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 29 54 6 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
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
Spastic Paraplegia 1 52 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 liver, and related phenotypes are intellectual disability and global developmental delay

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:

(showing 318, show less)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 31.5 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 29.3 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP1
5 paraplegia 27.5 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
6 hereditary spastic paraplegia 27.1 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
7 x-linked complicated spastic paraplegia type 1 11.6
8 traumatic brain injury 11.6
9 sleep apnea 11.6
10 alcohol use disorder 11.6
11 chronic fatigue syndrome 11.5
12 head injury 10.9
13 hydrocephalus 10.6
14 whiplash 10.6
15 ocular motor apraxia 10.6
16 brain injury 10.5
17 aphasia 10.5
18 spinal cord injury 10.5
19 acute stress disorder 10.4
20 post-traumatic stress disorder 10.4
21 spastic paraplegia 41, autosomal dominant 10.4 SPG21 SPAST
22 spastic paraplegia 64, autosomal recessive 10.4 SPG21 SPG11
23 sleep disorder 10.4
24 spastic paraplegia 27, autosomal recessive 10.4 SPG21 REEP1
25 neuropathy, hereditary sensory, type id 10.4 KIF5A ATL1
26 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
27 spinal cord neuroblastoma 10.4 ZFYVE27 REEP1
28 alcohol dependence 10.4
29 spinal cord primitive neuroectodermal neoplasm 10.3 ZFYVE27 REEP1
30 charcot-marie-tooth disease, axonal, type 2r 10.3 ZFYVE26 SPG21
31 cataract 10.3
32 spastic paraplegia 73, autosomal dominant 10.3 SPG21 REEP1 ATL1
33 spastic paraplegia 49, autosomal recessive 10.3 ZFYVE26 SPG21 SPG11
34 spastic paraplegia 45, autosomal recessive 10.3 SPG21 SPG11
35 primary lateral sclerosis, adult, 1 10.3 SPG7 SPAST
36 spastic paraplegia 55, autosomal recessive 10.3 ZFYVE26 SPG21 SPG11
37 placental abruption 10.3
38 spastic paraplegia 29, autosomal dominant 10.3 ZFYVE26 WASHC5 SPG21
39 spastic paraplegia 25, autosomal recessive 10.3 ZFYVE26 WASHC5 SPG21
40 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.3 RTN2 AP5Z1
41 spastic paraplegia 34, x-linked 10.3 ZFYVE26 WASHC5 SPG21
42 amyotrophic lateral sclerosis type 5 10.3 ZFYVE26 SPG11 AP5Z1
43 spastic paraplegia 14, autosomal recessive 10.3 SPG21 SPG11 SPAST ATL1
44 syncope 10.3
45 x-linked complex spastic paraplegia 10.2
46 substance abuse 10.2
47 47,xyy 10.2
48 depression 10.2
49 spastic paraplegia 63, autosomal recessive 10.2 SPG7 SPG21 SPG11
50 complex hereditary spastic paraplegia 10.2 SPG7 SPG11 NIPA1
51 spastic paraplegia, optic atrophy, and neuropathy 10.2 WASHC5 AP5Z1
52 alzheimer disease 10.2
53 attention deficit-hyperactivity disorder 10.2
54 body mass index quantitative trait locus 1 10.2
55 cardiac arrest 10.2
56 pneumothorax 10.2
57 autosomal dominant distal hereditary motor neuronopathy 10.2 REEP1 BSCL2 ATL1
58 charcot-marie-tooth disease, axonal, type 2t 10.2 ZFYVE26 SPG21
59 mental depression 10.2
60 anencephaly 10.2
61 iron metabolism disease 10.2
62 adenocarcinoma 10.2
63 spastic paraplegia 53, autosomal recessive 10.2 WASHC5 RTN2 ATL1 AP5Z1
64 axonal neuropathy 10.2 ZFYVE26 SPG11 KIF5A
65 adducted thumbs syndrome 10.2
66 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.2
67 thumbs, congenital clasped 10.2
68 hydrocephalus with stenosis of the aqueduct of sylvius 10.2
69 covid-19 10.1
70 dementia 10.1
71 spinal muscular atrophy, distal, autosomal recessive, 2 10.1 REEP1 BSCL2
72 neurodegeneration with brain iron accumulation 5 10.1 ZFYVE26 SPG11
73 spastic paraplegia 32, autosomal recessive 10.1 WASHC5 SPG7 SPG21 SPG11
74 mast syndrome 10.1 ZFYVE27 SPG21 SPG11 SPART
75 amyotrophic lateral sclerosis 1 10.1
76 alacrima, achalasia, and mental retardation syndrome 10.1
77 spastic paraplegia 72, autosomal recessive 10.1
78 lateral sclerosis 10.1
79 spastic paraplegia 16, x-linked 10.1 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
80 major depressive disorder 10.1
81 pulmonary edema 10.1
82 epilepsy 10.1
83 hypoglycemia 10.1
84 back pain 10.1
85 hereditary spastic paraplegia 51 10.1 ZFYVE26 SPG21 SPG11 RTN2 AP5Z1
86 spastic paraplegia 52, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11 RTN2 AP5Z1
87 spastic paraplegia 19, autosomal dominant 10.1 ZFYVE26 WASHC5 SPG21 BSCL2
88 spastic paraplegia 50, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11 RTN2 AP5Z1
89 spastic paraplegia 28, autosomal recessive 10.0 SPG11 REEP1 ERLIN2 AP5Z1
90 hereditary spastic paraplegia 23 10.0 ZFYVE26 WASHC5 SPG21 SPG11 SPART
91 yemenite deaf-blind hypopigmentation syndrome 10.0
92 anxiety 10.0
93 generalized anxiety disorder 10.0
94 normal pressure hydrocephalus 10.0
95 severe combined immunodeficiency 10.0
96 cerebrovascular disease 10.0
97 benign idiopathic neonatal seizures 10.0
98 cardiogenic shock 10.0
99 thyroid cancer, nonmedullary, 1 10.0
100 small cell carcinoma 10.0
101 cholelithiasis 10.0
102 hemiplegia 10.0
103 lipid metabolism disorder 10.0
104 pancreatic adenocarcinoma 10.0
105 follicular adenoma 10.0
106 adenoma 10.0
107 thyroid carcinoma 10.0
108 spastic paraplegia 11, autosomal recessive 10.0 SPG7 SPG21 SPG11 SPAST AP5Z1
109 spastic diplegia 10.0 SPAST L1CAM
110 autosomal dominant non-syndromic intellectual disability 9 10.0 ZFYVE26 RTN2 REEP1 KIF5A AP5Z1
111 spastic paraplegia 57, autosomal recessive 10.0 SPG11 REEP1 KIF5A ERLIN2
112 corpus callosum, agenesis of 10.0
113 opitz-kaveggia syndrome 10.0
114 scoliosis 10.0
115 congenital hydrocephalus 10.0
116 spastic paraplegia 54, autosomal recessive 10.0 SPG7 SPG21 SPG11 REEP1 AP5Z1
117 spastic paraplegia 56, autosomal recessive 10.0 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
118 spastic paraplegia 5a, autosomal recessive 10.0 ZFYVE26 SPG7 SPG11 SPAST KIF5A
119 spastic paraplegia 26, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11 SPAST SPART REEP1
120 neuropathy, hereditary sensory, type iic 9.9 SPG21 SPG11 RTN2 REEP1 ERLIN2
121 spastic paraplegia 43, autosomal recessive 9.9 WASHC5 SPG11 SPAST ERLIN2 ATL1
122 hand skill, relative 9.9
123 parkinson disease, late-onset 9.9
124 body mass index quantitative trait locus 11 9.9
125 mental retardation with optic atrophy, deafness, and seizures 9.9
126 autoimmune lymphoproliferative syndrome 9.9
127 body mass index quantitative trait locus 9 9.9
128 body mass index quantitative trait locus 8 9.9
129 late-onset retinal degeneration 9.9
130 body mass index quantitative trait locus 4 9.9
131 body mass index quantitative trait locus 10 9.9
132 autoimmune disease 1 9.9
133 body mass index quantitative trait locus 7 9.9
134 body mass index quantitative trait locus 12 9.9
135 body mass index quantitative trait locus 14 9.9
136 body mass index quantitative trait locus 18 9.9
137 seizures, scoliosis, and macrocephaly/microcephaly syndrome 9.9
138 heart and brain malformation syndrome 9.9
139 body mass index quantitative trait locus 19 9.9
140 body mass index quantitative trait locus 20 9.9
141 pulmonary hypertension 9.9
142 withdrawal disorder 9.9
143 amnestic disorder 9.9
144 cardiac tamponade 9.9
145 hepatic coma 9.9
146 quadriplegia 9.9
147 hepatic encephalopathy 9.9
148 personality disorder 9.9
149 vascular disease 9.9
150 telogen effluvium 9.9
151 focal epilepsy 9.9
152 mood disorder 9.9
153 plague 9.9
154 liver cirrhosis 9.9
155 eye disease 9.9
156 fibromyalgia 9.9
157 intestinal obstruction 9.9
158 carotid artery dissection 9.9
159 drug dependence 9.9
160 cardiac rupture 9.9
161 moderate and severe traumatic brain injury 9.9
162 spastic paraplegia 47, autosomal recessive 9.9 ZFYVE26 WASHC5 SPG21 SPG11 REEP1 AP5Z1
163 neuronopathy, distal hereditary motor, type va 9.9 SPART RTN2 REEP1 BSCL2 ATL1
164 motor peripheral neuropathy 9.9 ZFYVE26 SPG11 REEP1 KIF5A BSCL2
165 spastic paraplegia 37, autosomal dominant 9.9 ZFYVE26 WASHC5 SPG21 REEP1 ERLIN2
166 spastic paraplegia 46, autosomal recessive 9.9 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
167 diabetes insipidus, nephrogenic, autosomal 9.9
168 corpus callosum, partial agenesis of, x-linked 9.9
169 diabetes insipidus 9.9
170 hydrocephalus, congenital, 1 9.8
171 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.8
172 anisocoria 9.8
173 apnea, obstructive sleep 9.8
174 blood group--newfoundland 9.8
175 breast cancer 9.8
176 cardiac conduction defect 9.8
177 carpal tunnel syndrome 9.8
178 multiple sclerosis 9.8
179 migraine with or without aura 1 9.8
180 osteoporosis 9.8
181 nephrolithiasis, calcium oxalate 9.8
182 familial adenomatous polyposis 1 9.8
183 pulmonary hypertension, primary, 1 9.8
184 neural tube defects 9.8
185 multiple acyl-coa dehydrogenase deficiency 9.8
186 hydrops fetalis, nonimmune 9.8
187 pancreatic cancer 9.8
188 arts syndrome 9.8
189 aging 9.8
190 gallbladder disease 1 9.8
191 asthma 9.8
192 patent ductus venosus 9.8
193 branchiootic syndrome 1 9.8
194 aortic aneurysm, familial thoracic 1 9.8
195 coronary heart disease 1 9.8
196 myocardial infarction 9.8
197 human immunodeficiency virus type 1 9.8
198 intraocular pressure quantitative trait locus 9.8
199 bone mineral density quantitative trait locus 8 9.8
200 major affective disorder 8 9.8
201 major affective disorder 9 9.8
202 microvascular complications of diabetes 3 9.8
203 microvascular complications of diabetes 4 9.8
204 microvascular complications of diabetes 6 9.8
205 microvascular complications of diabetes 7 9.8
206 bone mineral density quantitative trait locus 15 9.8
207 chromosome 3pter-p25 deletion syndrome 9.8
208 hemorrhage, intracerebral 9.8
209 leptin deficiency or dysfunction 9.8
210 lung disease, immunodeficiency, and chromosome breakage syndrome 9.8
211 joint laxity, short stature, and myopia 9.8
212 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.8
213 peripheral vascular disease 9.8
214 restless legs syndrome 9.8
215 metabolic acidosis 9.8
216 oppositional defiant disorder 9.8
217 pain agnosia 9.8
218 thrombosis 9.8
219 aortic dissection 9.8
220 suppression amblyopia 9.8
221 amblyopia 9.8
222 antisocial personality disorder 9.8
223 opioid abuse 9.8
224 disseminated intravascular coagulation 9.8
225 adult respiratory distress syndrome 9.8
226 heart disease 9.8
227 hemopericardium 9.8
228 protein-energy malnutrition 9.8
229 myopia 9.8
230 nephrotic syndrome 9.8
231 cryptococcosis 9.8
232 conduct disorder 9.8
233 eclampsia 9.8
234 disease of mental health 9.8
235 avoidant personality disorder 9.8
236 heart septal defect 9.8
237 atrial heart septal defect 9.8
238 cerebral palsy 9.8
239 transient cerebral ischemia 9.8
240 kernicterus 9.8
241 neonatal jaundice 9.8
242 psychotic disorder 9.8
243 dermatitis 9.8
244 melancholia 9.8
245 severe acute respiratory syndrome 9.8
246 acute kidney failure 9.8
247 bipolar disorder 9.8
248 skin carcinoma 9.8
249 aortic aneurysm 9.8
250 lactic acidosis 9.8
251 plexopathy 9.8
252 heart valve disease 9.8
253 liver disease 9.8
254 poliomyelitis 9.8
255 intestinal disease 9.8
256 kidney disease 9.8
257 aortic valve insufficiency 9.8
258 nephrolithiasis 9.8
259 agoraphobia 9.8
260 congestive heart failure 9.8
261 acquired immunodeficiency syndrome 9.8
262 placenta disease 9.8
263 end stage renal disease 9.8
264 cocaine abuse 9.8
265 influenza 9.8
266 mucormycosis 9.8
267 measles 9.8
268 decubitus ulcer 9.8
269 vascular dementia 9.8
270 narcolepsy 9.8
271 scotoma 9.8
272 fatty liver disease 9.8
273 meningitis 9.8
274 pulmonary embolism 9.8
275 encephalitis 9.8
276 alopecia 9.8
277 toxoplasmosis 9.8
278 48,xyyy 9.8
279 idiopathic hypersomnia 9.8
280 pediatric acute-onset neuropsychiatric syndrome 9.8
281 postorgasmic illness syndrome 9.8
282 chronic pain 9.8
283 dysphagia 9.8
284 encephalopathy 9.8
285 headache 9.8
286 hypersomnia 9.8
287 hypoxia 9.8
288 paresthesia 9.8
289 virus-associated trichodysplasia spinulosa 9.8
290 amelia 9.8
291 pik3ca-related overgrowth syndrome 9.8
292 charcot-marie-tooth disease, axonal, type 2e 9.8 ZFYVE26 SPG21 SPG11 SPAST KIF5A BSCL2
293 pure hereditary spastic paraplegia 9.7 SPAST RTN2 NIPA1 KIF5A ERLIN2 ATL1
294 microcephaly 9.7
295 spastic paraplegia 44, autosomal recessive 9.7 ZFYVE27 ZFYVE26 SPG21 SPG11 ERLIN2 AP5Z1
296 spastic paraplegia 61, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP1
297 acid-labile subunit deficiency 9.7
298 hypothyroidism 9.7
299 learning disability 9.7
300 spastic paraplegia 35, autosomal recessive 9.7 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 REEP1
301 spastic paraplegia 39, autosomal recessive 9.7 ZFYVE26 WASHC5 SPG21 SPG11 SPAST SPART
302 hereditary spastic paraplegia 30 9.3 WASHC5 SPG21 SPG11 SPAST REEP1 KIF5A
303 spastic paraplegia 20, autosomal recessive 9.3 ZFYVE26 SPG7 SPG21 SPG11 SPAST SPART
304 spastic paraplegia 13, autosomal dominant 9.3 SPG7 SPG21 SPG11 SPAST RTN2 REEP1
305 spastic paraplegia 48, autosomal recessive 9.2 ZFYVE26 WASHC5 SPG21 SPG11 SPAST RTN2
306 charcot-marie-tooth disease 9.2 ZFYVE27 ZFYVE26 SPG11 SPAST REEP1 NFASC
307 spastic paraplegia 18, autosomal recessive 9.0 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 REEP1
308 spastic paraplegia 33, autosomal dominant 9.0 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
309 spastic paraplegia 12, autosomal dominant 8.9 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
310 spastic paraplegia 17, autosomal dominant 8.8 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
311 spastic paraplegia 15, autosomal recessive 8.7 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
312 spastic paraplegia 2, x-linked 8.6 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
313 spastic paraplegia 42, autosomal dominant 8.5 ZFYVE26 WASHC5 SPG11 SPAST SPART RTN2
314 spastic paraplegia 8, autosomal dominant 8.4 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
315 spastic paraplegia 31, autosomal dominant 8.2 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
316 spastic paraplegia 10, autosomal dominant 8.2 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
317 spastic paraplegia 6, autosomal dominant 8.1 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
318 spastic paraplegia 4, autosomal dominant 7.9 ZFYVE27 ZFYVE26 WASHC5 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 (showing 34, show less)
# 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 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001288
7 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
8 hemiplegia/hemiparesis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004374
9 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001347
10 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
11 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
12 aqueductal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002410
13 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
14 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
15 hand clenching 58 31 hallmark (90%) Very frequent (99-80%) HP:0001188
16 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
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 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
22 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
23 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
24 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
25 seizure 31 occasional (7.5%) HP:0001250
26 kyphosis 31 HP:0002808
27 macrocephaly 31 HP:0000256
28 seizures 58 Occasional (29-5%)
29 microcephaly 31 HP:0000252
30 strabismus 31 HP:0000486
31 hyperlordosis 31 HP:0003307
32 talipes equinovarus 31 HP:0001762
33 pes cavus 31 HP:0001761
34 shuffling gait 31 HP:0002362

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
kyphosis
lordosis

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

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

Head And Neck Head:
macrocephaly
microcephaly

Head And Neck Eyes:
strabismus

Skeletal Hands:
adducted thumbs

Clinical features from OMIM:

303350

UMLS symptoms related to Masa Syndrome:


muscle spasticity

MGI Mouse Phenotypes related to Masa Syndrome:

45 (showing 2, show less)
# 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 9.36 BSCL2 KIF5A L1CAM NFASC NRCAM REEP1

Drugs & Therapeutics for Masa Syndrome

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

(showing 149, show less)
# 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
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
6
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
7
Tranexamic Acid Approved Phase 4 1197-18-8 5526
8 Excitatory Amino Acid Antagonists Phase 4
9 Antiparkinson Agents Phase 4
10 Sodium Channel Blockers Phase 4
11 Diuretics, Potassium Sparing Phase 4
12 Anticonvulsants Phase 4
13 Analgesics, Non-Narcotic Phase 4
14 Analgesics Phase 4
15 Neurotransmitter Agents Phase 4
16 Dopamine Agents Phase 4
17 Antidepressive Agents Phase 4
18 Psychotropic Drugs Phase 4
19 Serotonin Uptake Inhibitors Phase 4
20 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
21 Duloxetine Hydrochloride Phase 4
22 Hemostatics Phase 4
23 Antifibrinolytic Agents Phase 4
24 Coagulants Phase 4
25
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
26
Tyramine Investigational, Nutraceutical Phase 4 51-67-2 5610
27
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
28
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
29
Angiotensin II Approved, Investigational Phase 3 4474-91-3, 11128-99-7, 68521-88-0 172198
30
Losartan Approved Phase 3 114798-26-4 3961
31
Simvastatin Approved Phase 3 79902-63-9 54454
32
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
33
Fibrinolysin Investigational Phase 3 9004-09-5
34 Pharmaceutical Solutions Phase 3
35 Liver Extracts Phase 3
36 Epinephryl borate Phase 2, Phase 3
37 Plasminogen Phase 3
38 lysine Phase 3
39 Fibrinolytic Agents Phase 3
40 Angiotensin II Type 1 Receptor Blockers Phase 3
41 Angiotensinogen Phase 3
42 Angiotensin Receptor Antagonists Phase 3
43 Antihypertensive Agents Phase 3
44 Hypolipidemic Agents Phase 3
45 Anti-Arrhythmia Agents Phase 3
46 Giapreza Phase 3
47 Platelet Aggregation Inhibitors Phase 3
48 Antipyretics Phase 3
49 Lipid Regulating Agents Phase 3
50 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
51 Cyclooxygenase Inhibitors Phase 3
52 Anticholesteremic Agents Phase 3
53 Anti-Inflammatory Agents Phase 3
54 Antimetabolites Phase 3
55 Antirheumatic Agents Phase 3
56 Anti-Inflammatory Agents, Non-Steroidal Phase 3
57
Histamine Approved, Investigational Phase 2 51-45-6 774
58
Mirtazapine Approved Phase 2 85650-52-8, 61337-67-5 4205
59
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
60
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
61
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
62
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
63 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
64
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
65
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
66
Fluorouracil Approved Phase 2 51-21-8 3385
67
leucovorin Approved Phase 2 58-05-9 6006 143
68
Panitumumab Approved, Investigational Phase 2 339177-26-3 50070211
69
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
70
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
71 Adrenergic alpha-Antagonists Phase 2
72 Adrenergic Agents Phase 2
73 Anti-Anxiety Agents Phase 2
74 Histamine Antagonists Phase 2
75 Histamine H1 Antagonists Phase 2
76 Adrenergic Antagonists Phase 2
77
Histamine Phosphate Phase 2 51-74-1 65513
78 Serotonin 5-HT3 Receptor Antagonists Phase 2
79 Gastrointestinal Agents Phase 1, Phase 2
80 Hormones Phase 1, Phase 2
81 Methylprednisolone Acetate Phase 1, Phase 2
82 Hematinics Phase 1, Phase 2
83 Hormone Antagonists Phase 1, Phase 2
84 Antineoplastic Agents, Hormonal Phase 1, Phase 2
85 Antiemetics Phase 1, Phase 2
86 Epoetin alfa Phase 1, Phase 2 113427-24-0
87 Neuroprotective Agents Phase 1, Phase 2
88 glucocorticoids Phase 1, Phase 2
89 Antineoplastic Agents, Immunological Phase 2
90 Micronutrients Phase 2
91 Trace Elements Phase 2
92 Vitamins Phase 2
93 Immunologic Factors Phase 2
94 Antidotes Phase 2
95 Vitamin B Complex Phase 2
96 Immunosuppressive Agents Phase 2
97 Nutrients Phase 2
98 Folate Phase 2
99 Protective Agents Phase 2
100 Vitamin B9 Phase 2
101
Methylcobalamin Approved, Investigational 13422-55-4
102
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
103
Ethanol Approved 64-17-5 702
104
Rocuronium Approved 119302-91-9, 143558-00-3 441290
105
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
106
Iodine Approved, Investigational 7553-56-2 807
107
Povidone Approved 9003-39-8
108
Povidone-iodine Approved 25655-41-8
109
Hydralazine Approved 86-54-4 3637
110
Nifedipine Approved 21829-25-4 4485
111
Caffeine Approved 58-08-2 2519
112
Capecitabine Approved, Investigational 154361-50-9 60953
113
Bevacizumab Approved, Investigational 216974-75-3
114
Heparin Approved, Investigational 9005-49-6 46507594 772
115
Dalteparin Approved 9005-49-6
116
Cocaine Approved, Illicit 50-36-2 446220 5760
117
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
118
Cobalamin Experimental 13408-78-1 6857388
119 Vitamin B 12
120 Vitamin B12
121 Anesthetics
122 Neuromuscular Blocking Agents
123 Anesthetics, Local
124 Hypnotics and Sedatives
125 Chelating Agents
126 Gadolinium 1,4,7,10-tetraazacyclododecane-N,N',N'',N'''-tetraacetate
127 Anti-Infective Agents, Local
128 Plasma Substitutes
129 Blood Substitutes
130 Anti-Infective Agents
131 cadexomer iodine
132 Vasodilator Agents
133 Tocolytic Agents
134 Calcium, Dietary
135 calcium channel blockers
136 Calamus
137 Phosphodiesterase Inhibitors
138 Central Nervous System Stimulants
139 Antioxidants
140 Angiogenesis Inhibitors
141 Protamines
142 Heparin, Low-Molecular-Weight
143 calcium heparin
144 Tin Fluorides
145 Insulin, Globin Zinc
146 insulin
147 Hypoglycemic Agents
148 Complement System Proteins
149
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(showing 90, show less)
# Name Status NCT ID Phase Drugs
1 Brief Intervention to Increase Safety Belt Use Among ED Patients Unknown status NCT00300859 Phase 4
2 Delaying the Progression of Driving Impairment in Individuals With Mild Alzheimer's Disease Completed NCT00476008 Phase 4 Memantine;Placebo
3 Tranexamic Acid in Knee Joint Surgery - a Randomised Controlled Trial Completed NCT02278263 Phase 4 Tranexamic Acid;Normal saline (0.9% NaCl)
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 Tranexamic Acid for the Treatment of Significant Traumatic Brain Injury: an International Randomised, Double Blind Placebo Controlled Trial Completed NCT01402882 Phase 3 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 Use of Tranexamic Acid in Liposculpture: A Double-blind, Multicenter, Randomized Trial Completed NCT04430777 Phase 2, Phase 3 Tranexamic acid
15 Blood Loss Reduction After Total Knee Arthroplasty. A Comparison Between Topical Tranexamic Acid and Platelet Rich Plasma: Controlled Clinical Trial Completed NCT02650856 Phase 3 Group 1 Tranexamic Acid
16 Tranexamic Acid for the Treatment of Gastrointestinal Haemorrhage: an International Randomised, Double Blind Placebo Controlled Trial Completed NCT01658124 Phase 3 Tranexamic Acid;Placebo
17 The Effect of Tranexamic Acid in Ruptured Abdominal Aortic Aneurysms Completed NCT02125890 Phase 3 Tranexamic Acid
18 Enzymatically Augmented Subcutaneous Infusion (EASI) In Out-Of-Hospital Care Completed NCT00386386 Phase 3
19 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
20 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
21 Aspirin, Losartan and Simvastatin in Hospitalised COVID-19 Patients: a Multinational Randomised Open-label Factorial Trial Not yet recruiting NCT04343001 Phase 3 Aspirin;Losartan;Simvastatin
22 Preventing Motor Vehicle Crashes Among Young Drivers: Evaluation of the AAA Checkpoints Program Completed NCT00920049 Phase 1, Phase 2
23 Fibrinogen Concentrate vs Cryoprecipitate in Traumatic Haemorrhage: A Pilot Randomised Controlled Trial Completed NCT02745041 Phase 2 Fibrinogen Concentrate
24 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)
25 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
26 Fibrinogen Concentrate vs Cryoprecipitate in Traumatic Haemorrhage in Children: A Pilot Randomised Controlled Trial Recruiting NCT03508141 Phase 2 Fibrinogen Concentrate;Cryoprecipitate
27 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
28 Hypothermia and Circulatory Arrest During Surgery on the Ascending Aorta: A Comparison Between Two Cooling Methods Unknown status NCT01306734
29 ME/CFS: Activity Patterns and Autonomic Dysfunction Unknown status NCT02948556
30 Preventable Paediatric Trauma - Retrospective Analysis Unknown status NCT01825343
31 Randomized Controlled Trial Evaluating the Effectiveness of Interactive Video Interventions to Reduce Teen Pregnancy and Teen Automobile Injuries Unknown status NCT02049710
32 A Randomized, Controlled Trial of Cannabis in Healthy Volunteers Evaluating Simulated Driving, Field Performance Tests and Cannabinoid Levels Unknown status NCT02849587 cannabis
33 Ultrasound Assessment of Gastric Content and Gastric Volume Before Crash Induction for Appendectomy Unknown status NCT02983175
34 Identifying the Relative Change in Ventilation With Changes in Infant Sleeping Position Unknown status NCT00382876
35 The CIHR Team in Driving in Older Persons (Candrive II) Research Program Unknown status NCT01237626
36 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
37 Audit of the Response Time of the Anaesthetic and Surgical Techniques for Crash Caesarean Section Completed NCT02314078
38 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
39 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
40 PREOPTI-POOP: Preoxygenation Optimisation in Obese Patients: High-flow Nasal Cannula Oxygen Versus Non-invasive Ventilation : A Single-centre Randomized Controlled Study. " Completed NCT03106441
41 Improving Motorcycle Taxi Driver Visibility in Tanzania—A Cluster Randomized Controlled Trial Completed NCT01733537
42 Concussion in Motor Vehicle Accidents: The Concussion Identification Index Completed NCT02858544
43 Effects of Experience on the Driving Performance of Novice Teen Drivers Completed NCT00340561
44 Influence of Alcohol and Peer Passengers on Risky Driving Behavior in Young Adults Completed NCT01595659
45 The Effect of Red Blood Cells Transfusion in Trauma Patients: A Risk Stratified Analysis Completed NCT01746953
46 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
47 Efficacy of "5-hour Energy"®, "5-Hour Energy Decaf"®, and Caffeine for Perceived Energy and Wakefulness Completed NCT01755299
48 Teenage Passenger Influences on the Simulated Driving Performance of Teenage Drivers Completed NCT00716378
49 Pharmacokinetics of Rocuronium (1 mg/kg) for Deep Block : a Prospective Observational Study Completed NCT03545308 Rocuronium
50 Promoting Teen Health: A Web-based Intervention to Prevent Risky Driving Completed NCT02319317
51 Multi-tasking to Hyper-tasking: Investigating the Impact of Next Generation 911 Completed NCT02961621
52 The Influence of Bupivacaine Temperature on Supraclavicular Plexus Block Characteristics Completed NCT03265886 Warm bupivacaine at (37°c);Bupivacaine at operating room temperature (23°c)
53 Persistent Pain and Associated Functional Decline Among Elderly Experiencing Motor Vehicle Collision Completed NCT02054962
54 The Effectiveness of Car Seat Checks at Routine Pediatric Visits Completed NCT00152568
55 Shared Decision Making for Prostate Cancer Screening: a Practice-Based Randomized Controlled Trial Completed NCT00630188
56 An Evaluation of a Web-based Intervention Program for Parents and Teens to Promote Safe Driving Completed NCT01498575
57 A Prospective Examination of Infant Transition From Car Bed to Car Safety Seat Completed NCT00953316
58 Parent-based Intervention to Increase Safe Teen Driving Completed NCT01014923
59 Assessment of Near Infrared Spectroscopy as a Diagnostic Tool in Acute Compartment Syndrome Completed NCT01077934
60 Self-help Program for Hypnotics Withdrawal in Chronic Insomniac Patients: A Randomized Controlled Clinical Trial Completed NCT02720458
61 Young Driver Intervention Study: Preventing Motor Vehicle Crashes Among Young Drivers Completed NCT00062829
62 A Randomized Study to Compare Oral Appliances to Standard CPAP Therapy in Patients With OSAHS, and to Assess Its Safety, Tolerability and Efficacy and Preference Over CPAP for Its Short-term Use. Completed NCT00358605
63 Efficacy of a Driving Program on Safe Community Mobility for Combat Veterans Completed NCT02764983
64 Effect of Social Marketing on Attitudes Towards Protective Headwear in Older Adults to Reduce Traumatic Brain Injury Completed NCT01582464
65 Assessment of Immediate Adverse Reactions in Children Under 2 Years of Age Following Administration of Gadoteric Acid (Gd-DOTA or Dotarem) Completed NCT02609919 Gadoteric Acid
66 A Multicentre Observational Case-controlled Feasibility Study: In Children Who Ride Bikes or Scooters, is the Risk of Sustaining a Serious Injury Greater When Metal Handlebar Ends Are Exposed Than When They Are Covered by Intact Grips? Completed NCT02378311
67 Antiseptic Preparation of the Rectum Prior to Transrectal Prostate Biopsy Completed NCT00999427 Povidone-iodine
68 Efficacy of Nifedipine Versus Hydralazine in Management of Severe Hypertension in Pregnancy - A Randomised Controlled Trial Completed NCT04435210 Hydralazine;Nifedipine
69 The Prevalence of Road Crash Involvement and Its Associated Factors Among Medical Doctors in Malaysia : A Cross Sectional Study Recruiting NCT04243291
70 PREOPTI-DAM: High-flow Nasal Cannula Oxygen Versus Standard Oxygenation During Intubation for Patient at Risk of Difficult Intubation: A Randomized Controlled Clinical Trial Recruiting NCT03604120
71 Using Advanced Driver Assistance Systems (ADAS) as an Intervention Strategy for Drivers With Parkinson's Disease Recruiting NCT03195608
72 Outcomes of Traumatic Brain Injury and External Validation of CRASH Prognostic Model in a Tertiary Care Public University Hospital Recruiting NCT03932500
73 Impact of AMATEA™️ on Physiological Measures and Gaming Performance in Active Gamers: a Placebo Controlled, Double-blind, Randomized Study Recruiting NCT04234529
74 First-line Combination of Capecitabine and Oxaliplatin + Bevacizumab in Elderly Patients With Metastatic Colorectal Cancer Recruiting NCT03451370 Capecitabine;Oxaliplatin;Bevacizumab
75 Standard Motorcycle Child Safety Helmet Initiative Program for the Safety of Child Pillion Riders in Malaysia Recruiting NCT03619473
76 Sysytematic Evaluation of Heparin and Protamine in Cardiac Surgery Recruiting NCT03787641 Protamine Sulfate
77 Developing and Validating Blood and Imaging BIOmarkers of AXonal Injury Following Traumatic Brain Injury Recruiting NCT03534154
78 Improving ADHD Teen Driving Recruiting NCT02848092
79 Clinical Study of Imagery-based Coping for Cocaine Use Disorder Recruiting NCT03656653
80 Tranexamic Acid Administered After Delivery: Maternal Pharmacokinetics, Pharmacodynamics, and Coagulation Status Recruiting NCT03863964 Early Phase 1
81 IV Tranexamic Acid Prior to Hysterectomy for Reduction of Intraoperative Blood Loss: A Randomized Placebo-Controlled Trial Recruiting NCT02911831 Early Phase 1 Tranexamic Acid;Sodium Chloride
82 The Determination of Important Mechanical Patterns of Left Ventricular Efficiency-MV02 Study Active, not recruiting NCT01807819
83 Behavioral Profile Matching: A Precision Medicine Approach to Concussion Rehabilitation Active, not recruiting NCT03972579
84 An Expanded Evaluation of the Safety of Clinically Indicated Magnetic Resonance Imaging (MRI) in Patients With Pacemakers and Implanted Cardioverter Defibrillators Enrolling by invitation NCT02888353
85 Epidemiology of Oral and Maxillofacial Trauma in Province 2, Nepal Enrolling by invitation NCT04059315
86 Trial of Early Initiation of CGM-Guided Insulin Therapy in Stage 2 T1D Not yet recruiting NCT04335513
87 Validation of a New Tool for a Numeric Pre-anesthesic Evaluation for Pregnant Women During Their Pregnancy Follow-up in University and Regional Maternity of Nancy (France) Not yet recruiting NCT04214223
88 Fully Integrated Drone-system for Delivery of an Automated External Defibrillator (AED) in Out-of-hospital Cardiac Arrest (OHCA) Before the Arrival of Emergency Medical Services (EMS) Not yet recruiting NCT04415398
89 Impact of Inspired Oxygen Fraction on Outcome in Patients With Traumatic Brain Injury Terminated NCT01201291
90 Effect of Music on Attention and Prospective Memory in Hepatic Encephalopathy Withdrawn NCT01882855

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 Masa Syndrome 29 L1CAM
3 X-Linked Hydrocephalus Syndrome 29 L1CAM

Anatomical Context for Masa Syndrome

MalaCards organs/tissues related to Masa Syndrome:

40
Brain, Testes, Liver, Prostate, Skeletal Muscle, Kidney

Publications for Masa Syndrome

Articles related to Masa Syndrome:

(showing 110, show less)
# Title Authors PMID Year
1
Clinical aspects of the MASA syndrome in a large family, including expressing females. 61 56 6 24
8062435 1994
2
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. 56 6 61 54
7562969 1995
3
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. 61 56 6 54
7920660 1994
4
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 56 6 61
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. 56 24 61
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. 24 56 61
4855169 1974
10
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. 56 61 54
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 6 61
20301657 2004
13
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. 24 54 61
11772994 2002
14
Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28. 56 61
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. 56 61
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. 56 61
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. 24 61
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
L1CAM mutation in a boy with hydrocephalus and duplex kidneys. 54 61
17294222 2007
39
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. 24
17318848 2007
40
Expanding the phenotypic spectrum of L1CAM-associated disease. 24
16650080 2006
41
First case of L1CAM gene mutation identified in MASA syndrome in Asia. 61 54
15904436 2005
42
Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius. 24
15368500 2004
43
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. 24
15148591 2004
44
The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo. 24
12514225 2003
45
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 24
11857550 2002
46
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. 24
10797421 2000
47
Neural cell recognition molecule L1: relating biological complexity to human disease mutations. 24
10767310 2000
48
What's in a name? 24
9788567 1998
49
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 61 54
9643285 1998
50
Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling. 24
9625330 1998
51
Neural cell recognition molecule L1: from cell biology to human hereditary brain malformations. 24
9568396 1998
52
Evidence for somatic and germline mosaicism in CRASH syndrome. 24
9452110 1998
53
L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. 61 54
9440802 1997
54
Tissue-specific expression of the L1 cell adhesion molecule is modulated by the neural restrictive silencer element. 24
9298989 1997
55
Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. 24
9279760 1997
56
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