia 3

ClinVar genetic disease variations for Spastic Paraplegia 3:

6 (show top 50) (show all 163)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATL1 NM_001127713.1(ATL1):c.467C>T (p.Thr156Ile) SNV Pathogenic 21531 rs137852657 GRCh37: 14:51058302-51058302
GRCh38: 14:50591584-50591584
2 ATL1 NM_001127713.1(ATL1):c.1246C>T (p.Arg416Cys) SNV Pathogenic 30582 rs387906941 GRCh37: 14:51094875-51094875
GRCh38: 14:50628157-50628157
3 ATL1 NM_015915.5(ATL1):c.596T>A (p.Leu199Gln) SNV Pathogenic 208489 rs797045004 GRCh37: 14:51062316-51062316
GRCh38: 14:50595598-50595598
4 ATL1 NM_001127713.1(ATL1):c.1483C>T (p.Arg495Trp) SNV Pathogenic 219827 rs864622269 GRCh37: 14:51095112-51095112
GRCh38: 14:50628394-50628394
5 ATL1 NM_001127713.1(ATL1):c.757G>A (p.Val253Ile) SNV Pathogenic 220424 rs864622520 GRCh37: 14:51081124-51081124
GRCh38: 14:50614406-50614406
6 ATL1 NM_001127713.1(ATL1):c.572A>G (p.Gln191Arg) SNV Pathogenic 576063 rs1566725003 GRCh37: 14:51060613-51060613
GRCh38: 14:50593895-50593895
7 ATL1 NM_001127713.1(ATL1):c.781_782insA (p.Phe261fs) Insertion Pathogenic 503888 rs1181733510 GRCh37: 14:51081148-51081149
GRCh38: 14:50614430-50614431
8 ATL1 NM_001127713.1(ATL1):c.1048G>A (p.Ala350Thr) SNV Pathogenic 654142 rs1595621292 GRCh37: 14:51089895-51089895
GRCh38: 14:50623177-50623177
9 ATL1 NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) SNV Pathogenic 4346 rs119476046 GRCh37: 14:51080061-51080061
GRCh38: 14:50613343-50613343
10 ATL1 NM_015915.5(ATL1):c.488T>C (p.Val163Ala) SNV Pathogenic 803025 rs1595600383 GRCh37: 14:51058323-51058323
GRCh38: 14:50591605-50591605
11 ATL1 NM_015915.5(ATL1):c.1223T>C (p.Met408Thr) SNV Pathogenic 803026 rs1595625113 GRCh37: 14:51094852-51094852
GRCh38: 14:50628134-50628134
12 ATL1 NC_000014.9:g.(?_50560256)_(50632349_?)del Deletion Pathogenic 831440 GRCh37: 14:51026974-51099067
GRCh38:
13 ATL1 NM_001127713.1(ATL1):c.1306_1308del (p.Asn436del) Deletion Pathogenic 4354 rs1595625206 GRCh37: 14:51094935-51094937
GRCh38: 14:50628217-50628219
14 ATL1 NM_001127713.1(ATL1):c.470T>G (p.Leu157Trp) SNV Pathogenic 4353 rs119476051 GRCh37: 14:51058305-51058305
GRCh38: 14:50591587-50591587
15 ATL1 NM_001127713.1(ATL1):c.1243C>T (p.Arg415Trp) SNV Pathogenic 4352 rs119476050 GRCh37: 14:51094872-51094872
GRCh38: 14:50628154-50628154
16 ATL1 NM_015915.5(ATL1):c.776C>T (p.Ser259Phe) SNV Pathogenic 949900 GRCh37: 14:51081143-51081143
GRCh38: 14:50614425-50614425
17 ATL1 ATL1, 1-BP INS, 1688A Insertion Pathogenic 4350 GRCh37:
GRCh38:
18 ATL1 NM_001127713.1(ATL1):c.650G>A (p.Arg217Gln) SNV Pathogenic 4349 rs119476049 GRCh37: 14:51079996-51079996
GRCh38: 14:50613278-50613278
19 ATL1 NM_001127713.1(ATL1):c.773A>G (p.His258Arg) SNV Pathogenic 4348 rs119476048 GRCh37: 14:51081140-51081140
GRCh38: 14:50614422-50614422
20 ATL1 NM_001127713.1(ATL1):c.776C>A (p.Ser259Tyr) SNV Pathogenic 4347 rs119476047 GRCh37: 14:51081143-51081143
GRCh38: 14:50614425-50614425
21 ATL1 NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) SNV Pathogenic 4346 rs119476046 GRCh37: 14:51080061-51080061
GRCh38: 14:50613343-50613343
22 ATL1 NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter) SNV Pathogenic 982034 GRCh37: 14:51095101-51095101
GRCh38: 14:50628383-50628383
23 ATL1 NM_001127713.1(ATL1):c.1519dupA (Ile507Asnfs) Duplication Pathogenic 21528 rs863223314 GRCh37: 14:51095146-51095147
GRCh38: 14:50628428-50628429
24 ATL1 NM_001127713.1(ATL1):c.1160T>C (p.Leu387Ser) SNV Pathogenic/Likely pathogenic 659129 rs1595625010 GRCh37: 14:51094789-51094789
GRCh38: 14:50628071-50628071
25 ATL1 NC_000014.9:g.(?_50590931)_(50632349_?)del Deletion Likely pathogenic 832644 GRCh37: 14:51057649-51099067
GRCh38:
26 ATL1 NM_015915.5(ATL1):c.1217_1219AGA[1] (p.Lys407del) Microsatellite Likely pathogenic 807547 rs1595625099 GRCh37: 14:51094844-51094846
GRCh38: 14:50628126-50628128
27 ATL1 NM_015915.5(ATL1):c.1216A>G (p.Lys406Glu) SNV Likely pathogenic 827813 rs1595625104 GRCh37: 14:51094845-51094845
GRCh38: 14:50628127-50628127
28 ATL1 NM_015915.5(ATL1):c.1511del (p.Gly504fs) Deletion Likely pathogenic 623150 rs1566735903 GRCh37: 14:51095138-51095138
GRCh38: 14:50628420-50628420
29 ATL1 NM_001127713.1(ATL1):c.1068T>A (p.Asn356Lys) SNV Likely pathogenic 640724 rs1595621335 GRCh37: 14:51089915-51089915
GRCh38: 14:50623197-50623197
30 ATL1 NM_001127713.1(ATL1):c.1193C>A (p.Ser398Tyr) SNV Likely pathogenic 219428 rs864622083 GRCh37: 14:51094822-51094822
GRCh38: 14:50628104-50628104
31 ATL1 NM_001127713.1(ATL1):c.594A>C (p.Arg198Ser) SNV Likely pathogenic 471250 rs1555364247 GRCh37: 14:51062314-51062314
GRCh38: 14:50595596-50595596
32 ATL1 NM_001127713.1(ATL1):c.536C>A (p.Ser179Tyr) SNV Likely pathogenic 538581 rs1555364149 GRCh37: 14:51060577-51060577
GRCh38: 14:50593859-50593859
33 ATL1 NM_015915.5(ATL1):c.574C>T (p.Leu192Phe) SNV Likely pathogenic 974835 GRCh37: 14:51062294-51062294
GRCh38: 14:50595576-50595576
34 ATL1 NM_015915.5(ATL1):c.1119G>A (p.Glu373=) SNV Likely pathogenic 951549 GRCh37: 14:51089966-51089966
GRCh38: 14:50623248-50623248
35 ATL1 NM_001127713.1(ATL1):c.1222A>G (p.Met408Val) SNV Likely pathogenic 4351 rs28939094 GRCh37: 14:51094851-51094851
GRCh38: 14:50628133-50628133
36 ATL1 NM_015915.5(ATL1):c.716G>T (p.Arg239Leu) SNV Likely pathogenic 859493 GRCh37: 14:51080062-51080062
GRCh38: 14:50613344-50613344
37 ATL1 NM_001127713.1(ATL1):c.756C>T (p.Asn252=) SNV Conflicting interpretations of pathogenicity 313301 rs771031586 GRCh37: 14:51081123-51081123
GRCh38: 14:50614405-50614405
38 ATL1 NM_001127713.1(ATL1):c.1608T>G (p.Ala536=) SNV Conflicting interpretations of pathogenicity 313307 rs777479928 GRCh37: 14:51099003-51099003
GRCh38: 14:50632285-50632285
39 ATL1 NM_001127713.1(ATL1):c.1024C>G (p.Pro342Ala) SNV Conflicting interpretations of pathogenicity 538579 rs1555365509 GRCh37: 14:51088594-51088594
GRCh38: 14:50621876-50621876
40 ATL1 NM_001127713.1(ATL1):c.1152A>G (p.Pro384=) SNV Conflicting interpretations of pathogenicity 313304 rs377127492 GRCh37: 14:51094781-51094781
GRCh38: 14:50628063-50628063
41 ATL1 NM_001127713.1(ATL1):c.1414A>G (p.Ile472Val) SNV Uncertain significance 654145 rs374047535 GRCh37: 14:51095043-51095043
GRCh38: 14:50628325-50628325
42 ATL1 NM_001127713.1(ATL1):c.756C>A (p.Asn252Lys) SNV Uncertain significance 661543 rs771031586 GRCh37: 14:51081123-51081123
GRCh38: 14:50614405-50614405
43 ATL1 NM_001127713.1(ATL1):c.1502G>C (p.Arg501Pro) SNV Uncertain significance 665259 rs374795927 GRCh37: 14:51095131-51095131
GRCh38: 14:50628413-50628413
44 ATL1 NM_015915.5(ATL1):c.918T>G (p.Ser306Arg) SNV Uncertain significance 845270 GRCh37: 14:51087372-51087372
GRCh38: 14:50620654-50620654
45 ATL1 NM_015915.5(ATL1):c.860A>G (p.Lys287Arg) SNV Uncertain significance 846995 GRCh37: 14:51081227-51081227
GRCh38: 14:50614509-50614509
46 ATL1 NM_015915.5(ATL1):c.1355T>C (p.Phe452Ser) SNV Uncertain significance 857576 GRCh37: 14:51094984-51094984
GRCh38: 14:50628266-50628266
47 ATL1 NM_015915.5(ATL1):c.1247G>A (p.Arg416His) SNV Uncertain significance 858305 GRCh37: 14:51094876-51094876
GRCh38: 14:50628158-50628158
48 ATL1 NM_001127713.1(ATL1):c.1488C>A (p.Tyr496Ter) SNV Uncertain significance 640860 rs779304953 GRCh37: 14:51095117-51095117
GRCh38: 14:50628399-50628399
49 ATL1 NM_001127713.1(ATL1):c.540A>C (p.Gln180His) SNV Uncertain significance 644409 rs1595602064 GRCh37: 14:51060581-51060581
GRCh38: 14:50593863-50593863
50 ATL1 NM_001127713.1(ATL1):c.1334C>T (p.Ala445Val) SNV Uncertain significance 645964 rs1595625262 GRCh37: 14:51094963-51094963
GRCh38: 14:50628245-50628245

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....