SPG1
MCID: XLN085
MIFTS: 16

X-Linked Complicated Spastic Paraplegia Type 1 (SPG1)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Complicated Spastic Paraplegia Type 1

MalaCards integrated aliases for X-Linked Complicated Spastic Paraplegia Type 1:

Name: X-Linked Complicated Spastic Paraplegia Type 1 53 59
Spg1 53 59
Masa Syndrome 72

Classifications:



External Ids:

Orphanet 59 ORPHA306617
UMLS 72 C0795953

Summaries for X-Linked Complicated Spastic Paraplegia Type 1

MalaCards based summary : X-Linked Complicated Spastic Paraplegia Type 1, also known as spg1, is related to masa syndrome and paraplegia. An important gene associated with X-Linked Complicated Spastic Paraplegia Type 1 is L1CAM (L1 Cell Adhesion Molecule). Affiliated tissues include testis.

Related Diseases for X-Linked Complicated Spastic Paraplegia Type 1

Graphical network of the top 20 diseases related to X-Linked Complicated Spastic Paraplegia Type 1:



Diseases related to X-Linked Complicated Spastic Paraplegia Type 1

Symptoms & Phenotypes for X-Linked Complicated Spastic Paraplegia Type 1

Drugs & Therapeutics for X-Linked Complicated Spastic Paraplegia Type 1

Search Clinical Trials , NIH Clinical Center for X-Linked Complicated Spastic Paraplegia Type 1

Genetic Tests for X-Linked Complicated Spastic Paraplegia Type 1

Anatomical Context for X-Linked Complicated Spastic Paraplegia Type 1

MalaCards organs/tissues related to X-Linked Complicated Spastic Paraplegia Type 1:

41
Testis

Publications for X-Linked Complicated Spastic Paraplegia Type 1

Articles related to X-Linked Complicated Spastic Paraplegia Type 1:

(show top 50) (show all 77)
# Title Authors PMID Year
1
Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature. 38
31236401 2019
2
Involvement of the septation initiation network in events during cytokinesis in fission yeast. 38
30072443 2018
3
Serum pepsinogen 1 and anti-Helicobacter pylori IgG antibodies as predictors of gastric cancer risk in Finnish males. 38
29243850 2018
4
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. 38
28491902 2017
5
Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation. 38
27638887 2016
6
Temperature modulates testis steroidogenesis in European eel. 38
27013359 2016
7
[X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome]. 38
26916325 2016
8
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. 38
26008818 2015
9
Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54). 38
26113134 2015
10
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A. 38
24908668 2014
11
[Japan Spastic Paraplegia Research Consortium (JASPAC)]. 38
25296875 2014
12
Rapid fluorescent detection of (anti)androgens with spiggin-gfp medaka. 38
25171099 2014
13
Cdk1 promotes cytokinesis in fission yeast through activation of the septation initiation network. 38
24920823 2014
14
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. 38
24999486 2014
15
Feedback regulation of SIN by Etd1 and Rho1 in fission yeast. 38
24336750 2014
16
[Clinical aspects of hereditary spastic paraplegias]. 38
25519961 2014
17
Spastin-interacting protein NA14/SSNA1 functions in cytokinesis and axon development. 38
25390646 2014
18
[Hereditary spastic paraplegia: up to date]. 38
25519960 2014
19
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 38
23897027 2013
20
Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling. 38
22619377 2012
21
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. 38
22552817 2012
22
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 38
22554690 2012
23
The fission yeast septation initiation network (SIN) kinase, Sid2, is required for SIN asymmetry and regulates the SIN scaffold, Cdc11. 38
22419817 2012
24
Overexpression limits of fission yeast cell-cycle regulators in vivo and in silico. 38
22146300 2011
25
Genetics of hereditary spastic paraplegias. 38
22266886 2011
26
Antagonistic roles of PP2A-Pab1 and Etd1 in the control of cytokinesis in fission yeast. 38
20876564 2010
27
[Japan spastic paraplegia research consortium (JASPAC)]. 38
21921516 2010
28
SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. 38
20719964 2010
29
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. 38
20200447 2010
30
The STE group kinase SepA controls cleavage furrow formation in Dictyostelium. 38
19479821 2009
31
Proper timing of cytokinesis is regulated by Schizosaccharomyces pombe Etd1. 38
19736319 2009
32
Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. 38
19357379 2009
33
Atlastin GTPases are required for Golgi apparatus and ER morphogenesis. 38
18270207 2008
34
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? 38
18413476 2008
35
First Report of a Begomovirus Infecting Sweetpotato in Kenya. 38
30781266 2006
36
Annotation of unknown yeast ORFs by correlation analysis of microarray data and extensive literature searches. 38
16710832 2006
37
SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. 38
16537571 2006
38
Identification of functional domains within the septation initiation network kinase, Cdc7. 38
16469735 2006
39
Prenatal diagnosis in a family with X-linked hydrocephalus. 38
16088863 2005
40
Maintenance of neuronal positions in organized ganglia by SAX-7, a Caenorhabditis elegans homologue of L1. 38
15775964 2005
41
Detection of Geminiviruses in Sweetpotato by Polymerase Chain Reaction. 38
30795196 2004
42
AtSGP1, AtSGP2 and MAP4K alpha are nucleolar plant proteins that can complement fission yeast mutants lacking a functional SIN pathway. 38
15292395 2004
43
L1 Syndrome 38
20301657 2004
44
Calcineurin is implicated in the regulation of the septation initiation network in fission yeast. 38
12354095 2002
45
F-actin ring formation and the role of F-actin cables in the fission yeast Schizosaccharomyces pombe. 38
11870208 2002
46
The protein phosphatase 2A B'-regulatory subunit par1p is implicated in regulation of the S. pombe septation initiation network. 38
11707284 2001
47
Correct regulation of the septation initiation network in Schizosaccharomyces pombe requires the activities of par1 and par2. 38
11514436 2001
48
The role of Plo1 kinase in mitotic commitment and septation in Schizosaccharomyces pombe. 38
11250892 2001
49
A new genetic method for isolating functionally interacting genes: high plo1(+)-dependent mutants and their suppressors define genes in mitotic and septation pathways in fission yeast. 38
10924454 2000
50
Byr4 localizes to spindle-pole bodies in a cell cycle-regulated manner to control Cdc7 localization and septation in fission yeast. 38
10799520 2000

Variations for X-Linked Complicated Spastic Paraplegia Type 1

Expression for X-Linked Complicated Spastic Paraplegia Type 1

Search GEO for disease gene expression data for X-Linked Complicated Spastic Paraplegia Type 1.

Pathways for X-Linked Complicated Spastic Paraplegia Type 1

GO Terms for X-Linked Complicated Spastic Paraplegia Type 1

Sources for X-Linked Complicated Spastic Paraplegia Type 1

3 CDC
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10 dbSNP
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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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