MCID: CMP101
MIFTS: 23

Complex Hereditary Spastic Paraplegia

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Complex Hereditary Spastic Paraplegia

MalaCards integrated aliases for Complex Hereditary Spastic Paraplegia:

Name: Complex Hereditary Spastic Paraplegia 59
Complicated Hereditary Spastic Paraplegia 59
Complicated Familial Spastic Paraplegia 59
Complex Familial Spastic Paraplegia 59
Complicated Hsp 59
Complicated Spg 59
Complex Hsp 59
Complex Spg 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.4
Orphanet 59 ORPHA102013

Summaries for Complex Hereditary Spastic Paraplegia

MalaCards based summary : Complex Hereditary Spastic Paraplegia, also known as complicated hereditary spastic paraplegia, is related to masa syndrome and spastic paraplegia 3, autosomal dominant. An important gene associated with Complex Hereditary Spastic Paraplegia is ATP13A2 (ATPase Cation Transporting 13A2). Affiliated tissues include brain.

Related Diseases for Complex Hereditary Spastic Paraplegia

Diseases in the Complex Hereditary Spastic Paraplegia family:

Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction Autosomal Recessive Complex Spastic Paraplegia
Autosomal Dominant Complex Spastic Paraplegia

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

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 masa syndrome 32.7 SPG11 NIPA1
2 spastic paraplegia 3, autosomal dominant 30.9 SPG11 NIPA1
3 spastic paraplegia 35, autosomal recessive 29.7 SPG11 DDHD2
4 spastic paraparesis 29.6 SPG7 SPG11
5 spastic paraplegia 11, autosomal recessive 29.2 SPG7 SPG11
6 spastic paraplegia 15, autosomal recessive 28.9 SPG7 SPG11 DDHD2
7 spastic paraplegia 4, autosomal dominant 28.7 SPG7 SPG11 NIPA1
8 paraplegia 28.3 SPG7 SPG11 NIPA1 DDHD2 CYP7B1
9 hereditary spastic paraplegia 27.3 SPG7 SPG11 NIPA1 DDHD2 CYP7B1 B4GALNT1
10 pure or complex hereditary spastic paraplegia 12.6
11 spastic paraplegia 11 11.7
12 spastic paraplegia 15 11.7
13 spastic paraplegia 17, autosomal dominant 11.4
14 spastic paraplegia 20, autosomal recessive 11.4
15 spastic paraplegia 14 11.4
16 spastic paraplegia 16 11.4
17 spastic paraplegia 17 11.4
18 spastic paraplegia type 49 11.4
19 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction 11.4
20 autosomal recessive complex spastic paraplegia 11.3
21 autosomal dominant complex spastic paraplegia 11.3
22 spastic paraplegia 16, x-linked 11.2
23 microcephaly 10.3
24 spasticity 10.3
25 spastic paraplegia 7, autosomal recessive 10.2
26 alacrima, achalasia, and mental retardation syndrome 10.2
27 amyotrophic lateral sclerosis 1 10.0
28 ataxia and polyneuropathy, adult-onset 10.0
29 spastic paraplegia 6, autosomal dominant 10.0
30 epilepsy, idiopathic generalized 10.0
31 aceruloplasminemia 10.0
32 spastic paraplegia 26, autosomal recessive 10.0
33 spastic paraplegia 18, autosomal recessive 10.0
34 spastic paraplegia 54, autosomal recessive 10.0
35 spastic paraplegia 78, autosomal recessive 10.0
36 neurodegeneration with brain iron accumulation 10.0
37 neuronal ceroid lipofuscinosis 10.0
38 epilepsy 10.0
39 lateral sclerosis 10.0
40 sensory peripheral neuropathy 10.0
41 dystonia 10.0
42 peripheral nervous system disease 10.0
43 neuropathy 10.0
44 spastic paraplegia 26 10.0
45 spastic paraplegia 6 10.0
46 hereditary neuropathies 10.0
47 machado-joseph disease 10.0
48 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.0
49 mast syndrome 10.0
50 3-methylglutaconic aciduria, type iii 10.0

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



Diseases related to Complex Hereditary Spastic Paraplegia

Symptoms & Phenotypes for Complex Hereditary Spastic Paraplegia

Drugs & Therapeutics for Complex Hereditary Spastic Paraplegia

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

Genetic Tests for Complex Hereditary Spastic Paraplegia

Anatomical Context for Complex Hereditary Spastic Paraplegia

MalaCards organs/tissues related to Complex Hereditary Spastic Paraplegia:

41
Brain

Publications for Complex Hereditary Spastic Paraplegia

Articles related to Complex Hereditary Spastic Paraplegia:

(show all 27)
# Title Authors PMID Year
1
FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum. 38
31106652 2019
2
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations! 38
31402626 2019
3
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants. 38
31302745 2019
4
Re: Comments on "Pure or Complex Hereditary Spastic Paraplegia Type 4?": The Authors Respond. 38
30938112 2019
5
Pure or Complex Hereditary Spastic Paraplegia Type 4? 38
30877703 2019
6
SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia. 38
30616884 2019
7
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. 38
29882329 2018
8
Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets. 38
29278326 2018
9
New genetic causes for complex hereditary spastic paraplegia. 38
28716262 2017
10
Parkinsonian-Pyramidal syndromes: A systematic review. 38
28256436 2017
11
NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. 38
28327087 2017
12
Severe axonal neuropathy is a late manifestation of SPG11. 38
27544499 2016
13
Three cases of Troyer syndrome in two families of Filipino descent. 38
27112432 2016
14
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 38
27217339 2016
15
GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model. 38
26971897 2016
16
Recurrent null mutation in SPG20 leads to Troyer syndrome. 38
26003402 2015
17
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 38
26026163 2015
18
The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase. 38
25267624 2014
19
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 38
24355708 2014
20
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. 38
23746551 2013
21
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. 38
23176823 2012
22
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 38
22554690 2012
23
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. 38
21599812 2011
24
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). 38
18717728 2008
25
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. 38
18337587 2008
26
Hereditary spastic paraplegia 3A associated with axonal neuropathy. 38
17502470 2007
27
Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition. 38
7783167 1995

Variations for Complex Hereditary Spastic Paraplegia

Expression for Complex Hereditary Spastic Paraplegia

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

Pathways for Complex Hereditary Spastic Paraplegia

GO Terms for Complex Hereditary Spastic Paraplegia

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

# Name GO ID Score Top Affiliating Genes
1 late endosome GO:0005770 8.62 WDR48 ATP13A2

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.13 DDHD2 CYP7B1 B4GALNT1
2 positive regulation of epithelial cell proliferation GO:0050679 8.62 WDR48 CYP7B1

Sources for Complex 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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