Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: HRD010
MIFTS: 67

Hereditary Spastic Paraplegia

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Hereditary Spastic Paraplegia

About this section

MalaCards integrated aliases for Hereditary Spastic Paraplegia:

Name: Hereditary Spastic Paraplegia 38 12 76 24 53 54 37 29 6 15
Hereditary Spastic Paraparesis 12 24
Familial Spastic Paraplegia 12 24
Spastic Paraplegia 3, Autosomal Dominant 73
Spastic Paraplegia, Hereditary 73
Spastic Paraplegia Hereditary 55
Spastic Paraplegia, Familial 76
Familial Spastic Paraparesis 53
Strumpell-Lorrain Syndrome 24
French Settlement Disease 12
Strumpell-Lorrain Disease 12
Fsp 53
Hsp 53

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Bone diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:2476
ICD10 33 G11.4
ICD9CM 35 334.1
KEGG 37 H00266
Sources

Summaries for Hereditary Spastic Paraplegia

About this section
NINDS : 54 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 20, autosomal recessive and spastic paraplegia 2, x-linked, and has symptoms including leg cramps, pain in lower limb and urgency of micturition. An important gene associated with Hereditary Spastic Paraplegia is NIPA1 (NIPA Magnesium Transporter 1), 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 spinal cord, brain and testes, and related phenotypes are ataxia and spasticity

NIH Rare Diseases : 53 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. 

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

Wikipedia : 76 Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive... more...

GeneReviews: NBK1509
Sources

Related Diseases for Hereditary Spastic Paraplegia

About this section

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 186)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 20, autosomal recessive 35.0 SPART SPG7
2 spastic paraplegia 2, x-linked 34.9 AP5Z1 ATL1 ZFYVE27
3 spastic paraplegia 3, autosomal dominant 34.8 ATL1 NIPA1 SPAST SPG11 ZFYVE27
4 spastic paraplegia 15, autosomal recessive 34.8 AP5Z1 SPG11 SPG7 ZFYVE26
5 spastic paraplegia 32, autosomal recessive 34.7 ATL1 SPG11 SPG7
6 spastic paraplegia 5a, autosomal recessive 34.7 C19orf12 CYP7B1
7 spastic paraplegia 24, autosomal recessive 34.7 CYP7B1 SPG7
8 spastic paraplegia 18, autosomal recessive 34.6 AP5Z1 NIPA1 WASHC5
9 spastic paraplegia 39, autosomal recessive 34.6 AP5Z1 WASHC5 ZFYVE26
10 spastic paraplegia 48, autosomal recessive 34.6 AP5Z1 SPG11 ZFYVE26
11 spastic paraplegia 49, autosomal recessive 34.6 SPG11 SPG7 ZFYVE26
12 spastic paraplegia 42, autosomal dominant 34.6 AP5Z1 NIPA1 WASHC5
13 masa syndrome 34.6 AP5Z1 ATL1 SPART SPAST SPG11
14 spastic paraplegia 73, autosomal dominant 34.6 CYP7B1 GBA2 SPG7
15 spastic paraplegia 31, autosomal dominant 34.6 AP5Z1 ATL1 SPAST ZFYVE27
16 spastic paraplegia 4, autosomal dominant 34.6 ATL1 NIPA1 SPAST SPG11 SPG7 ZFYVE27
17 spastic paraplegia 35, autosomal recessive 34.6 AP5Z1 SPG11 ZFYVE26
18 spastic paraplegia 30, autosomal recessive 34.6 AP5Z1 KIF1A WASHC5
19 spastic paraplegia 57, autosomal recessive 34.5 ALS2 SPG11
20 spastic paraplegia 43, autosomal recessive 34.5 C19orf12 CYP7B1
21 spastic paraplegia 44, autosomal recessive 34.5 AP5Z1 ZFYVE27
22 spastic paraplegia 8, autosomal dominant 34.5 AP5Z1 ATL1 NIPA1 SPG11 WASHC5
23 spastic paraplegia 6, autosomal dominant 34.5 AP5Z1 ATL1 KIF5A NIPA1 SPAST
24 spastic paraplegia 13, autosomal dominant 34.5 AP5Z1 ATL1 HSPD1 SPAST WASHC5
25 spastic paraplegia 12, autosomal dominant 34.5 AP5Z1 ATL1 KIF5A SPAST ZFYVE27
26 spastic paraplegia 10, autosomal dominant 34.5 AP5Z1 ATL1 KIF5A SPG11 ZFYVE27
27 spastic paraplegia 28, autosomal recessive 34.4 AP5Z1 DDHD1
28 spastic paraplegia 7, autosomal recessive 34.4 AFG3L2 SPG7
29 spastic paraplegia 61, autosomal recessive 34.3 ATL1 SPAST
30 spastic paraplegia 54, autosomal recessive 34.3 AP5Z1 DDHD1
31 spasticity 34.3 DDHD1 KIF1A SPG7 WASHC5
32 spastic paraplegia 76, autosomal recessive 34.3 CYP7B1 GBA2 SPG7
33 spastic paraplegia 33, autosomal dominant 34.2 AP5Z1 SPART SPAST ZFYVE27
34 spastic paraplegia 47, autosomal recessive 34.2 AP5Z1 WASHC5
35 spastic paraplegia 52, autosomal recessive 34.2 AP5Z1 DDHD1
36 spastic paraplegia 5a 34.1 CYP7B1 GBA2
37 paraplegia 32.4 AP5Z1 ATL1 CYP7B1 DDHD1 HSPD1 KIF1A
38 axonal neuropathy 31.8 C19orf12 KIF5A SPG11
39 spastic paraparesis 31.6 DDHD1 SPAST SPG11 SPG7
40 hereditary spastic paraplegia 72 12.4
41 hereditary spastic paraplegia 51 12.3
42 spastic paraplegia 17, autosomal dominant 12.2
43 spastic paraplegia 11, autosomal recessive 12.1
44 spastic paraplegia 11 12.1
45 spastic paraplegia 26, autosomal recessive 12.0
46 spastic paraplegia 56, autosomal recessive 12.0
47 mast syndrome 12.0
48 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 12.0
49 spastic paraplegia 23 12.0
50 spastic paraplegia 14, autosomal recessive 11.9

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



Diseases related to Hereditary Spastic Paraplegia
Sources

Symptoms & Phenotypes for Hereditary Spastic Paraplegia

About this section

Human phenotypes related to Hereditary Spastic Paraplegia:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 frequent (33%) HP:0001251
2 spasticity 32 hallmark (90%) HP:0001257
3 gait disturbance 32 hallmark (90%) HP:0001288
4 finger syndactyly 32 occasional (7.5%) HP:0006101
5 impaired pain sensation 32 hallmark (90%) HP:0007328
6 paraplegia 32 hallmark (90%) HP:0010550

UMLS symptoms related to Hereditary Spastic Paraplegia:


leg cramps, pain in lower limb, urgency of micturition

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AFG3L2 ALS2 ATL1 HSPD1 KIF1A KIF5A
2 nervous system MP:0003631 9.32 KIF5A KY SPAST SPG11 SPG7 ZFYVE26
Sources

Drugs & Therapeutics for Hereditary Spastic Paraplegia

About this section

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 Studying Cognition in SPG4 Completed NCT03104088
4 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
5 Studying Non-motor Symptoms in SPG4 Recruiting NCT03204773
6 The Pre-SPG4 Study Recruiting NCT03206190 Not Applicable
7 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
8 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
9 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Enrolling by invitation NCT02852278

Search NIH Clinical Center for Hereditary Spastic Paraplegia

Sources

Genetic Tests for Hereditary Spastic Paraplegia

About this section

Genetic tests related to Hereditary Spastic Paraplegia:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 29
Sources

Anatomical Context for Hereditary Spastic Paraplegia

About this section

MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

41
Spinal Cord, Brain, Testes, Retina, Eye, Cerebellum, Bone
Sources

Publications for Hereditary Spastic Paraplegia

About this section

Articles related to Hereditary Spastic Paraplegia:

(show top 50) (show all 599)
# Title Authors Year
1
Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia. ( 29629531 )
2018
2
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. ( 29528531 )
2018
3
Resting state fMRI studies in SPG4-linked hereditary spastic paraplegia. ( 29249364 )
2018
4
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. ( 29934652 )
2018
5
Quantification of dysarthrI?phonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation. ( 29804168 )
2018
6
A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core. ( 29180453 )
2018
7
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. ( 29034544 )
2018
8
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia. ( 29236946 )
2018
9
<i>ACO2</i> homozygous missense mutation associated with complicated hereditary spastic paraplegia. ( 29577077 )
2018
10
Hereditary spastic paraplegia. ( 29478605 )
2018
11
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. ( 29882329 )
2018
12
Anesthetic Considerations for Ivor-Lewis Esophagectomy in a Patient With Hereditary Spastic Paraplegia: A Case Report. ( 29851689 )
2018
13
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. ( 29362493 )
2018
14
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. ( 29915212 )
2018
15
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia. ( 29754261 )
2018
16
<i>CAPN1</i> mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype. ( 29678961 )
2018
17
Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia. ( 29379980 )
2018
18
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span. ( 29544888 )
2018
19
Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations. ( 29809239 )
2018
20
A novel pathogenic variant of the SPAST gene in a Spanish family with hereditary spastic paraplegia. ( 29526314 )
2018
21
POLR3A variants in hereditary spastic paraplegia and ataxia. ( 29228109 )
2018
22
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia. ( 29481671 )
2018
23
Differential changes in the spinal segmental locomotor output in Hereditary Spastic Paraplegia. ( 29353180 )
2018
24
Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests. ( 29518090 )
2018
25
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments. ( 28017243 )
2017
26
Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name? ( 29112699 )
2017
27
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia. ( 28389476 )
2017
28
Segmentation of gait sequences using inertial sensor data in hereditary spastic paraplegia. ( 29060107 )
2017
29
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. ( 28332297 )
2017
30
New genetic causes for complex hereditary spastic paraplegia. ( 28716262 )
2017
31
Characterization of kinesin switch I mutations that cause hereditary spastic paraplegia. ( 28678816 )
2017
32
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. ( 28716533 )
2017
33
First patient with hereditary spastic paraplegia type 8 in Poland. ( 28878906 )
2017
34
Multigeneration family with dominant SPG30 hereditary spastic paraplegia. ( 29159194 )
2017
35
Patterns and modulations of Pendular nystagmus in a family with hereditary spastic paraplegia. ( 29246608 )
2017
36
Sequential bilateral complete rupture of the rectus femoris muscle in a patient with hereditary spastic paraplegia. ( 28264543 )
2017
37
Hereditary spastic paraplegia: More than an upper motor neuron disease. ( 28449883 )
2017
38
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. ( 29096665 )
2017
39
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. ( 28491902 )
2017
40
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. ( 29126212 )
2017
41
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. ( 27738760 )
2017
42
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype. ( 28626794 )
2017
43
Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia. ( 28933964 )
2017
44
TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum. ( 28124177 )
2017
45
Novel mutations c. [453dupA] + [663G &amp;gt; A] of the SPG11 gene associated with hereditary spastic paraplegia with a thin corpus callosum. ( 28681766 )
2017
46
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. ( 28295203 )
2017
47
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia. ( 28158749 )
2017
48
SPG20 mutation in three siblings with familial hereditary spastic paraplegia. ( 28679690 )
2017
49
Studies on truncating mutations of SPAST associated with Hereditary Spastic Paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin. ( 28495799 )
2017
50
Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene. ( 28970574 )
2017
Sources

Variations for Hereditary Spastic Paraplegia

About this section

ClinVar genetic disease variations for Hereditary Spastic Paraplegia:

6
(show top 50) (show all 174)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic rs312262720 GRCh37 Chromosome 15, 44949428: 44949429
2 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic rs312262720 GRCh38 Chromosome 15, 44657230: 44657231
3 NIPA1 NM_144599.4(NIPA1): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104894490 GRCh37 Chromosome 15, 23060816: 23060816
4 NIPA1 NM_144599.4(NIPA1): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104894490 GRCh38 Chromosome 15, 22812252: 22812252
5 CYP7B1 NM_004820.4(CYP7B1): c.825T> A (p.Tyr275Ter) single nucleotide variant Pathogenic rs121908613 GRCh37 Chromosome 8, 65528273: 65528273
6 CYP7B1 NM_004820.4(CYP7B1): c.825T> A (p.Tyr275Ter) single nucleotide variant Pathogenic rs121908613 GRCh38 Chromosome 8, 64615716: 64615716
7 GBA2 NM_020944.2(GBA2): c.1888C> T (p.Arg630Trp) single nucleotide variant Pathogenic rs398123012 GRCh37 Chromosome 9, 35738808: 35738808
8 GBA2 NM_020944.2(GBA2): c.1888C> T (p.Arg630Trp) single nucleotide variant Pathogenic rs398123012 GRCh38 Chromosome 9, 35738811: 35738811
9 GBA2 NM_020944.2(GBA2): c.2618G> A (p.Arg873His) single nucleotide variant Pathogenic rs398123015 GRCh37 Chromosome 9, 35737332: 35737332
10 GBA2 NM_020944.2(GBA2): c.2618G> A (p.Arg873His) single nucleotide variant Pathogenic rs398123015 GRCh38 Chromosome 9, 35737335: 35737335
11 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Pathogenic/Likely pathogenic rs61755320 GRCh37 Chromosome 16, 89613145: 89613145
12 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Pathogenic/Likely pathogenic rs61755320 GRCh38 Chromosome 16, 89546737: 89546737
13 C19orf12 NM_001031726.3(C19orf12): c.157G> A (p.Gly53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs200133991 GRCh38 Chromosome 19, 29708290: 29708290
14 C19orf12 NM_001031726.3(C19orf12): c.157G> A (p.Gly53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs200133991 GRCh37 Chromosome 19, 30199197: 30199197
15 DDHD2 NM_015214.2(DDHD2): c.1249_1891del deletion Likely pathogenic
16 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
17 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh38 Chromosome 2, 240788208: 240788208
18 NIPA1 NM_144599.4(NIPA1): c.42_47dupGGCGGC (p.Ala16_Gly17insAlaAla) duplication Conflicting interpretations of pathogenicity rs549007670 GRCh37 Chromosome 15, 23086365: 23086370
19 NIPA1 NM_144599.4(NIPA1): c.42_47dupGGCGGC (p.Ala16_Gly17insAlaAla) duplication Conflicting interpretations of pathogenicity rs549007670 GRCh38 Chromosome 15, 22786698: 22786703
20 SACS NM_014363.5(SACS): c.13717A> C (p.Asn4573His) single nucleotide variant Conflicting interpretations of pathogenicity rs34382952 GRCh37 Chromosome 13, 23904298: 23904298
21 SACS NM_014363.5(SACS): c.13717A> C (p.Asn4573His) single nucleotide variant Conflicting interpretations of pathogenicity rs34382952 GRCh38 Chromosome 13, 23330159: 23330159
22 KIF1C NM_006612.5(KIF1C): c.2734C> T (p.Arg912Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202232792 GRCh37 Chromosome 17, 4926868: 4926868
23 KIF1C NM_006612.5(KIF1C): c.2734C> T (p.Arg912Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202232792 GRCh38 Chromosome 17, 5023573: 5023573
24 SPG7 NM_003119.3(SPG7): c.1933T> A (p.Ser645Thr) single nucleotide variant Uncertain significance rs2099104 GRCh37 Chromosome 16, 89619540: 89619540
25 SPG7 NM_003119.3(SPG7): c.1933T> A (p.Ser645Thr) single nucleotide variant Uncertain significance rs2099104 GRCh38 Chromosome 16, 89553132: 89553132
26 BICD2 NM_001003800.1(BICD2): c.269A> G (p.Lys90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61754130 GRCh37 Chromosome 9, 95491490: 95491490
27 BICD2 NM_001003800.1(BICD2): c.269A> G (p.Lys90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61754130 GRCh38 Chromosome 9, 92729208: 92729208
28 SACS NM_014363.5(SACS): c.1373C> T (p.Thr458Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61729954 GRCh37 Chromosome 13, 23929378: 23929378
29 SACS NM_014363.5(SACS): c.1373C> T (p.Thr458Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61729954 GRCh38 Chromosome 13, 23355239: 23355239
30 ALS2 NM_020919.3(ALS2): c.3206G> A (p.Gly1069Glu) single nucleotide variant Uncertain significance rs200706696 GRCh38 Chromosome 2, 201726526: 201726526
31 ALS2 NM_020919.3(ALS2): c.3206G> A (p.Gly1069Glu) single nucleotide variant Uncertain significance rs200706696 GRCh37 Chromosome 2, 202591249: 202591249
32 GAD1 NM_000817.2(GAD1): c.1252G> T (p.Val418Phe) single nucleotide variant Uncertain significance rs143058194 GRCh38 Chromosome 2, 170852781: 170852781
33 GAD1 NM_000817.2(GAD1): c.1252G> T (p.Val418Phe) single nucleotide variant Uncertain significance rs143058194 GRCh37 Chromosome 2, 171709291: 171709291
34 SACS NM_014363.5(SACS): c.1640C> T (p.Pro547Leu) single nucleotide variant Uncertain significance rs140507581 GRCh38 Chromosome 13, 23354972: 23354972
35 SACS NM_014363.5(SACS): c.1640C> T (p.Pro547Leu) single nucleotide variant Uncertain significance rs140507581 GRCh37 Chromosome 13, 23929111: 23929111
36 SACS NM_014363.5(SACS): c.5629C> T (p.Arg1877Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs761089024 GRCh37 Chromosome 13, 23912386: 23912386
37 SACS NM_014363.5(SACS): c.5629C> T (p.Arg1877Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs761089024 GRCh38 Chromosome 13, 23338247: 23338247
38 SPG7 NM_003119.3(SPG7): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic/Likely pathogenic rs562890289 GRCh37 Chromosome 16, 89611178: 89611178
39 SPG7 NM_003119.3(SPG7): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic/Likely pathogenic rs562890289 GRCh38 Chromosome 16, 89544770: 89544770
40 KY NM_178554.4(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18Tyrfs) insertion Pathogenic rs1085307110 GRCh37 Chromosome 3, 134369751: 134369752
41 KY NM_178554.4(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18Tyrfs) insertion Pathogenic rs1085307110 GRCh38 Chromosome 3, 134650909: 134650910
42 ALS2 NM_020919.3(ALS2): c.3746T> C (p.Phe1249Ser) single nucleotide variant Uncertain significance rs551822626 GRCh38 Chromosome 2, 201718167: 201718167
43 ALS2 NM_020919.3(ALS2): c.3746T> C (p.Phe1249Ser) single nucleotide variant Uncertain significance rs551822626 GRCh37 Chromosome 2, 202582890: 202582890
44 SPG7 NM_003119.3(SPG7): c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Pathogenic/Likely pathogenic rs768823392 GRCh38 Chromosome 16, 89546662: 89546670
45 SPG7 NM_003119.3(SPG7): c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Pathogenic/Likely pathogenic rs768823392 GRCh37 Chromosome 16, 89613070: 89613078
46 AMPD2 NM_001257360.1(AMPD2): c.650G> C (p.Arg217Pro) single nucleotide variant Uncertain significance rs138175138 GRCh37 Chromosome 1, 110169006: 110169006
47 AMPD2 NM_001257360.1(AMPD2): c.650G> C (p.Arg217Pro) single nucleotide variant Uncertain significance rs138175138 GRCh38 Chromosome 1, 109626384: 109626384
48 AMPD2 NM_001257360.1(AMPD2): c.1342G> A (p.Val448Met) single nucleotide variant Uncertain significance rs374249741 GRCh37 Chromosome 1, 110170804: 110170804
49 AMPD2 NM_001257360.1(AMPD2): c.1342G> A (p.Val448Met) single nucleotide variant Uncertain significance rs374249741 GRCh38 Chromosome 1, 109628182: 109628182
50 AP4B1 NM_006594.4(AP4B1): c.1114+29G> C single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 114442497: 114442497

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
Sources

Expression for Hereditary Spastic Paraplegia

About this section
Search GEO for disease gene expression data for Hereditary Spastic Paraplegia.
Sources

Pathways for Hereditary Spastic Paraplegia

About this section

Pathways related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Endocytosis 37
11.31 KIF5A SPART WASHC5 ZFYVE27
Sources

GO Terms for Hereditary Spastic Paraplegia

About this section

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.91 ATL1 C19orf12 CYP7B1 GBA2 SPAST WASHC5
2 neuronal cell body GO:0043025 9.71 ALS2 KIF1A KIF5A WASHC5
3 midbody GO:0030496 9.61 SPART SPAST ZFYVE26
4 early endosome GO:0005769 9.56 ALS2 HSPD1 NIPA1 WASHC5
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 9.32 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 9.5 AFG3L2 HSPD1 SPG7
2 mitochondrial calcium ion transmembrane transport GO:0006851 9.43 AFG3L2 SPG7
3 cytoskeleton-dependent intracellular transport GO:0030705 9.4 KIF1A KIF5A
4 synaptic vesicle transport GO:0048489 9.37 KIF5A SPG11
5 endosomal transport GO:0016197 9.33 ALS2 AP5Z1 WASHC5
6 mitochondrial calcium ion homeostasis GO:0051560 9.26 AFG3L2 C19orf12
7 axonogenesis GO:0007409 9.26 AFG3L2 ALS2 ATL1 SPAST
8 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 unfolded protein binding GO:0051082 9.33 AFG3L2 HSPD1 SPG7
2 ATPase activity GO:0016887 9.26 HSPD1 KIF1A KIF5A SPAST
3 hydrolase activity GO:0016787 9.23 AFG3L2 ATL1 DDHD1 GBA2 HSPD1 KY
Sources

Sources for Hereditary Spastic Paraplegia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....