SPG2
MCID: SPS133
MIFTS: 42

Spastic Paraplegia 2, X-Linked (SPG2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Paraplegia 2, X-Linked

MalaCards integrated aliases for Spastic Paraplegia 2, X-Linked:

Name: Spastic Paraplegia 2, X-Linked 58 76 13 74
Spastic Paraplegia 2 54 26 76 30 6
Spg2 58 12 54 60 76
Spastic Paraplegia Type 2 12 26 60
Sppx2 58 54 76
Hereditary X-Linked Recessive Spastic Paraplegia 26 74
Hereditary Spastic Paraplegia 2 12 15
X Linked Recessive Hereditary Spastic Paraplegia 26
Spastic Paraplegia Type 2, X-Linked 77
X-Linked Spastic Paraplegia Type 2 60
X-Linked Spastic Paraplegia 2 12
Paraplegia, Spastic, Type 2 41
Spastic Paraparesis Type 2 60
Spastic Gait Type 2 60

Characteristics:

Orphanet epidemiological data:

60
spastic paraplegia type 2
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

OMIM:

58
Miscellaneous:
highly variable phenotype
onset in childhood
pelizaeus-merzbacher disease (pmd, ) is an allelic disorder

Inheritance:
x-linked recessive


HPO:

33
spastic paraplegia 2, x-linked:
Onset and clinical course juvenile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Spastic Paraplegia 2, X-Linked

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99015Disease definitionSpastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.EpidemiologyThe prevalence and incidence of SPG2 have not been reported, but as part of the Pelizaeus-Merzbacher (PMD; see this term) spectrum, SPG2 roughly accounts for about 20 % of cases. There have been approximately 20 cases published on SPG2. SPG2 affects males but some female heterozygotes presenting in adulthood with a milder phenotype have also been reported.Clinical descriptionSPG2 spans a continuum of phenotypes that goes from pure to complicated SPG2. Pure SPG2 manifests as early as infancy or early childhood (EtiologySPG2 is due to missense substitutions affecting the PLP1 gene. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). SPG2 is allelic to Pelizaeus-Merzbacher disease (PMD; see this term) that is also due to PLP1 mutations.Diagnostic methodsDiagnosis is based on clinical, electrophysiologic, and neuroradiological findings. White matter N-acetyl aspartate levels are reduced. Brain magnetic resonance imaging (MRI) reveals patchy or diffuse hypomyelination on T2-weighted images. Patients with pure SPG2 can have very subtle T2 hyperintensity. Other MR techniques, including MR spectroscopy and diffusion tensor imaging are useful in the diagnosis of the disease. Molecular genetic testing of PLP1 confirms the diagnosis.Differential diagnosisDifferential diagnosis includes other forms of hereditary spastic paraplegia (see this tem). Complicated SPG2 is not clearly distinguishable from mild Pelizaeus-Merzbacher disease (PMD) and null syndrome (see these terms).Antenatal diagnosisPrenatal genetic testing is possible when a family's underlying PLP1 mutation has been identified.Genetic counselingTransmission is X-linked recessive.Management and treatmentA son born to a female carrier has a 50% risk of inheriting the mutation and developing the disease, while a daughter has a 50% risk of being a carrier. All daughters of an affected male will be carriers but none of his sons will be affected. Management is multidisciplinary and involves neurologists, physical therapists, and orthopedic doctors. Treatment may include antiepileptic drugs for seizures, and physical therapy with antispasticity drugs (baclofen, diazepam, tizanidine, botulinum toxin, dantrolene) for spasticity. Regular surveillance is necessary.PrognosisPure SPG2 patients show a normal life expectancy. In complicated SPG2 cases, patients deteriorate neurologically leading to a shorter life expectancy (between the fourth and seventh decade) typically from aspiration pneumonia, pulmonary embolism and other complications of generalized weakness.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spastic Paraplegia 2, X-Linked, also known as spastic paraplegia 2, is related to pelizaeus-merzbacher disease and paraplegia, and has symptoms including ataxia and cerebellar signs. An important gene associated with Spastic Paraplegia 2, X-Linked is PLP1 (Proteolipid Protein 1). Affiliated tissues include brain, spinal cord and testes, and related phenotypes are muscle weakness and hyperreflexia

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the PLP1 gene on chromosome Xq22.2.

Genetics Home Reference : 26 Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 2 can occur in either the pure or complex form.

OMIM : 58 The hereditary spastic paraplegias (SPG) 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). Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see 182600), and autosomal recessive (see 270800) forms of SPG have been described. For discussion of genetic heterogeneity of X-linked SPG, see 303350. (312920)

UniProtKB/Swiss-Prot : 76 Spastic paraplegia 2, X-linked: 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. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, mental retardation, optic atrophy.

Wikipedia : 77 Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive... more...

Related Diseases for Spastic Paraplegia 2, X-Linked

Diseases in the Spastic Paraplegia 2, X-Linked family:

Spastic Paraplegia 16, X-Linked Spastic Paraplegia 34, X-Linked

Diseases related to Spastic Paraplegia 2, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 32.7 GJC2 PLP1
2 paraplegia 28.5 AP5Z1 ATL1 PLP1 REEP1 RTN2 ZFYVE27
3 hereditary spastic paraplegia 27.7 AP4B1 AP5Z1 ATL1 GJC2 PLP1 REEP1
4 pelizaeus-merzbacher-like disease 10.2 GJC2 PLP1
5 leukodystrophy, hypomyelinating, 4 10.2 GJC2 PLP1
6 hypomyelinating leukoencephalopathy 10.1 GJC2 PLP1
7 multiple sclerosis 10.1
8 leukodystrophy, hypomyelinating, 2 10.1 GJC2 PLP1
9 spastic paraplegia 54, autosomal recessive 10.1 AP5Z1 RTN2
10 spastic paraplegia 18, autosomal recessive 10.0 AP5Z1 REEP1
11 spastic paraplegia 39, autosomal recessive 10.0 AP5Z1 REEP1
12 spastic paraplegia 30, autosomal recessive 10.0 AP5Z1 REEP1
13 aging 10.0
14 axonal neuropathy 10.0
15 neuropathy 10.0
16 cerebral atrophy 10.0
17 spastic paraplegia 56, autosomal recessive 10.0 AP5Z1 RTN2
18 cerebral degeneration 10.0 GJC2 PLP1
19 spastic paraplegia 42, autosomal dominant 9.9 AP5Z1 REEP1
20 spastic paraplegia 44, autosomal recessive 9.9 AP5Z1 GJC2 ZFYVE27
21 hypomyelinating leukodystrophy 9.9 GJC2 PLP1
22 hereditary spastic paraplegia 51 9.8 AP4B1 AP5Z1 RTN2
23 spastic paraplegia 50, autosomal recessive 9.8 AP4B1 AP5Z1 RTN2
24 spastic paraplegia 52, autosomal recessive 9.8 AP4B1 AP5Z1 RTN2
25 spastic paraplegia 28, autosomal recessive 9.8 AP4B1 AP5Z1 RTN2
26 spastic paraplegia 47, autosomal recessive 9.7 AP4B1 AP5Z1 REEP1
27 spastic paraplegia 13, autosomal dominant 9.6 AP5Z1 ATL1 GJC2
28 spastic paraplegia 61, autosomal recessive 9.6 ATL1 REEP1 RTN2
29 cerebral palsy 9.6 AP4B1 ATL1 PLP1
30 spastic paraplegia 33, autosomal dominant 9.6 AP5Z1 REEP1 RTN2 ZFYVE27
31 spastic paraplegia 6, autosomal dominant 9.6 AP5Z1 ATL1 REEP1
32 spastic paraplegia 8, autosomal dominant 9.6 AP5Z1 ATL1 REEP1
33 masa syndrome 9.5 AP5Z1 ATL1 REEP1
34 spastic paraplegia 4, autosomal dominant 9.4 ATL1 REEP1 RTN2 ZFYVE27
35 spastic paraplegia 3, autosomal dominant 9.4 ATL1 REEP1 RTN2 ZFYVE27
36 spastic paraplegia 31, autosomal dominant 9.1 AP5Z1 ATL1 REEP1 RTN2 ZFYVE27
37 spastic paraplegia 12, autosomal dominant 9.1 AP5Z1 ATL1 REEP1 RTN2 ZFYVE27
38 spastic paraplegia 10, autosomal dominant 9.1 AP5Z1 ATL1 REEP1 RTN2 ZFYVE27

Graphical network of the top 20 diseases related to Spastic Paraplegia 2, X-Linked:



Diseases related to Spastic Paraplegia 2, X-Linked

Symptoms & Phenotypes for Spastic Paraplegia 2, X-Linked

Human phenotypes related to Spastic Paraplegia 2, X-Linked:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
3 babinski sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0003487
4 spastic gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002064
5 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
6 bowel incontinence 60 33 frequent (33%) Frequent (79-30%) HP:0002607
7 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
8 abnormality of extrapyramidal motor function 60 33 frequent (33%) Frequent (79-30%) HP:0002071
9 spastic/hyperactive bladder 60 33 frequent (33%) Frequent (79-30%) HP:0005340
10 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
11 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
12 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
13 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
14 pulmonary embolism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002204
15 sensory neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000763
16 limitation of joint mobility 60 33 occasional (7.5%) Occasional (29-5%) HP:0001376
17 spasticity 60 Very frequent (99-80%)
18 flexion contracture 33 HP:0001371
19 skeletal muscle atrophy 33 HP:0003202
20 dysmetria 33 HP:0001310
21 pes cavus 33 HP:0001761
22 spastic paraplegia 33 HP:0001258
23 lower limb muscle weakness 33 HP:0007340
24 lower limb spasticity 33 HP:0002061
25 degeneration of the lateral corticospinal tracts 33 HP:0002314
26 spastic paraparesis 33 HP:0002313
27 spinocerebellar tract degeneration 33 HP:0002503
28 abnormal cerebellum morphology 33 HP:0001317

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
optic atrophy

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
atrophy

Neurologic Central Nervous System:
ataxia
dysarthria
hyperreflexia
dysmetria
lower limb spasticity
more
Skeletal Limbs:
joint contractures

Clinical features from OMIM:

312920

UMLS symptoms related to Spastic Paraplegia 2, X-Linked:


ataxia, cerebellar signs

Drugs & Therapeutics for Spastic Paraplegia 2, X-Linked

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 2, X-Linked

Genetic Tests for Spastic Paraplegia 2, X-Linked

Genetic tests related to Spastic Paraplegia 2, X-Linked:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 2 30 PLP1

Anatomical Context for Spastic Paraplegia 2, X-Linked

MalaCards organs/tissues related to Spastic Paraplegia 2, X-Linked:

42
Brain, Spinal Cord, Testes, Eye, Skeletal Muscle, Cerebellum

Publications for Spastic Paraplegia 2, X-Linked

Articles related to Spastic Paraplegia 2, X-Linked:

(show all 18)
# Title Authors Year
1
Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS. ( 30195779 )
2018
2
SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. ( 28320130 )
2017
3
Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation. ( 24685771 )
2015
4
PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations. ( 18470932 )
2008
5
Cloning and identification of a novel RNF6 transcriptional splice variant Spg2 in human development. ( 18368307 )
2008
6
Genetic background influences UPR but not PLP processing in the rumpshaker model of PMD/SPG2. ( 16944321 )
2007
7
Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. ( 17438221 )
2007
8
Processing of PLP in a model of Pelizaeus-Merzbacher disease/SPG2 due to the rumpshaker mutation. ( 16506223 )
2006
9
A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. ( 15450775 )
2004
10
Age-related axonal and myelin changes in the rumpshaker mutation of the Plp gene. ( 14745569 )
2004
11
Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2). ( 9934976 )
1999
12
X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP). ( 9489796 )
1998
13
A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria. ( 9427151 )
1997
14
A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia. ( 8956049 )
1996
15
The rumpshaker mutation in spastic paraplegia. ( 7522741 )
1994
16
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. ( 8012387 )
1994
17
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. ( 8320699 )
1993
18
A sex-linked recessive form of spastic paraplegia. ( 14452137 )
1962

Variations for Spastic Paraplegia 2, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 2, X-Linked:

76
# Symbol AA change Variation ID SNP ID
1 PLP1 p.His140Tyr VAR_004551 rs132630287
2 PLP1 p.Ile187Thr VAR_004556 rs132630288
3 PLP1 p.Phe237Ser VAR_004563 rs132630291
4 PLP1 p.His130Tyr VAR_015024 rs878853076
5 PLP1 p.His148Tyr VAR_015025
6 PLP1 p.Ser170Phe VAR_015029 rs132630294
7 PLP1 p.Ser226Pro VAR_015046
8 PLP1 p.Arg137Trp VAR_046910 rs132630295
9 PLP1 p.Pro216Leu VAR_046914
10 PLP1 p.Ala30Pro VAR_070667

ClinVar genetic disease variations for Spastic Paraplegia 2, X-Linked:

6 (show all 45)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLP1 NM_001128834.2(PLP1): c.418C> T (p.His140Tyr) single nucleotide variant Pathogenic rs132630287 GRCh37 Chromosome X, 103041620: 103041620
2 PLP1 NM_001128834.2(PLP1): c.418C> T (p.His140Tyr) single nucleotide variant Pathogenic rs132630287 GRCh38 Chromosome X, 103786691: 103786691
3 PLP1 NM_001128834.2(PLP1): c.560T> C (p.Ile187Thr) single nucleotide variant Pathogenic rs132630288 GRCh37 Chromosome X, 103042833: 103042833
4 PLP1 NM_001128834.2(PLP1): c.560T> C (p.Ile187Thr) single nucleotide variant Pathogenic rs132630288 GRCh38 Chromosome X, 103787904: 103787904
5 PLP1 NM_001128834.2(PLP1): c.710T> C (p.Phe237Ser) single nucleotide variant Pathogenic rs132630291 GRCh37 Chromosome X, 103044275: 103044275
6 PLP1 NM_001128834.2(PLP1): c.710T> C (p.Phe237Ser) single nucleotide variant Pathogenic rs132630291 GRCh38 Chromosome X, 103789346: 103789346
7 PLP1 NM_001128834.2(PLP1): c.509C> T (p.Ser170Phe) single nucleotide variant Pathogenic rs132630294 GRCh37 Chromosome X, 103042782: 103042782
8 PLP1 NM_001128834.2(PLP1): c.509C> T (p.Ser170Phe) single nucleotide variant Pathogenic rs132630294 GRCh38 Chromosome X, 103787853: 103787853
9 PLP1 NM_000533.4(PLP1): c.409C> T (p.Arg137Trp) single nucleotide variant Uncertain significance rs132630295 GRCh37 Chromosome X, 103041611: 103041611
10 PLP1 NM_000533.4(PLP1): c.409C> T (p.Arg137Trp) single nucleotide variant Uncertain significance rs132630295 GRCh38 Chromosome X, 103786682: 103786682
11 PLP1 NM_000533.4(PLP1): c.168A> G (p.Gln56=) single nucleotide variant Benign/Likely benign rs2233697 GRCh37 Chromosome X, 103040674: 103040674
12 PLP1 NM_000533.4(PLP1): c.168A> G (p.Gln56=) single nucleotide variant Benign/Likely benign rs2233697 GRCh38 Chromosome X, 103785745: 103785745
13 PLP1 NM_000533.4(PLP1): c.-31C> T single nucleotide variant Benign/Likely benign rs2233695 GRCh37 Chromosome X, 103031893: 103031893
14 PLP1 NM_000533.4(PLP1): c.-31C> T single nucleotide variant Benign/Likely benign rs2233695 GRCh38 Chromosome X, 103776965: 103776965
15 PLP1 NM_000533.4(PLP1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs864622194 GRCh37 Chromosome X, 103031925: 103031925
16 PLP1 NM_000533.4(PLP1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs864622194 GRCh38 Chromosome X, 103776997: 103776997
17 PLP1 NC_000023.10: g.(?_103031918)_(103045531_?)dup duplication Pathogenic GRCh37 Chromosome X, 103031918: 103045531
18 PLP1 NM_000533.4(PLP1): c.453G> A (p.Lys151=) single nucleotide variant Pathogenic rs886044450 GRCh37 Chromosome X, 103041655: 103041655
19 PLP1 NM_000533.4(PLP1): c.453G> A (p.Lys151=) single nucleotide variant Pathogenic rs886044450 GRCh38 Chromosome X, 103786726: 103786726
20 PLP1 NM_000533.4(PLP1): c.140T> C (p.Ile47Thr) single nucleotide variant Likely pathogenic rs1060500909 GRCh37 Chromosome X, 103040646: 103040646
21 PLP1 NM_000533.4(PLP1): c.140T> C (p.Ile47Thr) single nucleotide variant Likely pathogenic rs1060500909 GRCh38 Chromosome X, 103785717: 103785717
22 PLP1 NC_000023.10: g.(?_103031754)_(103047548_?)dup duplication Pathogenic GRCh37 Chromosome X, 103031754: 103047548
23 PLP1 NM_000533.4(PLP1): c.701A> T (p.Gln234Leu) single nucleotide variant Uncertain significance rs1060500908 GRCh38 Chromosome X, 103789337: 103789337
24 PLP1 NM_000533.4(PLP1): c.701A> T (p.Gln234Leu) single nucleotide variant Uncertain significance rs1060500908 GRCh37 Chromosome X, 103044266: 103044266
25 PLP1 NM_001128834.2(PLP1): c.365A> G (p.Lys122Arg) single nucleotide variant Likely pathogenic rs1135401759 GRCh37 Chromosome X, 103041567: 103041567
26 PLP1 NM_001128834.2(PLP1): c.365A> G (p.Lys122Arg) single nucleotide variant Likely pathogenic rs1135401759 GRCh38 Chromosome X, 103786638: 103786638
27 PLP1 NM_000533.4(PLP1): c.380G> C (p.Arg127Thr) single nucleotide variant Uncertain significance rs1556267201 GRCh38 Chromosome X, 103786653: 103786653
28 PLP1 NM_000533.4(PLP1): c.380G> C (p.Arg127Thr) single nucleotide variant Uncertain significance rs1556267201 GRCh37 Chromosome X, 103041582: 103041582
29 PLP1 NM_000533.4(PLP1): c.689C> G (p.Thr230Arg) single nucleotide variant Uncertain significance rs1556270495 GRCh38 Chromosome X, 103788503: 103788503
30 PLP1 NM_000533.4(PLP1): c.689C> G (p.Thr230Arg) single nucleotide variant Uncertain significance rs1556270495 GRCh37 Chromosome X, 103043432: 103043432
31 PLP1 NM_001128834.2(PLP1): c.817C> T (p.Arg273Ter) single nucleotide variant Pathogenic rs1556273167 GRCh37 Chromosome X, 103045509: 103045509
32 PLP1 NM_001128834.2(PLP1): c.817C> T (p.Arg273Ter) single nucleotide variant Pathogenic rs1556273167 GRCh38 Chromosome X, 103790581: 103790581
33 PLP1 NC_000023.10: g.(?_103031893)_(103045546_?)dup duplication Pathogenic GRCh37 Chromosome X, 103031893: 103045546
34 PLP1 NM_001128834.2(PLP1): c.415_418delTGTCinsAGT (p.Cys139Serfs) indel Pathogenic rs1556267287 GRCh37 Chromosome X, 103041617: 103041620
35 PLP1 NM_001128834.2(PLP1): c.415_418delTGTCinsAGT (p.Cys139Serfs) indel Pathogenic rs1556267287 GRCh38 Chromosome X, 103786688: 103786691
36 PLP1 NM_000533.4(PLP1): c.485T> C (p.Val162Ala) single nucleotide variant Uncertain significance rs1556268920 GRCh38 Chromosome X, 103787829: 103787829
37 PLP1 NM_000533.4(PLP1): c.485T> C (p.Val162Ala) single nucleotide variant Uncertain significance rs1556268920 GRCh37 Chromosome X, 103042758: 103042758
38 PLP1 NM_000533.4(PLP1): c.41C> A (p.Ala14Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 103040547: 103040547
39 PLP1 NM_000533.4(PLP1): c.41C> A (p.Ala14Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 103785618: 103785618
40 PLP1 NM_000533.4(PLP1): c.677C> G (p.Ser226Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 103043420: 103043420
41 PLP1 NM_000533.4(PLP1): c.677C> G (p.Ser226Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 103788491: 103788491
42 PLP1 NM_000533.4(PLP1): c.401C> T (p.Ser134Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 103041603: 103041603
43 PLP1 NM_000533.4(PLP1): c.401C> T (p.Ser134Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 103786674: 103786674
44 PLP1 NM_000533.4(PLP1): c.35T> C (p.Val12Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 103785612: 103785612
45 PLP1 NM_000533.4(PLP1): c.35T> C (p.Val12Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 103040541: 103040541

Expression for Spastic Paraplegia 2, X-Linked

Search GEO for disease gene expression data for Spastic Paraplegia 2, X-Linked.

Pathways for Spastic Paraplegia 2, X-Linked

GO Terms for Spastic Paraplegia 2, X-Linked

Cellular components related to Spastic Paraplegia 2, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.56 ATL1 REEP1 RTN2 ZFYVE27
2 endoplasmic reticulum membrane GO:0005789 9.26 ATL1 REEP1 RTN2 ZFYVE27
3 integral component of endoplasmic reticulum membrane GO:0030176 9.16 RTN2 ZFYVE27
4 endoplasmic reticulum tubular network GO:0071782 8.8 ATL1 REEP1 ZFYVE27

Sources for Spastic Paraplegia 2, X-Linked

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