Masa syndrome - CISMeF

Preferred Label : Masa syndrome;

CISMeF acronym : SPG1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Clasped thumb and mental retardation; Gareis-mason syndrome; Crash syndrome; Spastic paraplegia 1, X-linked; Adducted thumb with mental retardation; Mental retardation, aphasia, shuffling gait, and adducted thumbs; SPG1; Thumb, congenital clasped, with mental retardation;

Description : 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. - Genetic Heterogeneity of X-linked Spastic Paraplegia Other forms of X-linked spastic paraplegia included SPG2 (312920), which is caused by mutation in the myelin proteolipid protein gene (PLP1; 300401); SPG16 (300266), which maps to Xq11.2-q23; and SPG34 (300750), which maps to Xq24-q25.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the L1 cell adhesion molecule gene (L1CAM, 308840.0004);

Prefixed ID : #303350;

Details

Origin ID

303350;

UMLS CUI

C0795953;

Automatic exact mappings (from CISMeF team)
- Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) [SNOMED CT concept]
- L1CAM wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder) [SNOMED CT concept]
- MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MeSH concept]
- MASA (Mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome [MeSH Supplementary Concept]
- MASA Syndrome [NCIt concept]
- MASA syndrome [DO Concept]
- MASA syndrome [Disease (Nov.)]
- MASA syndrome [ICD-11 More detail]
- MASA syndrome [ORDO Disease]
- X-linked complicated spastic paraplegia type 1 [ORDO Disease]
DO Cross reference
- MASA syndrome [DO Concept]
False automatic mappings
- L1 syndrome [ORDO Disease]
Genes related to phenotype
- L1 cell adhesion molecule [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aphasia [HPO term]
- Hydrocephalus [HPO term]
- Hyperlordosis [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Lordosis [HPO term]
- Lower limb spasticity [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Paraplegia [HPO term]
- Pes cavus [HPO term]
- Short stature [HPO term]
- Shuffling gait [HPO term]
- Spastic paraplegia [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Ventriculomegaly [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- L1 syndrome [ORDO Disease]
- MASA syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) [SNOMED CT concept]
- Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder) [SNOMED CT concept]
- L1 syndrome [ORDO Disease]
- MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MeSH concept]
- MASA (Mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome [MeSH Supplementary Concept]
- MASA Syndrome [NCIt concept]
- MASA syndrome [ORDO Disease]
- MASA syndrome [DO Concept]
- MASA syndrome [Disease (Nov.)]
- X-linked complicated spastic paraplegia type 1 [ORDO Disease]

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