Details of Disease

General Information of Disease (ID: DISEFI9B)

• Disease Name: MASA syndrome
• Synonyms: spastic paraplegia 1; intellectual disability aphasia shuffling Gait adducted thumbs (MASA); thumb congenital clasped with intellectual disability; intellectual disability, aphasia, shuffling Gait, and adducted thumbs; thumb, congenital Clasped, with intellectual disability; mental retardation, aphasia, shuffling Gait, and adducted thumbs; CRASH syndrome; Clasped thumb and mental retardation; thumb, congenital Clasped, with mental retardation; Clasped thumb and intellectual disability; mental retardation aphasia shuffling Gait adducted thumbs (MASA); thumb congenital clasped with mental retardation; adducted thumb with mental retardation; adducted thumb with intellectual disability; spastic paraplegia 1, X-linked; CRASH syndrome, X-linked recessive; MASA syndrome; Gareis-Mason syndrome; hereditary spastic paraplegia 1; X-linked complicated hereditary spastic paraplegia type 1; spastic paraplegia, X-linked; X-linked corpus callosum agenesis; masa syndrome, X-linked recessive; intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; X-linked spastic paraplegia 1
• Definition: MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISYPSZE: L1 syndrome
  DISEFI9B: MASA syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010559
  MESH ID: C536029
  UMLS CUI: C0795953
  OMIM ID: 303350
  MedGen ID: 162894
  Orphanet ID: 2466
  SNOMED CT ID: 838441009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PDXP	TT9UYG4	Limited	Genetic Variation	[1]
PRDX5	TTLPJWH	Limited	Genetic Variation	[1]
RNF6	TT4S09X	Limited	Genetic Variation	[1]
F7	TTF0EGX	Strong	Biomarker	[2]
L1CAM	TTC9D3K	Definitive	X-linked recessive	[3]
L1CAM	TTC9D3K	Definitive	Genetic Variation	[4]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ENOPH1	OTKXMWNN	Limited	Biomarker	[5]
PLP1	OT8CM9CX	Strong	Biomarker	[1]
L1CAM	OTNWAQ4Y	Definitive	X-linked recessive	[3]

References

• [1] Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).Am J Med Genet. 1999 Jan 15;82(2):132-9. doi: 10.1002/(sici)1096-8628(19990115)82:2<132::aid-ajmg6>3.0.co;2-4.
• [2] In silico method for identification of novel copper and iron metabolism proteins in various neurodegenerative disorders.Neurotoxicology. 2019 Jul;73:50-57. doi: 10.1016/j.neuro.2019.02.020. Epub 2019 Mar 1.
• [3] MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nat Genet. 1994 Jul;7(3):408-13. doi: 10.1038/ng0794-408.
• [4] Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.J Clin Endocrinol Metab. 2019 Dec 1;104(12):5737-5750. doi: 10.1210/jc.2019-00631.
• [5] A novel L1CAM mutation with L1 spectrum disorders.Prenat Diagn. 2005 Jan;25(1):57-9. doi: 10.1002/pd.978.