SPG1
MCID: XLN085
MIFTS: 14

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 54 60
Spg1 54 60
Masa Syndrome 74

Classifications:



External Ids:

Orphanet 60 ORPHA306617
UMLS 74 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 hydrocephalus. An important gene associated with X-Linked Complicated Spastic Paraplegia Type 1 is L1CAM (L1 Cell Adhesion Molecule).

Related Diseases for X-Linked Complicated Spastic Paraplegia Type 1

Diseases related to X-Linked Complicated Spastic Paraplegia Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 masa syndrome 12.2
2 hydrocephalus 10.2
3 paraplegia 10.2
4 spastic paraplegia 1 10.2

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

Publications for X-Linked Complicated Spastic Paraplegia Type 1

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

(show all 27)
# Title Authors Year
1
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. ( 26008818 )
2015
2
First case of L1CAM gene mutation identified in MASA syndrome in Asia. ( 15904436 )
2005
3
MASA syndrome: ultrasonographic evidence in a male fetus. ( 11113917 )
2000
4
Regions of Byr4, a regulator of septation in fission yeast, that bind Spg1 or Cdc16 and form a two-component GTPase-activating protein with Cdc16. ( 10196225 )
1999
5
Byr4, a dosage-dependent regulator of cytokinesis in S. pombe, interacts with a possible small GTPase pathway including Spg1 and Cdc16. ( 9638658 )
1998
6
Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1. ( 8636066 )
1996
7
X linked hydrocephalus and MASA syndrome. ( 8825051 )
1996
8
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. ( 7562969 )
1995
9
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. ( 7645588 )
1995
10
New domains of neural cell-adhesion molecule L1 implicated in X- linked hydrocephalus and MASA syndrome. ( 7762552 )
1995
11
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. ( 7920660 )
1994
12
Clinical aspects of the MASA syndrome in a large family, including expressing females. ( 8062435 )
1994
13
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. ( 7881431 )
1994
14
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. ( 7920659 )
1994
15
The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families. ( 8031529 )
1994
16
Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28. ( 8062432 )
1994
17
Agenesis of the corpus callosum associated with MASA syndrome. ( 8305964 )
1993
18
Preparation and characterization of murine anti-schizophyllan monoclonal antibody, SPG1-HS. ( 7763418 )
1993
19
MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families. ( 1552562 )
1992
20
MASA syndrome: delineation of the clinical spectrum at prepubertal age. ( 1605218 )
1992
21
MASA syndrome. ( 1424231 )
1992
22
Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28. ( 1605219 )
1992
23
X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. ( 1870106 )
1991
24
MASA syndrome: clinical variability and linkage analysis. ( 1951449 )
1991
25
MASA syndrome: new clinical features and linkage analysis using DNA probes. ( 2277384 )
1990
26
MASA syndrome: further clinical delineation and chromosomal localisation. ( 2737668 )
1989
27
The MASA syndrome: a new heritable mental retardation syndrome. ( 4855169 )
1974

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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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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