fatale X-gebonden ataxie met doofheid en blindheid (aandoening)
fatale X-gebonden ataxie met doofheid en blindheid
syndroom van Arts
letale ataxie met doofheid en opticusatrofie
Arts syndrome
Lethal ataxia-deafness-optic atrophy
Fatal X-linked ataxia with deafness and loss of vision
Syndrome with characteristics of intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Other manifestations included floppiness, susceptibility to infections and later flaccid tetraplegia and areflexia. It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localized to Xq22.1-q24, leading to impaired purine biosynthesis. Transmitted as an X-linked recessive trait. The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract.
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1187
SNOMED CT to ICD-10 extended map
AdviceALWAYS E79.8
CorrelationSNOMED CT source code to target map code correlation not specified