MCID: HRD010
MIFTS: 66

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 33 11 22 46 23 47 13 25
Spastic Paraplegia 11 25 48 66
Familial Spastic Paraplegia 11 22 23
Spastic Paraplegia, Hereditary 37 66
Hereditary Spastic Paraparesis 22 23
Strumpell-Lorrain Syndrome 22 23
 
Hsp 46 23
Spastic Paraplegia Hereditary 48
Familial Spastic Paraparesis 46
Hsmn V 11
Fsp 46

Classifications:



External Ids:

Disease Ontology11 DOID:2476
ICD1028 G11.4, G82.1
ICD9CM30 334.1
MeSH37 D015419

Summaries for Hereditary Spastic Paraplegia

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NIH Rare Diseases:46 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

MalaCards based summary: Hereditary Spastic Paraplegia, also known as spastic paraplegia, 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), and among its related pathways is Endocytosis. Affiliated tissues include skeletal muscle, brain and spinal cord, and related mouse phenotypes are nervous system and growth/size/body region.

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

NINDS:47 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.

Wikipedia:69 Hereditary spastic paraplegia (HSP), also known as hereditary spastic paraparesis, familial spastic... more...

GeneReviews summary 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 51
Spastic Paraplegia 9 Spastic Paraplegia 10
Spastic Paraplegia 17 Spastic Paraplegia 5a
Spastic Paraplegia 32 Spastic Paraplegia 6
Spastic Paraplegia 18 Spastic Paraplegia 15
Spastic Paraplegia 39 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 16 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 5b
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 44 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 144)
idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 1132.7CYP7B1, KIF1A, SPG7
2spinocerebellar degeneration29.2DDHD1, KIAA0196, KIF1A, SPAST, SPG7
3spg11-related hereditary spastic paraplegia with thin corpus callosum12.0
4troyer syndrome12.0
5spastic paraplegia 711.8
6masa syndrome11.7
7spastic paraplegia 411.5
8infantile-onset ascending hereditary spastic paralysis11.5
9spastic paraplegia 811.4
10spastic paraplegia 211.4
11paraplegia11.3
12spasticity11.3
13mast syndrome11.1
14wells-jankovic syndrome11.1
15silver spastic paraplegia syndrome10.8
16spastic paraplegia 3a10.8
17spastic paraplegia 4, autosomal dominant10.7
18spastic paraplegia 5a, autosomal recessive10.7
19spastic paraplegia 3a, autosomal dominant10.7
20spastic paraplegia 11, autosomal recessive10.7
21spastic paraplegia 7, autosomal recessive10.7
22spastic paraplegia 2, x-linked10.7
23neuropathy10.5
24ataxia10.4
25lateral sclerosis10.3
26spastic paraplegia 3110.3
27dementia10.3
28cerebritis10.3
29neuronitis10.3
30spastic paraplegia 1510.2
31spastic paraplegia 5b10.2ATL1, KIF1A
32hereditary ataxia10.2
33axonal neuropathy10.2
34x-linked sideroblastic anemia with ataxia10.1ATL1, KIF1A
35spastic paraplegia 29, autosomal dominant10.1
36spastic paraplegia 6310.1
37spastic paraplegia 2310.1
38spastic paraplegia 44, autosomal recessive10.1
39spastic paraplegia 31, autosomal dominant10.1
40spastic paraplegia 13, autosomal dominant10.1
41spastic ataxia 3, autosomal recessive10.1
42spastic paraplegia 30, autosomal recessive10.1
43spastic paraplegia 57, autosomal recessive10.1
44spastic paraplegia 42, autosomal dominant10.1
45spastic paraplegia 14, autosomal recessive10.1
46spastic paraplegia 38, autosomal dominant10.1
47spastic paraplegia 56, autosomal recessive10.1
48spastic paraplegia 72, autosomal recessive10.1
49spastic paraplegia 25, autosomal recessive10.1
50spastic paraplegia 48, autosomal recessive10.1

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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HPO human phenotypes related to Hereditary Spastic Paraplegia:

(show all 6)
id Description Frequency HPO Source Accession
1 hypertonia hallmark (90%) HP:0001276
2 gait disturbance hallmark (90%) HP:0001288
3 hemiplegia/hemiparesis hallmark (90%) HP:0004374
4 impaired pain sensation hallmark (90%) HP:0007328
5 incoordination typical (50%) HP:0002311
6 finger syndactyly occasional (7.5%) HP:0006101

UMLS symptoms related to Hereditary Spastic Paraplegia:


paraparesis, spastic, paraplegia, ataxic, paraplegia, flaccid, flaccid quadriplegia, cramps of lower extremities, pain in lower limb, hyperexplexia

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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholinePhase 2, Phase 375251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2
ResveratrolPhase 2109501-36-0, 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
3
chenodeoxycholic acidPhase 228474-25-910133
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
4Atorvastatin CalciumPhase 2727134523-03-8
5
CreatineNutraceutical11057-00-1586
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
6
CholineNutraceutical14762-49-7305
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

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
5Genetic and Physical Study of Childhood Nerve and Muscle DisordersRecruitingNCT01568658
6Phenotype, Genotype & Biomarkers in ALS and Related DisordersRecruitingNCT02327845
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 Paraplegia25 23
2 Spastic Paraplegia25

Anatomical Context for Hereditary Spastic Paraplegia

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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

34
Skeletal muscle, Brain, Spinal cord, Testes, Retina, Eye, Myeloid

Animal Models for Hereditary Spastic Paraplegia or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036316.6AFG3L2, KIF1A, KIF5A, L1CAM, PLP1, REEP1
2MP:00053786.5AFG3L2, KIAA0196, KIF1A, KIF5A, L1CAM, LONP1
3MP:00053866.2AFG3L2, ATL1, CYP7B1, KIF1A, KIF5A, L1CAM

Publications for Hereditary Spastic Paraplegia

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Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 506)
idTitleAuthorsYear
1
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. (27217339)
2016
2
A novel SPAST frameshift mutation in a Chinese family with hereditary spastic paraplegia. (27629539)
2016
3
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement. (27034427)
2016
4
Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia. (24973568)
2014
5
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A. (24908668)
2014
6
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients. (23443022)
2013
7
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). (23486545)
2013
8
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
9
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
10
SPAST mutations in Australian patients with hereditary spastic paraplegia. (23252998)
2012
11
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
12
Bladder dysfunction in hereditary spastic paraplegia: what to expect? (19726407)
2010
13
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (20039086)
2010
14
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. (19735987)
2010
15
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. (20200447)
2010
16
MR imaging findings in autosomal recessive hereditary spastic paraplegia. (19193756)
2009
17
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (19439420)
2009
18
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. (19652243)
2009
19
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. (18191948)
2008
20
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. (17895902)
2007
21
Variable and tissue-specific subunit composition of mitochondrial m- AAA protease complexes linked to hereditary spastic paraplegia. (17101804)
2007
22
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. (16682546)
2006
23
Methylphenidate fails to improve gait and muscle tone in patients with sporadic and hereditary spastic paraplegia. (16705687)
2006
24
Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. (16647881)
2006
25
Hereditary spastic paraplegia associated with dopa-responsive parkinsonism. (16463348)
2006
26
Motor activation in SPG4-linked hereditary spastic paraplegia. (16571355)
2006
27
Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? (16036421)
2005
28
Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset. (16138254)
2005
29
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. (15248095)
2004
30
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. (14506257)
2003
31
Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. (12163196)
2002
32
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. (12112072)
2002
33
Hereditary spastic paraplegia. (12512341)
2002
34
Spastin gene mutation in Japanese with hereditary spastic paraplegia. (12161613)
2002
35
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. (12134148)
2002
36
A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. (12202986)
2002
37
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. (12382159)
2002
38
Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology. (11666018)
2001
39
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. (11471175)
2001
40
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. (11389484)
2001
41
Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum. (10987381)
2000
42
Management of spasticity in hereditary spastic paraplegia. (10368840)
1999
43
Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia. (10232750)
1999
44
Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast. (10453730)
1999
45
Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia. (10499202)
1999
46
Hereditary spastic paraplegia: report of two siblings. (9599901)
1998
47
Pure hereditary spastic paraplegia. (9192272)
1997
48
Hereditary spastic paraplegia and Evans's syndrome. (8819560)
1996
49
Hereditary spastic paraplegia. A diagnostic reminder. (8495827)
1993
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)single nucleotide variantPathogenicrs786200949GRCh37Chr 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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Pathways related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.4KIAA0196, KIF5A, SPG20, SPG21, ZFYVE27

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:190411510.3KIF1A, SPAST, SPG7
3midbodyGO:00304969.6SPAST, SPG20, ZFYVE26
4axonGO:00304249.4ATL1, KIF1A, SPG11, ZFYVE27
5integral component of membraneGO:00160217.0AFG3L2, ATL1, L1CAM, NIPA1, PLP1, REEP1

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

idNameGO IDScoreTop Affiliating Genes
1anterograde axonal transportGO:000808910.1KIF1A, SPAST, SPG7
2mitochondrion organizationGO:00070059.7AFG3L2, LONP1, SPG7
3axonogenesisGO:00074099.7AFG3L2, ATL1, SPAST
4protein homooligomerizationGO:00512609.6ATL1, LONP1, SPAST

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

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent peptidase activityGO:00041769.6AFG3L2, LONP1, SPG7
2microtubule bindingGO:00080179.3KIF1A, KIF5A, REEP1, SPAST

Sources for Hereditary Spastic Paraplegia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet