MCID: MSS001
MIFTS: 53

Masa Syndrome

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

Aliases & Classifications for Masa Syndrome

MalaCards integrated aliases for Masa Syndrome:

Name: Masa Syndrome 54 12 24 56 71 52 14 69
Crash Syndrome 54 12 50 24 25 56 13
L1 Syndrome 12 23 50 24 25 56 29
X-Linked Hydrocephalus Syndrome 25 29 69
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome 50 56
X-Linked Corpus Callosum Agenesis 12 24
L1cam Syndrome 50 56
L1 Spectrum 23 24
L1 Disease 23 24
Spg1 12 71
Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome 25
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 56
Mental Retardation, Adducted Thumbs, Shuffling Gait and Aphasia 24
X-Linked Complicated Hereditary Spastic Paraplegia Type 1 12
Adducted Thumbs-Mental Retardation Syndrome 25
Mental Retardation-Clasped Thumb Syndrome 25
Adducted Thumb with Mental Retardation 71
Clasped Thumb and Mental Retardation 71
Hereditary Spastic Paraplegia 1 12
Spastic Paraplegia 1, X-Linked 71
X-Linked Spastic Paraplegia 1 12
Gareis-Mason Syndrome 12
Spastic Paraplegia 1 71
Masa Syndrome 42
Crash 71
Masa 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
x-linked recessive

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


HPO:

32
masa syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Masa Syndrome

OMIM : 54
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 crash syndrome, is related to sleep apnea and telogen effluvium, and has symptoms including short stature, ventriculomegaly and hyperreflexia. An important gene associated with Masa Syndrome is L1CAM (L1 Cell Adhesion Molecule). The drugs Glycine and Sivelestat have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and lung.

NIH Rare Diseases : 50 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.

Genetics Home Reference : 25 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.

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.

GeneReviews: NBK1484

Related Diseases for Masa Syndrome

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 sleep apnea 11.2
2 telogen effluvium 11.2
3 hydrocephalus due to congenital stenosis of aqueduct of sylvius 11.0
4 x-linked complicated spastic paraplegia type 1 11.0
5 barth syndrome 10.8
6 spastic paraplegia 1 10.8
7 hydrocephalus 10.2
8 spasticity 10.1
9 paraplegia 10.1
10 rett syndrome, congenital variant 10.1 ATL1 SPG11
11 spastic paraplegia 13 9.9 SPAST SPG11
12 neuropathy, distal hereditary motor, type va 9.9 ATL1 SPAST
13 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 9.8 ATL1 REEP1 SPAST
14 cerebral palsy, spastic quadriplegic, 3 9.7 AP5Z1 REEP1 SPAST
15 methylmalonic aciduria and homocystinuria, cblj type 9.7 AP5Z1 SPG11
16 spastic paraplegia 44, autosomal recessive 9.6 AP5Z1 ERLIN2
17 myoclonus, intractable, neonatal 9.6 AP5Z1 ATL1 REEP1 SPG11
18 spastic paraplegia 31, autosomal dominant 9.5 AP5Z1 ATL1 REEP1 SPAST
19 spastic paraplegia 47, autosomal recessive 9.5 AP5Z1 ERLIN2 REEP1
20 immunodeficiency 15 9.4 AP5Z1 ERLIN2 REEP1
21 b-cell expansion with nfkb and t-cell anergy 9.4 AP5Z1 ERLIN2 SPG11
22 neuropathy, hereditary sensory, type iic 9.4 AP5Z1 ERLIN2 REEP1
23 boucher-neuhauser syndrome 9.3 AP5Z1 ERLIN2 REEP1
24 hirschsprung disease 8 9.3 AP5Z1 ERLIN2 SPG11
25 phosphoribosylpyrophosphate synthetase superactivity 9.2 AP5Z1 ATL1 ERLIN2 REEP1
26 leukodystrophy, hypomyelinating, 4 9.0 AP5Z1 ATL1 ERLIN2 SPAST
27 hereditary spastic paraplegia 62 8.9 ATL1 NIPA1 REEP1 SPAST SPG11
28 congenital cataracts, hearing loss, and neurodegeneration 8.9 AP5Z1 ERLIN2 NIPA1 REEP1
29 pediatric ovarian germ cell tumor 8.9 ATL1 NIPA1 REEP1 SPAST SPG11
30 ichthyosis, congenital, autosomal recessive 14 8.7 AP5Z1 ATL1 ERLIN2 REEP1 SPAST
31 human venous malformation 8.6 ATL1 L1CAM NIPA1 REEP1 SPAST SPG11
32 spastic paraplegia 4, autosomal dominant 8.5 AP5Z1 ATL1 NIPA1 REEP1 SPAST SPG11
33 ritscher-schinzel syndrome 1 8.2 AP5Z1 ATL1 ERLIN2 NIPA1 REEP1 SPG11
34 chromosome 15q11.2 deletion syndrome 8.1 AP5Z1 ATL1 ERLIN2 NIPA1 REEP1 SPAST
35 major affective disorder 2 6.5 AP5Z1 ASRGL1 ATL1 C12orf65 ERLIN2 L1CAM

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:

54

Neurologic- Central Nervous System:
mental retardation
hydrocephalus
shuffling gait
agenesis of the corpus callosum
lower limb spasticity
more
Head And Neck- Head:
microcephaly
macrocephaly

Skeletal- Feet:
talipes equinovarus
pes cavus

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

Head And Neck- Eyes:
strabismus

Skeletal- Spine:
kyphosis
lordosis

Skeletal- Hands:
adducted thumbs


Clinical features from OMIM:

303350

Human phenotypes related to Masa Syndrome:

56 32 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
3 hyperreflexia 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001347
4 spasticity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001257
5 spastic paraplegia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001258
6 headache 56 32 hallmark (90%) Very frequent (99-80%) HP:0002315
7 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 hydrocephalus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000238
9 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 depression 56 32 hallmark (90%) Very frequent (99-80%) HP:0000716
11 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001249
12 agenesis of corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0001274
13 aphasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002381
14 aqueductal stenosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002410
15 gait disturbance 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001288
16 language impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002463
17 delayed speech and language development 56 32 hallmark (90%) Very frequent (99-80%) HP:0000750
18 aganglionic megacolon 56 32 occasional (7.5%) Occasional (29-5%) HP:0002251
19 nausea and vomiting 56 32 hallmark (90%) Very frequent (99-80%) HP:0002017
20 adducted thumb 56 32 frequent (33%) Frequent (79-30%) HP:0001181
21 skeletal muscle atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003202
22 hemiplegia/hemiparesis 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004374
23 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
24 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
25 hand clenching 56 32 hallmark (90%) Very frequent (99-80%) HP:0001188
26 strabismus 32 HP:0000486
27 microcephaly 32 HP:0000252
28 kyphosis 32 HP:0002808
29 shuffling gait 32 HP:0002362
30 talipes equinovarus 32 HP:0001762
31 macrocephaly 32 HP:0000256
32 pes cavus 32 HP:0001761
33 hyperlordosis 32 HP:0003307

UMLS symptoms related to Masa Syndrome:


muscle spasticity

Drugs & Therapeutics for Masa Syndrome

Drugs for Masa Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycine Approved, Nutraceutical, Vet_approved Phase 4 56-40-6 750
2 Sivelestat Investigational Phase 4 127373-66-4
3 HIV Protease Inhibitors Phase 4
4 Neurotransmitter Agents Phase 4
5
protease inhibitors Phase 4
6 Serine Proteinase Inhibitors Phase 4
7 serine Nutraceutical Phase 4
8
Menthol Approved Phase 3 2216-51-5 16666
9 Antipruritics Phase 3
10 Dermatologic Agents Phase 3
11 Antibodies Phase 3
12 Antibodies, Monoclonal Phase 3
13 Immunoglobulins Phase 3
14 Vaccines Phase 3
15
Itraconazole Approved, Investigational Phase 1, Phase 2 84625-61-6 55283
16
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
17
Iron Approved Phase 2 7439-89-6 23925
18
Alprostadil Approved, Investigational Phase 2 745-65-3 149351
19
Entecavir Approved, Investigational Phase 2 142217-69-4 153941
20
Nitric Oxide Approved Phase 2 10102-43-9 145068
21 Staurosporine Experimental Phase 1, Phase 2 62996-74-1
22
Maleic acid Experimental Phase 2 110-16-7 444266
23 4'-N-benzoylstaurosporine Phase 1, Phase 2
24 Antifungal Agents Phase 1, Phase 2
25 Anti-Infective Agents Phase 1, Phase 2
26 Cytochrome P-450 CYP3A Inhibitors Phase 1, Phase 2
27 Cytochrome P-450 Enzyme Inhibitors Phase 1, Phase 2
28 Hormone Antagonists Phase 1, Phase 2
29 Hormones Phase 1, Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
31 Hydroxyitraconazole Phase 1, Phase 2
32 Protein Kinase Inhibitors Phase 1, Phase 2
33 Steroid Synthesis Inhibitors Phase 1, Phase 2
34 insulin Phase 2
35 Insulin, Globin Zinc Phase 2
36 Micronutrients Phase 2
37 Trace Elements Phase 2
38 Antiviral Agents Phase 2
39 Liver Extracts Phase 2
40 Mitogens Phase 2
41 Vitamins Phase 2
42 Platelet Aggregation Inhibitors Phase 2
43 Vasodilator Agents Phase 2
44 tyrosine Nutraceutical Phase 1, Phase 2
45
Ethanol Approved 64-17-5 702
46
Misoprostol Approved 59122-46-2 5282381
47 Hypnotics and Sedatives
48 Aromatase Inhibitors
49 Estrogen Antagonists
50 Estrogens

Interventional clinical trials:

(show all 20)

id Name Status NCT ID Phase Drugs
1 Study of Sivelestat Sodium Hydrate in Acute Lung Injury (ALI) Associated With Systemic Inflammatory Response Syndrome (SIRS) in Japan Completed NCT00219375 Phase 4 Sivelestat sodium hydrate;Sivelestat sodium hydrate
2 Cost-effectiveness of Home Respiratory Polygraphy Completed NCT01752556 Phase 3
3 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01576367 Phase 3
4 Extension to the Study of Efficacy of CDZ173 in Patients With APDS/PASLI Recruiting NCT02859727 Phase 2, Phase 3 CDZ173
5 PKC412 in Participants With Acute Myeloid Leukemia or With Myelodysplastic Syndrome (CPKC412A2104 Core); and PKC412 in Participants With Acute Myeloid Leukemia or With Myelodysplastic Syndrome With Either Wild Type or Mutated FMS-like Tyrosine Kinase 3 (F Completed NCT00045942 Phase 1, Phase 2 Itraconazole;PKC412
6 Cytochrome P450 2E1 and Iron Overload Completed NCT00138684 Phase 2
7 The Efficacy and Safety of Entecavir Treatment of Patients With Acute on Chronic Hepatitis B Liver Failure Completed NCT01254994 Phase 2 entecavir;Traditional comprehensive medical treatment
8 Vicriviroc (SCH 417690) in Combination Treatment With Optimized ART Regimen in Experienced Subjects (VICTOR-E1) (Study P03672AM6) Completed NCT00243230 Phase 2 Vicriviroc maleate 20 mg;Vicriviroc maleate 30 mg;Placebo
9 Inhaled Prostaglandin E1 (IPGE1) for Hypoxemic Respiratory Failure (NHRF) Terminated NCT01467076 Phase 2 Aerosolized Normal Saline;Inhaled PGE1
10 Inhaled PGE1 in Neonatal Hypoxemic Respiratory Failure Withdrawn NCT00598429 Phase 2 Inhaled Prostaglandin E1
11 Phase I Pilot Study of Ad5-CB-CFTR, an Adenovirus Vector Containing the Cystic Fibrosis Transmembrane Conductance Regulator Gene, in Patients With Cystic Fibrosis Completed NCT00004779 Phase 1
12 Effects of Whole-body Vibration Training on Body Composition in Adolescents With and Without Down Syndrome Completed NCT02380638
13 Alternative of Treatment in Obesity Hypoventilation Syndrome Completed NCT01405976
14 Home Nasal Pressure for Sleep Apnea Management in Primary Case Completed NCT02141165
15 Cost/Effectiveness Analysis of the Respiratory Poligraphy at Home Completed NCT00614952
16 Obstructive Sleep Apneas in Elderly:Neuroimaging Changes and Neurocognitive Function Before and After Treatment Completed NCT01826032
17 A Cohort Study to Evaluate Genetic Predictors of Aromatase Inhibitor Musculoskeletal Symptoms Recruiting NCT02874222
18 Vaginal Misoprostol to Improve the Neonatal Respiratory Outcome Recruiting NCT03239327 Misoprostol
19 Genetic Determinism of Epithelial Barrier Defects in Irritable Bowel Syndrome Not yet recruiting NCT02841878
20 Celecoxib in Managing Pain, Weight Loss, and Weakness in Patients With Advanced Cancer Withdrawn NCT00093678 celecoxib

Search NIH Clinical Center for Masa Syndrome

Cochrane evidence based reviews: masa syndrome

Genetic Tests for Masa Syndrome

Genetic tests related to Masa Syndrome:

id Genetic test Affiliating Genes
1 L1 Syndrome 29 24 L1CAM
2 X-Linked Hydrocephalus Syndrome 29
3 Masa Syndrome 24
4 X-Linked Corpus Callosum Agenesis 24

Anatomical Context for Masa Syndrome

MalaCards organs/tissues related to Masa Syndrome:

39
Testes, Liver, Lung, Brain, Skeletal Muscle, Myeloid

Publications for Masa Syndrome

Articles related to Masa Syndrome:

(show all 20)
id 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
New domains of neural cell-adhesion molecule L1 implicated in X- linked hydrocephalus and MASA syndrome. ( 7762552 )
1995
7
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. ( 7645588 )
1995
8
Clinical aspects of the MASA syndrome in a large family, including expressing females. ( 8062435 )
1994
9
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. ( 7920659 )
1994
10
Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28. ( 8062432 )
1994
11
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. ( 7920660 )
1994
12
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
13
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
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
Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28. ( 1605219 )
1992
17
MASA syndrome. ( 1424231 )
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)
id 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
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
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)
id 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

GO Terms for Masa Syndrome

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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