MCID: PRH002
MIFTS: 22

Pure Hereditary Spastic Paraplegia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pure Hereditary Spastic Paraplegia

MalaCards integrated aliases for Pure Hereditary Spastic Paraplegia:

Name: Pure Hereditary Spastic Paraplegia 59
Uncomplicated Hereditary Spastic Paraplegia 59
Uncomplicated Familial Spastic Paraplegia 59
Pure Familial Spastic Paraplegia 59
Uncomplicated Hsp 59
Uncomplicated Spg 59
Pure Hsp 59
Pure Spg 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.4
UMLS via Orphanet 73 C0393555
Orphanet 59 ORPHA102012

Summaries for Pure Hereditary Spastic Paraplegia

MalaCards based summary : Pure Hereditary Spastic Paraplegia, also known as uncomplicated hereditary spastic paraplegia, is related to spastic paraplegia 10 and spastic paraplegia 18, autosomal recessive. An important gene associated with Pure Hereditary Spastic Paraplegia is SPAST (Spastin). Affiliated tissues include brain.

Related Diseases for Pure Hereditary Spastic Paraplegia

Diseases in the Pure Hereditary Spastic Paraplegia family:

Autosomal Recessive Pure Spastic Paraplegia Autosomal Dominant Pure Spastic Paraplegia

Diseases related to Pure Hereditary Spastic Paraplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 10 30.7 SPAST KIF5A
2 spastic paraplegia 18, autosomal recessive 30.1 NIPA1 ERLIN2
3 spastic paraplegia 31, autosomal dominant 30.0 SPAST RTN2 ATL1
4 spastic paraplegia 10, autosomal dominant 29.8 RTN2 KIF5A ATL1
5 spastic paraplegia 3, autosomal dominant 29.4 SPAST RTN2 NIPA1 ATL1
6 spastic paraplegia 2, x-linked 29.3 RTN2 PLP1 ATL1
7 spastic paraplegia 4, autosomal dominant 29.1 SPAST RTN2 NIPA1 ERLIN2 ATL1
8 spastic paraplegia 6, autosomal dominant 29.0 SPAST NIPA1 KIF5A ERLIN2 ATL1
9 spastic paraplegia 12, autosomal dominant 28.9 SPAST RTN2 KIF5A ERLIN2 ATL1
10 paraplegia 28.6 SPAST RTN2 PLP1 NIPA1 KIF5A ERLIN2
11 hereditary spastic paraplegia 28.5 SPAST RTN2 PLP1 NIPA1 KIF5A ERLIN2
12 spastic paraplegia 4 11.8
13 spastic paraplegia 3a 11.8
14 spastic paraplegia 31 11.8
15 spastic paraplegia 8 11.5
16 infantile-onset ascending hereditary spastic paralysis 11.5
17 spastic paraplegia 5a 11.5
18 autosomal recessive pure spastic paraplegia 11.4
19 autosomal dominant pure spastic paraplegia 11.4
20 familial spastic paralysis 11.4
21 spasticity 10.6
22 spastic paraplegia 7, autosomal recessive 10.2
23 x-linked complicated spastic paraplegia type 1 10.2
24 spastic paraplegia 37, autosomal dominant 10.1
25 pelizaeus-merzbacher disease 10.1
26 ataxia and polyneuropathy, adult-onset 10.1
27 branchiootic syndrome 1 10.1
28 aceruloplasminemia 10.1
29 spastic paraplegia 14, autosomal recessive 10.1
30 spastic paraplegia 19, autosomal dominant 10.1
31 spastic paraplegia 24, autosomal recessive 10.1
32 spastic paraplegia 72, autosomal recessive 10.1
33 spastic paraplegia 73, autosomal dominant 10.1
34 spastic paraplegia 76, autosomal recessive 10.1
35 hereditary spastic paraplegia 72 10.1
36 autosomal dominant cerebellar ataxia 10.1
37 pathologic nystagmus 10.1
38 spastic paraplegia 12 10.1
39 spastic paraplegia 14 10.1
40 spastic paraplegia 18 10.1
41 spastic paraplegia 19 10.1
42 x-linked pure spastic paraplegia 10.1
43 spastic paraplegia 5a, autosomal recessive 10.0
44 spastic paraplegia 6 10.0
45 spastic paraplegia 13, autosomal dominant 10.0 SPAST ERLIN2 ATL1
46 cerebral palsy 9.9 PLP1 ATL1
47 spastic paraplegia 8, autosomal dominant 9.8 NIPA1 ERLIN2 ATL1
48 spastic paraplegia 33, autosomal dominant 9.8 SPAST RTN2
49 spastic paraplegia 61, autosomal recessive 9.8 SPAST RTN2 ATL1
50 masa syndrome 9.7 SPAST NIPA1 ATL1

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



Diseases related to Pure Hereditary Spastic Paraplegia

Symptoms & Phenotypes for Pure Hereditary Spastic Paraplegia

Drugs & Therapeutics for Pure Hereditary Spastic Paraplegia

Search Clinical Trials , NIH Clinical Center for Pure Hereditary Spastic Paraplegia

Genetic Tests for Pure Hereditary Spastic Paraplegia

Anatomical Context for Pure Hereditary Spastic Paraplegia

MalaCards organs/tissues related to Pure Hereditary Spastic Paraplegia:

41
Brain

Publications for Pure Hereditary Spastic Paraplegia

Articles related to Pure Hereditary Spastic Paraplegia:

(show all 47)
# Title Authors PMID Year
1
Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia. 38
30968942 2019
2
A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia. 38
30938113 2019
3
A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course. 38
30911584 2019
4
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family. 38
31231303 2019
5
StartReact during gait initiation reveals differential control of muscle activation and inhibition in patients with corticospinal degeneration. 38
30155740 2018
6
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. 38
29528531 2018
7
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. 38
28818478 2017
8
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. 38
28491902 2017
9
Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18. 38
27824013 2016
10
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 38
27334366 2016
11
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. 38
27260292 2016
12
Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region on chromosome 3q28-q29. 38
26671141 2015
13
Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation. 38
26600529 2015
14
Functional effects of botulinum toxin type-A treatment and subsequent stretching of spastic calf muscles: a study in patients with hereditary spastic paraplegia. 38
25325386 2015
15
Robot-assisted gait training in a patient with hereditary spastic paraplegia. 38
25255290 2015
16
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. 38
25413954 2015
17
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 38
24824479 2014
18
Brain white matter involvement in hereditary spastic paraplegias: analysis with multiple diffusion tensor indices. 38
24788132 2014
19
Zebrafish models of human motor neuron diseases: advantages and limitations. 38
24705136 2014
20
StartReact restores reaction time in HSP: evidence for subcortical release of a motor program. 38
24381288 2014
21
Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene. 38
25133278 2014
22
Axonal integrity of corticospinal projections to the upper limbs in patients with pure hereditary spastic paraplegia. 38
21195663 2011
23
Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. 38
20550563 2011
24
Specific pattern of early white-matter changes in pure hereditary spastic paraplegia. 38
20669295 2010
25
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 38
19439420 2009
26
Spastic Paraplegia 8 38
20301727 2008
27
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia. 38
16684598 2006
28
All neuropathies great and small. 38
16276409 2005
29
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. 38
15537668 2005
30
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. 38
15452312 2004
31
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. 38
12499481 2002
32
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 38
12112072 2002
33
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 38
11898127 2002
34
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 38
11309678 2001
35
A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study. 38
11266693 2001
36
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. 38
10677333 2000
37
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. 38
10563637 1999
38
Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia. 38
10528866 1999
39
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. 38
10441583 1999
40
Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families. 38
10468513 1999
41
Pure hereditary spastic paraplegia. 38
9192272 1997
42
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. 38
8780101 1996
43
Sensory neuropathy in hereditary spastic paraplegia. 38
8006649 1994
44
Choreas, hereditary and other ataxias, tics, myoclonus, and other movement disorders. 38
8507906 1993
45
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. 38
8320699 1993
46
Hereditary "pure" spastic paraplegia: a study of nine families. 38
8382269 1993
47
Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. 38
2043954 1991

Variations for Pure Hereditary Spastic Paraplegia

Expression for Pure Hereditary Spastic Paraplegia

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

Pathways for Pure Hereditary Spastic Paraplegia

GO Terms for Pure Hereditary Spastic Paraplegia

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.26 SPAST RTN2 ERLIN2 ATL1
2 axon cytoplasm GO:1904115 8.62 SPAST KIF5A

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

# Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 8.62 SPAST ATL1

Sources for Pure Hereditary Spastic Paraplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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