MCID: SPS012
MIFTS: 32

Spastic Paraplegia 3a

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 3a

MalaCards integrated aliases for Spastic Paraplegia 3a:

Name: Spastic Paraplegia 3a 25 43 6
Spg3a 25 43
Spastic Paraplegia 3, Autosomal Dominant 70
Spastic Paraplegia Type 3a 43
Spastic Paraplegia 3 43
Atl1-Hsp 25

Characteristics:

GeneReviews:

25
Penetrance Overall, penetrance of pathogenic variants is high (~80%-90%) [dürr et al 2004]. in many familial cases, individuals with a heterozygous 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 70 C2931355

Summaries for Spastic Paraplegia 3a

MedlinePlus Genetics : 43 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.In addition to spasticity and weakness, which typically affect both legs equally, people with spastic paraplegia type 3A can also experience progressive muscle wasting (amyotrophy) in the lower limbs, reduced bladder control, an abnormal curvature of the spine (scoliosis), loss of sensation in the feet (peripheral neuropathy), or high arches of the feet (pes cavus). The signs and symptoms of spastic paraplegia type 3A usually appear before the age of 10; the average age of onset is 4 years. In some affected individuals the condition slowly worsens over time, sometimes leading to a need for walking support.

MalaCards based summary : Spastic Paraplegia 3a, also known as spg3a, is related to hereditary sensory and autonomic neuropathy type 1 and hereditary spastic paraplegia, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 3a is ATL1 (Atlastin GTPase 1). Affiliated tissues include spinal cord and cortex.

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory and autonomic neuropathy type 1 29.2 ATL3 ATL2 ATL1
2 hereditary spastic paraplegia 29.0 MAP4K5 ATL3 ATL2 ATL1
3 spastic paraplegia 3, autosomal dominant 11.7
4 neuropathy, hereditary sensory, type id 11.2
5 spastic paraplegia 9a, autosomal dominant 10.9
6 spastic paraplegia 8, autosomal dominant 10.9
7 spastic paraplegia 12, autosomal dominant 10.9
8 spastic paraplegia 30, autosomal dominant 10.9
9 spastic paraplegia 72, autosomal recessive 10.9
10 spastic paraplegia 80, autosomal dominant 10.9
11 paraplegia 10.4
12 axonal neuropathy 10.3
13 spasticity 10.3
14 spastic paraplegia 3 10.2
15 spastic paraplegia 4, autosomal dominant 10.0
16 scoliosis 10.0
17 spastic quadriplegia 10.0
18 pseudobulbar palsy 10.0
19 quadriplegia 10.0
20 cerebral palsy 10.0
21 neuropathy 10.0
22 spastic paraplegia 4 10.0
23 hypertonia 10.0
24 pure or complex hereditary spastic paraplegia 10.0
25 complex hereditary spastic paraplegia 10.0
26 spastic paraplegia 6, autosomal dominant 10.0
27 spastic paraparesis 10.0
28 spastic paraplegia 6 10.0
29 x-linked complicated spastic paraplegia type 1 10.0
30 amyotrophic lateral sclerosis 1 9.8
31 spastic paraplegia 13, autosomal dominant 9.8
32 spastic diplegia 9.8
33 lateral sclerosis 9.8
34 peripheral nervous system disease 9.8
35 stomatitis 9.8
36 spastic paraplegia 13 9.8
37 autosomal dominant pure spastic paraplegia 9.8
38 hereditary sensory neuropathy 9.6 ATL3 ATL1

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31 Terminated 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:

40
Spinal Cord, Cortex

Publications for Spastic Paraplegia 3a

Articles related to Spastic Paraplegia 3a:

(show top 50) (show all 140)
# Title Authors PMID Year
1
Characterization of a novel SPG3A deletion in a French-Canadian family. 61 25 6
17427918 2007
2
Hereditary spastic paraplegia 3A associated with axonal neuropathy. 61 6 25
17502470 2007
3
SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. 25 6 61
16537571 2006
4
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. 25 6 61
16533974 2006
5
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. 61 6 25
15742100 2005
6
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. 61 25 6
15596607 2004
7
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. 6 25 61
15517445 2004
8
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. 6 25 61
15184642 2004
9
SPG3A: An additional family carrying a new atlastin mutation. 61 6 25
12499504 2002
10
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. 6 25 61
11685207 2001
11
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. 25 6
26888483 2016
12
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 25
23483706 2013
13
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. 6 61
29980238 2018
14
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 6 61
26208798 2015
15
De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling. 61 6
25637064 2015
16
ER network formation and membrane fusion by atlastin1/SPG3A disease variants. 61 6
25761634 2015
17
Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia. 61 6
25454648 2014
18
Atlastin-1 regulates dendritic morphogenesis in mouse cerebral cortex. 6 61
23999326 2013
19
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. 6 61
23233086 2013
20
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia. 6 61
22581552 2012
21
Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation. 6 61
21336785 2011
22
Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A. 61 6
21220294 2011
23
The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. 61 6
20816793 2011
24
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. 6 61
20932283 2010
25
Spastic Paraplegia 3A 61 6
20862796 2010
26
Complex phenotype in an Italian family with a novel mutation in SPG3A. 6 61
19768483 2010
27
Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3. 6 61
20947813 2010
28
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. 61 6
19423133 2009
29
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. 6 61
19652243 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. 61 6
19459885 2009
31
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. 6 61
17321752 2007
32
[SPG3A-hereditary spastin paraplegia with genetic anticipation and incomplete penetrance]. 61 6
17285536 2007
33
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. 6 61
16612642 2006
34
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. 61 6
16401858 2006
35
Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. 6 61
15477516 2004
36
SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. 61 6
14607301 2003
37
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. 61 6
12112092 2002
38
Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study. 61 25
30508408 2021
39
Three novel mutations in 20 patients with hereditary spastic paraparesis. 6
29907907 2018
40
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
41
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
42
Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 6
24604904 2014
43
'When atlastin meets spastin'. 6
24417445 2014
44
Extremely severe complicated spastic paraplegia 3A with neonatal onset. 25 61
25193411 2014
45
Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia. 25 61
24969372 2014
46
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation. 25 61
24473461 2014
47
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. 6
24451228 2014
48
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. 61 25
24603320 2014
49
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6
24482476 2014
50
Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals. 25 61
22203332 2013

Variations for Spastic Paraplegia 3a

ClinVar genetic disease variations for Spastic Paraplegia 3a:

6 (show top 50) (show all 160)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATL1 NM_001127713.1(ATL1):c.776C>A (p.Ser259Tyr) SNV Pathogenic 4347 rs119476047 GRCh37: 14:51081143-51081143
GRCh38: 14:50614425-50614425
2 ATL1 NM_001127713.1(ATL1):c.773A>G (p.His258Arg) SNV Pathogenic 4348 rs119476048 GRCh37: 14:51081140-51081140
GRCh38: 14:50614422-50614422
3 ATL1 NM_001127713.1(ATL1):c.650G>A (p.Arg217Gln) SNV Pathogenic 4349 rs119476049 GRCh37: 14:51079996-51079996
GRCh38: 14:50613278-50613278
4 ATL1 ATL1, 1-BP INS, 1688A Insertion Pathogenic 4350 GRCh37:
GRCh38:
5 ATL1 NM_001127713.1(ATL1):c.470T>G (p.Leu157Trp) SNV Pathogenic 4353 rs119476051 GRCh37: 14:51058305-51058305
GRCh38: 14:50591587-50591587
6 ATL1 NM_001127713.1(ATL1):c.1306_1308del (p.Asn436del) Deletion Pathogenic 4354 rs1595625206 GRCh37: 14:51094935-51094937
GRCh38: 14:50628217-50628219
7 ATL1 NM_001127713.1(ATL1):c.467C>T (p.Thr156Ile) SNV Pathogenic 21531 rs137852657 GRCh37: 14:51058302-51058302
GRCh38: 14:50591584-50591584
8 ATL1 NM_001127713.1(ATL1):c.1246C>T (p.Arg416Cys) SNV Pathogenic 30582 rs387906941 GRCh37: 14:51094875-51094875
GRCh38: 14:50628157-50628157
9 ATL1 NM_015915.5(ATL1):c.596T>A (p.Leu199Gln) SNV Pathogenic 208489 rs797045004 GRCh37: 14:51062316-51062316
GRCh38: 14:50595598-50595598
10 ATL1 NM_001127713.1(ATL1):c.572A>G (p.Gln191Arg) SNV Pathogenic 576063 rs1566725003 GRCh37: 14:51060613-51060613
GRCh38: 14:50593895-50593895
11 ATL1 NM_001127713.1(ATL1):c.1048G>A (p.Ala350Thr) SNV Pathogenic 654142 rs1595621292 GRCh37: 14:51089895-51089895
GRCh38: 14:50623177-50623177
12 ATL1 NM_015915.5(ATL1):c.488T>C (p.Val163Ala) SNV Pathogenic 803025 rs1595600383 GRCh37: 14:51058323-51058323
GRCh38: 14:50591605-50591605
13 ATL1 NM_015915.5(ATL1):c.1223T>C (p.Met408Thr) SNV Pathogenic 803026 rs1595625113 GRCh37: 14:51094852-51094852
GRCh38: 14:50628134-50628134
14 ATL1 NC_000014.9:g.(?_50560256)_(50632349_?)del Deletion Pathogenic 831440 GRCh37: 14:51026974-51099067
GRCh38:
15 ATL1 NM_015915.5(ATL1):c.776C>T (p.Ser259Phe) SNV Pathogenic 949900 GRCh37: 14:51081143-51081143
GRCh38: 14:50614425-50614425
16 ATL1 NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter) SNV Pathogenic 982034 GRCh37: 14:51095101-51095101
GRCh38: 14:50628383-50628383
17 ATL1 NM_001127713.1(ATL1):c.1483C>T (p.Arg495Trp) SNV Pathogenic 219827 rs864622269 GRCh37: 14:51095112-51095112
GRCh38: 14:50628394-50628394
18 ATL1 NM_001127713.1(ATL1):c.781_782insA (p.Phe261fs) Insertion Pathogenic 503888 rs1181733510 GRCh37: 14:51081148-51081149
GRCh38: 14:50614430-50614431
19 ATL1 NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) SNV Pathogenic 4346 rs119476046 GRCh37: 14:51080061-51080061
GRCh38: 14:50613343-50613343
20 ATL1 NM_001127713.1(ATL1):c.1243C>T (p.Arg415Trp) SNV Pathogenic 4352 rs119476050 GRCh37: 14:51094872-51094872
GRCh38: 14:50628154-50628154
21 ATL1 NM_001127713.1(ATL1):c.757G>A (p.Val253Ile) SNV Pathogenic 220424 rs864622520 GRCh37: 14:51081124-51081124
GRCh38: 14:50614406-50614406
22 ATL1 NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) SNV Pathogenic 4346 rs119476046 GRCh37: 14:51080061-51080061
GRCh38: 14:50613343-50613343
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 NM_015915.5(ATL1):c.1216A>G (p.Lys406Glu) SNV Likely pathogenic 827813 rs1595625104 GRCh37: 14:51094845-51094845
GRCh38: 14:50628127-50628127
26 ATL1 NM_015915.5(ATL1):c.716G>T (p.Arg239Leu) SNV Likely pathogenic 859493 GRCh37: 14:51080062-51080062
GRCh38: 14:50613344-50613344
27 ATL1 NM_015915.5(ATL1):c.1511del (p.Gly504fs) Deletion Likely pathogenic 623150 rs1566735903 GRCh37: 14:51095138-51095138
GRCh38: 14:50628420-50628420
28 ATL1 NM_001127713.1(ATL1):c.1068T>A (p.Asn356Lys) SNV Likely pathogenic 640724 rs1595621335 GRCh37: 14:51089915-51089915
GRCh38: 14:50623197-50623197
29 ATL1 NM_001127713.1(ATL1):c.536C>A (p.Ser179Tyr) SNV Likely pathogenic 538581 rs1555364149 GRCh37: 14:51060577-51060577
GRCh38: 14:50593859-50593859
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.1222A>G (p.Met408Val) SNV Likely pathogenic 4351 rs28939094 GRCh37: 14:51094851-51094851
GRCh38: 14:50628133-50628133
32 ATL1 NM_001127713.1(ATL1):c.594A>C (p.Arg198Ser) SNV Likely pathogenic 471250 rs1555364247 GRCh37: 14:51062314-51062314
GRCh38: 14:50595596-50595596
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.1217_1219AGA[1] (p.Lys407del) Microsatellite Likely pathogenic 807547 rs1595625099 GRCh37: 14:51094844-51094846
GRCh38: 14:50628126-50628128
35 ATL1 NM_015915.5(ATL1):c.1119G>A (p.Glu373=) SNV Likely pathogenic 951549 GRCh37: 14:51089966-51089966
GRCh38: 14:50623248-50623248
36 ATL1 NC_000014.9:g.(?_50590931)_(50632349_?)del Deletion Likely pathogenic 832644 GRCh37: 14:51057649-51099067
GRCh38:
37 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
38 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
39 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
40 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
41 ATL1 NM_001127713.1(ATL1):c.1502G>C (p.Arg501Pro) SNV Uncertain significance 665259 rs374795927 GRCh37: 14:51095131-51095131
GRCh38: 14:50628413-50628413
42 ATL1 NM_015915.5(ATL1):c.293A>G (p.Asp98Gly) SNV Uncertain significance 862250 GRCh37: 14:51057669-51057669
GRCh38: 14:50590951-50590951
43 ATL1 NM_015915.5(ATL1):c.*327A>G SNV Uncertain significance 881033 GRCh37: 14:51099384-51099384
GRCh38: 14:50632666-50632666
44 ATL1 NM_015915.5(ATL1):c.*335C>T SNV Uncertain significance 881034 GRCh37: 14:51099392-51099392
GRCh38: 14:50632674-50632674
45 ATL1 NM_015915.5(ATL1):c.*371T>A SNV Uncertain significance 881035 GRCh37: 14:51099428-51099428
GRCh38: 14:50632710-50632710
46 ATL1 NM_015915.5(ATL1):c.*464C>T SNV Uncertain significance 881036 GRCh37: 14:51099521-51099521
GRCh38: 14:50632803-50632803
47 ATL1 NM_015915.5(ATL1):c.1120-15C>T SNV Uncertain significance 882602 GRCh37: 14:51094734-51094734
GRCh38: 14:50628016-50628016
48 ATL1 NM_001127713.1(ATL1):c.1379T>A (p.Val460Glu) SNV Uncertain significance 471247 rs1555365871 GRCh37: 14:51095008-51095008
GRCh38: 14:50628290-50628290
49 ATL1 NM_001127713.1(ATL1):c.1189G>C (p.Glu397Gln) SNV Uncertain significance 538576 rs148203226 GRCh37: 14:51094818-51094818
GRCh38: 14:50628100-50628100
50 ATL1 NM_001127713.1(ATL1):c.1206C>A (p.Phe402Leu) SNV Uncertain significance 560958 rs1566735714 GRCh37: 14:51094835-51094835
GRCh38: 14:50628117-50628117

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 ATL3 ATL2 ATL1
2 endoplasmic reticulum membrane GO:0005789 9.33 ATL3 ATL2 ATL1
3 endoplasmic reticulum tubular network GO:0071782 8.96 ATL3 ATL1
4 endoplasmic reticulum tubular network membrane GO:0098826 8.8 ATL3 ATL2 ATL1

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 ATL3 ATL2 ATL1
2 ER to Golgi vesicle-mediated transport GO:0006888 9.32 ATL3 ATL2
3 Golgi organization GO:0007030 9.26 ATL3 ATL2
4 endoplasmic reticulum tubular network membrane organization GO:1990809 8.96 ATL2 ATL1
5 endoplasmic reticulum organization GO:0007029 8.8 ATL3 ATL2 ATL1

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 9.5 ATL3 ATL2 ATL1
2 nucleotide binding GO:0000166 9.46 MAP4K5 ATL3 ATL2 ATL1
3 identical protein binding GO:0042802 9.43 ATL3 ATL2 ATL1
4 GTP binding GO:0005525 9.13 ATL3 ATL2 ATL1
5 GTPase activity GO:0003924 8.8 ATL3 ATL2 ATL1

Sources for Spastic Paraplegia 3a

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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