| congenitaal defect in deglycosylering door N-glycanase 1 (aandoening) | | congenitaal defect in deglycosylering door N-glycanase 1 | | NGLY1-congenital disorder of deglycosylation | | Alacrimia, choreoathetosis, liver dysfunction syndrome
Deficiency of N-glycanase 1
N-glycanase 1 congenital disorder of deglycosylation
| | An inherited disease with usual onset of signs in infancy. The severity of the signs and symptoms varies widely among people with the condition. Typical features include delayed development of speech and motor skills, hypotonia, choreoathetosis refractory seizures, problems with liver function, optic atrophy, alacrima. Caused by mutations in the NGLY1 gene. The enzyme produced from this gene N-glycanase 1, helps cells remove abnormal proteins. The gene mutation results in a severe reduction or absence of the enzyme function. Inherited in an autosomal recessive pattern. |
| | Id | 768846004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E77.8 | | Term | Overige gespecificeerde stoornissen van glycoproteïnemetabolisme |
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| SNOMED CT to Orphanet simple map | 404454 |
| SNOMED CT to ICD-10 extended map | | Target | E77.8 | | Rule | TRUE | | Advice | ALWAYS E77.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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