FSP
MCID: HRD010
MIFTS: 67

Hereditary Spastic Paraplegia (FSP) malady

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

Aliases & Classifications for Hereditary Spastic Paraplegia

Aliases & Descriptions 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:



External Ids:

Disease Ontology 12 DOID:2476
ICD10 33 G11.4
ICD9CM 35 334.1
UMLS 69 C0037773

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 72 and spastic paraplegia 9a, autosomal dominant, and has symptoms including ataxia, finger syndactyly and spasticity. 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 Cholinergic Agents 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 : 71 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 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 56, Autosomal Recessive Spastic Paraplegia 72, 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 41, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
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 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
Hereditary Spastic Paraplegia 75 Hereditary Spastic Paraplegia 76
Hereditary Spastic Paraplegia 77 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 62
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
Spastic Paraplegia 78, Autosomal Recessive

Diseases related to Hereditary Spastic Paraplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 171)
id Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 72 33.6 ATL1 NIPA1 SPAST ZFYVE27
2 spastic paraplegia 9a, autosomal dominant 32.9 SPAST SPG20 ZFYVE27
3 spastic ataxia 3, autosomal recessive 30.1 HSPD1 PLP1
4 hereditary spastic paraplegia 3a 12.4
5 hereditary spastic paraplegia 62 12.2
6 hereditary spastic paraplegia 75 12.2
7 hereditary spastic paraplegia 77 12.2
8 troyer syndrome 12.2
9 hereditary spastic paraplegia 51 12.2
10 hereditary spastic paraplegia 76 12.2
11 spastic paraplegia 7, autosomal recessive 12.1
12 spastic paraplegia 2, x-linked 12.0
13 spastic paraplegia 11 12.0
14 silver spastic paraplegia syndrome 11.9
15 mast syndrome 11.9
16 masa syndrome 11.9
17 spg11-related hereditary spastic paraplegia with thin corpus callosum 11.9
18 spastic paraplegia 5a, autosomal recessive 11.9
19 spastic paraplegia 4, autosomal dominant 11.9
20 spastic paraplegia 11, autosomal recessive 11.9
21 spastic paraplegia 30, autosomal recessive 11.8
22 spastic paraplegia 54, autosomal recessive 11.8
23 spastic paraplegia 26, autosomal recessive 11.8
24 spastic paraplegia 61, autosomal recessive 11.8
25 spastic paraplegia 18, autosomal recessive 11.8
26 spastic paraplegia 10, autosomal dominant 11.8
27 spastic paraplegia 35, autosomal recessive 11.8
28 spastic paraplegia 57, autosomal recessive 11.8
29 spastic paraplegia 36, autosomal dominant 11.8
30 spastic paraplegia 8, autosomal dominant 11.8
31 spastic paraplegia 55, autosomal recessive 11.8
32 spastic paraplegia 29, autosomal dominant 11.8
33 spastic paraplegia 42, autosomal dominant 11.8
34 spastic paraplegia 46, autosomal recessive 11.8
35 spastic paraplegia 24, autosomal recessive 11.8
36 spastic paraplegia 14, autosomal recessive 11.8
37 spastic paraplegia 39, autosomal recessive 11.8
38 spastic paraplegia 43, autosomal recessive 11.8
39 spastic paraplegia 38, autosomal dominant 11.8
40 spastic paraplegia 12, autosomal dominant 11.8
41 spastic paraplegia 23 11.8
42 spastic paraplegia 56, autosomal recessive 11.8
43 spastic paraplegia 32, autosomal recessive 11.8
44 spastic paraplegia 44, autosomal recessive 11.8
45 spastic paraplegia 28, autosomal recessive 11.8
46 spastic paraplegia 15, autosomal recessive 11.8
47 spastic paraplegia 25, autosomal recessive 11.8
48 spastic paraplegia 48, autosomal recessive 11.8
49 spastic paraplegia 45, autosomal recessive 11.8
50 spastic paraplegia 49, 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 HP:0001251
2 finger syndactyly 32 HP:0006101
3 spasticity 32 HP:0001257
4 gait disturbance 32 HP:0001288
5 impaired pain sensation 32 HP:0007328
6 paraplegia 32 HP:0010550

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 HSPD1 KATNB1 LONP1

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 KIF5A L1CAM LONP1 PLP1 SPAST SPG7
2 growth/size/body region MP:0005378 9.93 AFG3L2 ALS2 BSCL2 HSPD1 KATNB1 KIF1A
3 nervous system MP:0003631 9.7 SPG7 AFG3L2 ALS2 HSPD1 KATNB1 KIF1A
4 reproductive system MP:0005389 9.23 BSCL2 CYP7B1 DDHD1 HSPD1 KATNB1 L1CAM

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 Cholinergic Agents Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Botulinum Toxins Phase 2, Phase 3
5
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
6
Resveratrol Experimental, Investigational Phase 2 501-36-0, 955365-80-7 24856436 445154
7 Atorvastatin Calcium Phase 2 134523-03-8
8 Analgesics Phase 2
9 Gastrointestinal Agents Phase 2
10 Analgesics, Non-Narcotic Phase 2
11 Peripheral Nervous System Agents Phase 2
12 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
13 Hypolipidemic Agents Phase 2
14 Platelet Aggregation Inhibitors Phase 2
15 Anticholesteremic Agents Phase 2
16 Protective Agents Phase 2
17 Anti-Inflammatory Agents Phase 2
18 Laxatives Phase 2
19 Anti-Inflammatory Agents, Non-Steroidal Phase 2
20 Lipid Regulating Agents Phase 2
21 Antimetabolites Phase 2
22 Antirheumatic Agents Phase 2
23 Antineoplastic Agents, Phytogenic Phase 2
24 Antioxidants Phase 2
25 Cathartics Phase 2
26 Calcium, Dietary Phase 2
27
Choline Approved, Nutraceutical 62-49-7 305
28
Creatine Approved, Nutraceutical 57-00-1 586
29 N-Methylaspartate
30 Aspartic Acid Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
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
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 Studying Cognition in SPG4 Recruiting NCT03104088
6 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
7 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
8 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
9 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Enrolling by invitation NCT02852278

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 543)
id Title Authors Year
1
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. ( 28491902 )
2017
2
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). ( 28137957 )
2017
3
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia. ( 28389476 )
2017
4
Hereditary spastic paraplegia type 8 - neuropathological findings. ( 28181327 )
2017
5
Hereditary spastic paraplegia: More than an upper motor neuron disease. ( 28449883 )
2017
6
Studies on truncating mutations of SPAST associated with Hereditary Spastic Paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin. ( 28495799 )
2017
7
Beneficial effects of rapamycin in a Drosophila model for hereditary spastic paraplegia. ( 27909242 )
2017
8
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. ( 28488683 )
2017
9
TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum. ( 28124177 )
2017
10
Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review. ( 28099355 )
2017
11
Clinical and genetic study of hereditary spastic paraplegia in Canada. ( 27957547 )
2017
12
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments. ( 28017243 )
2017
13
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. ( 28295203 )
2017
14
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. ( 28332297 )
2017
15
Sequential bilateral complete rupture of the rectus femoris muscle in a patient with hereditary spastic paraplegia. ( 28264543 )
2017
16
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia. ( 28158749 )
2017
17
Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia. ( 28471471 )
2017
18
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. ( 27738760 )
2017
19
Identification of a novel SPG4 tandem base substitution in a Chinese hereditary spastic paraplegia family. ( 27942873 )
2016
20
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11. ( 27900367 )
2016
21
Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings. ( 28018685 )
2016
22
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56. ( 26936192 )
2016
23
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement. ( 27034427 )
2016
24
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. ( 26888483 )
2016
25
Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations. ( 26806216 )
2016
26
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study. ( 27077743 )
2016
27
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. ( 27334366 )
2016
28
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. ( 27153400 )
2016
29
Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation. ( 27638887 )
2016
30
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. ( 27259058 )
2016
31
De-novo KCNA2 mutations cause hereditary spastic paraplegia. ( 28032718 )
2016
32
Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report. ( 28119845 )
2016
33
The importance of understanding gait features in hereditary spastic paraplegia: accomplishments and next steps. ( 26946256 )
2016
34
Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia. ( 27025852 )
2016
35
Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family. ( 27018819 )
2016
36
A novel SPAST frameshift mutation in a Chinese family with hereditary spastic paraplegia. ( 27629539 )
2016
37
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5). ( 27879216 )
2016
38
Multiparametric 3T MRI evaluation of hereditary spastic paraplegia: A case report. ( 27857457 )
2016
39
Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells. ( 27956894 )
2016
40
Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia. ( 27229699 )
2016
41
KCNA2 mutations are rare in hereditary spastic paraplegia. ( 28019661 )
2016
42
Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient. ( 27789400 )
2016
43
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. ( 27084228 )
2016
44
Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia. ( 27318863 )
2016
45
Kinematic gait deficits at the trunk and pelvis: characteristic features in children with hereditary spastic paraplegia. ( 26910787 )
2016
46
Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. ( 27544497 )
2016
47
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. ( 27217339 )
2016
48
Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. ( 27121928 )
2016
49
Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18. ( 27824013 )
2016
50
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. ( 27679996 )
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

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 SPG20 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 neuronal cell body GO:0043025 9.76 ALS2 KATNB1 KIF5A L1CAM
2 early endosome GO:0005769 9.67 ALS2 HSPD1 NIPA1 WASHC5
3 midbody GO:0030496 9.65 KATNB1 SPAST SPG20
4 microtubule GO:0005874 9.65 DNAH8 KATNB1 KIF1A KIF5A SPAST
5 growth cone GO:0030426 9.61 ALS2 KATNB1 L1CAM
6 axon cytoplasm GO:1904115 9.33 KIF1A SPAST SPG7
7 endoplasmic reticulum tubular network GO:0071782 9.32 ATL1 ZFYVE27
8 axon GO:0030424 9.1 ALS2 ATL1 KATNB1 KIF1A L1CAM ZFYVE27
9 m-AAA complex GO:0005745 8.96 AFG3L2 SPG7
10 membrane GO:0016020 10.28 AFG3L2 ALS2 ATL1 BSCL2 CYP7B1 HSPD1

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 9.58 AFG3L2 LONP1 SPG7
2 microtubule-based movement GO:0007018 9.54 DNAH8 KIF1A KIF5A
3 mitochondrial calcium ion transport GO:0006851 9.48 AFG3L2 SPG7
4 lipid particle organization GO:0034389 9.46 BSCL2 SPG20
5 chaperone-mediated protein complex assembly GO:0051131 9.43 HSPD1 LONP1
6 axon development GO:0061564 9.32 L1CAM PLP1
7 microtubule severing GO:0051013 9.26 KATNB1 SPAST
8 axonogenesis GO:0007409 9.26 AFG3L2 ALS2 ATL1 SPAST
9 positive regulation of microtubule depolymerization GO:0031117 9.16 KATNB1 SPAST
10 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 unfolded protein binding GO:0051082 9.58 AFG3L2 HSPD1 SPG7
2 motor activity GO:0003774 9.54 DNAH8 KIF1A KIF5A
3 microtubule binding GO:0008017 9.46 KATNB1 KIF1A KIF5A SPAST
4 microtubule motor activity GO:0003777 9.43 DNAH8 KIF1A KIF5A
5 microtubule-severing ATPase activity GO:0008568 9.32 KATNB1 SPAST
6 ATPase activity GO:0016887 9.26 DNAH8 HSPD1 KIF1A LONP1
7 ATP binding GO:0005524 9.23 AFG3L2 DNAH8 HSPD1 KIF1A KIF5A LONP1

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....