MCID: CMP101
MIFTS: 21

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 58
Complicated Hereditary Spastic Paraplegia 58
Complicated Familial Spastic Paraplegia 58
Complex Familial Spastic Paraplegia 58
Complicated Hsp 58
Complicated Spg 58
Complex Hsp 58
Complex Spg 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.4
Orphanet 58 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 17, autosomal dominant. An important gene associated with Complex Hereditary Spastic Paraplegia is ATP13A2 (ATPase Cation Transporting 13A2). Affiliated tissues include brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 108)
# Related Disease Score Top Affiliating Genes
1 masa syndrome 31.6 SPG7 SPG11 NIPA1 DDHD2
2 spastic paraplegia 17, autosomal dominant 31.4 SPG11 NIPA1
3 spastic paraplegia 2, x-linked 31.2 SPG7 SPG11
4 spastic paraplegia 20, autosomal recessive 31.0 SPG7 SPG11 NIPA1
5 spastic paraplegia 3, autosomal dominant 30.9 SPG11 NIPA1
6 spastic paraparesis 29.8 SPG7 SPG11
7 spastic paraplegia 11, autosomal recessive 29.8 SPG7 SPG11
8 hereditary spastic paraplegia 23 29.7 SPG11 CYP7B1
9 spastic paraplegia 26, autosomal recessive 29.7 SPG11 B4GALNT1
10 spastic paraplegia 30, autosomal recessive 29.5 SPG11 NIPA1
11 spastic paraplegia 6, autosomal dominant 29.4 SPG11 NIPA1
12 spastic paraplegia 54, autosomal recessive 29.1 SPG7 SPG11 DDHD2
13 neurodegeneration with brain iron accumulation 29.1 SPG11 ATP13A2
14 spastic paraplegia 18, autosomal recessive 29.0 SPG7 SPG11 NIPA1
15 spastic paraplegia 35, autosomal recessive 28.7 SPG7 SPG11 DDHD2 ATP13A2
16 spastic paraplegia 15, autosomal recessive 28.5 SPG7 SPG11 NIPA1 CYP7B1
17 spastic paraplegia 4, autosomal dominant 28.4 SPG7 SPG11 NIPA1 CYP7B1
18 hereditary spastic paraplegia 27.8 SPG7 SPG11 NIPA1 DDHD2 CYP7B1 B4GALNT1
19 paraplegia 27.8 SPG7 SPG11 NIPA1 DDHD2 CYP7B1 B4GALNT1
20 pure or complex hereditary spastic paraplegia 12.6
21 spastic paraplegia 11 11.7
22 spastic paraplegia 15 11.7
23 spastic paraplegia 14 11.4
24 spastic paraplegia 16 11.4
25 spastic paraplegia 17 11.4
26 spastic paraplegia type 49 11.4
27 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction 11.4
28 autosomal recessive complex spastic paraplegia 11.3
29 autosomal dominant complex spastic paraplegia 11.3
30 spastic paraplegia 16, x-linked 11.2
31 microcephaly 10.3
32 spasticity 10.3
33 spastic paraplegia 7, autosomal recessive 10.2
34 alacrima, achalasia, and mental retardation syndrome 10.2
35 amyotrophic lateral sclerosis 1 10.0
36 ataxia and polyneuropathy, adult-onset 10.0
37 epilepsy, idiopathic generalized 10.0
38 aceruloplasminemia 10.0
39 spastic paraplegia 78, autosomal recessive 10.0
40 neuronal ceroid lipofuscinosis 10.0
41 epilepsy 10.0
42 lateral sclerosis 10.0
43 sensory peripheral neuropathy 10.0
44 dystonia 10.0
45 peripheral nervous system disease 10.0
46 neuropathy 10.0
47 spastic paraplegia 26 10.0
48 spastic paraplegia 6 10.0
49 hereditary neuropathies 10.0
50 machado-joseph disease 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

GenomeRNAi Phenotypes related to Complex Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.47 DDHD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.47 DDHD2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.47 ATP13A2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.47 ATP13A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.47 ATP13A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.47 ATP13A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.47 ATP13A2 DDHD2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.47 DDHD2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.47 ATP13A2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.47 DDHD2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.47 ATP13A2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.47 ATP13A2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.47 DDHD2

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:

40
Brain

Publications for Complex Hereditary Spastic Paraplegia

Articles related to Complex Hereditary Spastic Paraplegia:

(show all 29)
# Title Authors PMID Year
1
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants. 61
31302745 2019
2
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. 61
31637422 2019
3
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). 61
31525725 2019
4
FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum. 61
31106652 2019
5
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations! 61
31402626 2019
6
Pure or Complex Hereditary Spastic Paraplegia Type 4? 61
30877703 2019
7
Re: Comments on "Pure or Complex Hereditary Spastic Paraplegia Type 4?": The Authors Respond. 61
30938112 2019
8
SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia. 61
30616884 2019
9
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. 61
29882329 2018
10
Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets. 61
29278326 2018
11
New genetic causes for complex hereditary spastic paraplegia. 61
28716262 2017
12
Parkinsonian-Pyramidal syndromes: A systematic review. 61
28256436 2017
13
NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. 61
28327087 2017
14
Severe axonal neuropathy is a late manifestation of SPG11. 61
27544499 2016
15
Three cases of Troyer syndrome in two families of Filipino descent. 61
27112432 2016
16
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 61
27217339 2016
17
GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model. 61
26971897 2016
18
Recurrent null mutation in SPG20 leads to Troyer syndrome. 61
26003402 2015
19
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 61
26026163 2015
20
The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase. 61
25267624 2014
21
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 61
24355708 2014
22
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. 61
23746551 2013
23
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. 61
23176823 2012
24
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
25
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. 61
21599812 2011
26
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). 61
18717728 2008
27
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. 61
18337587 2008
28
Hereditary spastic paraplegia 3A associated with axonal neuropathy. 61
17502470 2007
29
Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition. 61
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

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 8.8 DDHD2 CYP7B1 B4GALNT1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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