SPG78
MCID: SPS203
MIFTS: 32

Spastic Paraplegia 78, Autosomal Recessive (SPG78)

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 78, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 78, Autosomal Recessive:

Name: Spastic Paraplegia 78, Autosomal Recessive 57 72 29 6
Spg78 57 58 72
Autosomal Recessive Spastic Paraplegia Type 78 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
mean age at onset 32 years
variable neurologic phenotype
earlier onset has been reported in 1 patient


HPO:

31
spastic paraplegia 78, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 78, Autosomal Recessive

OMIM® : 57 Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by Estrada-Cuzcano et al., 2017). Biallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS; 606693), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017). (617225) (Updated 05-Apr-2021)

MalaCards based summary : Spastic Paraplegia 78, Autosomal Recessive, also known as spg78, is related to kufor-rakeb syndrome and parkinsonism. An important gene associated with Spastic Paraplegia 78, Autosomal Recessive is ATP13A2 (ATPase Cation Transporting 13A2). Affiliated tissues include skeletal muscle, and related phenotypes are hyperreflexia and dysarthria

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 78, autosomal recessive: 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 78, Autosomal Recessive

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 78, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kufor-rakeb syndrome 11.1
2 parkinsonism 9.9
3 neuronal ceroid lipofuscinosis 9.9
4 hereditary spastic paraplegia 9.9
5 paraplegia 9.9
6 spastic paraparesis 9.9
7 spasticity 9.9
8 tremor 9.9

Graphical network of the top 20 diseases related to Spastic Paraplegia 78, Autosomal Recessive:



Diseases related to Spastic Paraplegia 78, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 78, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 78, Autosomal Recessive:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
3 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
4 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
5 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
6 cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001272
7 progressive gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007240
8 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
9 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
10 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
11 emg: axonal abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003482
12 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
13 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
14 progressive spastic quadriplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002478
15 abnormality of the periventricular white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002518
16 horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000666
17 neurogenic bladder 58 31 frequent (33%) Frequent (79-30%) HP:0000011
18 supranuclear gaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0000605
19 sensory axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003390
20 progressive pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0008075
21 dementia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000726
22 pes cavus 31 occasional (7.5%) HP:0001761
23 parkinsonism 31 occasional (7.5%) HP:0001300
24 hallucinations 58 31 very rare (1%) Very rare (<4-1%) HP:0000738
25 progressive extrapyramidal movement disorder 58 31 very rare (1%) Very rare (<4-1%) HP:0007153
26 facial myokymia 58 31 very rare (1%) Very rare (<4-1%) HP:0000317
27 abnormal pyramidal sign 58 Frequent (79-30%)
28 nystagmus 31 HP:0000639
29 ataxia 31 HP:0001251
30 gait disturbance 31 HP:0001288
31 cognitive impairment 58 Very frequent (99-80%)
32 spastic tetraplegia 31 HP:0002510
33 skeletal muscle atrophy 58 Excluded (0%)
34 spastic paraplegia 31 HP:0001258
35 aggressive behavior 31 HP:0000718
36 distal sensory impairment 31 HP:0002936
37 peripheral axonal neuropathy 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
ataxia
dysarthria
spastic paraplegia
cerebellar atrophy
more
Neurologic Behavioral Psychiatric Manifestations:
hallucinations
aggression

Genitourinary Bladder:
urinary urgency
urinary urge incontinence

Head And Neck Eyes:
nystagmus
supranuclear gaze palsy

Neurologic Peripheral Nervous System:
distal sensory impairment
axonal sensorimotor peripheral neuropathy

Skeletal Feet:
pes cavus (in some patients)

Clinical features from OMIM®:

617225 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spastic Paraplegia 78, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 78, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 78, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 78, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 78, Autosomal Recessive 29 ATP13A2

Anatomical Context for Spastic Paraplegia 78, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 78, Autosomal Recessive:

40
Skeletal Muscle

Publications for Spastic Paraplegia 78, Autosomal Recessive

Articles related to Spastic Paraplegia 78, Autosomal Recessive:

# Title Authors PMID Year
1
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). 61 57 6
28137957 2017
2
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 6 57
27217339 2016
3
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). 6
21696388 2012
4
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. 6
22296644 2012
5
Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity. 6
22442086 2012
6
Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death. 6
21665991 2011
7
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. 6
16964263 2006
8
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia. 61
33134512 2020
9
From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations. 61
31151786 2019

Variations for Spastic Paraplegia 78, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 78, Autosomal Recessive:

6 (show top 50) (show all 187)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP13A2 NM_022089.4(ATP13A2):c.1550C>T (p.Thr517Ile) SNV Pathogenic 374888 rs1057519291 GRCh37: 1:17320323-17320323
GRCh38: 1:16993828-16993828
2 ATP13A2 NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) SNV Pathogenic 374886 rs1057519289 GRCh37: 1:17312841-17312841
GRCh38: 1:16986346-16986346
3 ATP13A2 NM_022089.4(ATP13A2):c.364C>T (p.Gln122Ter) SNV Pathogenic 374889 rs1057519292 GRCh37: 1:17331300-17331300
GRCh38: 1:17004805-17004805
4 ATP13A2 NM_022089.4(ATP13A2):c.1345C>T (p.Arg449Ter) SNV Pathogenic 374890 rs1057519293 GRCh37: 1:17322757-17322757
GRCh38: 1:16996262-16996262
5 ATP13A2 NM_022089.4(ATP13A2):c.3149_3151TCT[1] (p.Phe1051del) Microsatellite Pathogenic 374887 rs1057519290 GRCh37: 1:17313381-17313383
GRCh38: 1:16986886-16986888
6 ATP13A2 NC_000001.11:g.(?_16991714)_(16992601_?)del Deletion Pathogenic 660676 GRCh37: 1:17318209-17319096
GRCh38: 1:16991714-16992601
7 ATP13A2 NM_022089.4(ATP13A2):c.3153_3154CT[2] (p.Leu1053fs) Microsatellite Pathogenic 660925 rs1570759415 GRCh37: 1:17313377-17313378
GRCh38: 1:16986882-16986883
8 ATP13A2 NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) SNV Pathogenic 982648 GRCh37: 1:17320216-17320216
GRCh38: 1:16993721-16993721
9 ATP13A2 NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) Deletion Pathogenic 465253 rs765632065 GRCh37: 1:17313567-17313567
GRCh38: 1:16987072-16987072
10 ATP13A2 NM_022089.4(ATP13A2):c.409del (p.Val137fs) Deletion Pathogenic 859962 GRCh37: 1:17331255-17331255
GRCh38: 1:17004760-17004760
11 ATP13A2 NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) SNV Pathogenic 465252 rs773246271 GRCh37: 1:17318840-17318840
GRCh38: 1:16992345-16992345
12 ATP13A2 NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) SNV Pathogenic 465252 rs773246271 GRCh37: 1:17318840-17318840
GRCh38: 1:16992345-16992345
13 ATP13A2 NM_022089.4(ATP13A2):c.3151_3152del (p.Phe1051fs) Deletion Likely pathogenic 1031329 GRCh37: 1:17313383-17313384
GRCh38: 1:16986888-16986889
14 ATP13A2 NC_000001.11:g.16991849_16991850CA[1] Microsatellite Likely pathogenic 873463 GRCh37: 1:17318344-17318345
GRCh38: 1:16991849-16991850
15 ATP13A2 NM_022089.4(ATP13A2):c.558-1G>T SNV Likely pathogenic 873473 GRCh37: 1:17328869-17328869
GRCh38: 1:17002374-17002374
16 ATP13A2 NM_022089.4(ATP13A2):c.1845+1G>A SNV Likely pathogenic 854703 GRCh37: 1:17318980-17318980
GRCh38: 1:16992485-16992485
17 ATP13A2 NM_022089.4(ATP13A2):c.477+2T>G SNV Likely pathogenic 546591 rs758014228 GRCh37: 1:17331185-17331185
GRCh38: 1:17004690-17004690
18 ATP13A2 NM_022089.4(ATP13A2):c.3405+9C>T SNV Conflicting interpretations of pathogenicity 626062 rs374766933 GRCh37: 1:17312949-17312949
GRCh38: 1:16986454-16986454
19 ATP13A2 NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) SNV Conflicting interpretations of pathogenicity 568939 rs201756175 GRCh37: 1:17313049-17313049
GRCh38: 1:16986554-16986554
20 ATP13A2 NM_022089.4(ATP13A2):c.769T>C (p.Tyr257His) SNV Uncertain significance 572420 rs370403918 GRCh37: 1:17326966-17326966
GRCh38: 1:17000471-17000471
21 ATP13A2 NM_022089.4(ATP13A2):c.2557C>G (p.Arg853Gly) SNV Uncertain significance 576357 rs772243999 GRCh37: 1:17316238-17316238
GRCh38: 1:16989743-16989743
22 ATP13A2 NM_022089.4(ATP13A2):c.811A>G (p.Ile271Val) SNV Uncertain significance 577023 rs561097876 GRCh37: 1:17326924-17326924
GRCh38: 1:17000429-17000429
23 ATP13A2 NM_022089.4(ATP13A2):c.385C>T (p.Arg129Trp) SNV Uncertain significance 579095 rs1318096890 GRCh37: 1:17331279-17331279
GRCh38: 1:17004784-17004784
24 ATP13A2 NM_022089.4(ATP13A2):c.574C>T (p.Arg192Cys) SNV Uncertain significance 579676 rs372857244 GRCh37: 1:17328852-17328852
GRCh38: 1:17002357-17002357
25 ATP13A2 NM_022089.4(ATP13A2):c.656A>G (p.Asn219Ser) SNV Uncertain significance 582385 rs776406555 GRCh37: 1:17328578-17328578
GRCh38: 1:17002083-17002083
26 ATP13A2 NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg) SNV Uncertain significance 583076 rs1557729552 GRCh37: 1:17338232-17338232
GRCh38: 1:17011737-17011737
27 ATP13A2 NM_022089.4(ATP13A2):c.1542+3G>A SNV Uncertain significance 625889 rs747456787 GRCh37: 1:17322468-17322468
GRCh38: 1:16995973-16995973
28 ATP13A2 NM_022089.4(ATP13A2):c.1895C>T (p.Ser632Leu) SNV Uncertain significance 533804 rs376070950 GRCh37: 1:17318848-17318848
GRCh38: 1:16992353-16992353
29 ATP13A2 NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser) SNV Uncertain significance 533805 rs1553164387 GRCh37: 1:17312783-17312783
GRCh38: 1:16986288-16986288
30 ATP13A2 NM_022089.4(ATP13A2):c.2899G>C (p.Asp967His) SNV Uncertain significance 533807 rs772870846 GRCh37: 1:17313725-17313725
GRCh38: 1:16987230-16987230
31 ATP13A2 NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) SNV Uncertain significance 533808 rs199661793 GRCh37: 1:17326990-17326990
GRCh38: 1:17000495-17000495
32 ATP13A2 NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val) SNV Uncertain significance 566479 rs139909551 GRCh37: 1:17316774-17316774
GRCh38: 1:16990279-16990279
33 ATP13A2 NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) SNV Uncertain significance 566669 rs145548316 GRCh37: 1:17313652-17313652
GRCh38: 1:16987157-16987157
34 ATP13A2 NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr) SNV Uncertain significance 567424 rs772414750 GRCh37: 1:17326770-17326770
GRCh38: 1:17000275-17000275
35 ATP13A2 NM_022089.4(ATP13A2):c.3409G>A (p.Val1137Met) SNV Uncertain significance 567500 rs528943677 GRCh37: 1:17312850-17312850
GRCh38: 1:16986355-16986355
36 ATP13A2 NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) SNV Uncertain significance 293771 rs377431904 GRCh37: 1:17313342-17313342
GRCh38: 1:16986847-16986847
37 ATP13A2 NM_022089.4(ATP13A2):c.3084-10G>T SNV Uncertain significance 465261 rs368908107 GRCh37: 1:17313461-17313461
GRCh38: 1:16986966-16986966
38 ATP13A2 NM_022089.4(ATP13A2):c.508G>A (p.Gly170Ser) SNV Uncertain significance 465264 rs762075619 GRCh37: 1:17330876-17330876
GRCh38: 1:17004381-17004381
39 ATP13A2 NM_022089.4(ATP13A2):c.1831C>A (p.Gln611Lys) SNV Uncertain significance 465256 rs770682887 GRCh37: 1:17318995-17318995
GRCh38: 1:16992500-16992500
40 ATP13A2 NM_022089.4(ATP13A2):c.1545G>A (p.Thr515=) SNV Uncertain significance 465255 rs373005131 GRCh37: 1:17320328-17320328
GRCh38: 1:16993833-16993833
41 ATP13A2 NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) SNV Uncertain significance 465257 rs147277743 GRCh37: 1:17318244-17318244
GRCh38: 1:16991749-16991749
42 ATP13A2 NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe) SNV Uncertain significance 465262 rs764410859 GRCh37: 1:17313360-17313360
GRCh38: 1:16986865-16986865
43 ATP13A2 NM_022089.4(ATP13A2):c.2412G>A (p.Lys804=) SNV Uncertain significance 465260 rs978493820 GRCh37: 1:17316622-17316622
GRCh38: 1:16990127-16990127
44 ATP13A2 NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) SNV Uncertain significance 128469 rs55708915 GRCh37: 1:17314656-17314656
GRCh38: 1:16988161-16988161
45 ATP13A2 NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser) SNV Uncertain significance 533802 rs752487771 GRCh37: 1:17316630-17316630
GRCh38: 1:16990135-16990135
46 ATP13A2 NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) SNV Uncertain significance 626063 rs768674400 GRCh37: 1:17314833-17314833
GRCh38: 1:16988338-16988338
47 ATP13A2 NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) SNV Uncertain significance 626064 rs567287489 GRCh37: 1:17314939-17314939
GRCh38: 1:16988444-16988444
48 ATP13A2 NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) SNV Uncertain significance 128469 rs55708915 GRCh37: 1:17314656-17314656
GRCh38: 1:16988161-16988161
49 ATP13A2 NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile) SNV Uncertain significance 641968 rs1033088325 GRCh37: 1:17323607-17323607
GRCh38: 1:16997112-16997112
50 ATP13A2 NM_022089.4(ATP13A2):c.1126T>C (p.Cys376Arg) SNV Uncertain significance 642320 rs1570833382 GRCh37: 1:17323584-17323584
GRCh38: 1:16997089-16997089

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 78, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 ATP13A2 p.Thr517Ile VAR_078055 rs105751929

Expression for Spastic Paraplegia 78, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 78, Autosomal Recessive.

Pathways for Spastic Paraplegia 78, Autosomal Recessive

GO Terms for Spastic Paraplegia 78, Autosomal Recessive

Sources for Spastic Paraplegia 78, Autosomal Recessive

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