MCID: MSS001
MIFTS: 46

Masa Syndrome

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Masa Syndrome

MalaCards integrated aliases for Masa Syndrome:

Name: Masa Syndrome 53 12 72 55 71 51 14 69
L1 Syndrome 12 23 49 24 55 36 28
Crash Syndrome 53 12 49 24 55 13
X-Linked Hydrocephalus Syndrome 24 28 69
Spg1 53 12 71
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome 49 55
Adducted Thumb with Mental Retardation 53 71
Clasped Thumb and Mental Retardation 53 71
Spastic Paraplegia 1, X-Linked 53 71
Gareis-Mason Syndrome 53 12
L1cam Syndrome 49 55
Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome 24
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus 71
Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs Syndrome 71
Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome 55
Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs 53
X-Linked Complicated Hereditary Spastic Paraplegia Type 1 12
Thumb, Congenital Clasped, with Mental Retardation 53
Adducted Thumbs-Mental Retardation Syndrome 24
Mental Retardation-Clasped Thumb Syndrome 24
Spastic Paraplegia 1, X-Linked; Spg1 53
Spastic Paraplegia Type 1, X-Linked 72
X-Linked Corpus Callosum Agenesis 12
Hereditary Spastic Paraplegia 1 12
X-Linked Spastic Paraplegia 1 12
Spastic Paraplegia 1 71
Masa Syndrome 41
L1 Spectrum 23
L1 Disease 23
Crash 71
Masa 71

Characteristics:

Orphanet epidemiological data:

55
masa syndrome
Inheritance: X-linked recessive; Age of onset: Neonatal;
l1 syndrome
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
x-linked recessive

Miscellaneous:
masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia
crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases


HPO:

31
masa syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Masa Syndrome

OMIM : 53 The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see 182600), and autosomal recessive (see 270800) forms of SPG have been described. Spastic paraplegia-1 is usually called MASA syndrome, the designation originally suggested by Bianchine and Lewis (1974), because the main clinical features are summarized by the acronym MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs). The shuffling gait is probably caused by spasticity of the lower limbs, and all affected males have been reported to have increased reflexes. The adducted thumbs are thought to be caused by hypoplastic or absent extensor pollicis longus or brevis muscles. In affected males, the onset of speech is delayed (Winter et al., 1989). See 314100 for isolated X-linked congenital clasped thumb and 201550 for an autosomal adducted thumbs syndrome. (303350)

MalaCards based summary : Masa Syndrome, also known as l1 syndrome, is related to paraplegia and spastic paraplegia 1, and has symptoms including headache, seizures and nausea and vomiting. An important gene associated with Masa Syndrome is L1CAM (L1 Cell Adhesion Molecule), and among its related pathways/superpathways are Axon guidance and Cell adhesion molecules (CAMs). Affiliated tissues include testes, brain and skeletal muscle.

Disease Ontology : 12 A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.

Genetics Home Reference : 24 L1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. These conditions vary in severity and include, from most severe to least, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.

NIH Rare Diseases : 49 L1 syndrome is a mild to severe congenital disorder with hydrocephalus of varying degrees of severity, intellectual disability, spasticity of the legs, and adducted thumbs. It includes several conditions, some more severe than others: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) - the most severe of all; MASA syndrome (intellectual disability, aphasia (delayed speech), spastic paraplegia (shuffling gait), adducted thumbs); SPG1 (X-linked complicated hereditary spastic paraplegia type 1) X-linked complicated corpus callosum agenesis. It is inherited in an X-linked manner; therefore, it only affects males. It is caused by alterations (mutations) in L1CAM gene. The diagnosis is made in males who have the clinical and neurologic findings and a family history consistent with X-linked inheritance and is confirmed by a genetic test showing the L1CAM gene mutation. The treatment involves doing a surgery for the hydrocephalus. Last updated: 4/24/2015

UniProtKB/Swiss-Prot : 71 Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome: An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, mental retardation, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family. Spastic paraplegia 1, X-linked: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

Wikipedia : 72 MASA syndrome, also called CRASH syndrome, Gareis-Mason syndrome, L1 syndrome, spastic paraplegia 1 is a... more...

GeneReviews: NBK1484

Related Diseases for Masa Syndrome

Diseases related to Masa Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 paraplegia 29.0 ATL1 NIPA1 REEP1 SPAST SPG11
2 spastic paraplegia 1 11.5
3 x-linked complicated spastic paraplegia type 1 11.3
4 sleep apnea 11.3
5 telogen effluvium 11.3
6 hydrocephalus due to congenital stenosis of aqueduct of sylvius 11.1
7 hydrocephalus 10.3
8 spasticity 10.2
9 spastic paraplegia 32, autosomal recessive 10.1 ATL1 SPG11
10 charcot-marie-tooth disease, axonal, type 2d 10.0 ATL1 SPAST
11 spastic paraplegia 15, autosomal recessive 9.9 AP5Z1 SPG11
12 spastic paraplegia 61, autosomal recessive 9.8 ATL1 REEP1 SPAST
13 aging 9.8
14 spastic paraplegia 44, autosomal recessive 9.8 AP5Z1 ERLIN2
15 spastic paraplegia 33, autosomal dominant 9.8 AP5Z1 REEP1 SPAST
16 spastic paraplegia 39, autosomal recessive 9.7 AP5Z1 ERLIN2
17 spastic paraplegia 30, autosomal recessive 9.7 AP5Z1 ERLIN2
18 spastic paraparesis 9.7 SPAST SPG11
19 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 9.7 NIPA1 SPAST SPG11
20 spastic paraplegia 10, autosomal dominant 9.7 AP5Z1 ATL1 REEP1 SPG11
21 spastic paraplegia 7, autosomal recessive 9.6 NIPA1 SPAST SPG11
22 spastic paraplegia 20, autosomal recessive 9.6 NIPA1 SPAST SPG11
23 spastic paraplegia 31, autosomal dominant 9.6 AP5Z1 ATL1 REEP1 SPAST
24 spastic paraplegia 48, autosomal recessive 9.6 AP5Z1 ERLIN2 SPG11
25 spastic paraplegia 47, autosomal recessive 9.5 AP5Z1 ERLIN2 REEP1
26 spastic paraplegia 35, autosomal recessive 9.5 AP5Z1 ERLIN2 SPG11
27 spastic paraplegia 18, autosomal recessive 9.4 AP5Z1 ERLIN2 NIPA1
28 spastic paraplegia 2, x-linked 9.3 AP5Z1 ATL1 ERLIN2 REEP1
29 spastic paraplegia 13, autosomal dominant 9.3 AP5Z1 ATL1 ERLIN2 SPAST
30 spastic paraplegia 4, autosomal dominant 9.2 ATL1 NIPA1 REEP1 SPAST SPG11
31 spastic paraplegia 3, autosomal dominant 9.2 ATL1 NIPA1 REEP1 SPAST SPG11
32 spastic paraplegia 42, autosomal dominant 9.1 AP5Z1 ERLIN2 NIPA1 REEP1
33 spastic paraplegia 12, autosomal dominant 9.0 AP5Z1 ATL1 ERLIN2 REEP1 SPAST
34 spastic paraplegia 8, autosomal dominant 8.6 AP5Z1 ATL1 ERLIN2 NIPA1 REEP1 SPG11
35 spastic paraplegia 6, autosomal dominant 8.5 AP5Z1 ATL1 ERLIN2 NIPA1 REEP1 SPAST
36 hereditary spastic paraplegia 8.0 AP5Z1 ATL1 ERLIN2 L1CAM NIPA1 REEP1

Graphical network of the top 20 diseases related to Masa Syndrome:



Diseases related to Masa Syndrome

Symptoms & Phenotypes for Masa Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly
microcephaly

Skeletal Spine:
kyphosis
lordosis

Skeletal Feet:
pes cavus
talipes equinovarus

Growth Height:
short stature (<5-15th percentile)

Neurologic Central Nervous System:
hydrocephalus
aphasia
lower limb spasticity
shuffling gait
agenesis of the corpus callosum
more
Head And Neck Eyes:
strabismus

Skeletal Hands:
adducted thumbs


Clinical features from OMIM:

303350

Human phenotypes related to Masa Syndrome:

55 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 55 31 hallmark (90%) Very frequent (99-80%) HP:0002315
2 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
3 nausea and vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002017
4 agenesis of corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0001274
5 hydrocephalus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000238
6 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001249
7 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
8 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001288
9 hyperreflexia 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001347
10 aqueductal stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002410
11 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
12 delayed speech and language development 55 31 hallmark (90%) Very frequent (99-80%) HP:0000750
13 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
14 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
15 hemiplegia/hemiparesis 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004374
16 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
17 aphasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002381
18 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
19 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
20 adducted thumb 55 31 frequent (33%) Frequent (79-30%) HP:0001181
21 spastic paraplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001258
22 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
23 hand clenching 55 31 hallmark (90%) Very frequent (99-80%) HP:0001188
24 language impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002463
25 macrocephaly 31 HP:0000256
26 depression 55 Very frequent (99-80%)
27 kyphosis 31 HP:0002808
28 hyperlordosis 31 HP:0003307
29 microcephaly 31 HP:0000252
30 strabismus 31 HP:0000486
31 pes cavus 31 HP:0001761
32 talipes equinovarus 31 HP:0001762
33 shuffling gait 31 HP:0002362
34 depressivity 31 hallmark (90%) HP:0000716

UMLS symptoms related to Masa Syndrome:


muscle spasticity

Drugs & Therapeutics for Masa Syndrome

Search Clinical Trials , NIH Clinical Center for Masa Syndrome

Cochrane evidence based reviews: masa syndrome

Genetic Tests for Masa Syndrome

Genetic tests related to Masa Syndrome:

# Genetic test Affiliating Genes
1 L1 Syndrome 28
2 X-Linked Hydrocephalus Syndrome 28 L1CAM

Anatomical Context for Masa Syndrome

MalaCards organs/tissues related to Masa Syndrome:

38
Testes, Brain, Skeletal Muscle

Publications for Masa Syndrome

Articles related to Masa Syndrome:

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

Variations for Masa Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Masa Syndrome:

71 (show all 19)
# Symbol AA change Variation ID SNP ID
1 L1CAM p.Ile179Ser VAR_003923 rs137852523
2 L1CAM p.His210Gln VAR_003926 rs28933683
3 L1CAM p.Glu309Lys VAR_003930 rs367665974
4 L1CAM p.Trp335Arg VAR_003931
5 L1CAM p.Gly370Arg VAR_003932 rs137852524
6 L1CAM p.Arg473Cys VAR_003936 rs886039408
7 L1CAM p.Asp598Asn VAR_003937 rs137852519
8 L1CAM p.Arg632Pro VAR_003938
9 L1CAM p.Ala691Asp VAR_003939
10 L1CAM p.Gly698Arg VAR_003940 rs886039409
11 L1CAM p.Pro941Leu VAR_003945
12 L1CAM p.Ser1194Leu VAR_003947 rs137852522
13 L1CAM p.Val752Met VAR_014421 rs137852525
14 L1CAM p.Ser674Cys VAR_027513
15 L1CAM p.Asp770Asn VAR_027514 rs148516831
16 L1CAM p.Asp202Tyr VAR_030405
17 L1CAM p.Gly268Asp VAR_030406
18 L1CAM p.Ala426Asp VAR_030410
19 L1CAM p.Leu482Pro VAR_030411

ClinVar genetic disease variations for Masa Syndrome:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 L1CAM NM_000425.4(L1CAM): c.2432-19A> C single nucleotide variant Pathogenic rs879253713 GRCh37 Chromosome X, 153131293: 153131293
2 L1CAM NM_000425.4(L1CAM): c.791G> A (p.Cys264Tyr) single nucleotide variant Pathogenic rs137852518 GRCh37 Chromosome X, 153135858: 153135858
3 L1CAM L1CAM, 1.3-KB DUP duplication Pathogenic
4 L1CAM NM_000425.4(L1CAM): c.630C> A (p.His210Gln) single nucleotide variant Pathogenic rs28933683 GRCh37 Chromosome X, 153136309: 153136309
5 L1CAM NM_000425.4(L1CAM): c.1792G> A (p.Asp598Asn) single nucleotide variant Pathogenic rs137852519 GRCh37 Chromosome X, 153133489: 153133489
6 L1CAM NM_000425.4(L1CAM): c.1354G> A (p.Gly452Arg) single nucleotide variant Pathogenic rs137852520 GRCh37 Chromosome X, 153134321: 153134321
7 L1CAM NM_000425.4(L1CAM): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs137852521 GRCh37 Chromosome X, 153136388: 153136388
8 L1CAM NM_000425.4(L1CAM): c.3489_3490delTG (p.Glu1164Glyfs) deletion Pathogenic rs879253714 GRCh37 Chromosome X, 153128972: 153128973
9 L1CAM NM_000425.4(L1CAM): c.3581C> T (p.Ser1194Leu) single nucleotide variant Pathogenic rs137852522 GRCh37 Chromosome X, 153128311: 153128311
10 L1CAM NM_000425.4(L1CAM): c.536T> G (p.Ile179Ser) single nucleotide variant Pathogenic rs137852523 GRCh37 Chromosome X, 153136403: 153136403
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.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs137852526 GRCh37 Chromosome X, 153135930: 153135930
13 L1CAM NM_000425.4(L1CAM): c.3458-1G> C single nucleotide variant Pathogenic rs879253724 GRCh37 Chromosome X, 153129005: 153129005
14 L1CAM NM_000425.4(L1CAM): c.23delT (p.Val8Glyfs) deletion Pathogenic rs398123362 GRCh37 Chromosome X, 153141269: 153141269
15 L1CAM NM_000425.4(L1CAM): c.2879delA (p.Glu960Glyfs) deletion Pathogenic rs398123364 GRCh37 Chromosome X, 153130443: 153130443
16 L1CAM NM_000425.4(L1CAM): c.924C> T (p.Gly308=) single nucleotide variant Pathogenic/Likely pathogenic rs797044787 GRCh37 Chromosome X, 153135578: 153135578
17 L1CAM NM_000425.4(L1CAM): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs875989884 GRCh37 Chromosome X, 153132155: 153132155

Expression for Masa Syndrome

Search GEO for disease gene expression data for Masa Syndrome.

Pathways for Masa Syndrome

Pathways related to Masa Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Axon guidance hsa04360
2 Cell adhesion molecules (CAMs) hsa04514

GO Terms for Masa Syndrome

Cellular components related to Masa Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.46 ATL1 ERLIN2 REEP1 SPAST
2 axon GO:0030424 9.13 ATL1 L1CAM SPG11
3 endoplasmic reticulum tubular network GO:0071782 8.62 ATL1 REEP1

Sources for Masa Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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