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ONTOLOGY REPORT - ANNOTATIONS


Term:Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
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Accession:DOID:9001649 term browser browse the term
Definition:Aside from the clinical features of infantile cataract, skin abnormalities, and impaired intellectual development, CASGID is characterized by strikingly high intracerebral and urinary glutamate excess with almost undetectable glutamine. A gain-of-function mutation in the glutaminase (GLS) gene was found. GLS loss of function is implicated in a form of neonatal epileptic encephalopathy (EIEE71) and a syndrome of global developmental delay and progressive ataxia (GDPAG). (OMIM)
Synonyms:exact_synonym: CASGID
 primary_id: OMIM:618339
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Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link 9 54,212,622 54,284,879 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Neurodevelopmental Disorders 4083
        intellectual disability 1713
          Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            disease of mental health 5530
              developmental disorder of mental health 2719
                specific developmental disorder 1891
                  intellectual disability 1713
                    Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.