Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase

Preferred Label : Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Nyhan et al. (1969) reported a 3-year-old boy with mental retardation, dysplastic teeth, failure to cry with tears, absent speech, and autistic behavior. HGPT was normal, whereas the activity of adenine phosphoribosyltransferase was increased. Nothing is known about its genetics. *FIELD* RF 1. Nyhan, W. L.; James, J. A.; Teberg, A. J.; Sweetman, L.; Nelson, L. G.: A new disorder of purine metabolism with behavioral manifestations. J. Pediat. 74: 20-27, 1969. *FIELD* CS Neuro: Mental retardation; Failure to cry; Absent speech; Autistic behavior;

Inheritance : ? Autosomal recessive;

Prefixed ID : 240000;

Details

Origin ID

240000;

UMLS CUI

C1855884;

Currated CISMeF NLP mapping
- hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase [MeSH concept]
- hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Absent speech [HPO term]
- Alacrima [HPO term]
- Autism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hyperuricemia [HPO term]
- Intellectual disability [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase [MeSH Supplementary Concept]
- hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase [MeSH concept]

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