MASA
MCID: MSS001
MIFTS: 62

Masa Syndrome (MASA)

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

Aliases & Classifications for Masa Syndrome

MalaCards integrated aliases for Masa Syndrome:

Name: Masa Syndrome 56 12 74 52 58 73 36 54 15 39 71
L1 Syndrome 12 24 52 25 58 36 29 6
Crash Syndrome 56 12 52 25 58 13
X-Linked Hydrocephalus Syndrome 25 29 6 71
Spastic Paraplegia 1 52 73 29 6
Adducted Thumb with Mental Retardation 56 52 73
Clasped Thumb and Mental Retardation 56 52 73
Gareis-Mason Syndrome 56 12 52
Spg1 56 12 73
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome 52 58
Spastic Paraplegia 1, X-Linked 56 73
L1cam Syndrome 52 58
Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome 25
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus 73
Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs Syndrome 73
Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome 58
Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs 56
X-Linked Complicated Hereditary Spastic Paraplegia Type 1 12
Mental Retardation Aphasia Shuffling Gait Adducted Thumbs 52
Thumb, Congenital Clasped, with Mental Retardation 56
Thumb Congenital Clasped with Mental Retardation 52
Adducted Thumbs-Mental Retardation Syndrome 25
Mental Retardation-Clasped Thumb Syndrome 25
Spastic Paraplegia 1, X-Linked; Spg1 56
Spastic Paraplegia Type 1, X-Linked 74
X-Linked Corpus Callosum Agenesis 12
Hereditary Spastic Paraplegia 1 12
X-Linked Spastic Paraplegia 1 12
Masa Syndrome 43
L1 Spectrum 24
L1 Disease 24
Crash 73
Masa 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Masa Syndrome

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. HSAS is an acronym for the characteristic features of the condition: a buildup of fluid in the brain (hydrocephalus) that is often present from before birth, muscle stiffness (spasticity), thumbs that are permanently bent toward the palms (adducted thumbs), and narrowing (stenosis) of a passageway in the brain called the aqueduct of Sylvius. In individuals with HSAS, stenosis of the aqueduct of Sylvius causes hydrocephalus by impeding the flow of cerebrospinal fluid (CSF) out of fluid-filled cavities called ventricles. Individuals with HSAS often have severe intellectual disability and may have seizures. MASA syndrome is also named for the characteristic features of the condition, which are intellectual disability (mental retardation) that can range from mild to moderate, delayed speech (aphasia), spasticity, and adducted thumbs. Individuals with MASA syndrome may have mild enlargement of the ventricles. Spastic paraplegia type 1 is characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the limbs (paraplegia). Affected individuals also have mild to moderate intellectual disability. People with spastic paraplegia type 1 do not usually have major abnormalities in structures of the brain. X-linked complicated corpus callosum agenesis is defined by underdevelopment (hypoplasia) or absence (agenesis) of the tissue that connects the left and right halves of the brain (the corpus callosum). People with this condition can have spastic paraplegia and mild to moderate intellectual disability. The life expectancy of individuals with L1 syndrome varies depending on the severity of the signs and symptoms. Severely affected individuals may survive only a short time after birth, while those with mild features live into adulthood. The conditions that make up L1 syndrome were once thought to be distinct disorders, but since they were found to share a genetic cause, they are now considered to be part of the same syndrome. Family members with L1 syndrome caused by the same mutation may have different forms of the condition.

MalaCards based summary : Masa Syndrome, also known as l1 syndrome, is related to spastic paraplegia 3, autosomal dominant and spasticity, and has symptoms including muscle spasticity 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). The drugs Memantine and Phenytoin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are intellectual disability and spasticity

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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 L1 syndrome comprises a wide variety of X-linked inherited neurodevelopmental disorders caused by mutations in the L1CAM gene, including X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia, spastic paraplegia, adducted thumbs), X-linked complicated hereditary spastic paraplegia type 1, and X-linked partial agenesis of corpus callosum. L1CAM encodes for the L1 cell adhesion molecule (L1-CAM), a member of the immunoglobulin (Ig) superfamily of neural cell adhesion molecules that is expressed in the developing nervous system.

UniProtKB/Swiss-Prot : 73 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 : 74 MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging... more...

GeneReviews: NBK1484

Related Diseases for Masa Syndrome

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

(show top 50) (show all 315)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 31.1 ZFYVE26 WASHC5 SPG11 SPAST RTN2 REEP1
2 spasticity 30.2 WASHC5 SPG7 SPAST REEP1
3 spastic paraparesis 30.2 SPG7 SPG11 SPAST L1CAM
4 hereditary spastic paraplegia 72 29.4 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP1
5 paraplegia 27.6 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
6 hereditary spastic paraplegia 27.1 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
7 sleep apnea 11.6
8 x-linked complicated spastic paraplegia type 1 11.6
9 alcohol use disorder 11.6
10 chronic fatigue syndrome 11.6
11 head injury 10.9
12 hydrocephalus 10.6
13 whiplash 10.6
14 traumatic brain injury 10.6
15 ocular motor apraxia 10.6
16 aphasia 10.5
17 brain injury 10.5
18 spinal cord injury 10.5
19 acute stress disorder 10.4
20 spastic paraplegia 41, autosomal dominant 10.4 SPG21 SPAST
21 post-traumatic stress disorder 10.4
22 neuropathy, hereditary sensory, type id 10.4 KIF5A ATL1
23 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
24 sleep disorder 10.4
25 spastic paraplegia 77, autosomal recessive 10.4 ZFYVE26 SPG11
26 alcohol dependence 10.3
27 spinocerebellar ataxia, autosomal recessive 20 10.3 ZFYVE26 SPG11
28 cataract 10.3
29 spastic paraplegia 63, autosomal recessive 10.3 SPG21 SPG11
30 charcot-marie-tooth disease, axonal, type 2r 10.3 ZFYVE26 SPG21
31 spinal cord neuroblastoma 10.3 ZFYVE27 REEP1
32 spastic paraplegia 49, autosomal recessive 10.3 ZFYVE26 SPG21 SPG11
33 spinal cord primitive neuroectodermal neoplasm 10.3 ZFYVE27 REEP1
34 spastic paraplegia 55, autosomal recessive 10.3 ZFYVE26 SPG21 SPG11
35 spastic paraplegia 53, autosomal recessive 10.3 RTN2 ATL1 AP5Z1
36 spastic paraplegia 56, autosomal recessive 10.3 SPG21 SPG11 AP5Z1
37 placental abruption 10.3
38 spastic paraplegia 34, x-linked 10.3 ZFYVE26 WASHC5 SPG21
39 spastic paraplegia 57, autosomal recessive 10.3 SPG11 REEP1 KIF5A
40 primary lateral sclerosis, adult, 1 10.3 SPG7 SPAST
41 spastic paraplegia 29, autosomal dominant 10.3 ZFYVE26 WASHC5 SPG21
42 spastic paraplegia 37, autosomal dominant 10.3 ZFYVE26 WASHC5 SPG21
43 spastic paraplegia 25, autosomal recessive 10.3 ZFYVE26 WASHC5 SPG21
44 x-linked complex spastic paraplegia 10.2
45 substance abuse 10.2
46 47,xyy 10.2
47 depression 10.2
48 syncope 10.2
49 neuropathy, hereditary sensory, type iic 10.2 SPG21 SPG11 RTN2 REEP1
50 spastic paraplegia 64, autosomal recessive 10.2 SPG7 SPG21 SPG11

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



Diseases related to Masa Syndrome

Symptoms & Phenotypes for Masa Syndrome

Human phenotypes related to Masa Syndrome:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001249
2 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001347
4 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
5 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
6 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001288
7 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
8 aqueductal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002410
9 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
10 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
11 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
12 hemiplegia/hemiparesis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004374
13 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
14 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
15 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
16 hand clenching 58 31 hallmark (90%) Very frequent (99-80%) HP:0001188
17 language impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002463
18 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
19 adducted thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001181
20 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
21 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
22 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
23 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
24 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
25 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
26 macrocephaly 31 HP:0000256
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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
microcephaly

Neurologic Central Nervous System:
hydrocephalus
aphasia
lower limb spasticity
shuffling gait
agenesis of the corpus callosum
more
Skeletal Feet:
pes cavus
talipes equinovarus

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

Skeletal Spine:
kyphosis
lordosis

Head And Neck Eyes:
strabismus

Skeletal Hands:
adducted thumbs

Clinical features from OMIM:

303350

UMLS symptoms related to Masa Syndrome:


muscle spasticity

GenomeRNAi Phenotypes related to Masa Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.6 AP5Z1 ASRGL1 ATL1 BSCL2 CDC7 KIF5A

MGI Mouse Phenotypes related to Masa Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ATL1 BSCL2 KIF5A L1CAM NFASC NRCAM
2 nervous system MP:0003631 9.32 KIF5A L1CAM NFASC NRCAM REEP1 SPAST

Drugs & Therapeutics for Masa Syndrome

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

(show top 50) (show all 131)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 19982-08-2 4054
2
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Norepinephrine Approved Phase 4 51-41-2 439260
5
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
6
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
7
Tranexamic Acid Approved Phase 4 1197-18-8 5526
8 Antiparkinson Agents Phase 4
9 Excitatory Amino Acid Antagonists Phase 4
10 Excitatory Amino Acids Phase 4
11 Sodium Channel Blockers Phase 4
12 Anticonvulsants Phase 4
13 Diuretics, Potassium Sparing Phase 4
14 Neurotransmitter Agents Phase 4
15 Dopamine Agents Phase 4
16 Vasoconstrictor Agents Phase 4
17 Serotonin Agents Phase 4
18 Psychotropic Drugs Phase 4
19 Antidepressive Agents Phase 4
20 Adrenergic Agents Phase 4
21 Autonomic Agents Phase 4
22 Sympathomimetics Phase 4
23 Serotonin Uptake Inhibitors Phase 4
24 Adrenergic Agonists Phase 4
25 Analgesics, Non-Narcotic Phase 4
26 Duloxetine Hydrochloride Phase 4
27 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
28 Analgesics Phase 4
29 Serotonin Receptor Agonists Phase 4
30 Hemostatics Phase 4
31 Antifibrinolytic Agents Phase 4
32 Coagulants Phase 4
33
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
34
Tyramine Investigational, Nutraceutical Phase 4 51-67-2 5610
35
Fibrinolysin Investigational Phase 3 9004-09-5
36 Liver Extracts Phase 3
37 lysine Phase 3
38 Plasminogen Phase 3
39
Mirtazapine Approved Phase 2 85650-52-8, 61337-67-5 4205
40
Histamine Approved, Investigational Phase 2 51-45-6 774
41
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
42
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
43
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
44 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
45
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
46
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 6857599 43805
47
leucovorin Approved Phase 2 58-05-9 6006 143
48
Fluorouracil Approved Phase 2 51-21-8 3385
49
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
50
Panitumumab Approved, Investigational Phase 2 339177-26-3 50070211

Interventional clinical trials:

(show top 50) (show all 82)
# Name Status NCT ID Phase Drugs
1 Brief Intervention to Increase Safety Belt Use Among ED Patients Unknown status NCT00300859 Phase 4
2 Tranexamic Acid in Knee Joint Surgery - a Randomised Controlled Trial Unknown status NCT02278263 Phase 4 Tranexamic Acid;Normal saline (0.9% NaCl)
3 Delaying the Progression of Driving Impairment in Individuals With Mild Alzheimer's Disease Completed NCT00476008 Phase 4 Memantine;Placebo
4 Phenytoin and Driving Safety Completed NCT00581893 Phase 4 Phenytoin
5 Effectiveness of the Norepinephrine and Serotonin Reuptake Inhibitor Levomilnacipran in Healthy Males Recruiting NCT03249311 Phase 4 Levomilnacipran;Duloxetine;Placebos
6 Safety and Efficacy of Oral Tranexamic Acid in Reducing Blood Loss and Transfusion in Femoral Neck, Intertrochanteric and Subtrochanteric Femur Fractures 100 FR 1 (2015-2) Terminated NCT02908516 Phase 4 Tranexamic Acid;Placebo
7 Pre-hospital Administration of Tranexamic Acid for Adults With Moderate and Severe Traumatic Brain Injury: a Randomized, Double-blinded, Placebo-controlled Trial Unknown status NCT02645552 Phase 3 Tranexamic Acid
8 Role of Tranexamic Acid for Reducing Blood Loss in Patients Undergoing Major Gastro-intestinal Surgery Unknown status NCT01655641 Phase 2, Phase 3 Tranexamic acid
9 Blood Loss Reduction After Total Knee Arthroplasty. A Comparison Between Topical Tranexamic Acid and Platelet Rich Plasma: Controlled Clinical Trial Unknown status NCT02650856 Phase 3 Group 1 Tranexamic Acid
10 Open Label, Non-Randomized, Study to Evaluate the Pharmacokinetics of Tranexamic Acid in Patients Undergoing Major Liver Resection Completed NCT01651182 Phase 3 No tranexamic acid;Tranexamic Acid
11 A Large Randomised Placebo Controlled Trial Among Trauma Patients With, or at Risk of, Significant Haemorrhage, of the Effects of Antifibrinolytic Treatment on Death and Transfusion Requirement Completed NCT00375258 Phase 3 Tranexamic acid;Sodium Chloride 0.9%
12 Michigan Young Drivers Intervention Study Completed NCT00340470 Phase 3
13 Footwear Prevention Study: Investigating the Effects of Running Shoe Pronation Control on the Risk of Injury Completed NCT00832195 Phase 3
14 Enzymatically Augmented Subcutaneous Infusion (EASI) In Out-Of-Hospital Care Completed NCT00386386 Phase 3
15 A Multi-centre Randomised, Double-blinded, Placebo-controlled Trial of Pre-hospital Treatment With Tranexamic Acid for Severely Injured Patients at Risk of Acute Traumatic Coagulopathy. Recruiting NCT02187120 Phase 3 Tranexamic Acid;Placebo
16 Evaluation of the Safety and Efficacy of the Second Dose of Tranexamic Acid Administration of Trauma Patients: A Randomized, Double-blind Controlled Clinical Trial Recruiting NCT03846973 Phase 3 Tranexamic Acid
17 The Effect of Tranexamic Acid in Ruptured Abdominal Aortic Aneurysms Recruiting NCT02125890 Phase 3 Tranexamic Acid
18 Tranexamic Acid for the Treatment of Gastrointestinal Haemorrhage: an International Randomised, Double Blind Placebo Controlled Trial Recruiting NCT01658124 Phase 3 Tranexamic Acid;Placebo
19 Tranexamic Acid for the Treatment of Significant Traumatic Brain Injury: an International Randomised, Double Blind Placebo Controlled Trial Active, not recruiting NCT01402882 Phase 3 Tranexamic Acid
20 Preventing Motor Vehicle Crashes Among Young Drivers: Evaluation of the AAA Checkpoints Program Completed NCT00920049 Phase 1, Phase 2
21 Fibrinogen Concentrate vs Cryoprecipitate in Traumatic Haemorrhage: A Pilot Randomised Controlled Trial Completed NCT02745041 Phase 2 Fibrinogen Concentrate
22 Phase II Clinical Studies on Anti-addictive Therapeutic Effects of Mirtazapine in Human Subjects Addicted to Cocaine. Completed NCT01949571 Phase 2 Mirtazapine (REMERON, Schering-Plough-Organon)
23 Study of Visual Recovery After Erythropoietin (EPO) Injection, in Patients With Traumatic Optic Neuropathy (TON) Completed NCT01783847 Phase 1, Phase 2 Recombinant human erythropoietin (EPO);Methyl prednisolone
24 Fibrinogen Concentrate vs Cryoprecipitate in Traumatic Haemorrhage in Children: A Pilot Randomised Controlled Trial Recruiting NCT03508141 Phase 2 Fibrinogen Concentrate;Cryoprecipitate
25 Randomized Phase II Study of First-Line FOLFOX Plus Panitumumab Versus 5FU Plus Panitumumab in RAS And BRAF Wild-Type Metastatic Colorectal Cancer Elderly Patients Active, not recruiting NCT02904031 Phase 2 5-fluorouracil;oxaliplatin;l-leucovorin;panitumumab
26 Hypothermia and Circulatory Arrest During Surgery on the Ascending Aorta: A Comparison Between Two Cooling Methods Unknown status NCT01306734
27 Preventable Paediatric Trauma - Retrospective Analysis Unknown status NCT01825343
28 Randomized Controlled Trial Evaluating the Effectiveness of Interactive Video Interventions to Reduce Teen Pregnancy and Teen Automobile Injuries Unknown status NCT02049710
29 Ultrasound Assessment of Gastric Content and Gastric Volume Before Crash Induction for Appendectomy Unknown status NCT02983175
30 Identifying the Relative Change in Ventilation With Changes in Infant Sleeping Position Unknown status NCT00382876
31 The CIHR Team in Driving in Older Persons (Candrive II) Research Program Unknown status NCT01237626
32 Comparison of Vitamin B12 Supplementation and SSRI to SSRI Monotherapy in Treating Depression With Low Normal B12: A Randomized Open Label trialComparison of Vitamin B12 Supplementation to SSRI Versus SSRI Antidepressant Treatment Alone Unknown status NCT00939718
33 Audit of the Response Time of the Anaesthetic and Surgical Techniques for Crash Caesarean Section Completed NCT02314078
34 A Prospective, Multicenter, Randomized, Controlled, Parallel-group, Open Label Trial Evaluating Benefits of Nasal High Flow Therapy (HFT) in Preoxygenation Before Tracheal Intubation in Acute Hypoxemic Respiratory Failure Completed NCT01747109
35 A Prospective , Multicenter , Randomized, Controlled, Parallel-group , Open-label Trial Evaluating Benefits of High Flow Nasal Cannula (HFNC) Oxygen for Preoxygenation During Intubation in Non Severely Hypoxemic Patients Completed NCT02700321
36 PREOPTI-POOP: Preoxygenation Optimisation in Obese Patients: High-flow Nasal Cannula Oxygen Versus Non-invasive Ventilation : A Single-centre Randomized Controlled Study. " Completed NCT03106441
37 Improving Motorcycle Taxi Driver Visibility in Tanzania—A Cluster Randomized Controlled Trial Completed NCT01733537
38 Concussion in Motor Vehicle Accidents: The Concussion Identification Index Completed NCT02858544
39 Effects of Experience on the Driving Performance of Novice Teen Drivers Completed NCT00340561
40 Influence of Alcohol and Peer Passengers on Risky Driving Behavior in Young Adults Completed NCT01595659
41 Randomized Control Trial of an Intervention to Increase Perceived Safety Benefit of Booster Seats Among Parents of Children 4 to 8 Years Old in Canada. Completed NCT03573830
42 The Effect of Red Blood Cells Transfusion in Trauma Patients: A Risk Stratified Analysis Completed NCT01746953
43 Pharmacokinetics of Rocuronium (1 mg/kg) for Deep Block : a Prospective Observational Study Completed NCT03545308 Rocuronium
44 The Influence of Bupivacaine Temperature on Supraclavicular Plexus Block Characteristics Completed NCT03265886 Warm bupivacaine at (37°c);Bupivacaine at operating room temperature (23°c)
45 Promoting Teen Health: A Web-based Intervention to Prevent Risky Driving Completed NCT02319317
46 Multi-tasking to Hyper-tasking: Investigating the Impact of Next Generation 911 Completed NCT02961621
47 Teenage Passenger Influences on the Simulated Driving Performance of Teenage Drivers Completed NCT00716378
48 Efficacy of "5-hour Energy"®, "5-Hour Energy Decaf"®, and Caffeine for Perceived Energy and Wakefulness Completed NCT01755299
49 Persistent Pain and Associated Functional Decline Among Elderly Experiencing Motor Vehicle Collision Completed NCT02054962
50 An Evaluation of a Web-based Intervention Program for Parents and Teens to Promote Safe Driving Completed NCT01498575

Search 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 29
2 Spastic Paraplegia 1 29 L1CAM
3 X-Linked Hydrocephalus Syndrome 29 L1CAM

Anatomical Context for Masa Syndrome

MalaCards organs/tissues related to Masa Syndrome:

40
Brain, Testes, Heart, Liver, Spinal Cord, Thyroid, Prostate

Publications for Masa Syndrome

Articles related to Masa Syndrome:

(show top 50) (show all 110)
# Title Authors PMID Year
1
Clinical aspects of the MASA syndrome in a large family, including expressing females. 61 24 56 6
8062435 1994
2
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. 54 61 56 6
7562969 1995
3
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. 54 61 56 6
7920660 1994
4
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 61 56 6
7920659 1994
5
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. 61 56 6
1870106 1991
6
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. 61 24 56
8556302 1995
7
MASA syndrome: new clinical features and linkage analysis using DNA probes. 61 24 56
2277384 1990
8
Linkage studies of X-linked recessive spastic paraplegia using DNA probes. 56 6
3460961 1986
9
The MASA syndrome: a new heritable mental retardation syndrome. 61 24 56
4855169 1974
10
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. 54 61 56
7645588 1995
11
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. 54 61 6
7881431 1994
12
L1 Syndrome 61 6
20301657 2004
13
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. 54 61 24
11772994 2002
14
Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28. 61 56
8062432 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. 61 56
8031529 1994
16
MASA syndrome: delineation of the clinical spectrum at prepubertal age. 61 56
1605218 1992
17
Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28. 61 56
1605219 1992
18
MASA syndrome: clinical variability and linkage analysis. 61 56
1951449 1991
19
MASA syndrome: further clinical delineation and chromosomal localisation. 61 56
2737668 1989
20
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases. 61 24
23820807 2013
21
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. 61 24
19846429 2010
22
An updated and upgraded L1CAM mutation database. 61 24
19953645 2010
23
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. 61 24
11438988 2001
24
Hereditary Spastic Paraplegia Overview 6
20301682 2000
25
Disruption of the mouse L1 gene leads to malformations of the nervous system. 56
9354804 1997
26
Advances in hereditary spastic paraplegia. 56
9266155 1997
27
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. 56
8649538 1996
28
Agenesis of the corpus callosum associated with MASA syndrome. 61 24
8305964 1993
29
Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. 56
1303258 1992
30
X-linked mental retardation with bilateral clasped thumbs: report of another affected family. 56
1756607 1991
31
X-linked mental retardation associated with bilateral clasp thumb anomaly. 56
6538753 1984
32
Mental retardation-clasped thumb syndrome. 56
6538754 1984
33
The syndrome of sex-linked hydrocephalus. 56
13889295 1961
34
Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. 24
22344793 2012
35
Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum. 24
22354677 2012
36
L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease. 24
19641926 2009
37
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11). 24
19300444 2009
38
Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review. 24
18485929 2008
39
L1CAM mutation in a boy with hydrocephalus and duplex kidneys. 54 61
17294222 2007
40
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. 24
17318848 2007
41
Expanding the phenotypic spectrum of L1CAM-associated disease. 24
16650080 2006
42
First case of L1CAM gene mutation identified in MASA syndrome in Asia. 54 61
15904436 2005
43
Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius. 24
15368500 2004
44
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. 24
15148591 2004
45
The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo. 24
12514225 2003
46
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 24
11857550 2002
47
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. 24
10797421 2000
48
Neural cell recognition molecule L1: relating biological complexity to human disease mutations. 24
10767310 2000
49
What's in a name? 24
9788567 1998
50
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 54 61
9643285 1998

Variations for Masa Syndrome

ClinVar genetic disease variations for Masa Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 L1CAM NM_001278116.2(L1CAM):c.630C>A (p.His210Gln)SNV Pathogenic 9988 rs28933683 X:153136309-153136309 X:153870854-153870854
2 L1CAM NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn)SNV Pathogenic 9989 rs137852519 X:153133489-153133489 X:153868034-153868034
3 L1CAM NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs)deletion Pathogenic 9992 rs879253714 X:153128972-153128973 X:153863517-153863518
4 L1CAM NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)SNV Pathogenic 9993 rs137852522 X:153128311-153128311 X:153862856-153862856
5 L1CAM NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser)SNV Pathogenic 9994 rs137852523 X:153136403-153136403 X:153870948-153870948
6 L1CAM NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)SNV Pathogenic 9995 rs137852524 X:153135273-153135273 X:153869818-153869818
7 L1CAM NM_001278116.2(L1CAM):c.749del (p.Ser250fs)deletion Pathogenic 635332 X:153135900-153135900 X:153870445-153870445
8 L1CAM NM_001278116.2(L1CAM):c.3166+1G>ASNV Pathogenic 635331 X:153130039-153130039 X:153864584-153864584
9 L1CAM NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)SNV Likely pathogenic 689728 X:153136335-153136335 X:153870880-153870880
10 L1CAM NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His)SNV Uncertain significance 548001 rs1369743518 X:153128238-153128238 X:153862783-153862783

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

73 (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 rs106479424

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

Pathways related to Masa Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.6 NRCAM NFASC L1CAM
2
Show member pathways
11.43 NRCAM NFASC L1CAM
3 11.42 ZFYVE27 WASHC5 SPG21 SPART KIF5A
4 10.61 NRCAM NFASC L1CAM

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 GO:0005783 9.87 ZFYVE27 WASHC5 SPAST RTN2 REEP1 BSCL2
2 endoplasmic reticulum membrane GO:0005789 9.73 ZFYVE27 SPAST RTN2 REEP1 BSCL2 ATL1
3 integral component of endoplasmic reticulum membrane GO:0030176 9.54 ZFYVE27 RTN2 BSCL2
4 axon GO:0030424 9.43 ZFYVE27 SPG11 NRCAM NFASC L1CAM ATL1
5 axon initial segment GO:0043194 9.4 NRCAM NFASC
6 axon cytoplasm GO:1904115 9.33 SPG7 SPAST KIF5A
7 endoplasmic reticulum tubular network GO:0071782 8.8 ZFYVE27 REEP1 ATL1

Biological processes related to Masa Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 9.33 SPAST NRCAM ATL1
2 lipid droplet organization GO:0034389 9.32 SPART BSCL2
3 synaptic vesicle transport GO:0048489 9.26 SPG11 KIF5A
4 axon guidance GO:0007411 9.26 NRCAM NFASC L1CAM KIF5A
5 clustering of voltage-gated sodium channels GO:0045162 8.62 NRCAM NFASC

Molecular functions related to Masa Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
2 protein binding involved in heterotypic cell-cell adhesion GO:0086080 8.96 NRCAM NFASC

Sources for Masa Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....