SPG3
MCID: SPS215
MIFTS: 54

Spastic Paraplegia 3, Autosomal Dominant (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, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 3, Autosomal Dominant:

Name: Spastic Paraplegia 3, Autosomal Dominant 57 75 73
Spg3a 57 12 75 55
Strumpell Disease 57 12 75
Fsp1 57 12 75
Autosomal Dominant Spastic Paraplegia Type 3 12 59
Spastic Paraplegia 3a, Autosomal Dominant 57 13
Hereditary Spastic Paraplegia 3a 12 15
Spg3 57 75
Familial Spastic Paraplegia, Autosomal Dominant, 1; Fsp1 57
Familial Spastic Paraplegia, Autosomal Dominant, 1 57
Autosomal Dominant Familial Spastic Paraplegia 1 12
Familial Spastic Paraplegia Autosomal Dominant 1 75
Paraplegia, Spastic, Autosomal Dominant, Type 3a 40
Autosomal Dominant Spastic Paraplegia 3 12
Spastic Paraplegia, Hereditary 73
Strumpell-Lorrain Syndrome 75
Strümpell Disease 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 3
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Portugal),1-9/1000000 (Europe); Age of onset: Adult,Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
insidious onset
reduced penetrance
highly variable severity
usually shows early age at onset (range 1 to 7 years, mean 4.6 years)
later onset has been rarely reported (up to age 68 years)
most patients need assistance walking or are wheelchair-bound
variable progression


HPO:

32
spastic paraplegia 3, autosomal dominant:
Onset and clinical course variable expressivity incomplete penetrance insidious onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 3, Autosomal Dominant

OMIM : 57 The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see 270800), and X-linked (see 303350)) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by Strumpell (1904), many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. (182600)

MalaCards based summary : Spastic Paraplegia 3, Autosomal Dominant, also known as spg3a, is related to spastic paraplegia 8, autosomal dominant and spastic paraplegia 12, autosomal dominant, and has symptoms including urgency of micturition, pain in lower limb and leg cramps. An important gene associated with Spastic Paraplegia 3, Autosomal Dominant is ATL1 (Atlastin GTPase 1), and among its related pathways/superpathways are Cell cycle and Wnt / Hedgehog / Notch. The drugs Sarpogrelate and Fibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are dysarthria and growth delay

Disease Ontology : 12 A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has material basis in mutation in the ATL1 gene on chromosome 14q22.

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 3, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

Related Diseases for Spastic Paraplegia 3, Autosomal Dominant

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
Spastic Paraplegia Type 49 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 Autosomal Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 8, autosomal dominant 31.4 SPG11 REEP1 NIPA1 ATL1
2 spastic paraplegia 12, autosomal dominant 31.3 ZFYVE27 SPAST RTN2 REEP1 ATL1
3 hereditary spastic paraplegia 31.3 ZFYVE27 SPG11 SPAST RTN2 REEP1 NIPA1
4 spastic paraplegia 4, autosomal dominant 30.8 ZFYVE27 SPG11 SPAST RTN2 REEP1 NIPA1
5 paraplegia 30.4 ZFYVE27 SPG11 SPAST RTN2 REEP1 NIPA1
6 spastic paraplegia 3a 11.3
7 spastic paraplegia 3 11.3
8 spondyloarthropathy 1 11.1
9 spastic paraplegia 9a, autosomal dominant 11.0
10 neuropathy, hereditary sensory, type id 11.0
11 spastic paraplegia 72, autosomal recessive 11.0
12 neuropathy 10.3
13 spastic paraplegia 13, autosomal dominant 10.2 SPAST ATL1
14 spastic paraplegia 32, autosomal recessive 10.2 SPG11 ATL1
15 axonal neuropathy 10.2
16 gastric signet ring cell adenocarcinoma 10.1 SNAI1 CDH1
17 spastic paraplegia 18, autosomal recessive 10.1 REEP1 NIPA1
18 spastic paraplegia 42, autosomal dominant 10.1 REEP1 NIPA1
19 adenoid squamous cell carcinoma 10.1 HBA1 CDH1
20 iga glomerulonephritis 10.1
21 ankylosis 10.1
22 spastic paraparesis 10.0 SPAST SPG11
23 spastic paraplegia 17, autosomal dominant 10.0
24 spastic paraplegia 61, autosomal recessive 10.0 SPAST RTN2 REEP1 ATL1
25 drug-induced lupus erythematosus 10.0 HBA1 CDH5
26 spastic paraplegia 6, autosomal dominant 10.0 SPAST REEP1 NIPA1 ATL1
27 spastic paraplegia 33, autosomal dominant 9.9 ZFYVE27 SPAST RTN2 REEP1
28 spastic paraplegia 2, x-linked 9.9 ZFYVE27 RTN2 REEP1 ATL1
29 autosomal recessive cutis laxa type i 9.8 TGFB1 SMAD2
30 masa syndrome 9.8 SPG11 SPAST REEP1 NIPA1 ATL1
31 hypertrophic scars 9.8 TGFB1 SMAD2
32 penile disease 9.8 TGFB1 SMAD2
33 spastic paraplegia 10, autosomal dominant 9.8 ZFYVE27 SPG11 RTN2 REEP1 ATL1
34 keloids 9.8 TGFB1 SMAD2
35 ureteral disease 9.8 TGFB1 SMAD2 CDH1
36 urinary tract obstruction 9.8 TGFB1 SMAD2 CDH1
37 oral submucous fibrosis 9.8 CDH1 TGFB1
38 nephrogenic systemic fibrosis 9.8 TGFB1 SMAD2
39 renal fibrosis 9.8 TGFB1 SMAD2 CDH1
40 large intestine cancer 9.7 SNAI1 SMAD2 HBA1 CDH1
41 spastic paraplegia 31, autosomal dominant 9.7 ZFYVE27 SPG11 SPAST RTN2 REEP1 ATL1
42 pulmonary fibrosis, idiopathic 9.7 TGFB1 SMAD2 CDH1

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



Diseases related to Spastic Paraplegia 3, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 3, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
delayed motor development
extensor plantar responses
more
Neurologic Peripheral Nervous System:
degeneration of the lateral corticospinal tracts
decreased vibratory sense in lower limbs after long disease duration

Skeletal Feet:
pes cavus in patients with early onset

Skeletal Spine:
scoliosis

Genitourinary Bladder:
urinary urgency
urinary incontinence
sphincter disturbances


Clinical features from OMIM:

182600

Human phenotypes related to Spastic Paraplegia 3, Autosomal Dominant:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 very rare (1%) Very rare (<4-1%) HP:0001260
2 growth delay 59 32 very rare (1%) Very rare (<4-1%) HP:0001510
3 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
4 toe walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0040083
5 motor delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001270
6 rigidity 59 32 very rare (1%) Very rare (<4-1%) HP:0002063
7 bradykinesia 59 32 very rare (1%) Very rare (<4-1%) HP:0002067
8 lower limb spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002061
9 ankle clonus 59 32 frequent (33%) Frequent (79-30%) HP:0011448
10 urinary urgency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000012
11 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
12 distal lower limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009053
13 frequent falls 59 32 very rare (1%) Very rare (<4-1%) HP:0002359
14 lower limb hypertonia 59 32 very rare (1%) Very rare (<4-1%) HP:0006895
15 hyperesthesia 59 32 very rare (1%) Very rare (<4-1%) HP:0100963
16 impaired vibratory sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002495
17 distal lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008944
18 lower limb hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002395
19 gait disturbance 59 Frequent (79-30%)
20 hyperreflexia 32 HP:0001347
21 scoliosis 32 HP:0002650
22 intellectual disability, mild 32 occasional (7.5%) HP:0001256
23 peripheral neuropathy 59 Occasional (29-5%)
24 pes cavus 32 HP:0001761
25 urinary bladder sphincter dysfunction 32 HP:0002839
26 spastic paraplegia 32 HP:0001258
27 lower limb muscle weakness 32 HP:0007340
28 impaired vibration sensation in the lower limbs 32 HP:0002166
29 degeneration of the lateral corticospinal tracts 32 HP:0002314
30 urinary incontinence 32 HP:0000020
31 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
32 paraplegia 32 HP:0010550

UMLS symptoms related to Spastic Paraplegia 3, Autosomal Dominant:


urgency of micturition, pain in lower limb, leg cramps

MGI Mouse Phenotypes related to Spastic Paraplegia 3, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.23 CDH1 CDH5 REEP1 RTN2 SMAD2 SNAI1

Drugs & Therapeutics for Spastic Paraplegia 3, Autosomal Dominant

Drugs for Spastic Paraplegia 3, Autosomal Dominant (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, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 3, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 3, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 3, Autosomal Dominant:

41
Skin, Bone, Eye

Publications for Spastic Paraplegia 3, Autosomal Dominant

Articles related to Spastic Paraplegia 3, Autosomal Dominant:

# Title Authors Year
1
De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling. ( 25637064 )
2015
2
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. ( 23233086 )
2013
3
The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. ( 20816793 )
2011
4
Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype. ( 18446315 )
2008
5
Hereditary spastic paraplegia 3A associated with axonal neuropathy. ( 17502470 )
2007
6
SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. ( 16537571 )
2006
7
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. ( 16612642 )
2006
8
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. ( 15742100 )
2005
9
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. ( 14506257 )
2003
10
SPG3A: An additional family carrying a new atlastin mutation. ( 12499504 )
2002

Variations for Spastic Paraplegia 3, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 3, Autosomal Dominant:

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 ATL1 p.Arg217Gln VAR_017146 rs119476049
2 ATL1 p.Arg239Cys VAR_017147 rs119476046
3 ATL1 p.His258Arg VAR_017148 rs119476048
4 ATL1 p.Ser259Tyr VAR_017149 rs119476047
5 ATL1 p.Ala161Pro VAR_019446
6 ATL1 p.His247Pro VAR_019447
7 ATL1 p.Leu157Trp VAR_065509 rs119476051
8 ATL1 p.Met408Val VAR_065511 rs28939094
9 ATL1 p.Arg415Trp VAR_065512 rs119476050
10 ATL1 p.Gln154Glu VAR_067655
11 ATL1 p.Val253Ile VAR_067657 rs864622520
12 ATL1 p.Phe413Val VAR_067658
13 ATL1 p.Asn440Thr VAR_067659
14 ATL1 p.Arg495Trp VAR_067660 rs864622269
15 ATL1 p.Arg415Gln VAR_071708 rs397514712
16 ATL1 p.Arg416Cys VAR_071709 rs387906941
17 ATL1 p.Arg118Gln VAR_071874 rs606231265

ClinVar genetic disease variations for Spastic Paraplegia 3, Autosomal Dominant:

6 (show top 50) (show all 130)
# 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.129C> G (p.Asp43Glu) single nucleotide variant Benign rs17850684 GRCh37 Chromosome 14, 51054643: 51054643
20 ATL1 NM_015915.4(ATL1): c.129C> G (p.Asp43Glu) single nucleotide variant Benign rs17850684 GRCh38 Chromosome 14, 50587925: 50587925
21 ATL1 NM_015915.4(ATL1): c.351G> A (p.Glu117=) single nucleotide variant Benign rs1060197 GRCh37 Chromosome 14, 51057727: 51057727
22 ATL1 NM_015915.4(ATL1): c.351G> A (p.Glu117=) single nucleotide variant Benign rs1060197 GRCh38 Chromosome 14, 50591009: 50591009
23 ATL1 NM_015915.4(ATL1): c.467C> T (p.Thr156Ile) single nucleotide variant Pathogenic rs137852657 GRCh37 Chromosome 14, 51058302: 51058302
24 ATL1 NM_015915.4(ATL1): c.467C> T (p.Thr156Ile) single nucleotide variant Pathogenic rs137852657 GRCh38 Chromosome 14, 50591584: 50591584
25 ATL1 NM_015915.4(ATL1): c.578T> G (p.Phe193Cys) single nucleotide variant Benign rs17850683 GRCh37 Chromosome 14, 51062298: 51062298
26 ATL1 NM_015915.4(ATL1): c.578T> G (p.Phe193Cys) single nucleotide variant Benign rs17850683 GRCh38 Chromosome 14, 50595580: 50595580
27 ATL1 NM_015915.4(ATL1): c.621G> A (p.Lys207=) single nucleotide variant Benign/Likely benign rs35629585 GRCh37 Chromosome 14, 51062341: 51062341
28 ATL1 NM_015915.4(ATL1): c.621G> A (p.Lys207=) single nucleotide variant Benign/Likely benign rs35629585 GRCh38 Chromosome 14, 50595623: 50595623
29 ATL1 NM_015915.4(ATL1): c.84A> G (p.Pro28=) single nucleotide variant Benign rs35014209 GRCh37 Chromosome 14, 51054598: 51054598
30 ATL1 NM_015915.4(ATL1): c.84A> G (p.Pro28=) single nucleotide variant Benign rs35014209 GRCh38 Chromosome 14, 50587880: 50587880
31 ATL1 NM_015915.4(ATL1): c.196G> C (p.Glu66Gln) single nucleotide variant Uncertain significance rs200314808 GRCh37 Chromosome 14, 51054710: 51054710
32 ATL1 NM_015915.4(ATL1): c.196G> C (p.Glu66Gln) single nucleotide variant Uncertain significance rs200314808 GRCh38 Chromosome 14, 50587992: 50587992
33 ATL1 NM_001127713.1(ATL1): c.1246C> T (p.Arg416Cys) single nucleotide variant Pathogenic rs387906941 GRCh37 Chromosome 14, 51094875: 51094875
34 ATL1 NM_001127713.1(ATL1): c.1246C> T (p.Arg416Cys) single nucleotide variant Pathogenic rs387906941 GRCh38 Chromosome 14, 50628157: 50628157
35 ATL1 NM_015915.4(ATL1): c.1244G> A (p.Arg415Gln) single nucleotide variant Likely pathogenic rs397514712 GRCh37 Chromosome 14, 51094873: 51094873
36 ATL1 NM_015915.4(ATL1): c.1244G> A (p.Arg415Gln) single nucleotide variant Likely pathogenic rs397514712 GRCh38 Chromosome 14, 50628155: 50628155
37 ATL1 NM_015915.4(ATL1): c.630+7G> A single nucleotide variant Benign rs3759588 GRCh37 Chromosome 14, 51062357: 51062357
38 ATL1 NM_015915.4(ATL1): c.630+7G> A single nucleotide variant Benign rs3759588 GRCh38 Chromosome 14, 50595639: 50595639
39 ATL1 NM_001127713.1(ATL1): c.596T> A (p.Leu199Gln) single nucleotide variant Pathogenic rs797045004 GRCh38 Chromosome 14, 50595598: 50595598
40 ATL1 NM_001127713.1(ATL1): c.596T> A (p.Leu199Gln) single nucleotide variant Pathogenic rs797045004 GRCh37 Chromosome 14, 51062316: 51062316
41 ATL1 NM_015915.4(ATL1): c.300T> G (p.Val100=) single nucleotide variant Uncertain significance rs863224772 GRCh38 Chromosome 14, 50590958: 50590958
42 ATL1 NM_015915.4(ATL1): c.300T> G (p.Val100=) single nucleotide variant Uncertain significance rs863224772 GRCh37 Chromosome 14, 51057676: 51057676
43 ATL1 NM_015915.4(ATL1): c.1641G> A (p.Ser547=) single nucleotide variant Likely benign rs761099386 GRCh38 Chromosome 14, 50632303: 50632303
44 ATL1 NM_015915.4(ATL1): c.1641G> A (p.Ser547=) single nucleotide variant Likely benign rs761099386 GRCh37 Chromosome 14, 51099021: 51099021
45 ATL1 NM_015915.4(ATL1): c.757G> A (p.Val253Ile) single nucleotide variant Pathogenic/Likely pathogenic rs864622520 GRCh37 Chromosome 14, 51081124: 51081124
46 ATL1 NM_015915.4(ATL1): c.757G> A (p.Val253Ile) single nucleotide variant Pathogenic/Likely pathogenic rs864622520 GRCh38 Chromosome 14, 50614406: 50614406
47 ATL1 NM_015915.4(ATL1): c.1193C> A (p.Ser398Tyr) single nucleotide variant Likely pathogenic rs864622083 GRCh38 Chromosome 14, 50628104: 50628104
48 ATL1 NM_015915.4(ATL1): c.1193C> A (p.Ser398Tyr) single nucleotide variant Likely pathogenic rs864622083 GRCh37 Chromosome 14, 51094822: 51094822
49 ATL1 NM_015915.4(ATL1): c.1483C> T (p.Arg495Trp) single nucleotide variant Pathogenic/Likely pathogenic rs864622269 GRCh37 Chromosome 14, 51095112: 51095112
50 ATL1 NM_015915.4(ATL1): c.1483C> T (p.Arg495Trp) single nucleotide variant Pathogenic/Likely pathogenic rs864622269 GRCh38 Chromosome 14, 50628394: 50628394

Expression for Spastic Paraplegia 3, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 3, Autosomal Dominant.

Pathways for Spastic Paraplegia 3, Autosomal Dominant

GO Terms for Spastic Paraplegia 3, Autosomal Dominant

Cellular components related to Spastic Paraplegia 3, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.55 ATL1 REEP1 RTN2 SPAST ZFYVE27
2 catenin complex GO:0016342 9.26 CDH1 CDH5
3 axon GO:0030424 9.26 ATL1 SPG11 TGFB1 ZFYVE27
4 endoplasmic reticulum tubular network GO:0071782 8.8 ATL1 REEP1 ZFYVE27

Biological processes related to Spastic Paraplegia 3, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 9.54 CDH5 SMAD2 TGFB1
2 epithelial to mesenchymal transition GO:0001837 9.52 SNAI1 TGFB1
3 mesoderm formation GO:0001707 9.51 SMAD2 SNAI1
4 positive regulation of protein import into nucleus GO:0042307 9.49 CDH1 TGFB1
5 endoderm development GO:0007492 9.48 SMAD2 TGFB1
6 cell-cell adhesion mediated by cadherin GO:0044331 9.46 CDH1 CDH5
7 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.43 SMAD2 TGFB1
8 negative regulation of cell-cell adhesion GO:0022408 9.4 CDH1 TGFB1
9 response to cholesterol GO:0070723 9.32 SMAD2 TGFB1
10 SMAD protein complex assembly GO:0007183 9.26 SMAD2 TGFB1
11 common-partner SMAD protein phosphorylation GO:0007182 9.16 SMAD2 TGFB1
12 regulation of binding GO:0051098 8.96 SMAD2 TGFB1
13 positive regulation of epithelial to mesenchymal transition GO:0010718 8.8 SMAD2 SNAI1 TGFB1

Molecular functions related to Spastic Paraplegia 3, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.73 ATL1 CDH1 CDH5 HBA1 REEP1 RTN2
2 type I transforming growth factor beta receptor binding GO:0034713 8.62 SMAD2 TGFB1

Sources for Spastic Paraplegia 3, Autosomal Dominant

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