MCID: HRD010
MIFTS: 65

Hereditary Spastic Paraplegia malady

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

Aliases & Classifications for Hereditary Spastic Paraplegia

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Aliases & Descriptions for Hereditary Spastic Paraplegia:

Name: Hereditary Spastic Paraplegia 34 11 23 47 24 48 26 13
Hereditary Spastic Paraparesis 11 23 24
Familial Spastic Paraplegia 11 23 24
Spastic Paraplegia, Hereditary 38 67
Strumpell-Lorrain Syndrome 23 24
Hsp 47 24
 
Spastic Paraplegia 3, Autosomal Dominant 67
Spastic Paraplegia Hereditary 49
Familial Spastic Paraparesis 47
Strumpell-Lorrain Disease 11
French Settlement Disease 11
Fsp 47

Classifications:



External Ids:

Disease Ontology11 DOID:2476
ICD1029 G11.4
ICD9CM31 334.1
MeSH38 D015419

Summaries for Hereditary Spastic Paraplegia

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NINDS:48 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.

MalaCards based summary: Hereditary Spastic Paraplegia, also known as hereditary spastic paraparesis, is related to spastic paraplegia 11 and spinocerebellar degeneration, and has symptoms including hypertonia, gait disturbance and hemiplegia/hemiparesis. An important gene associated with Hereditary Spastic Paraplegia is KIF1A (Kinesin Family Member 1A). Affiliated tissues include testes, brain and retina, and related mouse phenotypes are nervous system and reproductive system.

Disease Ontology:11 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.

Wikipedia:70 Hereditary spastic paraplegia (HSP), also known as hereditary spastic paraparesis, familial spastic... more...

GeneReviews for NBK1509

Related Diseases for Hereditary Spastic Paraplegia

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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
Spastic Paraplegia 4 Spastic Paraplegia 7
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 2 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 77
Autosomal Recessive Spastic Paraplegia Type 62 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 147)
idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 1132.6CYP7B1, KIF1A, SPG7
2spinocerebellar degeneration29.2DDHD1, KIF1A, SPAST, SPG7
3troyer syndrome12.2
4spg11-related hereditary spastic paraplegia with thin corpus callosum11.9
5masa syndrome11.9
6spastic paraplegia 711.8
7infantile-onset ascending hereditary spastic paralysis11.7
8spastic paraplegia 411.7
9spastic paraplegia 811.7
10mast syndrome11.6
11spastic paraplegia 211.6
12silver spastic paraplegia syndrome11.5
13spastic paraplegia 3a11.5
14spastic paraplegia 4, autosomal dominant11.3
15spastic paraplegia 5a, autosomal recessive11.3
16spastic paraplegia 3a, autosomal dominant11.3
17spastic paraplegia 11, autosomal recessive11.3
18spastic paraplegia 7, autosomal recessive11.3
19spastic paraplegia 2, x-linked11.3
20spastic paraplegia 3111.2
21paraplegia11.2
22spasticity11.2
23spastic paraplegia 1511.1
24familial spastic paralysis11.0
25foot drop11.0
26neuropathy10.4
27ataxia10.3
28hypotrichosis 110.3AFG3L2, SPG7
29lateral sclerosis10.2
30dementia10.2
31cerebritis10.2
32neuronitis10.2
33spastic paraplegia 9a, autosomal dominant10.1
34hereditary ataxia10.1
35axonal neuropathy10.1
36spastic paraplegia 29, autosomal dominant10.0
37spastic paraplegia 6310.0
38spastic paraplegia 2310.0
39spastic paraplegia 44, autosomal recessive10.0
40spastic paraplegia 31, autosomal dominant10.0
41spastic paraplegia 13, autosomal dominant10.0
42spastic ataxia 3, autosomal recessive10.0
43spastic paraplegia 30, autosomal recessive10.0
44mental retardation, autosomal dominant 1910.0
45spastic paraplegia 57, autosomal recessive10.0
46spastic paraplegia 42, autosomal dominant10.0
47spastic paraplegia 14, autosomal recessive10.0
48spastic paraplegia 38, autosomal dominant10.0
49spastic paraplegia 56, autosomal recessive10.0
50spastic paraplegia 72, autosomal recessive10.0

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



Diseases related to hereditary spastic paraplegia

Symptoms for Hereditary Spastic Paraplegia

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Human phenotypes related to Hereditary Spastic Paraplegia:

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 hypertonia63 hallmark (90%) HP:0001276
2 gait disturbance63 hallmark (90%) HP:0001288
3 hemiplegia/hemiparesis63 hallmark (90%) HP:0004374
4 impaired pain sensation63 hallmark (90%) HP:0007328
5 incoordination63 typical (50%) HP:0002311
6 finger syndactyly63 occasional (7.5%) HP:0006101

UMLS symptoms related to Hereditary Spastic Paraplegia:


cramps of lower extremities, pain in lower limb, hyperexplexia, weakness of lower limb

Drugs & Therapeutics for Hereditary Spastic Paraplegia

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

(show all 30)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 2, Phase 377651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2Neurotransmitter AgentsPhase 2, Phase 317734
3Cholinergic AgentsPhase 2, Phase 33846
4Botulinum ToxinsPhase 2, Phase 3669
5
chenodeoxycholic acidapprovedPhase 232474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
6
Resveratrolexperimental, investigationalPhase 2112501-36-0, 955365-80-724856436, 445154
Synonyms:
(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol
(E)-5-(p-Hydroxystyryl)resorcinol
(E)-5-[2-(4-Hydroxyphenyl)ethenyl]-1,3-benzenediol
(E)-5-[2-(4-hydroxyphenyl)ethenyl]-1,3-benzendiol
(E)-resveratrol
 
3,4',5-Stilbenetriol
3,4',5-Trihydroxystilbene
3,4',5-trihydroxy-stilbene
MK-1775
trans-3,4',5 - Trihydroxystilbene
trans-3,4',5-trihydroxystilbene
trans-Resveratrol
7Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21956
8Gastrointestinal AgentsPhase 28109
9Hypolipidemic AgentsPhase 22721
10Peripheral Nervous System AgentsPhase 222776
11Protective AgentsPhase 27190
12Platelet Aggregation InhibitorsPhase 22419
13CatharticsPhase 2520
14Lipid Regulating AgentsPhase 22702
15LaxativesPhase 2520
16Calcium, DietaryPhase 25525
17Atorvastatin CalciumPhase 2743134523-03-8
18Anticholesteremic AgentsPhase 21983
19Analgesics, Non-NarcoticPhase 26260
20AnalgesicsPhase 211287
21Anti-Inflammatory Agents, Non-SteroidalPhase 24295
22Anti-Inflammatory AgentsPhase 210355
23AntimetabolitesPhase 211774
24AntioxidantsPhase 22928
25Antirheumatic AgentsPhase 210627
26Antineoplastic Agents, PhytogenicPhase 25420
27
Creatineapproved, nutraceutical12657-00-1586
Synonyms:
((amino(Imino)methyl)(methyl)amino)acetic acid
((amino(imino)methyl)(methyl)amino)acetate
((amino(imino)methyl)(methyl)amino)acetic acid
(N-methylcarbamimidamido)acetic acid
(alpha-Methylguanido)acetate
(alpha-Methylguanido)acetic acid
(α-methylguanido)acetic acid
Cosmocair C 100
Creatin
Creatine
Creatine hydrate
Kreatin
 
Krebiozon
Methylglycocyamine
Methylguanidoacetate
Methylguanidoacetic acid
N-(Aminoiminomethyl)-N-Methyl-Glycine
N-(aminoiminomethyl)-N-methylglycine
N-Amidinosarcosine
N-Carbamimidoyl-N-methylglycine
N-Methyl-N-guanylglycine
N-[(e)-AMINO(imino)methyl]-N-methylglycine
Phosphagen
[[Amino(imino)methyl](methyl)amino]acetate
[[Amino(imino)methyl](methyl)amino]acetic acid
alpha-Methylguanidino acetic acid
28
Cholineapproved, nutraceutical14862-49-7305
Synonyms:
(2-Hydroxyethyl)trimethyl ammonium
(2-Hydroxyethyl)trimethylammonium
(beta-hydroxyethyl)trimethylammonium
2-Hydroxy-N,N,N-trimethyl-ethanaminium
2-Hydroxy-N,N,N-trimethylethanaminium
Bilineurine
Biocolina
Biocoline
Choline
Choline cation
 
Choline ion
Cholinum
Hepacholine
Hormocline
Lipotril
N,N,N-Trimethylethanol-ammonium
N,N,N-Trimethylethanolammonium
N,N,N-trimethylethanol-ammonium
N-trimethylethanolamine
Neocolina
Paresan
trimethylethanolamine
29N-Methylaspartate104
30Aspartic AcidNutraceutical104

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic ParaplegiaActive, not recruitingNCT02604186Phase 2, Phase 3
2Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5Active, not recruitingNCT02314208Phase 2
3Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral SclerosisCompletedNCT00023075
4Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31RecruitingNCT02859428
5Phenotype, Genotype & Biomarkers in ALS and Related DisordersRecruitingNCT02327845
6Genetic and Physical Study of Childhood Nerve and Muscle DisordersRecruitingNCT01568658
7Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
8A Patient Centric Motor Neuron Disease Activities of Daily Living ScaleNot yet recruitingNCT02852278

Search NIH Clinical Center for Hereditary Spastic Paraplegia


Cochrane evidence based reviews: spastic paraplegia, hereditary

Genetic Tests for Hereditary Spastic Paraplegia

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Genetic tests related to Hereditary Spastic Paraplegia:

id Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia26 24

Anatomical Context for Hereditary Spastic Paraplegia

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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

35
Testes, Brain, Retina, Eye, Spinal cord, Cerebellum, Bone

Animal Models for Hereditary Spastic Paraplegia or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.3AFG3L2, ALS2, GALC, HSPD1, KATNB1, KIF1A
2MP:00053897.2BSCL2, CYP7B1, DDHD1, HSPD1, KATNB1, L1CAM
3MP:00053787.1AFG3L2, ALS2, BSCL2, GALC, HSPD1, KATNB1
4MP:00053866.8AFG3L2, ALS2, ATL1, BSCL2, CYP7B1, GALC

Publications for Hereditary Spastic Paraplegia

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Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 528)
idTitleAuthorsYear
1
Clinical and genetic study of hereditary spastic paraplegia in Canada. (27957547)
2017
2
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. (27217339)
2016
3
A novel SPAST frameshift mutation in a Chinese family with hereditary spastic paraplegia. (27629539)
2016
4
Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient. (27789400)
2016
5
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. (27679996)
2016
6
Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia. (24973568)
2014
7
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A. (24908668)
2014
8
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients. (23443022)
2013
9
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). (23486545)
2013
10
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
11
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
12
SPAST mutations in Australian patients with hereditary spastic paraplegia. (23252998)
2012
13
Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. (21546041)
2011
14
Bladder dysfunction in hereditary spastic paraplegia: what to expect? (19726407)
2010
15
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (20039086)
2010
16
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. (19735987)
2010
17
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. (20200447)
2010
18
MR imaging findings in autosomal recessive hereditary spastic paraplegia. (19193756)
2009
19
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (19439420)
2009
20
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. (19652243)
2009
21
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. (18191948)
2008
22
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. (17895902)
2007
23
Variable and tissue-specific subunit composition of mitochondrial m- AAA protease complexes linked to hereditary spastic paraplegia. (17101804)
2007
24
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. (16682546)
2006
25
Methylphenidate fails to improve gait and muscle tone in patients with sporadic and hereditary spastic paraplegia. (16705687)
2006
26
Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. (16647881)
2006
27
Hereditary spastic paraplegia associated with dopa-responsive parkinsonism. (16463348)
2006
28
Motor activation in SPG4-linked hereditary spastic paraplegia. (16571355)
2006
29
Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? (16036421)
2005
30
Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset. (16138254)
2005
31
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. (15248095)
2004
32
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. (14506257)
2003
33
Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. (12163196)
2002
34
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. (12112072)
2002
35
Hereditary spastic paraplegia. (12512341)
2002
36
Spastin gene mutation in Japanese with hereditary spastic paraplegia. (12161613)
2002
37
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. (12134148)
2002
38
A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. (12202986)
2002
39
Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology. (11666018)
2001
40
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. (11471175)
2001
41
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. (11389484)
2001
42
Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum. (10987381)
2000
43
Management of spasticity in hereditary spastic paraplegia. (10368840)
1999
44
Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia. (10232750)
1999
45
Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast. (10453730)
1999
46
Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia. (10499202)
1999
47
Hereditary spastic paraplegia: report of two siblings. (9599901)
1998
48
Pure hereditary spastic paraplegia. (9192272)
1997
49
Hereditary spastic paraplegia and Evans's syndrome. (8819560)
1996
50
Pattern visual evoked responses in hereditary spastic paraplegia. (7217977)
1981

Variations for Hereditary Spastic Paraplegia

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Clinvar genetic disease variations for Hereditary Spastic Paraplegia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KIF1ANM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu)SNVPathogenicrs786200949GRCh37Chr 2, 241727625: 241727625

Copy number variations for Hereditary Spastic Paraplegia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
114496423214218332236210DeletionSPASThereditary spastic paraplegia

Expression for genes affiliated with Hereditary Spastic Paraplegia

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

Pathways for genes affiliated with Hereditary Spastic Paraplegia

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GO Terms for genes affiliated with Hereditary Spastic Paraplegia

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

idNameGO IDScoreTop Affiliating Genes
1m-AAA complexGO:000574510.6AFG3L2, SPG7
2axon cytoplasmGO:190411510.4KIF1A, SPAST, SPG7
3midbodyGO:00304969.9KATNB1, SPAST, SPG20
4axonGO:00304249.0ALS2, ATL1, KATNB1, KIF1A, ZFYVE27
5microtubuleGO:00058748.4DNAH8, KATNB1, KIF1A, KIF5A, SPAST

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

idNameGO IDScoreTop Affiliating Genes
1anterograde axonal transportGO:000808910.3KIF1A, SPAST, SPG7
2positive regulation of microtubule depolymerizationGO:003111710.2KATNB1, SPAST
3microtubule severingGO:005101310.2KATNB1, SPAST
4lipid particle organizationGO:00343899.9BSCL2, SPG20
5neuromuscular junction developmentGO:00075289.9AFG3L2, ALS2
6axonogenesisGO:00074099.4AFG3L2, ALS2, ATL1, SPAST

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

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent peptidase activityGO:000417610.5AFG3L2, SPG7
2microtubule-severing ATPase activityGO:000856810.4KATNB1, SPAST
3microtubule bindingGO:00080179.3KATNB1, KIF1A, KIF5A, SPAST
4ATPase activityGO:00168879.1DNAH8, HSPD1, KIF1A
5unfolded protein bindingGO:00510828.8AFG3L2, HSPD1, SPG7
6ATP bindingGO:00055247.8AFG3L2, DNAH8, HSPD1, KIF1A, KIF5A, SPAST

Sources for Hereditary Spastic Paraplegia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet