MCID: SPS020
MIFTS: 22

Spastic Paraplegia 1

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 1

MalaCards integrated aliases for Spastic Paraplegia 1:

Name: Spastic Paraplegia 1 53 29 6
Masa Syndrome 53 72
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:



External Ids:

UMLS 72 C0795953

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: 2466DefinitionA X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, 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 x-linked complicated spastic paraplegia type 1. An important gene associated with Spastic Paraplegia 1 is L1CAM (L1 Cell Adhesion Molecule). Affiliated tissues include kidney.

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, Autosomal Recessive 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
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 47
Spastic Paraplegia 51 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia Type 49
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
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 Autosomal Dominant Spastic Paraplegia Type 9b

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 masa syndrome 12.1
2 x-linked complicated spastic paraplegia type 1 11.6
3 spastic paraplegia 3, autosomal dominant 11.3
4 hydrocephalus 10.6
5 congenital hydrocephalus 10.6
6 aphasia 10.5
7 paraplegia 10.5
8 hereditary spastic paraplegia 10.2
9 x-linked complex spastic paraplegia 10.2
10 adducted thumbs syndrome 10.1
11 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
12 thumbs, congenital clasped 10.1
13 hydrocephalus with stenosis of the aqueduct of sylvius 10.1
14 corpus callosum, agenesis of 10.0
15 opitz-kaveggia syndrome 10.0
16 scoliosis 10.0
17 spastic paraparesis 10.0
18 spasticity 10.0
19 hirschsprung disease 1 9.8
20 hydrocephalus, congenital, 1 9.8
21 alacrima, achalasia, and mental retardation syndrome 9.8
22 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.8

Graphical network of the top 20 diseases related to Spastic Paraplegia 1:



Diseases related to Spastic Paraplegia 1

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

MalaCards organs/tissues related to Spastic Paraplegia 1:

41
Kidney

Publications for Spastic Paraplegia 1

Articles related to Spastic Paraplegia 1:

(show all 46)
# Title Authors PMID Year
1
Three cases with L1 syndrome and two novel mutations in the L1CAM gene. 38
25948108 2015
2
L1CAM whole gene deletion in a child with L1 syndrome. 38
24668863 2014
3
Novel mutations in the L1CAM gene support the complexity of L1 syndrome. 38
20447653 2010
4
L1CAM mutation in a boy with hydrocephalus and duplex kidneys. 38
17294222 2007
5
First case of L1CAM gene mutation identified in MASA syndrome in Asia. 38
15904436 2005
6
L1 Syndrome 38
20301657 2004
7
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. 38
11772994 2002
8
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. 38
11438988 2001
9
MASA syndrome: ultrasonographic evidence in a male fetus. 38
11113917 2000
10
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 38
9643285 1998
11
Genotype-phenotype correlation in L1 associated diseases. 38
9610803 1998
12
The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu. 38
9479034 1998
13
L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. 38
9440802 1997
14
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22. 38
9222959 1997
15
CRASH syndrome: mutations in L1CAM correlate with severity of the disease. 38
9266556 1997
16
L1-associated diseases: clinical geneticists divide, molecular geneticists unite. 38
9300653 1997
17
Nine novel L1 CAM mutations in families with X-linked hydrocephalus. 38
9195224 1997
18
[X-chromosomal recessive hydrocephalus internus: a separate disease picture? 2 further case reports and review of the literature]. 38
8676603 1996
19
Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1. 38
8636066 1996
20
A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus. 38
8786080 1996
21
X linked hydrocephalus and MASA syndrome. 38
8825051 1996
22
Cell-adhesion proteins of the immunoglobulin superfamily in the nervous system. 38
9078456 1996
23
X-linked myotubular myopathy: clinical observations in ten additional cases. 38
8588581 1995
24
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. 38
7562969 1995
25
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. 38
7762552 1995
26
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. 38
7645588 1995
27
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. 38
8556302 1995
28
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. 38
7881431 1994
29
Neural cell adhesion proteins and neurological diseases. 38
7706205 1994
30
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. 38
7920660 1994
31
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 38
7920659 1994
32
Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28. 38
8062432 1994
33
Clinical aspects of the MASA syndrome in a large family, including expressing females. 38
8062435 1994
34
The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families. 38
8031529 1994
35
Agenesis of the corpus callosum associated with MASA syndrome. 38
8305964 1993
36
[The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?]. 38
7516145 1993
37
MASA syndrome. 38
1424231 1992
38
X-linked hydrocephalus: clinical heterogeneity at a single gene locus. 38
1396913 1992
39
MASA syndrome: delineation of the clinical spectrum at prepubertal age. 38
1605218 1992
40
Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28. 38
1605219 1992
41
MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families. 38
1552562 1992
42
MASA syndrome: clinical variability and linkage analysis. 38
1951449 1991
43
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. 38
1870106 1991
44
MASA syndrome: new clinical features and linkage analysis using DNA probes. 38
2277384 1990
45
MASA syndrome: further clinical delineation and chromosomal localisation. 38
2737668 1989
46
The MASA syndrome: a new heritable mental retardation syndrome. 38
4855169 1974

Variations for Spastic Paraplegia 1

ClinVar genetic disease variations for Spastic Paraplegia 1:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 L1CAM NM_000425.5(L1CAM): c.3489_3490del (p.Glu1164fs) deletion Pathogenic rs879253714 X:153128972-153128973 X:153863517-153863518
2 L1CAM NM_000425.5(L1CAM): c.630C> A (p.His210Gln) single nucleotide variant Pathogenic rs28933683 X:153136309-153136309 X:153870854-153870854
3 L1CAM NM_000425.5(L1CAM): c.1792G> A (p.Asp598Asn) single nucleotide variant Pathogenic rs137852519 X:153133489-153133489 X:153868034-153868034
4 L1CAM NM_000425.5(L1CAM): c.3581C> T (p.Ser1194Leu) single nucleotide variant Pathogenic rs137852522 X:153128311-153128311 X:153862856-153862856
5 L1CAM NM_000425.5(L1CAM): c.536T> G (p.Ile179Ser) single nucleotide variant Pathogenic rs137852523 X:153136403-153136403 X:153870948-153870948
6 L1CAM NM_000425.5(L1CAM): c.1108G> A (p.Gly370Arg) single nucleotide variant Pathogenic rs137852524 X:153135273-153135273 X:153869818-153869818
7 L1CAM NM_000425.5(L1CAM): c.3654G> C (p.Gln1218His) single nucleotide variant Uncertain significance rs1369743518 X:153128238-153128238 X:153862783-153862783

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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