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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:MASA syndrome
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Accession:DOID:0060246 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: Crash syndrome;   Gareis-Mason syndrome;   L1 syndrome;   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome;   Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA);   Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs;   SPASTIC PARAPLEGIA 1, X-LINKED;   Spastic paraplegia, type 1;   Spg1;   Thumb, congenital clasped, with mental retardation;   X-LINKED HYDROCEPHALUS SYNDROME;   X-linked complicated hereditary spastic paraplegia type 1;   X-linked corpus callosum agenesis;   X-linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas);   adducted thumb with mental retardation;   clasped thumb and mental retardation;   hereditary spastic paraplegia 1
 primary_id: MESH:C536029
 alt_id: OMIM:303350;   RDO:0001441
 xref: GARD:6986;   NCI:C129930;   ORDO:2466
For additional species annotation, visit the Alliance of Genome Resources.


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MASA syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human)
ClinVar Annotator: match by OMIM:303350
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:924C>T(human)
DNA:deletion:exon:
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 1, X-LINKED
ClinVar Annotator: match by term: L1 syndrome
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
OMIM
ClinVar
CTD
PMID:1303258 PMID:1870106 PMID:3460961 PMID:7562969 PMID:7881431 More... RGD:6483061, RGD:11064095, RGD:11570406 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      MASA syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    MASA syndrome 1
paths to the root