MASA
MCID: MSS001
MIFTS: 55

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 57 12 75 59 74 37 55 15 40 72
L1 Syndrome 12 24 53 25 59 37 29 6
Crash Syndrome 57 12 53 25 59 13
X-Linked Hydrocephalus Syndrome 25 29 6 72
Spg1 57 12 74
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome 53 59
Adducted Thumb with Mental Retardation 57 74
Clasped Thumb and Mental Retardation 57 74
Spastic Paraplegia 1, X-Linked 57 74
Gareis-Mason Syndrome 57 12
L1cam Syndrome 53 59
Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome 25
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus 74
Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs Syndrome 74
Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome 59
Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs 57
X-Linked Complicated Hereditary Spastic Paraplegia Type 1 12
Thumb, Congenital Clasped, with Mental Retardation 57
Adducted Thumbs-Mental Retardation Syndrome 25
Mental Retardation-Clasped Thumb Syndrome 25
Spastic Paraplegia 1, X-Linked; Spg1 57
Spastic Paraplegia Type 1, X-Linked 75
X-Linked Corpus Callosum Agenesis 12
Hereditary Spastic Paraplegia 1 12
X-Linked Spastic Paraplegia 1 12
Spastic Paraplegia 1 74
Masa Syndrome 44
L1 Spectrum 24
L1 Disease 24
Crash 74
Masa 74

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
masa syndrome:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060246
NCIt 50 C129930
MESH via Orphanet 45 C536029
ICD10 via Orphanet 34 G11.4 Q04.8
UMLS via Orphanet 73 C0795953
MedGen 42 C0795953
UMLS 72 C0265216 C0795953

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 spastic paraparesis, 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 liver, and related phenotypes are hydrocephalus and depressivity

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 : 53 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 : 57 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 : 37
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 : 74 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 : 75 MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder... 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 267)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 31.3 SPG11 SPAST REEP1 ATL1
2 spastic paraparesis 29.5 SPG11 SPAST
3 paraplegia 27.9 SPG11 SPAST SPART REEP1 L1CAM ATL1
4 hereditary spastic paraplegia 27.4 SPG11 SPAST SPART REEP1 L1CAM ATL1
5 spastic paraplegia 1 11.8
6 sleep apnea 11.6
7 x-linked complicated spastic paraplegia type 1 11.6
8 chronic fatigue syndrome 11.6
9 head injury 10.9
10 hydrocephalus 10.6
11 congenital hydrocephalus 10.6
12 traumatic brain injury 10.6
13 ocular motor apraxia 10.6
14 whiplash 10.6
15 aphasia 10.5
16 brain injury 10.5
17 spinal cord injury 10.5
18 alcohol use disorder 10.4
19 acute stress disorder 10.4
20 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
21 post-traumatic stress disorder 10.4
22 sleep disorder 10.4
23 alcohol dependence 10.3
24 cataract 10.3
25 spastic paraplegia 32, autosomal recessive 10.3 SPG11 ATL1
26 placental abruption 10.3
27 x-linked complex spastic paraplegia 10.2
28 substance abuse 10.2
29 47,xyy 10.2
30 depression 10.2
31 syncope 10.2
32 alzheimer disease 10.2
33 body mass index quantitative trait locus 1 10.2
34 dementia 10.2
35 pneumothorax 10.2
36 cardiac arrest 10.2
37 mental depression 10.2
38 anencephaly 10.2
39 iron metabolism disease 10.2
40 adenocarcinoma 10.2
41 adducted thumbs syndrome 10.1
42 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
43 thumbs, congenital clasped 10.1
44 hydrocephalus with stenosis of the aqueduct of sylvius 10.1
45 attention deficit-hyperactivity disorder 10.1
46 epilepsy 10.1
47 spastic paraplegia 18, autosomal recessive 10.1 REEP1 AP5Z1
48 spastic paraplegia 48, autosomal recessive 10.1 SPG11 AP5Z1
49 amyotrophic lateral sclerosis 1 10.1
50 alacrima, achalasia, and mental retardation syndrome 10.1

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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001249
4 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
5 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001288
6 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001347
7 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
8 aqueductal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002410
9 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
11 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
12 hemiplegia/hemiparesis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004374
13 aphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002381
14 headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002315
15 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
16 hand clenching 59 32 hallmark (90%) Very frequent (99-80%) HP:0001188
17 language impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002463
18 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
19 adducted thumb 59 32 frequent (33%) Frequent (79-30%) HP:0001181
20 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
21 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
22 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
23 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
24 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
25 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
26 macrocephaly 32 HP:0000256
27 kyphosis 32 HP:0002808
28 hyperlordosis 32 HP:0003307
29 microcephaly 32 HP:0000252
30 strabismus 32 HP:0000486
31 pes cavus 32 HP:0001761
32 talipes equinovarus 32 HP:0001762
33 shuffling gait 32 HP:0002362

Symptoms via clinical synopsis from OMIM:

57
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

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 140)
# 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
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
5
Norepinephrine Approved Phase 4 51-41-2 439260
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 Cytochrome P-450 Enzyme Inducers Phase 4
13 Diuretics, Potassium Sparing Phase 4
14 Anticonvulsants Phase 4
15 Neurotransmitter Agents Phase 4
16 Dopamine Agents Phase 4
17 Peripheral Nervous System Agents Phase 4
18 Serotonin Agents Phase 4
19 Neurotransmitter Uptake Inhibitors Phase 4
20 Adrenergic Agents Phase 4
21 Psychotropic Drugs Phase 4
22 Vasoconstrictor Agents Phase 4
23 Antidepressive Agents Phase 4
24 Autonomic Agents Phase 4
25 Analgesics Phase 4
26 Serotonin Uptake Inhibitors Phase 4
27 Adrenergic Agonists Phase 4
28 Serotonin Receptor Agonists Phase 4
29 Sympathomimetics Phase 4
30 Analgesics, Non-Narcotic Phase 4
31 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
32 Adrenergic alpha-Agonists Phase 4
33 Duloxetine Hydrochloride Phase 4
34 Hemostatics Phase 4
35 Coagulants Phase 4
36 Antifibrinolytic Agents Phase 4
37
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
38
Tyramine Investigational, Nutraceutical Phase 4 51-67-2 5610
39
Fibrinolysin Investigational Phase 3 9004-09-5
40 Liver Extracts Phase 3
41 lysine Phase 3
42 Plasminogen Phase 3
43
Mirtazapine Approved Phase 2 61337-67-5, 85650-52-8 4205
44
Histamine Approved, Investigational Phase 2 51-45-6 774
45
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
46
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
47
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
48
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
49
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
50
Levoleucovorin Approved, Investigational Phase 2 68538-85-2

Interventional clinical trials:

(show top 50) (show all 81)
# 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 Teenage Passenger Influences on the Simulated Driving Performance of Teenage Drivers Completed NCT00716378
45 Multi-tasking to Hyper-tasking: Investigating the Impact of Next Generation 911 Completed NCT02961621
46 Efficacy of "5-hour Energy"®, "5-Hour Energy Decaf"®, and Caffeine for Perceived Energy and Wakefulness Completed NCT01755299
47 Promoting Teen Health: A Web-based Intervention to Prevent Risky Driving Completed NCT02319317
48 Persistent Pain and Associated Functional Decline Among Elderly Experiencing Motor Vehicle Collision Completed NCT02054962
49 An Evaluation of a Web-based Intervention Program for Parents and Teens to Promote Safe Driving Completed NCT01498575
50 Shared Decision Making for Prostate Cancer Screening: a Practice-Based Randomized Controlled Trial Completed NCT00630188

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 X-Linked Hydrocephalus Syndrome 29 L1CAM

Anatomical Context for Masa Syndrome

MalaCards organs/tissues related to Masa Syndrome:

41
Brain, Testes, Liver, Prostate, Skeletal Muscle, Kidney

Publications for Masa Syndrome

Articles related to Masa Syndrome:

(show top 50) (show all 108)
# Title Authors PMID Year
1
Clinical aspects of the MASA syndrome in a large family, including expressing females. 38 4 8 71
8062435 1994
2
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. 9 38 8 71
7562969 1995
3
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. 9 38 8 71
7920660 1994
4
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 38 8 71
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. 38 8 71
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. 38 4 8
8556302 1995
7
MASA syndrome: new clinical features and linkage analysis using DNA probes. 38 4 8
2277384 1990
8
Linkage studies of X-linked recessive spastic paraplegia using DNA probes. 8 71
3460961 1986
9
The MASA syndrome: a new heritable mental retardation syndrome. 38 4 8
4855169 1974
10
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. 9 38 8
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. 9 38 71
7881431 1994
12
L1 Syndrome 38 71
20301657 2004
13
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. 9 38 4
11772994 2002
14
Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28. 38 8
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. 38 8
8031529 1994
16
MASA syndrome: delineation of the clinical spectrum at prepubertal age. 38 8
1605218 1992
17
Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28. 38 8
1605219 1992
18
MASA syndrome: clinical variability and linkage analysis. 38 8
1951449 1991
19
MASA syndrome: further clinical delineation and chromosomal localisation. 38 8
2737668 1989
20
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases. 38 4
23820807 2013
21
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. 38 4
19846429 2010
22
An updated and upgraded L1CAM mutation database. 38 4
19953645 2010
23
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. 38 4
11438988 2001
24
Hereditary Spastic Paraplegia Overview 71
20301682 2000
25
Disruption of the mouse L1 gene leads to malformations of the nervous system. 8
9354804 1997
26
Advances in hereditary spastic paraplegia. 8
9266155 1997
27
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. 8
8649538 1996
28
Agenesis of the corpus callosum associated with MASA syndrome. 38 4
8305964 1993
29
Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. 8
1303258 1992
30
X-linked mental retardation with bilateral clasped thumbs: report of another affected family. 8
1756607 1991
31
X-linked mental retardation associated with bilateral clasp thumb anomaly. 8
6538753 1984
32
Mental retardation-clasped thumb syndrome. 8
6538754 1984
33
The syndrome of sex-linked hydrocephalus. 8
13889295 1961
34
Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum. 4
22354677 2012
35
Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. 4
22344793 2012
36
L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease. 4
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). 4
19300444 2009
38
Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review. 4
18485929 2008
39
L1CAM mutation in a boy with hydrocephalus and duplex kidneys. 9 38
17294222 2007
40
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. 4
17318848 2007
41
Expanding the phenotypic spectrum of L1CAM-associated disease. 4
16650080 2006
42
First case of L1CAM gene mutation identified in MASA syndrome in Asia. 9 38
15904436 2005
43
Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius. 4
15368500 2004
44
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. 4
15148591 2004
45
The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo. 4
12514225 2003
46
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 4
11857550 2002
47
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. 4
10797421 2000
48
Neural cell recognition molecule L1: relating biological complexity to human disease mutations. 4
10767310 2000
49
What's in a name? 4
9788567 1998
50
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 9 38
9643285 1998

Variations for Masa Syndrome

ClinVar genetic disease variations for Masa Syndrome:

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.749del (p.Ser250fs) deletion Pathogenic X:153135900-153135900 X:153870445-153870445
8 L1CAM NM_000425.5(L1CAM): c.3166+1G> A single nucleotide variant Pathogenic X:153130039-153130039 X:153864584-153864584
9 L1CAM NM_000425.5(L1CAM): c.3654G> C (p.Gln1218His) single nucleotide variant Uncertain significance rs1369743518 X:153128238-153128238 X:153862783-153862783

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

74 (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:

37
# 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 lipid droplet GO:0005811 9.16 SPAST SPART
2 axon GO:0030424 9.13 SPG11 L1CAM ATL1
3 endoplasmic reticulum tubular network GO:0071782 8.62 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 8.62 SPAST ATL1

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 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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