MCID: SPS020
MIFTS: 20

Spastic Paraplegia 1

Categories: Rare diseases, Neuronal diseases, Mental diseases, Genetic diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 1

MalaCards integrated aliases for Spastic Paraplegia 1:

Name: Spastic Paraplegia 1 53 29 6
Masa Syndrome 53 73
Mental Retardation Aphasia Shuffling Gait Adducted Thumbs 53
Thumb Congenital Clasped with Mental Retardation 53
Adducted Thumb with Mental Retardation 53
Clasped Thumb and Mental Retardation 53
Gareis-Mason Syndrome 53
Crash Syndrome 53

Classifications:



Summaries for Spastic Paraplegia 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2466Disease definitionMASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spastic Paraplegia 1, also known as masa syndrome, is related to masa syndrome and spastic paraplegia 3, autosomal dominant. An important gene associated with Spastic Paraplegia 1 is L1CAM (L1 Cell Adhesion Molecule).

Related Diseases for Spastic Paraplegia 1

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67

Diseases related to Spastic Paraplegia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 masa syndrome 11.9
2 spastic paraplegia 3, autosomal dominant 11.0

Symptoms & Phenotypes for Spastic Paraplegia 1

Drugs & Therapeutics for Spastic Paraplegia 1

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 1

Genetic Tests for Spastic Paraplegia 1

Genetic tests related to Spastic Paraplegia 1:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 1 29 L1CAM

Anatomical Context for Spastic Paraplegia 1

Publications for Spastic Paraplegia 1

Articles related to Spastic Paraplegia 1:

(show all 20)
# Title Authors Year
1
First case of L1CAM gene mutation identified in MASA syndrome in Asia. ( 15904436 )
2005
2
MASA syndrome: ultrasonographic evidence in a male fetus. ( 11113917 )
2000
3
Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1. ( 8636066 )
1996
4
X linked hydrocephalus and MASA syndrome. ( 8825051 )
1996
5
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. ( 7562969 )
1995
6
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. ( 7645588 )
1995
7
New domains of neural cell-adhesion molecule L1 implicated in X- linked hydrocephalus and MASA syndrome. ( 7762552 )
1995
8
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. ( 7920660 )
1994
9
Clinical aspects of the MASA syndrome in a large family, including expressing females. ( 8062435 )
1994
10
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
11
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. ( 7920659 )
1994
12
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
13
Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28. ( 8062432 )
1994
14
Agenesis of the corpus callosum associated with MASA syndrome. ( 8305964 )
1993
15
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
16
MASA syndrome: delineation of the clinical spectrum at prepubertal age. ( 1605218 )
1992
17
MASA syndrome. ( 1424231 )
1992
18
Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28. ( 1605219 )
1992
19
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
20
MASA syndrome: clinical variability and linkage analysis. ( 1951449 )
1991

Variations for Spastic Paraplegia 1

ClinVar genetic disease variations for Spastic Paraplegia 1:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 L1CAM NM_000425.4(L1CAM): c.630C> A (p.His210Gln) single nucleotide variant Pathogenic rs28933683 GRCh37 Chromosome X, 153136309: 153136309
2 L1CAM NM_000425.4(L1CAM): c.630C> A (p.His210Gln) single nucleotide variant Pathogenic rs28933683 GRCh38 Chromosome X, 153870854: 153870854
3 L1CAM NM_000425.4(L1CAM): c.1792G> A (p.Asp598Asn) single nucleotide variant Pathogenic rs137852519 GRCh37 Chromosome X, 153133489: 153133489
4 L1CAM NM_000425.4(L1CAM): c.1792G> A (p.Asp598Asn) single nucleotide variant Pathogenic rs137852519 GRCh38 Chromosome X, 153868034: 153868034
5 L1CAM NM_000425.4(L1CAM): c.3489_3490delTG (p.Glu1164Glyfs) deletion Pathogenic rs879253714 GRCh37 Chromosome X, 153128972: 153128973
6 L1CAM NM_000425.4(L1CAM): c.3489_3490delTG (p.Glu1164Glyfs) deletion Pathogenic rs879253714 GRCh38 Chromosome X, 153863517: 153863518
7 L1CAM NM_000425.4(L1CAM): c.3581C> T (p.Ser1194Leu) single nucleotide variant Pathogenic rs137852522 GRCh37 Chromosome X, 153128311: 153128311
8 L1CAM NM_000425.4(L1CAM): c.3581C> T (p.Ser1194Leu) single nucleotide variant Pathogenic rs137852522 GRCh38 Chromosome X, 153862856: 153862856
9 L1CAM NM_000425.4(L1CAM): c.536T> G (p.Ile179Ser) single nucleotide variant Pathogenic rs137852523 GRCh37 Chromosome X, 153136403: 153136403
10 L1CAM NM_000425.4(L1CAM): c.536T> G (p.Ile179Ser) single nucleotide variant Pathogenic rs137852523 GRCh38 Chromosome X, 153870948: 153870948
11 L1CAM NM_000425.4(L1CAM): c.1108G> A (p.Gly370Arg) single nucleotide variant Pathogenic rs137852524 GRCh37 Chromosome X, 153135273: 153135273
12 L1CAM NM_000425.4(L1CAM): c.1108G> A (p.Gly370Arg) single nucleotide variant Pathogenic rs137852524 GRCh38 Chromosome X, 153869818: 153869818

Expression for Spastic Paraplegia 1

Search GEO for disease gene expression data for Spastic Paraplegia 1.

Pathways for Spastic Paraplegia 1

GO Terms for Spastic Paraplegia 1

Sources for Spastic Paraplegia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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