Masa Syndrome (MASA)

Alias:

L1 Syndrome

Crash Syndrome

X-Linked Hydrocephalus Syndrome

Spg1

Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome

Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome

Spastic Paraplegia 1, X-Linked

Gareis-Mason Syndrome

L1cam Syndrome

Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome

Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus

Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs

X-Linked Complicated Hereditary Spastic Paraplegia Type 1

Thumb, Congenital Clasped, with Mental Retardation

Adducted Thumbs-Mental Retardation Syndrome

Mental Retardation-Clasped Thumb Syndrome

Adducted Thumb with Mental Retardation

Clasped Thumb and Mental Retardation

Spastic Paraplegia Type 1, X-Linked

X-Linked Corpus Callosum Agenesis

Hereditary Spastic Paraplegia 1

X-Linked Spastic Paraplegia 1

Spastic Paraplegia 1

Masa Syndrome

L1 Disease

Crash

Masa

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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 is Interaction between L1 and Ankyrins. The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related phenotypes are intellectual disability and spasticity

Related ID：

MALACARDS：MSS001

OMIM：303350

MESH：C536029