FSP
MCID: HRD010
MIFTS: 63

Hereditary Spastic Paraplegia (FSP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Eye diseases categories

Summaries for Hereditary Spastic Paraplegia

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NINDS:43 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 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 familial spastic paraplegia, is related to spastic paraplegia 3a and paraplegia, and has symptoms including hypertonia, gait disturbance and hemiplegia/hemiparesis. An important gene associated with Hereditary Spastic Paraplegia is KIAA0196 (KIAA0196). Affiliated tissues include brain, spinal cord and eye, and related mouse phenotype behavior/neurological.

Disease Ontology:9 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.

NIH Rare Diseases:42 Hereditary spastic paraplegia 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 leading to difficulty walking.  as degeneration continues, symptoms worsen.  last updated: 1/31/2013

Wikipedia:64 Hereditary Spastic Paraplegia (HSP), also known as Hereditary Spastic Paraparesis, Familial Spastic... more...

Descriptions from OMIM:46 612539, 312920, 270685, 605280, 270800 600363, 182600, 613206, 607259, 604187, 612020, 270700, 604360, 610244, 613647, 610250, 603563, 275900, 182601 more

GeneReviews summary for hsp

Aliases & Classifications for Hereditary Spastic Paraplegia

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Hereditary Spastic Paraplegia, Aliases & Descriptions:

Name: Hereditary Spastic Paraplegia 31 9 20 42 21 23 43
Familial Spastic Paraplegia 9 20
Hereditary Spastic Paraparesis 20
Spastic Paraplegia, Hereditary 61
Spastic Paraplegia Hereditary 44
 
Familial Spastic Paraparesis 42
Strumpell-Lorrain Syndrome 20
Hsmn V 9
Hsp 42
Fsp 42


Classifications:



Related Diseases for Hereditary Spastic Paraplegia

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Diseases in the Spastic Paraplegia 1 family:

hereditary spastic paraplegia Spastic Paraplegia 3a
Spastic Paraplegia 4 Spastic Paraplegia 7
Spastic Paraplegia 8 Spastic Paraplegia 11
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 23 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 39
Spastic Paraplegia 51 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia 33
Spastic Paraplegia 42 Spastic Paraplegia 30
Spastic Paraplegia 48 Spastic Paraplegia 35
Spastic Paraplegia 44 Spastic Paraplegia 29, Autosomal Dominant
Spastic Paraplegia 63 Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive 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 72, Autosomal Dominant
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 46, Autosomal Recessive Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 9, Autosomal Dominant
Spastic Paraplegia 64 Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 45 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 49, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant 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/GeneDecks gene sharing:

(show top 50)    (show all 214)
idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 3a30.9ATL1, SPAST
2paraplegia30.1SPG7, SPG11, SPAST, ATL1, AFG3L2, ZFYVE27
3spasticity11.5
4troyer syndrome10.7
5neuropathy10.7
6spastic paraplegia 1110.7
7spastic paraplegia 710.7
8spastic paraplegia 410.6
9spastic paraplegia 810.6
10ataxia10.6
11lateral sclerosis10.5
12cerebritis10.5
13neuronitis10.5
14dementia10.5
15spastic paraplegia 1510.5
16spastic paraplegia 1710.5
17familial spastic paralysis10.5
18amyotrophic lateral sclerosis10.4
19hereditary ataxia10.4
20axonal neuropathy10.4
21peripheral neuropathy10.4
22spastic paraplegia 210.4
23mast syndrome10.4
24spg11-related hereditary spastic paraplegia with thin corpus callosum10.4
25cataract10.3
26multiple sclerosis10.3
27machado-joseph disease10.3
28spastic diplegia10.3
29l1 syndrome10.3
30spastic paraplegia 110.3
31mental retardation10.3
32neuropathy, hereditary sensory, with spastic paraplegia10.3
33spastic paraplegia 5a, autosomal recessive10.3
34spastic paraplegia 3a, autosomal dominant10.3
35spastic paraplegia 7, autosomal recessive10.3
36spastic paraplegia 2, x-linked10.3
37amyotrophic lateral sclerosis type 1410.3SPAST
38leukemia10.3
39addison's disease10.2
40restless legs syndrome10.2
41microcephaly10.2
42adrenomyeloneuropathy10.2
43tremor10.2
44arthritis10.2
45colorectal cancer10.2
46henoch-schoenlein purpura10.2
47ischemia10.2
48purpura10.2
49adrenoleukodystrophy10.2
50cerebellar ataxia10.2

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

Drugs & Therapeutics for Hereditary Spastic Paraplegia

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Drug clinical trials:

Search ClinicalTrials for Hereditary Spastic Paraplegia

Search NIH Clinical Center for Hereditary Spastic Paraplegia

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 Paraplegia21 23

Anatomical Context for Hereditary Spastic Paraplegia

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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

32
Brain, Spinal cord, Eye, Retina, Testes, Cerebellum

Animal Models for Hereditary Spastic Paraplegia or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.2KIF5A, AFG3L2, ATL1, SPAST, SPG7

Publications for Hereditary Spastic Paraplegia

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Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 427)
idTitleAuthorsYear
1
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. (25315759)
2014
2
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. (24824479)
2014
3
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients. (23443022)
2013
4
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. (23085305)
2013
5
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. (23233086)
2013
6
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
7
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
8
SPAST mutations in Australian patients with hereditary spastic paraplegia. (23252998)
2012
9
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. (20718791)
2011
10
Bladder dysfunction in hereditary spastic paraplegia: what to expect? (19726407)
2010
11
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (20039086)
2010
12
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. (19735987)
2010
13
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. (20200447)
2010
14
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (19034539)
2009
15
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. (19917823)
2009
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
Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. (19781397)
2009
20
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. (18191948)
2008
21
Are patients with hereditary spastic paraplegia different from patients with spastic diplegia during walking? Gait evaluation using 3D gait analysis. (17509240)
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
Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? (16036421)
2005
25
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. (15711826)
2005
26
Objective assessment of gait after intrathecal baclofen in hereditary spastic paraplegia. (15765194)
2005
27
The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules. (15823537)
2005
28
Gait analysis of sporadic and hereditary spastic paraplegia. (15164190)
2004
29
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. (15248095)
2004
30
Hereditary spastic paraplegia with frontal lobe dysfunction: a clinicopathologic study. (15596767)
2004
31
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). (14732628)
2004
32
Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. (12960222)
2003
33
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. (14506257)
2003
34
Hereditary spastic paraplegia: clues from a rare disorder for a common problem? (12938737)
2003
35
Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. (12163196)
2002
36
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. (12112072)
2002
37
Hereditary spastic paraplegia. (12512341)
2002
38
Spastin gene mutation in Japanese with hereditary spastic paraplegia. (12161613)
2002
39
Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology. (11666018)
2001
40
Hereditary spastic paraplegia caused by mutations in the SPG4 gene. (11039577)
2000
41
Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum. (10987381)
2000
42
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. (9973294)
1999
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: report of two siblings. (9599901)
1998
46
Pure hereditary spastic paraplegia. (9192272)
1997
47
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. (8780101)
1996
48
Hereditary spastic paraplegia and Evans's syndrome. (8819560)
1996
49
A quantitative study of sensory function in hereditary spastic paraplegia. (2364265)
1990
50
Quantitation of Meissner's corpuscles in hereditary neurologic disorders. Charcot-Marie-Tooth disease, Roussy-Levy syndrome, Dejerine-Sottas disease, hereditary sensory neuropathy, spinocerebellar degenerations, and hereditary spastic paraplegia. (5948001)
1966

Variations for Hereditary Spastic Paraplegia

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Expression for genes affiliated with Hereditary Spastic Paraplegia

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LifeMap Discovery
Genes differentially expressed in tissues of Hereditary Spastic Paraplegia patients vs. healthy controls: 31 (show all 217)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1NRAPnebulin-related anchoring proteinSkeletal Muscle-2.050.000
2NEAT1nuclear paraspeckle assembly transcript 1 (non-protein coding)Skeletal Muscle-1.800.000
3SEMA3Csema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3CSkeletal Muscle-1.800.000
4YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilonSkeletal Muscle-1.770.000
5SORBS1sorbin and SH3 domain containing 1Skeletal Muscle-1.740.000
6MBNL1muscleblind-like splicing regulator 1Skeletal Muscle-1.720.000
7NIPSNAP3Bnipsnap homolog 3B (C. elegans)Skeletal Muscle-1.710.000
8SERBP1SERPINE1 mRNA binding protein 1Skeletal Muscle-1.680.000
9TMEM70transmembrane protein 70Skeletal Muscle-1.660.000
10GOLGA4golgin A4Skeletal Muscle-1.620.000
11ENAHenabled homolog (Drosophila)Skeletal Muscle-1.580.000
12MED16mediator complex subunit 16Skeletal Muscle+1.580.000
13RSL24D1ribosomal L24 domain containing 1Skeletal Muscle-1.570.000
14RDXradixinSkeletal Muscle-1.540.000
15MCL1myeloid cell leukemia 1Skeletal Muscle-1.530.000
16FAM126Afamily with sequence similarity 126, member ASkeletal Muscle-1.530.000
17PTPLAprotein tyrosine phosphatase-like (proline instead of catalytic arginine), member ASkeletal Muscle-1.530.000
18SRRM2serine/arginine repetitive matrix 2Skeletal Muscle+1.520.000
19ITGB6integrin, beta 6Skeletal Muscle-1.520.000
20CD36CD36 molecule (thrombospondin receptor)Skeletal Muscle-1.500.000
21USP2ubiquitin specific peptidase 2Skeletal Muscle+1.500.000
22SAR1Bsecretion associated, Ras related GTPase 1BSkeletal Muscle-1.480.000
23RMDN1regulator of microtubule dynamics 1Skeletal Muscle-1.470.000
24VPS13Cvacuolar protein sorting 13 homolog C (S. cerevisiae)Skeletal Muscle-1.470.000
25PAFAH1B1platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)Skeletal Muscle-1.460.000
26EIF1AYeukaryotic translation initiation factor 1A, Y-linkedSkeletal Muscle-1.450.000
27SLC38A2solute carrier family 38, member 2Skeletal Muscle-1.440.000
28PJA2praja ring finger 2, E3 ubiquitin protein ligaseSkeletal Muscle-1.430.000
29TPRKBTP53RK binding proteinSkeletal Muscle-1.430.000
30PFDN4prefoldin subunit 4Skeletal Muscle-1.420.000
31ARPP19cAMP-regulated phosphoprotein, 19kDaSkeletal Muscle-1.420.000
32CD164CD164 molecule, sialomucinSkeletal Muscle-1.420.000
33N4BP2L2NEDD4 binding protein 2-like 2Skeletal Muscle-1.420.000
34CFL2cofilin 2 (muscle)Skeletal Muscle-1.400.000
35SUCLA2succinate-CoA ligase, ADP-forming, beta subunitSkeletal Muscle-1.390.000
36UBXN4UBX domain protein 4Skeletal Muscle-1.390.000
37NAA50N(alpha)-acetyltransferase 50, NatE catalytic subunitSkeletal Muscle-1.390.000
38MAD1L1MAD1 mitotic arrest deficient-like 1 (yeast)Skeletal Muscle+1.370.000
39HSDL2hydroxysteroid dehydrogenase like 2Skeletal Muscle-1.350.000
40ALDH1A1aldehyde dehydrogenase 1 family, member A1Skeletal Muscle-1.350.000
41RPS27Lribosomal protein S27-likeSkeletal Muscle-1.350.000
42C8orf59chromosome 8 open reading frame 59Skeletal Muscle-1.340.000
43MTUS1microtubule associated tumor suppressor 1Skeletal Muscle-1.340.000
44CAB39calcium binding protein 39Skeletal Muscle-1.340.000
45SLC16A1solute carrier family 16 (monocarboxylate transporter), member 1Skeletal Muscle-1.330.000
46ACSL3acyl-CoA synthetase long-chain family member 3Skeletal Muscle-1.320.000
47RAB18RAB18, member RAS oncogene familySkeletal Muscle-1.320.000
48PRDX3peroxiredoxin 3Skeletal Muscle-1.320.000
49TM6SF1transmembrane 6 superfamily member 1Skeletal Muscle-1.320.000
50PKIAprotein kinase (cAMP-dependent, catalytic) inhibitor alphaSkeletal Muscle-1.310.000
51DICER1dicer 1, ribonuclease type IIISkeletal Muscle-1.300.000
52PPP1CBprotein phosphatase 1, catalytic subunit, beta isozymeSkeletal Muscle-1.300.000
53DLATdihydrolipoamide S-acetyltransferaseSkeletal Muscle-1.300.000
54SEPT2septin 2Skeletal Muscle-1.290.000
55IMPA1inositol(myo)-1(or 4)-monophosphatase 1Skeletal Muscle-1.290.000
56TMEM126Atransmembrane protein 126ASkeletal Muscle-1.290.000
57DUSP7dual specificity phosphatase 7Skeletal Muscle+1.290.000
58RRADRas-related associated with diabetesSkeletal Muscle+1.290.000
59TOB2transducer of ERBB2, 2Skeletal Muscle+1.290.000
60CAPZA2capping protein (actin filament) muscle Z-line, alpha 2Skeletal Muscle-1.290.000
61ARG2arginase 2Skeletal Muscle+1.290.000
62TTNtitinSkeletal Muscle-1.280.000
63PTS6-pyruvoyltetrahydropterin synthaseSkeletal Muscle-1.280.000
64AP5M1adaptor-related protein complex 5, mu 1 subunitSkeletal Muscle-1.270.000
65SLMAPsarcolemma associated proteinSkeletal Muscle-1.270.000
66ACTR2ARP2 actin-related protein 2 homolog (yeast)Skeletal Muscle-1.270.000
67LUMlumicanSkeletal Muscle-1.260.000
68EIF4E3eukaryotic translation initiation factor 4E family member 3Skeletal Muscle-1.260.000
69NRP1neuropilin 1Skeletal Muscle-1.260.000
70RNF6ring finger protein (C3H2C3 type) 6Skeletal Muscle-1.260.000
71PRPF4Bpre-mRNA processing factor 4BSkeletal Muscle-1.250.000
72TEAD1TEA domain family member 1 (SV40 transcriptional enhancer factor)Skeletal Muscle-1.250.000
73TMEM38Btransmembrane protein 38BSkeletal Muscle-1.250.000
74PDE4DIPphosphodiesterase 4D interacting proteinSkeletal Muscle-1.250.000
75ATRXalpha thalassemia/mental retardation syndrome X-linkedSkeletal Muscle-1.250.000
76TCF25transcription factor 25 (basic helix-loop-helix)Skeletal Muscle+1.240.000
77FOXN3forkhead box N3Skeletal Muscle-1.240.000
78DSTdystoninSkeletal Muscle-1.240.000
79SYNPO2synaptopodin 2Skeletal Muscle-1.240.000
80MICU2mitochondrial calcium uptake 2Skeletal Muscle-1.240.000
81MGC16275uncharacterized protein MGC16275Skeletal Muscle+1.240.000
82SGCBsarcoglycan, beta (43kDa dystrophin-associated glycoprotein)Skeletal Muscle-1.240.000
83MOCS2molybdenum cofactor synthesis 2Skeletal Muscle-1.230.000
84RANBP2RAN binding protein 2Skeletal Muscle-1.230.000
85NRIP1nuclear receptor interacting protein 1Skeletal Muscle-1.230.000
86RB1CC1RB1-inducible coiled-coil 1Skeletal Muscle-1.230.000
87BAG2BCL2-associated athanogene 2Skeletal Muscle-1.230.000
88LARP4La ribonucleoprotein domain family, member 4Skeletal Muscle-1.220.000
89LRRC39leucine rich repeat containing 39Skeletal Muscle-1.220.000
90PANK3pantothenate kinase 3Skeletal Muscle-1.220.000
91NNTnicotinamide nucleotide transhydrogenaseSkeletal Muscle-1.220.000
92EIF5eukaryotic translation initiation factor 5Skeletal Muscle-1.220.000
93RAD23BRAD23 homolog B (S. cerevisiae)Skeletal Muscle-1.220.000
94TM9SF2transmembrane 9 superfamily member 2Skeletal Muscle-1.210.000
95PRRX1paired related homeobox 1Skeletal Muscle-1.210.000
96PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent, 1BSkeletal Muscle-1.200.000
97RWDD1RWD domain containing 1Skeletal Muscle-1.200.000
98FAM120Afamily with sequence similarity 120ASkeletal Muscle-1.200.000
99EIF3Aeukaryotic translation initiation factor 3, subunit ASkeletal Muscle-1.190.000
100COMMD8COMM domain containing 8Skeletal Muscle-1.190.000
101PEX2peroxisomal biogenesis factor 2Skeletal Muscle-1.190.000
102ARHGAP5Rho GTPase activating protein 5Skeletal Muscle-1.190.000
103AKR7A2aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)Skeletal Muscle+1.190.000
104CLOCKclock circadian regulatorSkeletal Muscle-1.190.000
105TMEM126Btransmembrane protein 126BSkeletal Muscle-1.190.000
106SCARB2scavenger receptor class B, member 2Skeletal Muscle-1.180.000
107SCP2sterol carrier protein 2Skeletal Muscle-1.180.000
108SEC23ASec23 homolog A (S. cerevisiae)Skeletal Muscle-1.180.000
109PAIP2poly(A) binding protein interacting protein 2Skeletal Muscle-1.180.000
110LYRM5LYR motif containing 5Skeletal Muscle-1.180.000
111PPP2CAprotein phosphatase 2, catalytic subunit, alpha isozymeSkeletal Muscle-1.180.000
112XIRP2xin actin-binding repeat containing 2Skeletal Muscle-1.170.000
113DMDdystrophinSkeletal Muscle-1.170.000
114CLIP1CAP-GLY domain containing linker protein 1Skeletal Muscle-1.170.000
115ITGB1integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)Skeletal Muscle-1.170.000
116ENPP4ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)Skeletal Muscle-1.170.000
117ANTXR1anthrax toxin receptor 1Skeletal Muscle-1.170.000
118CD46CD46 molecule, complement regulatory proteinSkeletal Muscle-1.160.000
119ITGAVintegrin, alpha VSkeletal Muscle-1.160.000
120OIP5-AS1OIP5 antisense RNA 1Skeletal Muscle-1.160.000
121NR2F6nuclear receptor subfamily 2, group F, member 6Skeletal Muscle+1.160.000
122PTPN11protein tyrosine phosphatase, non-receptor type 11Skeletal Muscle-1.150.000
123UBR5ubiquitin protein ligase E3 component n-recognin 5Skeletal Muscle-1.150.000
124ERBB2IPerbb2 interacting proteinSkeletal Muscle-1.150.000
125GOLIM4golgi integral membrane protein 4Skeletal Muscle-1.150.000
126PTP4A1protein tyrosine phosphatase type IVA, member 1Skeletal Muscle-1.150.000
127HES1hes family bHLH transcription factor 1Skeletal Muscle+1.150.000
128RMND5Arequired for meiotic nuclear division 5 homolog A (S. cerevisiae)Skeletal Muscle-1.150.000
129TMEM47transmembrane protein 47Skeletal Muscle-1.150.000
130FBXO3F-box protein 3Skeletal Muscle-1.140.000
131HIGD1AHIG1 hypoxia inducible domain family, member 1ASkeletal Muscle-1.140.000
132LACTB2lactamase, beta 2Skeletal Muscle-1.140.000
133ARHGEF12Rho guanine nucleotide exchange factor (GEF) 12Skeletal Muscle-1.140.000
134SDHCsuccinate dehydrogenase complex, subunit C, integral membrane protein, 15kDaSkeletal Muscle-1.140.000
135COX7Bcytochrome c oxidase subunit VIIbSkeletal Muscle-1.140.000
136HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1Skeletal Muscle-1.140.000
137SLC25A46solute carrier family 25, member 46Skeletal Muscle-1.140.000
138CANXcalnexinSkeletal Muscle-1.140.000
139RAB21RAB21, member RAS oncogene familySkeletal Muscle-1.140.000
140CALD1caldesmon 1Skeletal Muscle-1.130.000
141CLIC5chloride intracellular channel 5Skeletal Muscle-1.130.000
142ANKRD28ankyrin repeat domain 28Skeletal Muscle-1.130.000
143FAM198Bfamily with sequence similarity 198, member BSkeletal Muscle-1.130.000
144LRPPRCleucine-rich pentatricopeptide repeat containingSkeletal Muscle-1.130.000
145C10orf32chromosome 10 open reading frame 32Skeletal Muscle-1.130.000
146RHOQras homolog family member QSkeletal Muscle-1.130.000
147CLASP2cytoplasmic linker associated protein 2Skeletal Muscle-1.130.000
148RPRD1Aregulation of nuclear pre-mRNA domain containing 1ASkeletal Muscle-1.130.000
149TFEBtranscription factor EBSkeletal Muscle+1.120.000
150EEA1early endosome antigen 1Skeletal Muscle-1.120.000
151LPIN1lipin 1Skeletal Muscle-1.120.000
152SCOCshort coiled-coil proteinSkeletal Muscle-1.120.000
153PHKBphosphorylase kinase, betaSkeletal Muscle-1.120.000
154GSPT1G1 to S phase transition 1Skeletal Muscle-1.110.000
155NDUFAF5NADH dehydrogenase (ubiquinone) complex I, assembly factor 5Skeletal Muscle-1.110.000
156RABEP1rabaptin, RAB GTPase binding effector protein 1Skeletal Muscle-1.110.000
157QKIQKI, KH domain containing, RNA bindingSkeletal Muscle-1.110.000
158IFNGR1interferon gamma receptor 1Skeletal Muscle-1.110.000
159NEMFnuclear export mediator factorSkeletal Muscle-1.110.000
160SLC25A36solute carrier family 25 (pyrimidine nucleotide carrier ), member 36Skeletal Muscle-1.110.000
161VPS29vacuolar protein sorting 29 homolog (S. cerevisiae)Skeletal Muscle-1.110.000
162HDDC2HD domain containing 2Skeletal Muscle-1.110.000
163SUB1SUB1 homolog (S. cerevisiae)Skeletal Muscle-1.110.000
164ACYP2acylphosphatase 2, muscle typeSkeletal Muscle-1.100.000
165NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5Skeletal Muscle-1.100.000
166KPNA1karyopherin alpha 1 (importin alpha 5)Skeletal Muscle-1.100.000
167LMBRD2LMBR1 domain containing 2Skeletal Muscle-1.100.000
168HSPH1heat shock 105kDa/110kDa protein 1Skeletal Muscle-1.100.000
169FAM3Cfamily with sequence similarity 3, member CSkeletal Muscle-1.100.000
170LIMCH1LIM and calponin homology domains 1Skeletal Muscle-1.100.000
171LYPLA1lysophospholipase ISkeletal Muscle-1.100.000
172ROCK2Rho-associated, coiled-coil containing protein kinase 2Skeletal Muscle-1.100.000
173DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedSkeletal Muscle-1.100.000
174SGCDsarcoglycan, delta (35kDa dystrophin-associated glycoprotein)Skeletal Muscle-1.100.000
175MLF1myeloid leukemia factor 1Skeletal Muscle-1.090.000
176EIF3Meukaryotic translation initiation factor 3, subunit MSkeletal Muscle-1.090.000
177COPS2COP9 signalosome subunit 2Skeletal Muscle-1.090.000
178DNAJA4DnaJ (Hsp40) homolog, subfamily A, member 4Skeletal Muscle-1.090.000
179KRCC1lysine-rich coiled-coil 1Skeletal Muscle-1.090.000
180ARL1ADP-ribosylation factor-like 1Skeletal Muscle-1.090.000
181DNAJB4DnaJ (Hsp40) homolog, subfamily B, member 4Skeletal Muscle-1.090.000
182METTL5methyltransferase like 5Skeletal Muscle-1.090.000
183MDFICMyoD family inhibitor domain containingSkeletal Muscle-1.090.000
184AZIN1antizyme inhibitor 1Skeletal Muscle-1.080.000
185IPO5importin 5Skeletal Muscle-1.080.000
186CCDC53coiled-coil domain containing 53Skeletal Muscle-1.080.000
187PREPLprolyl endopeptidase-likeSkeletal Muscle-1.080.000
188SOS2son of sevenless homolog 2 (Drosophila)Skeletal Muscle-1.080.000
189HIPK3homeodomain interacting protein kinase 3Skeletal Muscle-1.080.000
190UCHL5ubiquitin carboxyl-terminal hydrolase L5Skeletal Muscle-1.080.000
191AKAP11A kinase (PRKA) anchor protein 11Skeletal Muscle-1.080.000
192SPAG9sperm associated antigen 9Skeletal Muscle-1.080.000
193GOLGA8Agolgin A8 family, member ASkeletal Muscle-1.080.000
194RAP1ARAP1A, member of RAS oncogene familySkeletal Muscle-1.080.000
195SYPL1synaptophysin-like 1Skeletal Muscle-1.080.000
196PHTF2putative homeodomain transcription factor 2Skeletal Muscle-1.070.000
197RAB4ARAB4A, member RAS oncogene familySkeletal Muscle-1.070.000
198UBR3ubiquitin protein ligase E3 component n-recognin 3 (putative)Skeletal Muscle-1.070.000
199PDCD10programmed cell death 10Skeletal Muscle-1.070.000
200AGLamylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseSkeletal Muscle-1.070.000
201USP15ubiquitin specific peptidase 15Skeletal Muscle-1.070.000
202HLA-DPB1major histocompatibility complex, class II, DP beta 1Skeletal Muscle+1.070.000
203PHACTR2phosphatase and actin regulator 2Skeletal Muscle-1.070.000
204MBNL2muscleblind-like splicing regulator 2Skeletal Muscle-1.070.000
205NUCKS1nuclear casein kinase and cyclin-dependent kinase substrate 1Skeletal Muscle-1.070.000
206PRRC2Cproline-rich coiled-coil 2CSkeletal Muscle-1.070.000
207ATP8A1ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1Skeletal Muscle-1.070.000
208PRKAR1Aprotein kinase, cAMP-dependent, regulatory, type I, alphaSkeletal Muscle-1.070.000
209MED21mediator complex subunit 21Skeletal Muscle-1.060.000
210G3BP2GTPase activating protein (SH3 domain) binding protein 2Skeletal Muscle-1.060.000
211SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2Skeletal Muscle-1.060.000
212KLF12Kruppel-like factor 12Skeletal Muscle-1.050.000
213TXNDC9thioredoxin domain containing 9Skeletal Muscle-1.050.000
214FAM210Afamily with sequence similarity 210, member ASkeletal Muscle-1.050.000
215MT1Xmetallothionein 1XSkeletal Muscle+1.020.000
216H1FXH1 histone family, member XSkeletal Muscle+1.010.000
217CUEDC1CUE domain containing 1Skeletal Muscle+1.010.000

Expression patterns in normal tissues for genes affiliated with Hereditary Spastic Paraplegia

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Pathways for genes affiliated with Hereditary Spastic Paraplegia

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Compounds 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:0057689.7KIAA0196, SPAST
2axonGO:0304249.4ZFYVE27, ATL1
3cytoplasmic vesicleGO:0314109.2SPG11, SPAST
4endoplasmic reticulumGO:0057839.2ZFYVE27, ATL1, SPAST
5integral component of membraneGO:0160217.0NIPA1, ZFYVE27, AFG3L2, ATL1, SPAST, SPG11

Biological processes related to Hereditary Spastic Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homooligomerizationGO:0512609.6ATL1, SPAST
2axonogenesisGO:0074098.9AFG3L2, ATL1, SPAST
3cell deathGO:0082196.0NIPA1, SPG7, SPG11, SPAST, ATL1, AFG3L2

Molecular functions related to Hereditary Spastic Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:0171119.6AFG3L2, SPG7
2microtubule bindingGO:0080179.5KIF5A, SPAST
3unfolded protein bindingGO:0510829.5AFG3L2, SPG7
4metalloendopeptidase activityGO:0042229.3AFG3L2, SPG7
5ATP bindingGO:0055248.7SPG7, SPAST, AFG3L2, KIF5A
6protein bindingGO:0055157.1KIF5A, SPG7, SPG11, SPAST, ATL1, AFG3L2

Products for genes affiliated with Hereditary Spastic Paraplegia

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Sources for Hereditary Spastic Paraplegia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet