MCID: ATS470
MIFTS: 14

Autosomal Dominant Pure Spastic Paraplegia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Pure Spastic Paraplegia

MalaCards integrated aliases for Autosomal Dominant Pure Spastic Paraplegia:

Name: Autosomal Dominant Pure Spastic Paraplegia 59
Autosomal Dominant Uncomplicated Spastic Paraplegia 59
Autosomal Dominant Uncomplicated Hsp 59
Autosomal Dominant Uncomplicated Spg 59
Autosomal Dominant Pure Hsp 59
Autosomal Dominant Pure Spg 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant pure spastic paraplegia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Ireland);

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.4
Orphanet 59 ORPHA100980

Summaries for Autosomal Dominant Pure Spastic Paraplegia

MalaCards based summary : Autosomal Dominant Pure Spastic Paraplegia, also known as autosomal dominant uncomplicated spastic paraplegia, is related to spastic paraplegia 3, autosomal dominant and paraplegia. An important gene associated with Autosomal Dominant Pure Spastic Paraplegia is HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1).

Related Diseases for Autosomal Dominant Pure Spastic Paraplegia

Diseases in the Pure Hereditary Spastic Paraplegia family:

Autosomal Recessive Pure Spastic Paraplegia Autosomal Dominant Pure Spastic Paraplegia

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 11.5
2 paraplegia 10.6
3 spastic paraplegia 4, autosomal dominant 10.4
4 spasticity 10.4
5 spastic paraplegia 4 10.3
6 machado-joseph disease 10.1
7 candidiasis, familial, 1 10.1
8 dentatorubral-pallidoluysian atrophy 10.1
9 huntington disease 10.1
10 spinocerebellar ataxia 1 10.1
11 ataxia and polyneuropathy, adult-onset 10.1
12 spastic paraplegia 13, autosomal dominant 10.1
13 spastic paraplegia 7, autosomal recessive 10.1
14 sexual disorder 10.1
15 autosomal dominant cerebellar ataxia 10.1
16 hereditary spastic paraplegia 10.1
17 axonal neuropathy 10.1
18 muscular atrophy 10.1

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



Diseases related to Autosomal Dominant Pure Spastic Paraplegia

Symptoms & Phenotypes for Autosomal Dominant Pure Spastic Paraplegia

Drugs & Therapeutics for Autosomal Dominant Pure Spastic Paraplegia

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Pure Spastic Paraplegia

Genetic Tests for Autosomal Dominant Pure Spastic Paraplegia

Anatomical Context for Autosomal Dominant Pure Spastic Paraplegia

Publications for Autosomal Dominant Pure Spastic Paraplegia

Articles related to Autosomal Dominant Pure Spastic Paraplegia:

(show all 12)
# Title Authors PMID Year
1
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis. 38
28396731 2017
2
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. 38
17321752 2007
3
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. 38
15596607 2004
4
Motor evoked potentials from the external anal sphincter in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p. 38
11561054 2001
5
Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p. 38
11422430 2001
6
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. 38
10677329 2000
7
[Growing genes cause neurological diseases]. 38
10089735 1999
8
[Genomic instability and neurodegenerative disease]. 38
10067364 1999
9
Urodynamic evaluation of patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. 38
9810939 1998
10
Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study. 38
9436729 1998
11
CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. 38
9302257 1997
12
MRI of autosomal dominant pure spastic paraplegia. 38
9351110 1997

Variations for Autosomal Dominant Pure Spastic Paraplegia

Expression for Autosomal Dominant Pure Spastic Paraplegia

Search GEO for disease gene expression data for Autosomal Dominant Pure Spastic Paraplegia.

Pathways for Autosomal Dominant Pure Spastic Paraplegia

GO Terms for Autosomal Dominant Pure Spastic Paraplegia

Sources for Autosomal Dominant Pure 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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