MCID: HRD010
MIFTS: 68

Hereditary Spastic Paraplegia

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

Aliases & Classifications for Hereditary Spastic Paraplegia

MalaCards integrated aliases for Hereditary Spastic Paraplegia:

Name: Hereditary Spastic Paraplegia 37 12 72 72 23 49 50 36 28 14
Hereditary Spastic Paraparesis 12 23
Familial Spastic Paraplegia 12 23
Spastic Paraplegia 3, Autosomal Dominant 69
Spastic Paraplegia, Hereditary 69
Spastic Paraplegia Hereditary 51
Spastic Paraplegia, Familial 72
Familial Spastic Paraparesis 49
Strumpell-Lorrain Syndrome 23
French Settlement Disease 12
Strumpell-Lorrain Disease 12
Fsp 49
Hsp 49

Classifications:



External Ids:

Disease Ontology 12 DOID:2476
ICD10 32 G11.4
ICD9CM 34 334.1
KEGG 36 H00266

Summaries for Hereditary Spastic Paraplegia

NINDS : 50 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 spastic paraplegia 2, x-linked and spastic paraplegia 3, autosomal dominant, and has symptoms including ataxia, spasticity and gait disturbance. An important gene associated with Hereditary Spastic Paraplegia is SPAST (Spastin), and among its related pathways/superpathways is Endocytosis. The drugs Acetylcholine and Botulinum Toxins have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and spinal cord, and related phenotypes are behavior/neurological and growth/size/body region

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

NIH Rare Diseases : 49 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

GeneReviews: NBK1509

Related Diseases for Hereditary Spastic Paraplegia

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
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 187)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 2, x-linked 34.2 ATL1 PLP1 ZFYVE27
2 spastic paraplegia 3, autosomal dominant 34.2 ATL1 NIPA1 SPAST SPG11 ZFYVE27
3 spastic paraplegia 4, autosomal dominant 34.2 ATL1 NIPA1 SPAST SPG11 SPG7 ZFYVE27
4 spastic paraplegia 31, autosomal dominant 34.2 ATL1 SPAST ZFYVE27
5 spastic paraplegia 18, autosomal recessive 34.1 NIPA1 WASHC5
6 spastic paraplegia 6, autosomal dominant 34.1 ATL1 KIF5A NIPA1 SPAST
7 spastic paraplegia 8, autosomal dominant 34.1 ATL1 NIPA1 SPG11 WASHC5
8 spastic paraplegia 13, autosomal dominant 34.1 ATL1 HSPD1 SPAST WASHC5
9 spastic paraplegia 15, autosomal recessive 34.1 SPG11 SPG7 ZFYVE26
10 spastic paraplegia 10, autosomal dominant 34.1 ATL1 KIF5A SPG11 ZFYVE27
11 spastic paraplegia 57, autosomal recessive 34.1 ALS2 SPG11
12 masa syndrome 34.1 ATL1 NIPA1 SPAST SPG11
13 spastic paraplegia 48, autosomal recessive 34.1 SPG11 ZFYVE26
14 spastic paraplegia 24, autosomal recessive 34.0 CYP7B1 SPG7
15 spastic paraplegia 32, autosomal recessive 33.9 ATL1 SPG11 SPG7
16 spastic paraplegia 42, autosomal dominant 33.9 NIPA1 WASHC5
17 spastic paraplegia 30, autosomal recessive 33.9 KIF1A WASHC5
18 spastic paraplegia 7, autosomal recessive 33.9 AFG3L2 CYP7B1 GBA2 KIF1A KIF5A KY
19 spastic paraplegia 12, autosomal dominant 33.9 ATL1 KIF5A SPAST ZFYVE27
20 spastic paraplegia 49, autosomal recessive 33.9 SPG11 SPG7 ZFYVE26
21 spastic paraplegia 33, autosomal dominant 33.9 SPAST ZFYVE27
22 spastic paraplegia 39, autosomal recessive 33.8 WASHC5 ZFYVE26
23 spastic paraplegia 20, autosomal recessive 33.8 CYP7B1 GBA2 KIF1A KIF5A KY NIPA1
24 spastic paraplegia 61, autosomal recessive 33.8 ATL1 SPAST
25 spasticity 33.6 DDHD1 KIF1A SPG7 WASHC5
26 spastic paraplegia 35, autosomal recessive 33.5 SPG11 ZFYVE26
27 paraplegia 32.1 ATL1 CYP7B1 DDHD1 HSPD1 KIF1A KIF5A
28 axonal neuropathy 31.2 KIF5A SPG11 ZFYVE26
29 spastic paraparesis 30.9 DDHD1 SPAST SPG11
30 hereditary spastic paraplegia 72 12.4
31 hereditary spastic paraplegia 51 12.3
32 spastic paraplegia 17, autosomal dominant 12.2
33 spastic paraplegia 11, autosomal recessive 12.1
34 spastic paraplegia 5a, autosomal recessive 12.1
35 spastic paraplegia 11 12.1
36 spastic paraplegia 26, autosomal recessive 12.1
37 spastic paraplegia 46, autosomal recessive 12.1
38 spastic paraplegia 56, autosomal recessive 12.1
39 spastic paraplegia 54, autosomal recessive 12.0
40 spastic paraplegia 45, autosomal recessive 12.0
41 spastic paraplegia 43, autosomal recessive 12.0
42 mast syndrome 12.0
43 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 12.0
44 spastic paraplegia 23 12.0
45 spastic paraplegia 19, autosomal dominant 12.0
46 spastic paraplegia 14, autosomal recessive 11.9
47 spastic paraplegia 25, autosomal recessive 11.9
48 spastic paraplegia 28, autosomal recessive 11.9
49 spastic paraplegia 29, autosomal dominant 11.9
50 spastic paraplegia 37, autosomal dominant 11.9

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 frequent (33%) HP:0001251
2 spasticity 31 hallmark (90%) HP:0001257
3 gait disturbance 31 hallmark (90%) HP:0001288
4 finger syndactyly 31 occasional (7.5%) HP:0006101
5 impaired pain sensation 31 hallmark (90%) HP:0007328
6 paraplegia 31 hallmark (90%) HP:0010550

UMLS symptoms related to Hereditary Spastic Paraplegia:


pain in lower limb, leg cramps, urgency of micturition

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 SPAST SPG11 AFG3L2 SPG7 ALS2 ZFYVE26
2 growth/size/body region MP:0005378 9.73 PLP1 SPG11 AFG3L2 SPG7 WASHC5 ALS2
3 nervous system MP:0003631 9.4 SPAST SPG11 AFG3L2 SPG7 ALS2 ZFYVE26

Drugs & Therapeutics for Hereditary Spastic Paraplegia

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
2 Botulinum Toxins Phase 2, Phase 3
3 Cholinergic Agents Phase 2, Phase 3
4 Neurotransmitter Agents Phase 2, Phase 3
5
Choline Approved, Nutraceutical 62-49-7 305
6
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
7 N-Methylaspartate
8 Aspartic Acid Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
2 Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
3 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
4 The Pre-SPG4 Study Recruiting NCT03206190
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 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Enrolling by invitation NCT02852278
9 Studying Non-motor Symptoms in SPG4 Not yet recruiting NCT03204773

Search NIH Clinical Center for Hereditary Spastic Paraplegia

Genetic Tests for Hereditary Spastic Paraplegia

Genetic tests related to Hereditary Spastic Paraplegia:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 28

Anatomical Context for Hereditary Spastic Paraplegia

MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

38
Brain, Testes, Spinal Cord, Retina, Eye, Cerebellum, Bone

Publications for Hereditary Spastic Paraplegia

Articles related to Hereditary Spastic Paraplegia:

(show top 50) (show all 574)
# Title Authors Year
1
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia. ( 29236946 )
2018
2
Differential changes in the spinal segmental locomotor output in Hereditary Spastic Paraplegia. ( 29353180 )
2018
3
POLR3A variants in hereditary spastic paraplegia and ataxia. ( 29228109 )
2018
4
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. ( 29034544 )
2018
5
A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core. ( 29180453 )
2018
6
Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia. ( 29379980 )
2018
7
Resting state fMRI studies in SPG4-linked hereditary spastic paraplegia. ( 29249364 )
2018
8
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. ( 29362493 )
2018
9
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. ( 28295203 )
2017
10
Hereditary spastic paraplegia: More than an upper motor neuron disease. ( 28449883 )
2017
11
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia. ( 28389476 )
2017
12
SPG20 mutation in three siblings with familial hereditary spastic paraplegia. ( 28679690 )
2017
13
Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia. ( 29284203 )
2017
14
Segmentation of gait sequences using inertial sensor data in hereditary spastic paraplegia. ( 29060107 )
2017
15
Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name? ( 29112699 )
2017
16
Patterns and modulations of Pendular nystagmus in a family with hereditary spastic paraplegia. ( 29246608 )
2017
17
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. ( 28716533 )
2017
18
Clinical and genetic study of hereditary spastic paraplegia in Canada. ( 27957547 )
2017
19
Novel mutations c. [453dupA] + [663G > A] of the SPG11 gene associated with hereditary spastic paraplegia with a thin corpus callosum. ( 28681766 )
2017
20
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype. ( 28626794 )
2017
21
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation. ( 29376581 )
2017
22
Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name? ( 29112700 )
2017
23
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. ( 28488683 )
2017
24
TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum. ( 28124177 )
2017
25
Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia. ( 28471471 )
2017
26
Hereditary spastic paraplegia from 1880 to 2017: an historical review. ( 29236826 )
2017
27
First patient with hereditary spastic paraplegia type 8 in Poland. ( 28878906 )
2017
28
Multigeneration family with dominant SPG30 hereditary spastic paraplegia. ( 29159194 )
2017
29
Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review. ( 28099355 )
2017
30
Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26. ( 28536081 )
2017
31
Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. ( 28884889 )
2017
32
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. ( 28572275 )
2017
33
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. ( 29126212 )
2017
34
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). ( 28137957 )
2017
35
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments. ( 28017243 )
2017
36
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. ( 28332297 )
2017
37
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. ( 28491902 )
2017
38
Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene. ( 28970574 )
2017
39
Beneficial effects of rapamycin in a Drosophila model for hereditary spastic paraplegia. ( 27909242 )
2017
40
Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients. ( 28736820 )
2017
41
Characterization of kinesin switch I mutations that cause hereditary spastic paraplegia. ( 28678816 )
2017
42
Sequential bilateral complete rupture of the rectus femoris muscle in a patient with hereditary spastic paraplegia. ( 28264543 )
2017
43
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia. ( 28158749 )
2017
44
New genetic causes for complex hereditary spastic paraplegia. ( 28716262 )
2017
45
Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia. ( 28933964 )
2017
46
Studies on truncating mutations of SPAST associated with Hereditary Spastic Paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin. ( 28495799 )
2017
47
Hereditary spastic paraplegia type 8 - neuropathological findings. ( 28181327 )
2017
48
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. ( 29096665 )
2017
49
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. ( 27738760 )
2017
50
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement. ( 27034427 )
2016

Variations for Hereditary Spastic Paraplegia

ClinVar genetic disease variations for Hereditary Spastic Paraplegia:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA2 NM_020944.2(GBA2): c.1888C> T (p.Arg630Trp) single nucleotide variant Pathogenic rs398123012 GRCh37 Chromosome 9, 35738808: 35738808
2 GBA2 NM_020944.2(GBA2): c.2618G> A (p.Arg873His) single nucleotide variant Pathogenic rs398123015 GRCh37 Chromosome 9, 35737332: 35737332
3 C19orf12 NM_001031726.3(C19orf12): c.157G> A (p.Gly53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs200133991 GRCh38 Chromosome 19, 29708290: 29708290
4 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
5 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic/Likely pathogenic rs312262720 GRCh37 Chromosome 15, 44949428: 44949429
6 NIPA1 NM_144599.4(NIPA1): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104894490 GRCh37 Chromosome 15, 23060816: 23060816
7 CYP7B1 NM_004820.4(CYP7B1): c.825T> A (p.Tyr275Ter) single nucleotide variant Pathogenic rs121908613 GRCh37 Chromosome 8, 65528273: 65528273
8 SPG7 NM_003119.3(SPG7): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic/Likely pathogenic rs562890289 GRCh37 Chromosome 16, 89611178: 89611178
9 KY NM_178554.4(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18Tyrfs) insertion Pathogenic rs1085307110 GRCh37 Chromosome 3, 134369751: 134369752
10 SPG7 NM_003119.3(SPG7): c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Pathogenic/Likely pathogenic rs768823392 GRCh38 Chromosome 16, 89546662: 89546670
11 KIF1A NM_001244008.1(KIF1A): c.31C> T (p.Arg11Trp) single nucleotide variant Pathogenic rs548204329 GRCh37 Chromosome 2, 241737139: 241737139
12 SPAST NM_014946.3(SPAST): c.1133T> A (p.Leu378Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 32352051: 32352051
13 CYP7B1 NM_004820.4(CYP7B1): c.914dup (p.Met305Ilefs) duplication Pathogenic GRCh37 Chromosome 8, 65527726: 65527726
14 KIF5A NM_004984.3(KIF5A): c.610C> T (p.Arg204Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 57567514: 57567514
15 ZFYVE26 NM_015346.3(ZFYVE26): c.6296dup (p.Asn2100Glufs) duplication Pathogenic GRCh38 Chromosome 14, 67762276: 67762276
16 SPG7 NM_003119.3(SPG7): c.376G> C (p.Glu126Gln) single nucleotide variant Pathogenic/Likely pathogenic rs912983346 GRCh37 Chromosome 16, 89579445: 89579445
17 SPG11 NM_025137.3(SPG11): c.(2244+1_2245-1)_(2620+1_2621-1)del deletion Pathogenic

Copy number variations for Hereditary Spastic Paraplegia from CNVD:

7
# 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:

# Super pathways Score Top Affiliating Genes
1 11.31 KIF5A SPART WASHC5 ZFYVE27

GO Terms for Hereditary Spastic Paraplegia

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

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.71 ALS2 KIF1A SPG11 ZFYVE27
2 neuronal cell body GO:0043025 9.67 ALS2 KIF1A KIF5A WASHC5
3 early endosome GO:0005769 9.62 ALS2 HSPD1 NIPA1 WASHC5
4 midbody GO:0030496 9.61 SPART SPAST ZFYVE26
5 axon GO:0030424 9.35 ALS2 ATL1 KIF1A SPG11 ZFYVE27
6 axon cytoplasm GO:1904115 9.33 KIF1A SPAST SPG7
7 endoplasmic reticulum tubular network GO:0071782 9.26 ATL1 ZFYVE27
8 m-AAA complex GO:0005745 8.62 AFG3L2 SPG7

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.33 AFG3L2 LONP1 SPG7
2 mitochondrial calcium ion transmembrane transport GO:0006851 9.32 AFG3L2 SPG7
3 chaperone-mediated protein complex assembly GO:0051131 9.26 HSPD1 LONP1
4 axonogenesis GO:0007409 9.26 AFG3L2 ALS2 ATL1 SPAST
5 anterograde axonal transport GO:0008089 8.8 KIF1A SPAST SPG7

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.7 AFG3L2 HSPD1 KIF1A KIF5A LONP1 SPAST
2 hydrolase activity GO:0016787 9.28 AFG3L2 ATL1 DDHD1 GBA2 HSPD1 KY
3 unfolded protein binding GO:0051082 9.13 AFG3L2 HSPD1 SPG7

Sources for Hereditary Spastic Paraplegia

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