MCID: SPS203
MIFTS: 26

Spastic Paraplegia 78, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic 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 75 29 6
Spg78 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spastic paraplegia 78, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Spastic Paraplegia 78, Autosomal Recessive, also known as spg78, is related to kufor-rakeb syndrome and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 78, Autosomal Recessive is ATP13A2 (ATPase Cation Transporting 13A2). Affiliated tissues include brain, and related phenotypes are supranuclear gaze palsy and nystagmus

UniProtKB/Swiss-Prot : 75 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 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67

Diseases related to Spastic Paraplegia 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 hereditary spastic paraplegia 9.9
3 paraplegia 9.9
4 spasticity 9.9

Symptoms & Phenotypes for Spastic Paraplegia 78, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
supranuclear gaze palsy

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
aggression

Skeletal Feet:
pes cavus (in some patients)

Neurologic Central Nervous System:
ataxia
dysarthria
hyperreflexia
spastic paraplegia
cerebellar atrophy
more
Neurologic Peripheral Nervous System:
distal sensory impairment
axonal sensorimotor peripheral neuropathy

Genitourinary Bladder:
urge incontinence


Clinical features from OMIM:

617225

Human phenotypes related to Spastic Paraplegia 78, Autosomal Recessive:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 supranuclear gaze palsy 32 HP:0000605
2 nystagmus 32 HP:0000639
3 aggressive behavior 32 HP:0000718
4 dementia 32 occasional (7.5%) HP:0000726
5 hallucinations 32 HP:0000738
6 ataxia 32 HP:0001251
7 spastic paraplegia 32 HP:0001258
8 dysarthria 32 HP:0001260
9 cerebellar atrophy 32 HP:0001272
10 gait disturbance 32 HP:0001288
11 parkinsonism 32 occasional (7.5%) HP:0001300
12 hyperreflexia 32 HP:0001347
13 pes cavus 32 occasional (7.5%) HP:0001761
14 cerebral cortical atrophy 32 HP:0002120
15 spastic tetraplegia 32 HP:0002510
16 distal sensory impairment 32 HP:0002936
17 babinski sign 32 HP:0003487

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:

41
Brain

Publications for Spastic Paraplegia 78, Autosomal Recessive

Variations for Spastic Paraplegia 78, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 ATP13A2 p.Thr517Ile VAR_078055 rs1057519291Spastic

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

6
(show top 50) (show all 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP13A2 NM_022089.3(ATP13A2): c.1195+10G> A single nucleotide variant Benign/Likely benign rs55689004 GRCh37 Chromosome 1, 17323505: 17323505
2 ATP13A2 NM_022089.3(ATP13A2): c.1195+10G> A single nucleotide variant Benign/Likely benign rs55689004 GRCh38 Chromosome 1, 16997010: 16997010
3 ATP13A2 NM_022089.3(ATP13A2): c.1614C> T (p.Pro538=) single nucleotide variant Benign rs56351817 GRCh38 Chromosome 1, 16993764: 16993764
4 ATP13A2 NM_022089.3(ATP13A2): c.1614C> T (p.Pro538=) single nucleotide variant Benign rs56351817 GRCh37 Chromosome 1, 17320259: 17320259
5 ATP13A2 NM_022089.3(ATP13A2): c.132A> G (p.Pro44=) single nucleotide variant Benign/Likely benign rs200816691 GRCh38 Chromosome 1, 17005530: 17005530
6 ATP13A2 NM_022089.3(ATP13A2): c.132A> G (p.Pro44=) single nucleotide variant Benign/Likely benign rs200816691 GRCh37 Chromosome 1, 17332025: 17332025
7 ATP13A2 NM_022089.3(ATP13A2): c.1309C> G (p.Leu437Val) single nucleotide variant Uncertain significance rs149372969 GRCh37 Chromosome 1, 17322793: 17322793
8 ATP13A2 NM_022089.3(ATP13A2): c.1309C> G (p.Leu437Val) single nucleotide variant Uncertain significance rs149372969 GRCh38 Chromosome 1, 16996298: 16996298
9 ATP13A2 NM_022089.3(ATP13A2): c.3297C> T (p.Pro1099=) single nucleotide variant Conflicting interpretations of pathogenicity rs756650754 GRCh38 Chromosome 1, 16986571: 16986571
10 ATP13A2 NM_022089.3(ATP13A2): c.3297C> T (p.Pro1099=) single nucleotide variant Conflicting interpretations of pathogenicity rs756650754 GRCh37 Chromosome 1, 17313066: 17313066
11 ATP13A2 NM_022089.3(ATP13A2): c.3193G> A (p.Val1065Met) single nucleotide variant Uncertain significance rs377431904 GRCh38 Chromosome 1, 16986847: 16986847
12 ATP13A2 NM_022089.3(ATP13A2): c.3193G> A (p.Val1065Met) single nucleotide variant Uncertain significance rs377431904 GRCh37 Chromosome 1, 17313342: 17313342
13 ATP13A2 NM_022089.3(ATP13A2): c.1203C> T (p.Cys401=) single nucleotide variant Conflicting interpretations of pathogenicity rs148026506 GRCh37 Chromosome 1, 17322984: 17322984
14 ATP13A2 NM_022089.3(ATP13A2): c.1203C> T (p.Cys401=) single nucleotide variant Conflicting interpretations of pathogenicity rs148026506 GRCh38 Chromosome 1, 16996489: 16996489
15 ATP13A2 NM_022089.3(ATP13A2): c.2619G> C (p.Val873=) single nucleotide variant Conflicting interpretations of pathogenicity rs199994961 GRCh38 Chromosome 1, 16988465: 16988465
16 ATP13A2 NM_022089.3(ATP13A2): c.2619G> C (p.Val873=) single nucleotide variant Conflicting interpretations of pathogenicity rs199994961 GRCh37 Chromosome 1, 17314960: 17314960
17 ATP13A2 NM_022089.3(ATP13A2): c.1195+9C> T single nucleotide variant Benign/Likely benign rs117758987 GRCh37 Chromosome 1, 17323506: 17323506
18 ATP13A2 NM_022089.3(ATP13A2): c.1195+9C> T single nucleotide variant Benign/Likely benign rs117758987 GRCh38 Chromosome 1, 16997011: 16997011
19 ATP13A2 NM_022089.3(ATP13A2): c.1128C> T (p.Cys376=) single nucleotide variant Conflicting interpretations of pathogenicity rs148970081 GRCh38 Chromosome 1, 16997087: 16997087
20 ATP13A2 NM_022089.3(ATP13A2): c.1128C> T (p.Cys376=) single nucleotide variant Conflicting interpretations of pathogenicity rs148970081 GRCh37 Chromosome 1, 17323582: 17323582
21 ATP13A2 NM_022089.3(ATP13A2): c.3418C> T (p.Gln1140Ter) single nucleotide variant Pathogenic rs1057519289 GRCh37 Chromosome 1, 17312841: 17312841
22 ATP13A2 NM_022089.3(ATP13A2): c.3418C> T (p.Gln1140Ter) single nucleotide variant Pathogenic rs1057519289 GRCh38 Chromosome 1, 16986346: 16986346
23 ATP13A2 NM_022089.3(ATP13A2): c.3152_3154delTCT (p.Phe1051del) deletion Pathogenic rs1057519290 GRCh37 Chromosome 1, 17313381: 17313383
24 ATP13A2 NM_022089.3(ATP13A2): c.3152_3154delTCT (p.Phe1051del) deletion Pathogenic rs1057519290 GRCh38 Chromosome 1, 16986886: 16986888
25 ATP13A2 NM_022089.3(ATP13A2): c.1550C> T (p.Thr517Ile) single nucleotide variant Pathogenic rs1057519291 GRCh38 Chromosome 1, 16993828: 16993828
26 ATP13A2 NM_022089.3(ATP13A2): c.1550C> T (p.Thr517Ile) single nucleotide variant Pathogenic rs1057519291 GRCh37 Chromosome 1, 17320323: 17320323
27 ATP13A2 NM_022089.3(ATP13A2): c.364C> T (p.Gln122Ter) single nucleotide variant Pathogenic rs1057519292 GRCh38 Chromosome 1, 17004805: 17004805
28 ATP13A2 NM_022089.3(ATP13A2): c.364C> T (p.Gln122Ter) single nucleotide variant Pathogenic rs1057519292 GRCh37 Chromosome 1, 17331300: 17331300
29 ATP13A2 NM_022089.3(ATP13A2): c.1345C> T (p.Arg449Ter) single nucleotide variant Pathogenic rs1057519293 GRCh38 Chromosome 1, 16996262: 16996262
30 ATP13A2 NM_022089.3(ATP13A2): c.1345C> T (p.Arg449Ter) single nucleotide variant Pathogenic rs1057519293 GRCh37 Chromosome 1, 17322757: 17322757
31 ATP13A2 NM_022089.3(ATP13A2): c.3175C> T (p.Leu1059Phe) single nucleotide variant Uncertain significance rs764410859 GRCh37 Chromosome 1, 17313360: 17313360
32 ATP13A2 NM_022089.3(ATP13A2): c.3175C> T (p.Leu1059Phe) single nucleotide variant Uncertain significance rs764410859 GRCh38 Chromosome 1, 16986865: 16986865
33 ATP13A2 NM_022089.3(ATP13A2): c.3084-10G> T single nucleotide variant Uncertain significance rs368908107 GRCh37 Chromosome 1, 17313461: 17313461
34 ATP13A2 NM_022089.3(ATP13A2): c.3084-10G> T single nucleotide variant Uncertain significance rs368908107 GRCh38 Chromosome 1, 16986966: 16986966
35 ATP13A2 NM_022089.3(ATP13A2): c.2236G> A (p.Ala746Thr) single nucleotide variant Uncertain significance rs147277743 GRCh37 Chromosome 1, 17318244: 17318244
36 ATP13A2 NM_022089.3(ATP13A2): c.2236G> A (p.Ala746Thr) single nucleotide variant Uncertain significance rs147277743 GRCh38 Chromosome 1, 16991749: 16991749
37 ATP13A2 NM_022089.3(ATP13A2): c.1545G> A (p.Thr515=) single nucleotide variant Uncertain significance rs373005131 GRCh37 Chromosome 1, 17320328: 17320328
38 ATP13A2 NM_022089.3(ATP13A2): c.1545G> A (p.Thr515=) single nucleotide variant Uncertain significance rs373005131 GRCh38 Chromosome 1, 16993833: 16993833
39 ATP13A2 NM_022089.3(ATP13A2): c.2367C> T (p.Leu789=) single nucleotide variant Benign rs140048110 GRCh38 Chromosome 1, 16990172: 16990172
40 ATP13A2 NM_022089.3(ATP13A2): c.2367C> T (p.Leu789=) single nucleotide variant Benign rs140048110 GRCh37 Chromosome 1, 17316667: 17316667
41 ATP13A2 NM_022089.3(ATP13A2): c.2412G> A (p.Lys804=) single nucleotide variant Uncertain significance rs978493820 GRCh37 Chromosome 1, 17316622: 17316622
42 ATP13A2 NM_022089.3(ATP13A2): c.2412G> A (p.Lys804=) single nucleotide variant Uncertain significance rs978493820 GRCh38 Chromosome 1, 16990127: 16990127
43 ATP13A2 NM_022089.3(ATP13A2): c.1831C> A (p.Gln611Lys) single nucleotide variant Uncertain significance rs770682887 GRCh37 Chromosome 1, 17318995: 17318995
44 ATP13A2 NM_022089.3(ATP13A2): c.1831C> A (p.Gln611Lys) single nucleotide variant Uncertain significance rs770682887 GRCh38 Chromosome 1, 16992500: 16992500
45 ATP13A2 NM_022089.3(ATP13A2): c.777C> T (p.Tyr259=) single nucleotide variant Likely benign rs780133367 GRCh37 Chromosome 1, 17326958: 17326958
46 ATP13A2 NM_022089.3(ATP13A2): c.777C> T (p.Tyr259=) single nucleotide variant Likely benign rs780133367 GRCh38 Chromosome 1, 17000463: 17000463
47 ATP13A2 NM_022089.3(ATP13A2): c.508G> A (p.Gly170Ser) single nucleotide variant Uncertain significance rs762075619 GRCh37 Chromosome 1, 17330876: 17330876
48 ATP13A2 NM_022089.3(ATP13A2): c.508G> A (p.Gly170Ser) single nucleotide variant Uncertain significance rs762075619 GRCh38 Chromosome 1, 17004381: 17004381
49 ATP13A2 NM_022089.3(ATP13A2): c.2348G> A (p.Arg783Gln) single nucleotide variant Likely benign rs137955309 GRCh37 Chromosome 1, 17316686: 17316686
50 ATP13A2 NM_022089.3(ATP13A2): c.2348G> A (p.Arg783Gln) single nucleotide variant Likely benign rs137955309 GRCh38 Chromosome 1, 16990191: 16990191

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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