SPG1
MCID: XLN085
MIFTS: 21

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 20 58
Spg1 20 58
Masa Syndrome 71

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA306617
UMLS 71 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, and related phenotypes are spastic paraplegia and intellectual disability, mild

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

Human phenotypes related to X-Linked Complicated Spastic Paraplegia Type 1:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
2 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
3 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
4 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
5 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
6 adducted thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001181
7 mental deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001268
8 cognitive impairment 58 Frequent (79-30%)
9 upper motor neuron dysfunction 58 Frequent (79-30%)

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:

40
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 81)
# Title Authors PMID Year
1
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant. 61
33415589 2021
2
A novel self-assembled micelles based on stearic acid modified schizophyllan for efficient delivery of paclitaxel. 61
33360623 2020
3
Genetic mutation analysis of hereditary spastic paraplegia: A retrospective study. 61
32501971 2020
4
CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation. 61
32352326 2020
5
Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models. 61
33072739 2020
6
Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature. 61
31236401 2019
7
Involvement of the septation initiation network in events during cytokinesis in fission yeast. 61
30072443 2018
8
Serum pepsinogen 1 and anti-Helicobacter pylori IgG antibodies as predictors of gastric cancer risk in Finnish males. 61
29243850 2018
9
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. 61
28491902 2017
10
Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation. 61
27638887 2016
11
Temperature modulates testis steroidogenesis in European eel. 61
27013359 2016
12
[X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome]. 61
26916325 2016
13
Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54). 61
26113134 2015
14
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. 61
26008818 2015
15
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A. 61
24908668 2014
16
[Japan Spastic Paraplegia Research Consortium (JASPAC)]. 61
25296875 2014
17
Rapid fluorescent detection of (anti)androgens with spiggin-gfp medaka. 61
25171099 2014
18
Cdk1 promotes cytokinesis in fission yeast through activation of the septation initiation network. 61
24920823 2014
19
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. 61
24999486 2014
20
Feedback regulation of SIN by Etd1 and Rho1 in fission yeast. 61
24336750 2014
21
Spastin-interacting protein NA14/SSNA1 functions in cytokinesis and axon development. 61
25390646 2014
22
[Hereditary spastic paraplegia: up to date]. 61
25519960 2014
23
[Clinical aspects of hereditary spastic paraplegias]. 61
25519961 2014
24
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
25
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. 61
22552817 2012
26
Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling. 61
22619377 2012
27
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
28
The fission yeast septation initiation network (SIN) kinase, Sid2, is required for SIN asymmetry and regulates the SIN scaffold, Cdc11. 61
22419817 2012
29
Overexpression limits of fission yeast cell-cycle regulators in vivo and in silico. 61
22146300 2011
30
Genetics of hereditary spastic paraplegias. 61
22266886 2011
31
Antagonistic roles of PP2A-Pab1 and Etd1 in the control of cytokinesis in fission yeast. 61
20876564 2010
32
[Japan spastic paraplegia research consortium (JASPAC)]. 61
21921516 2010
33
SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. 61
20719964 2010
34
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. 61
20200447 2010
35
The STE group kinase SepA controls cleavage furrow formation in Dictyostelium. 61
19479821 2009
36
Proper timing of cytokinesis is regulated by Schizosaccharomyces pombe Etd1. 61
19736319 2009
37
Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. 61
19357379 2009
38
Atlastin GTPases are required for Golgi apparatus and ER morphogenesis. 61
18270207 2008
39
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? 61
18413476 2008
40
First Report of a Begomovirus Infecting Sweetpotato in Kenya. 61
30781266 2006
41
Annotation of unknown yeast ORFs by correlation analysis of microarray data and extensive literature searches. 61
16710832 2006
42
SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. 61
16537571 2006
43
Identification of functional domains within the septation initiation network kinase, Cdc7. 61
16469735 2006
44
Prenatal diagnosis in a family with X-linked hydrocephalus. 61
16088863 2005
45
Maintenance of neuronal positions in organized ganglia by SAX-7, a Caenorhabditis elegans homologue of L1. 61
15775964 2005
46
Detection of Geminiviruses in Sweetpotato by Polymerase Chain Reaction. 61
30795196 2004
47
AtSGP1, AtSGP2 and MAP4K alpha are nucleolar plant proteins that can complement fission yeast mutants lacking a functional SIN pathway. 61
15292395 2004
48
Calcineurin is implicated in the regulation of the septation initiation network in fission yeast. 61
12354095 2002
49
F-actin ring formation and the role of F-actin cables in the fission yeast Schizosaccharomyces pombe. 61
11870208 2002
50
The protein phosphatase 2A B'-regulatory subunit par1p is implicated in regulation of the S. pombe septation initiation network. 61
11707284 2001

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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