LESCH-NYHAN SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: HPRT DEFICIENCY, COMPLETE HPRT DEFICIENCY, NEUROLOGIC VARIANT, INCLUDED
HPRT1 DEFICIENCY
LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT, INCLUDED
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY
HPRT DEFICIENCY
LNS
Number of Symptoms 26
OrphanetNr:
OMIM Id: 300322
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000029) Testicular atrophy 13 / 7739
2
 (HPO:0003149) Hyperuricosuria 7 / 7739
3
 (HPO:0000787) Nephrolithiasis 78 / 7739
4
 (HPO:0001266) Choreoathetosis 57 / 7739
5
 (HPO:0001332) Dystonia 197 / 7739
6
 (HPO:0001260) Dysarthria 329 / 7739
7
 (HPO:0002015) Dysphagia 301 / 7739
8
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
9
 (HPO:0002179) Opisthotonus 35 / 7739
10
 (HPO:0001270) Motor delay 322 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0001997) Gout 18 / 7739
13
 (HPO:0002013) Vomiting 191 / 7739
14
 (HPO:0001510) Growth delay 295 / 7739
15
 (HPO:0004322) Short stature 1232 / 7739
16
 (HPO:0001903) Anemia 289 / 7739
17
 (HPO:0001889) Megaloblastic anemia 28 / 7739
18
 (HPO:0002149) Hyperuricemia 37 / 7739
19
 (HPO:0010547) Muscle flaccidity 466 / 7739
20
 (HPO:0001252) Muscular hypotonia 990 / 7739
21
 (HPO:0001324) Muscle weakness 859 / 7739
22
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
23
 (OMIM) Basal ganglia dysfunction 1 / 7739
24
 (OMIM) Self-injurious behavior, median onset age 2 years 1 / 7739
25
 (OMIM) Spasticity, hyperreflexia 1 / 7739
26
 (OMIM) Uric acid tophi 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The features of the Lesch-Nyhan syndrome are mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips. Megaloblastic anemia has been found by some (van der Zee et al., 1968). ...
Genotype-Phenotype Correlations OMIM There is variable disease severity in patients with Lesch-Nyhan syndrome, with an inverse relationship between HPRT1 enzyme activity measured in intact cells and clinical severity. Patients with classic Lesch-Nyhan disease, the most severe and frequent form, have the ...
Molecular genetics OMIM For a discussion of the molecular defects involved in Lesch-Nyhan syndrome, see the HPRT1 gene (308000).