SPG2
MCID: SPS133
MIFTS: 50

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 57 73 13 71
Spg2 57 12 20 58 73
Hereditary Spastic Paraplegia 2 12 29 6 15
Spastic Paraplegia Type 2 12 43 58
Spastic Paraplegia 2 20 43 73
Sppx2 57 20 73
Hereditary X-Linked Recessive Spastic Paraplegia 43 71
X Linked Recessive Hereditary Spastic Paraplegia 43
Spastic Paraplegia Type 2, X-Linked 74
X-Linked Spastic Paraplegia Type 2 58
X-Linked Spastic Paraplegia 2 12
Paraplegia, Spastic, Type 2 39
Spastic Paraparesis Type 2 58
Spastic Gait Type 2 58

Characteristics:

Orphanet epidemiological data:

58
spastic paraplegia type 2
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
highly variable phenotype
onset in childhood
pelizaeus-merzbacher disease (pmd, ) is an allelic disorder

Inheritance:
x-linked recessive


HPO:

31
spastic paraplegia 2, x-linked:
Onset and clinical course juvenile onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0110773
OMIM® 57 312920
OMIM Phenotypic Series 57 PS303350
MeSH 44 D015419
ICD10 32 G11.4
MESH via Orphanet 45 C536857
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1839264
Orphanet 58 ORPHA99015
MedGen 41 C1839264
UMLS 71 C0751604 C1839264

Summaries for Spastic Paraplegia 2, X-Linked

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99015DefinitionA rare, 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 (<5 years) but may be delayed until early adulthood. It presents with weakness, hyperreflexia, Babinski sign and spastic gait due to spastic paraparesis. Autonomic dysfunction (spastic urinary bladder and possibly bowel, with increased urinary and fecal frequency and incontinence) is frequent. Patients are able to walk and their speech is normal. There is no CNS involvement and no cognitive decline. Complicated SPG2 shares the same features as SPG2 but also shows additional CNS involvement like nystagmus, and ataxia that present in the first years of life. Optic atrophy may be present. Patients can also show a mild intellectual deficit.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 spg2, is related to pelizaeus-merzbacher disease and spastic quadriplegia, and has symptoms including ataxia and cerebellar signs. An important gene associated with Spastic Paraplegia 2, X-Linked is PLP1 (Proteolipid Protein 1), and among its related pathways/superpathways are Endocytosis and Glial Cell Differentiation. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are hyperreflexia and muscle weakness

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

MedlinePlus Genetics : 43 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.People with the pure form of spastic paraplegia type 2 experience spasticity in the lower limbs, usually without any additional features. People with the complex form of spastic paraplegia type 2 have lower limb spasticity and can also experience problems with movement and balance (ataxia); involuntary movements of the eyes (nystagmus); mild intellectual disability; involuntary, rhythmic shaking (tremor); and degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Symptoms usually become apparent between the ages of 1 and 5 years; those affected are typically able to walk and have a normal lifespan.

OMIM® : 57 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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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 : 74 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 top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 32.2 RAB9B PLP1 GJC2 CNP
2 spastic quadriplegia 30.5 RAB9B PLP1 FA2H
3 axonal neuropathy 30.4 SPG11 KIF5A ATL1
4 spasticity 30.4 WASHC5 SPG7 SPAST RAB9B
5 pelizaeus-merzbacher-like disease 30.3 PLP1 GJC2
6 primary progressive multiple sclerosis 30.2 REEP1 PLP1 KIF5A
7 leukodystrophy 30.2 PLP1 GJC2 FA2H CNP
8 hypomyelinating leukodystrophy 30.2 PLP1 GJC2 CNP
9 spastic paraparesis 30.1 SPG7 SPG11 SPAST FA2H
10 pure hereditary spastic paraplegia 29.9 SPAST RTN2 PLP1 KIF5A ERLIN2 ATL1
11 paraplegia 29.1 ZFYVE27 WASHC5 SPG7 SPG21 SPG11 SPAST
12 hereditary spastic paraplegia 28.4 ZFYVE27 WASHC5 SPG7 SPG21 SPG11 SPAST
13 complex hereditary spastic paraplegia 10.4 SPG7 SPG11
14 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 10.4 PLP1 GJC2
15 spinal cord neuroblastoma 10.4 ZFYVE27 REEP1
16 spinal cord primitive neuroectodermal neoplasm 10.4 ZFYVE27 REEP1
17 spastic ataxia 8 10.4 PLP1 GJC2
18 hypomyelinating leukoencephalopathy 10.4 PLP1 GJC2
19 leukodystrophy, hypomyelinating, 5 10.4 PLP1 GJC2
20 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 10.3 PLP1 GJC2
21 spastic paraplegia 29, autosomal dominant 10.3 WASHC5 SPG21
22 leukodystrophy, hypomyelinating, 4 10.3 PLP1 GJC2
23 spastic paraplegia 75, autosomal recessive 10.3 PLP1 PGAP1 GJC2
24 spastic paraplegia 19, autosomal dominant 10.3 WASHC5 SPG21
25 neuropathy, hereditary sensory, type id 10.3 SPAST KIF5A ATL1
26 spastic paraplegia 49, autosomal recessive 10.3 SPG7 SPG21 SPG11
27 spastic ataxia 10.3 SPG7 SPG11 GJC2
28 spastic paraplegia 55, autosomal recessive 10.3 SPG7 SPG21 SPG11
29 mast syndrome 10.3 ZFYVE27 SPG21 SPG11
30 spastic paraplegia 41, autosomal dominant 10.3 SPG21 SPAST KIF5A
31 spastic paraplegia 7, autosomal recessive 10.3 SPG7 SPG11
32 spastic paraplegia 24, autosomal recessive 10.3 SPG21 DMRTB1
33 hereditary spastic paraplegia 23 10.3 WASHC5 SPG21 SPG11
34 spastic paraplegia 25, autosomal recessive 10.3 WASHC5 SPG21 REEP1
35 pathologic nystagmus 10.3
36 cerebral degeneration 10.3 PLP1 GJC2 FA2H
37 nescav syndrome 10.3 RTN2 REEP1 AP5Z1
38 spastic paraplegia 45, autosomal recessive 10.2 SPG21 SPG11 PGAP1
39 spastic paraplegia 62, autosomal recessive 10.2 PGAP1 ERLIN2
40 spastic paraplegia 5a, autosomal recessive 10.2 SPG7 SPG11 SPAST KIF5A
41 spastic paraplegia, optic atrophy, and neuropathy 10.2 WASHC5 AP5Z1
42 spastic paraplegia 20, autosomal recessive 10.2 SPG7 SPG21 SPAST ATL1
43 amyotrophic lateral sclerosis type 5 10.2 SPG11 AP5Z1
44 motor peripheral neuropathy 10.2 SPG7 SPG11 REEP1 KIF5A
45 spinocerebellar ataxia, autosomal recessive 24 10.2 SPG7 FA2H
46 spastic paraplegia 32, autosomal recessive 10.2 WASHC5 SPG7 SPG21 SPG11
47 spastic paraplegia 63, autosomal recessive 10.2 SPG7 SPG21 SPG11 PGAP1
48 neurodegeneration with brain iron accumulation 5 10.2 SPG11 FA2H
49 spastic paraplegia 73, autosomal dominant 10.2 SPG21 REEP1 FA2H ATL1
50 spastic paraplegia 53, autosomal recessive 10.2 WASHC5 RTN2 ATL1 AP5Z1

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:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
3 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
4 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 bowel incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0002607
7 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
8 abnormality of extrapyramidal motor function 58 31 frequent (33%) Frequent (79-30%) HP:0002071
9 spastic/hyperactive bladder 58 31 frequent (33%) Frequent (79-30%) HP:0005340
10 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
11 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
12 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
13 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
14 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
15 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
16 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
17 spasticity 58 Very frequent (99-80%)
18 flexion contracture 31 HP:0001371
19 skeletal muscle atrophy 31 HP:0003202
20 dysmetria 31 HP:0001310
21 pes cavus 31 HP:0001761
22 spastic paraplegia 31 HP:0001258
23 abnormal cerebellum morphology 31 HP:0001317
24 spastic paraparesis 31 HP:0002313
25 lower limb spasticity 31 HP:0002061
26 spinocerebellar tract degeneration 31 HP:0002503
27 lower limb muscle weakness 31 HP:0007340
28 degeneration of the lateral corticospinal tracts 31 HP:0002314

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
ataxia
dysarthria
dysmetria
lower limb spasticity
more
Skeletal Feet:
pes cavus

Muscle Soft Tissue:
atrophy

Head And Neck Eyes:
nystagmus
optic atrophy

Skeletal Limbs:
joint contractures

Clinical features from OMIM®:

312920 (Updated 05-Mar-2021)

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


ataxia, cerebellar signs

MGI Mouse Phenotypes related to Spastic Paraplegia 2, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 AP5Z1 ATL1 CNP FA2H GJC2 KIF5A
2 cellular MP:0005384 9.7 AP5Z1 CNP DMRTB1 GJC2 KIF5A PGAP1
3 nervous system MP:0003631 9.4 AP5Z1 CNP FA2H GJC2 KIF5A PGAP1

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 Hereditary Spastic Paraplegia 2 29 PLP1

Anatomical Context for Spastic Paraplegia 2, X-Linked

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

40
Brain, Spinal Cord, Eye, Cerebellum, Skeletal Muscle, Testis

Publications for Spastic Paraplegia 2, X-Linked

Articles related to Spastic Paraplegia 2, X-Linked:

(show top 50) (show all 77)
# Title Authors PMID Year
1
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. 61 6 57
8012387 1994
2
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. 61 57 6
8320699 1993
3
Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. 57 6
17438221 2007
4
A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria. 6 57
9427151 1997
5
The rumpshaker mutation in spastic paraplegia. 57 6
7522741 1994
6
A sex-linked recessive form of spastic paraplegia. 57 6
14452137 1962
7
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. 57 61
15627202 2005
8
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. 61 57
11093273 2000
9
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. 57
16374829 2006
10
Age-related axonal and myelin changes in the rumpshaker mutation of the Plp gene. 6
14745569 2004
11
X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP). 6
9489796 1998
12
Advances in hereditary spastic paraplegia. 57
9266155 1997
13
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. 57
8649538 1996
14
A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia. 6
8956049 1996
15
Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene. 57
1380672 1992
16
Complicated hereditary spastic paraparesis with cerebral white matter lesions. 57
2368815 1990
17
X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. 57
2470540 1989
18
Etiological heterogeneity in X-linked spastic paraplegia. 57
3479019 1987
19
Recurrence risks in families of children with symmetrical spasticity. 57
870357 1977
20
Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport. 57
5727921 1968
21
Hind-leg paralysis: a new sex-linked mutation in the Syrian hamster. 57
5713627 1968
22
Sex-linked spastic paraplegia. 57
5964018 1966
23
Hereditary cerebral palsy; a preliminary report. 57
13406703 1957
24
Pathology of myelinated axons in the PLP-deficient mouse model of spastic paraplegia type 2 revealed by volume imaging using focused ion beam-scanning electron microscopy. 61
32156581 2020
25
Brain Magnetic Spectroscopy Imaging and Hereditary Spastic Paraplegia: A Focused Systematic Review on Current Landmarks and Future Perspectives. 61
32765386 2020
26
Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models. 61
33072739 2020
27
PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations. 61
30314286 2018
28
Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS. 61
30195779 2018
29
Patterns and modulations of Pendular nystagmus in a family with hereditary spastic paraplegia. 61
29246608 2017
30
Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2. 61
28836307 2017
31
SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. 61
28320130 2017
32
Role of Glycosyltransferases in Pollen Wall Primexine Formation and Exine Patterning. 61
27495941 2017
33
Temperature modulates testis steroidogenesis in European eel. 61
27013359 2016
34
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis. 61
27179222 2016
35
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease. 61
25043250 2015
36
Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation. 61
24685771 2015
37
Mice with a deletion of the major central myelin protein exhibit hypersensitivity to noxious thermal stimuli: involvement of central sensitization. 61
24423646 2014
38
Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. 61
24668814 2014
39
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping. 61
23711321 2014
40
Clinically relevant intronic splicing enhancer mutation in myelin proteolipid protein leads to progressive microglia and astrocyte activation in white and gray matter regions of the brain. 61
24314267 2013
41
The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease. 61
24519770 2013
42
Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype. 61
23245814 2013
43
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
44
Inborn errors of brain myelin formation. 61
23622380 2013
45
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
46
A novel PLP1 mutation further expands the clinical heterogeneity at the locus. 61
22343157 2012
47
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. 61
22422208 2012
48
An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene. 61
22101368 2011
49
Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'. 61
19955111 2010
50
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients. 61
19376225 2009

Variations for Spastic Paraplegia 2, X-Linked

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

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAB9B NM_000533.5(PLP1):c.418C>T (p.His140Tyr) SNV Pathogenic 11084 rs132630287 X:103041620-103041620 X:103786691-103786691
2 RAB9B NM_000533.5(PLP1):c.560T>C (p.Ile187Thr) SNV Pathogenic 11085 rs132630288 X:103042833-103042833 X:103787904-103787904
3 RAB9B NM_000533.5(PLP1):c.710T>C (p.Phe237Ser) SNV Pathogenic 11089 rs132630291 X:103044275-103044275 X:103789346-103789346
4 RAB9B NM_000533.5(PLP1):c.509C>T (p.Ser170Phe) SNV Pathogenic 11092 rs132630294 X:103042782-103042782 X:103787853-103787853
5 RAB9B NM_000533.5(PLP1):c.2T>C (p.Met1Thr) SNV Pathogenic 219649 rs864622194 X:103031925-103031925 X:103776997-103776997
6 PLP1 NC_000023.10:g.(?_103031918)_(103045531_?)dup Duplication Pathogenic 267338 X:103031918-103045531
7 PLP1 NC_000023.10:g.(?_103031754)_(103047548_?)dup Duplication Pathogenic 417363 X:103031754-103047548
8 RAB9B NM_000533.5(PLP1):c.415_418delinsAGT (p.Cys139fs) Indel Pathogenic 533383 rs1556267287 X:103041617-103041620 X:103786688-103786691
9 PLP1 NC_000023.10:g.(?_103031893)_(103045546_?)dup Duplication Pathogenic 533385 X:103031893-103045546
10 RAB9B NM_000533.5(PLP1):c.817C>T (p.Arg273Ter) SNV Pathogenic 488580 rs1556273167 X:103045509-103045509 X:103790581-103790581
11 RAB9B NM_000533.5(PLP1):c.453G>A (p.Lys151=) SNV Pathogenic 290425 rs886044450 X:103041655-103041655 X:103786726-103786726
12 RAB9B NM_000533.5(PLP1):c.489G>A (p.Trp163Ter) SNV Pathogenic 642236 rs1602384101 X:103042762-103042762 X:103787833-103787833
13 RAB9B NM_000533.5(PLP1):c.434G>A (p.Trp145Ter) SNV Pathogenic 11090 rs132630292 X:103041636-103041636 X:103786707-103786707
14 RAB9B NM_000533.5(PLP1):c.4+1del Deletion Pathogenic 654165 rs1602373055 X:103031926-103031926 X:103776998-103776998
15 PLP1 NC_000023.10:g.(?_103031893)_(103045546_?)del Deletion Pathogenic 655751 X:103031893-103045546
16 PLP1 NC_000023.10:g.(?_103031893)_(103045536_?)dup Duplication Pathogenic 660146 X:103031893-103045536
17 PLP1 GRCh37/hg19 Xq22.2(chrX:103029773-103036548)x0 copy number loss Pathogenic 691850 X:103029773-103036548
18 PLP1 GRCh37/hg19 Xq22.2(chrX:102967297-103038606)x0 copy number loss Pathogenic 691852 X:102967297-103038606
19 RAB9B NC_000023.10:g.(?_102831398)_(103220942_?)dup Duplication Pathogenic 832054 X:102831398-103220942
20 RAB9B NM_000533.5(PLP1):c.441A>T (p.Gly147=) SNV Pathogenic 944578 X:103041643-103041643 X:103786714-103786714
21 RAB9B NM_000533.5(PLP1):c.454-314T>G SNV Pathogenic 952824 X:103042413-103042413 X:103787484-103787484
22 RAB9B NM_000533.5(PLP1):c.712_713insTGCAGTTCCAAATG (p.His238fs) Insertion Likely pathogenic 817891 rs1602385672 X:103044277-103044278 X:103789348-103789349
23 RAB9B NM_000533.5(PLP1):c.365A>G (p.Lys122Arg) SNV Likely pathogenic 431078 rs1135401759 X:103041567-103041567 X:103786638-103786638
24 RAB9B NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) SNV Likely pathogenic 405941 rs1060500909 X:103040646-103040646 X:103785717-103785717
25 RAB9B NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) SNV Likely pathogenic 405941 rs1060500909 X:103040646-103040646 X:103785717-103785717
26 RAB9B NM_000533.5(PLP1):c.737G>C (p.Gly246Ala) SNV Likely pathogenic 93235 rs398123467 X:103044302-103044302 X:103789373-103789373
27 RAB9B NM_000533.5(PLP1):c.409C>T (p.Arg137Trp) SNV Uncertain significance 11098 rs132630295 X:103041611-103041611 X:103786682-103786682
28 RAB9B NM_000533.5(PLP1):c.380G>C (p.Arg127Thr) SNV Uncertain significance 464805 rs1556267201 X:103041582-103041582 X:103786653-103786653
29 RAB9B NM_000533.5(PLP1):c.689C>G (p.Thr230Arg) SNV Uncertain significance 464806 rs1556270495 X:103043432-103043432 X:103788503-103788503
30 RAB9B NM_000533.5(PLP1):c.701A>T (p.Gln234Leu) SNV Uncertain significance 405940 rs1060500908 X:103044266-103044266 X:103789337-103789337
31 RAB9B NM_000533.5(PLP1):c.41C>A (p.Ala14Asp) SNV Uncertain significance 561089 rs1569427243 X:103040547-103040547 X:103785618-103785618
32 RAB9B NM_000533.5(PLP1):c.677C>G (p.Ser226Cys) SNV Uncertain significance 561090 rs746949269 X:103043420-103043420 X:103788491-103788491
33 RAB9B NM_000533.5(PLP1):c.560T>G (p.Ile187Ser) SNV Uncertain significance 862082 X:103042833-103042833 X:103787904-103787904
34 RAB9B NM_000533.5(PLP1):c.763-3C>T SNV Uncertain significance 956566 X:103045452-103045452 X:103790524-103790524
35 RAB9B NM_000533.5(PLP1):c.85G>T (p.Val29Leu) SNV Uncertain significance 938189 X:103040591-103040591 X:103785662-103785662
36 RAB9B NM_000533.5(PLP1):c.157A>C (p.Lys53Gln) SNV Uncertain significance 938298 X:103040663-103040663 X:103785734-103785734
37 RAB9B NM_000533.5(PLP1):c.441A>C (p.Gly147=) SNV Uncertain significance 665125 rs1602383021 X:103041643-103041643 X:103786714-103786714
38 RAB9B NM_000533.5(PLP1):c.401C>T (p.Ser134Phe) SNV Uncertain significance 571492 rs1569427673 X:103041603-103041603 X:103786674-103786674
39 RAB9B NM_000533.5(PLP1):c.35T>C (p.Val12Ala) SNV Uncertain significance 576832 rs1049312344 X:103040541-103040541 X:103785612-103785612
40 RAB9B NM_000533.5(PLP1):c.485T>C (p.Val162Ala) SNV Uncertain significance 533382 rs1556268920 X:103042758-103042758 X:103787829-103787829
41 RAB9B NM_000533.5(PLP1):c.609T>C (p.Asp203=) SNV Benign 93232 rs1126707 X:103042882-103042882 X:103787953-103787953
42 RAB9B NM_000533.5(PLP1):c.168A>G (p.Gln56=) SNV Benign 129975 rs2233697 X:103040674-103040674 X:103785745-103785745
43 RAB9B NM_000533.5(PLP1):c.-31C>T SNV Benign 220658 rs2233695 X:103031893-103031893 X:103776965-103776965

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

73
# 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

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

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

# Super pathways Score Top Affiliating Genes
1 11.66 ZFYVE27 WASHC5 SPG21 KIF5A
2 9.53 PLP1 CNP

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 membrane GO:0016020 10.24 ZFYVE27 SPG7 SPG21 SPAST RTN2 REEP1
2 endoplasmic reticulum GO:0005783 9.81 ZFYVE27 WASHC5 SPAST RTN2 REEP1 PGAP1
3 endoplasmic reticulum membrane GO:0005789 9.56 ZFYVE27 SPAST RTN2 REEP1 PGAP1 FA2H
4 axon cytoplasm GO:1904115 9.5 SPG7 SPAST KIF5A
5 myelin sheath GO:0043209 9.43 PLP1 GJC2 CNP
6 endoplasmic reticulum tubular network GO:0071782 8.92 ZFYVE27 SPAST REEP1 ATL1

Biological processes related to Spastic Paraplegia 2, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.46 SPG11 PLP1 KIF5A CNP
2 axonogenesis GO:0007409 9.43 SPAST CNP ATL1
3 synaptic vesicle transport GO:0048489 9.32 SPG11 KIF5A
4 regulation of mitochondrial membrane permeability GO:0046902 8.96 SPG7 CNP
5 positive regulation of calcium ion transmembrane transport GO:1904427 8.62 PLP1 GJC2

Sources for Spastic Paraplegia 2, X-Linked

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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