MCID: HRD010
MIFTS: 66

Hereditary Spastic Paraplegia

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Eye diseases, Metabolic diseases, Gastrointestinal diseases, Bone diseases, Mental diseases

Aliases & Classifications for Hereditary Spastic Paraplegia

MalaCards integrated aliases for Hereditary Spastic Paraplegia:

Name: Hereditary Spastic Paraplegia 38 12 23 50 24 51 29 14
Hereditary Spastic Paraparesis 12 23 24
Familial Spastic Paraplegia 12 23 24
Strumpell-Lorrain Syndrome 23 24
Hsp 50 24
Spastic Paraplegia 3, Autosomal Dominant 69
Spastic Paraplegia, Hereditary 69
Spastic Paraplegia Hereditary 52
Familial Spastic Paraparesis 50
French Settlement Disease 12
Strumpell-Lorrain Disease 12
Fsp 50

Classifications:



Summaries for Hereditary Spastic Paraplegia

NINDS : 51 Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually individuals with HSP may require the assistance of a cane, walker, or wheelchair. Though the primary features of "pure" HSP are progressive lower limb spasticity and weakness, complicated forms may be accompanied by other symptoms. These additional symptoms include impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Brain MRI abnormalities, such as a thin corpus callosum, may be seen in some of the complicated forms of HSP.  Several genetic mutations have been identified which underlie various forms of HSP, and specialized genetic testing and diagnosis are available at some medical centers.  HSP has several forms of inheritance.  Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene.  Symptoms may begin in childhood or adulthood, depending on the particular HSP gene involved.

MalaCards based summary : Hereditary Spastic Paraplegia, also known as hereditary spastic paraparesis, is related to hereditary spastic paraplegia 62 and spastic paraplegia 31, autosomal dominant, and has symptoms including ataxia, spasticity and finger syndactyly. An important gene associated with Hereditary Spastic Paraplegia is KIF1A (Kinesin Family Member 1A), and among its related pathways/superpathways is Endocytosis. The drugs Acetylcholine and Botulinum Toxins have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes, and related phenotypes are Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers and behavior/neurological

NIH Rare Diseases : 50 hereditary spastic paraplegia (hsp) is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. in hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. this leads to difficulty walking. as degeneration continues, symptoms worsen. if only the lower body is affected, hsp is classified as uncomplicated or pure. hsp is classified as complicated or complex if other systems are involved. in these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. the different forms of hsp are caused by mutations in different genes. inheritance varies. there are no specific treatments to prevent, slow, or reverse hsp. individual symptoms may be treated with medications and/or physical therapy.  last updated: 4/24/2016

Disease Ontology : 12 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.

Wikipedia : 72 Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive... more...

GeneReviews: NBK1509

Related Diseases for Hereditary Spastic Paraplegia

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 29, Autosomal Dominant
Spastic Paraplegia 63 Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 44, Autosomal Recessive
Spastic Paraplegia 74, Autosomal Recessive Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 77, Autosomal Recessive Spastic Paraplegia 25, Autosomal Recessive
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 53, Autosomal Recessive Spastic Paraplegia 37, Autosomal Dominant
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 18, Autosomal Recessive
Spastic Paraplegia 5a, Autosomal Recessive Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 33, Autosomal Dominant Spastic Paraplegia 9a, Autosomal Dominant
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 62 Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 55, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 3a, Autosomal Dominant Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 6, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 51, Autosomal Recessive Spastic Paraplegia 61, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 75, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 73, Autosomal Dominant Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 3a Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 62 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
Spastic Paraplegia 28 Spastic Paraplegia 30
Spastic Paraplegia 33 Spastic Paraplegia 35
Spastic Paraplegia 42 Spastic Paraplegia 43
Spastic Paraplegia 45 Spastic Paraplegia 46
Spastic Paraplegia 47 Spastic Paraplegia 48
Spastic Paraplegia 49 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 53
Spastic Paraplegia 54 Spastic Paraplegia 55
Spastic Paraplegia 56 Spastic Paraplegia 57
Spastic Paraplegia 59 Spastic Paraplegia 61
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 72 Spastic Paraplegia 75
Spastic Paraplegia 76 Spastic Paraplegia 44
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 Hereditary Spastic Paraplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 184)
id Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 62 34.0 ATL1 NIPA1 SPAST SPG11 ZFYVE27
2 spastic paraplegia 31, autosomal dominant 33.7 ATL1 SPAST ZFYVE27
3 spastic paraplegia 4, autosomal dominant 33.2 ATL1 NIPA1 SPAST SPG11 SPG7 ZFYVE27
4 spastic ataxia 3, autosomal recessive 30.7 HSPD1 PLP1
5 spastic ataxia 5, autosomal recessive 30.3 AFG3L2 SPG7
6 hereditary spastic paraplegia 3a 12.4
7 hereditary spastic paraplegia 72 12.2
8 hereditary spastic paraplegia 51 12.2
9 troyer syndrome 12.2
10 spastic paraplegia 7, autosomal recessive 12.1
11 spastic paraplegia 2, x-linked 12.0
12 spastic paraplegia 11 12.0
13 silver spastic paraplegia syndrome 11.9
14 mast syndrome 11.9
15 masa syndrome 11.9
16 spg11-related hereditary spastic paraplegia with thin corpus callosum 11.9
17 spastic paraplegia 5a, autosomal recessive 11.8
18 spastic paraplegia 11, autosomal recessive 11.8
19 spastic paraplegia 23 11.8
20 spastic paraplegia 43, autosomal recessive 11.8
21 spastic paraplegia 25, autosomal recessive 11.8
22 spastic paraplegia 32, autosomal recessive 11.8
23 spastic paraplegia 12, autosomal dominant 11.8
24 spastic paraplegia 48, autosomal recessive 11.8
25 spastic paraplegia 45, autosomal recessive 11.8
26 spastic paraplegia 28, autosomal recessive 11.8
27 spastic paraplegia 13, autosomal dominant 11.8
28 spastic paraplegia 15, autosomal recessive 11.8
29 spastic paraplegia 41, autosomal dominant 11.8
30 spastic paraplegia 30, autosomal recessive 11.8
31 spastic paraplegia 37, autosomal dominant 11.8
32 spastic paraplegia 49, autosomal recessive 11.8
33 spastic paraplegia 54, autosomal recessive 11.8
34 spastic paraplegia 6, autosomal dominant 11.8
35 spastic paraplegia 57, autosomal recessive 11.8
36 spastic paraplegia 18, autosomal recessive 11.8
37 spastic paraplegia 29, autosomal dominant 11.8
38 spastic paraplegia 42, autosomal dominant 11.8
39 spastic paraplegia 8, autosomal dominant 11.8
40 spastic paraplegia 10, autosomal dominant 11.8
41 spastic paraplegia 61, autosomal recessive 11.8
42 spastic paraplegia 14, autosomal recessive 11.8
43 spastic paraplegia 46, autosomal recessive 11.8
44 spastic paraplegia 26, autosomal recessive 11.8
45 spastic paraplegia 35, autosomal recessive 11.8
46 spastic paraplegia 36, autosomal dominant 11.8
47 spastic paraplegia 38, autosomal dominant 11.8
48 spastic paraplegia 55, autosomal recessive 11.8
49 spastic paraplegia 56, autosomal recessive 11.8
50 spastic paraplegia 24, autosomal recessive 11.8

Graphical network of the top 20 diseases related to Hereditary Spastic Paraplegia:



Diseases related to Hereditary Spastic Paraplegia

Symptoms & Phenotypes for Hereditary Spastic Paraplegia

Human phenotypes related to Hereditary Spastic Paraplegia:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 frequent (33%) HP:0001251
2 spasticity 32 hallmark (90%) HP:0001257
3 finger syndactyly 32 occasional (7.5%) HP:0006101
4 gait disturbance 32 hallmark (90%) HP:0001288
5 paraplegia 32 hallmark (90%) HP:0010550
6 impaired pain sensation 32 hallmark (90%) HP:0007328

UMLS symptoms related to Hereditary Spastic Paraplegia:


leg cramps, pain in lower limb, lower limb muscle weakness

GenomeRNAi Phenotypes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers GR00195-A-3 8.8 KATNB1 LONP1 HSPD1

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ALS2 ATL1 HSPD1 KIF1A KIF5A KY
2 growth/size/body region MP:0005378 9.73 KY LONP1 PLP1 SPG11 SPG7 WASHC5
3 nervous system MP:0003631 9.4 AFG3L2 ALS2 HSPD1 KATNB1 KIF1A KIF5A

Drugs & Therapeutics for Hereditary Spastic Paraplegia

Drugs for Hereditary Spastic Paraplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
2 Botulinum Toxins Phase 2, Phase 3
3 Cholinergic Agents Phase 2, Phase 3
4 Neurotransmitter Agents Phase 2, Phase 3
5
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
6
Resveratrol Experimental, Investigational Phase 2 501-36-0 445154
7 Analgesics Phase 2
8 Analgesics, Non-Narcotic Phase 2
9 Anticholesteremic Agents Phase 2
10 Anti-Inflammatory Agents Phase 2
11 Anti-Inflammatory Agents, Non-Steroidal Phase 2
12 Antimetabolites Phase 2
13 Antineoplastic Agents, Phytogenic Phase 2
14 Antioxidants Phase 2
15 Antirheumatic Agents Phase 2
16 Atorvastatin Calcium Phase 2 134523-03-8
17 Calcium, Dietary Phase 2
18 Cathartics Phase 2
19 Gastrointestinal Agents Phase 2
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
21 Hypolipidemic Agents Phase 2
22 Laxatives Phase 2
23 Lipid Regulating Agents Phase 2
24 Peripheral Nervous System Agents Phase 2
25 Platelet Aggregation Inhibitors Phase 2
26 Protective Agents Phase 2
27
Choline Approved, Nutraceutical 62-49-7 305
28 N-Methylaspartate
29 Aspartic Acid Nutraceutical
30
Creatine Nutraceutical 57-00-1 586

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting NCT02604186 Phase 2, Phase 3
2 Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5 Active, not recruiting NCT02314208 Phase 2 Xenbilox;Tahor
3 Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
4 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
5 The Pre-SPG4 Study Recruiting NCT03206190
6 Studying Cognition in SPG4 Recruiting NCT03104088
7 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
8 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
9 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Enrolling by invitation NCT02852278
10 Studying Non-motor Symptoms in SPG4 Not yet recruiting NCT03204773

Search NIH Clinical Center for Hereditary Spastic Paraplegia

Genetic Tests for Hereditary Spastic Paraplegia

Genetic tests related to Hereditary Spastic Paraplegia:

id Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 29 24

Anatomical Context for Hereditary Spastic Paraplegia

MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

39
Brain, Spinal Cord, Testes, Eye, Retina, Bone, Cerebellum

Publications for Hereditary Spastic Paraplegia

Articles related to Hereditary Spastic Paraplegia:

(show top 50) (show all 555)
id Title Authors Year
1
SPG20 mutation in three siblings with familial hereditary spastic paraplegia. ( 28679690 )
2017
2
TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum. ( 28124177 )
2017
3
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype. ( 28626794 )
2017
4
Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia. ( 28933964 )
2017
5
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. ( 28488683 )
2017
6
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia. ( 28158749 )
2017
7
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. ( 28295203 )
2017
8
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. ( 28491902 )
2017
9
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. ( 28716533 )
2017
10
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. ( 27738760 )
2017
11
Beneficial effects of rapamycin in a Drosophila model for hereditary spastic paraplegia. ( 27909242 )
2017
12
Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26. ( 28536081 )
2017
13
Novel mutations c. [453dupA] + [663G > A] of the SPG11 gene associated with hereditary spastic paraplegia with a thin corpus callosum. ( 28681766 )
2017
14
Sequential bilateral complete rupture of the rectus femoris muscle in a patient with hereditary spastic paraplegia. ( 28264543 )
2017
15
Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia. ( 28471471 )
2017
16
Clinical and genetic study of hereditary spastic paraplegia in Canada. ( 27957547 )
2017
17
Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients. ( 28736820 )
2017
18
Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. ( 28884889 )
2017
19
Studies on truncating mutations of SPAST associated with Hereditary Spastic Paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin. ( 28495799 )
2017
20
New genetic causes for complex hereditary spastic paraplegia. ( 28716262 )
2017
21
Characterization of kinesin switch I mutations that cause hereditary spastic paraplegia. ( 28678816 )
2017
22
First patient with hereditary spastic paraplegia type 8 in Poland. ( 28878906 )
2017
23
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments. ( 28017243 )
2017
24
Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review. ( 28099355 )
2017
25
Hereditary spastic paraplegia type 8 - neuropathological findings. ( 28181327 )
2017
26
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. ( 28332297 )
2017
27
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia. ( 28389476 )
2017
28
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). ( 28137957 )
2017
29
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. ( 28572275 )
2017
30
Hereditary spastic paraplegia: More than an upper motor neuron disease. ( 28449883 )
2017
31
The importance of understanding gait features in hereditary spastic paraplegia: accomplishments and next steps. ( 26946256 )
2016
32
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. ( 27260292 )
2016
33
SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China. ( 27553021 )
2016
34
KCNA2 mutations are rare in hereditary spastic paraplegia. ( 28019661 )
2016
35
Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family. ( 27018819 )
2016
36
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. ( 27153400 )
2016
37
Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18. ( 27824013 )
2016
38
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. ( 27679996 )
2016
39
Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia. ( 27025852 )
2016
40
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11. ( 27900367 )
2016
41
Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia. ( 27229699 )
2016
42
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. ( 27084228 )
2016
43
The Presynaptic Microtubule Cytoskeleton in Physiological and Pathological Conditions: Lessons from Drosophila Fragile X Syndrome and Hereditary Spastic Paraplegias. ( 27504085 )
2016
44
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. ( 27334366 )
2016
45
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5). ( 27879220 )
2016
46
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. ( 26888483 )
2016
47
Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report. ( 28119845 )
2016
48
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. ( 27725288 )
2016
49
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. ( 27259058 )
2016
50
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. ( 26751646 )
2016

Variations for Hereditary Spastic Paraplegia

ClinVar genetic disease variations for Hereditary Spastic Paraplegia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
2 KY NM_178554.4(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18Tyrfs) insertion Pathogenic rs1085307110 GRCh37 Chromosome 3, 134369751: 134369752

Copy number variations for Hereditary Spastic Paraplegia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 144964 2 32142183 32236210 Deletion SPAST hereditary spastic paraplegia

Expression for Hereditary Spastic Paraplegia

Search GEO for disease gene expression data for Hereditary Spastic Paraplegia.

Pathways for Hereditary Spastic Paraplegia

Pathways related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.34 KIF5A SPART WASHC5 ZFYVE27

GO Terms for Hereditary Spastic Paraplegia

Cellular components related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.67 ALS2 HSPD1 NIPA1 WASHC5
2 microtubule GO:0005874 9.65 DNAH8 KATNB1 KIF1A KIF5A SPAST
3 dendrite GO:0030425 9.61 ALS2 SPG11 ZFYVE27
4 neuronal cell body GO:0043025 9.58 ALS2 KATNB1 KIF5A
5 axon cytoplasm GO:1904115 9.33 KIF1A SPAST SPG7
6 endoplasmic reticulum tubular network GO:0071782 9.32 ATL1 ZFYVE27
7 axon GO:0030424 9.1 ALS2 ATL1 KATNB1 KIF1A SPG11 ZFYVE27
8 m-AAA complex GO:0005745 8.96 AFG3L2 SPG7

Biological processes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.54 AFG3L2 LONP1 SPG7
2 microtubule-based movement GO:0007018 9.5 DNAH8 KIF1A KIF5A
3 mitochondrial calcium ion transport GO:0006851 9.43 AFG3L2 SPG7
4 chaperone-mediated protein complex assembly GO:0051131 9.4 HSPD1 LONP1
5 microtubule severing GO:0051013 9.26 KATNB1 SPAST
6 axonogenesis GO:0007409 9.26 AFG3L2 ALS2 ATL1 SPAST
7 positive regulation of microtubule depolymerization GO:0031117 9.16 KATNB1 SPAST
8 anterograde axonal transport GO:0008089 8.8 KIF1A SPAST SPG7

Molecular functions related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.92 AFG3L2 ATL1 DDHD1 HSPD1 KY LONP1
2 unfolded protein binding GO:0051082 9.61 AFG3L2 HSPD1 SPG7
3 motor activity GO:0003774 9.58 DNAH8 KIF1A KIF5A
4 microtubule binding GO:0008017 9.56 KATNB1 KIF1A KIF5A SPAST
5 ATP binding GO:0005524 9.56 AFG3L2 DNAH8 HSPD1 KIF1A KIF5A LONP1
6 microtubule motor activity GO:0003777 9.54 DNAH8 KIF1A KIF5A
7 ATPase activity GO:0016887 9.46 DNAH8 HSPD1 KIF1A LONP1
8 microtubule-severing ATPase activity GO:0008568 8.62 KATNB1 SPAST

Sources for Hereditary Spastic Paraplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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