Lesch-Nyhan syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Hypoxanthine guanine phosphoribosyltransferase complete deficiency
HPRT complete deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
HPRT deficiency grade IV
Number of Symptoms 52
OrphanetNr: 510
OMIM Id: 300322
308950
ICD-10: E79.1
UMLs: C0023374
MeSH: D007926
MedDRA: 10057589
Snomed: 10406007

Prevalence, inheritance and age of onset:

Prevalence: 0.34 [Orphanet]
Inheritance: X-linked
X-linked recessive
23622405 [IBIS]
Age of onset: Infancy
18067674 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Hypoxanthine-guanine phosphoribosyltransferase deficiency
 -Rare genetic disease
 -Rare hematologic disease
 -Rare neurologic disease
 -Rare renal disease

Comment:

Lesch-Nyhan syndrome and its variants are inherited in a sex-linked recessive manner, with virtually all cases being males (PMID:23622405).

Symptom Information: Sort by abundance 

1
 (HPO:0007166) Paroxysmal dyskinesia 18067674 IBIS 3 / 7739
2
 (HPO:0002071) Abnormality of extrapyramidal motor function 18067674 IBIS 76 / 7739
3
 (HPO:0009088) Speech articulation difficulties 18067674 IBIS 4 / 7739
4
 (HPO:0002036) Hiatus hernia 18067674 IBIS 24 / 7739
5
 (HPO:0001935) Microcytic anemia 18067674 IBIS 32 / 7739
6
 (HPO:0003487) Babinski sign 18067674 IBIS 179 / 7739
7
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 18067674 IBIS 129 / 7739
8
 (HPO:0001347) Hyperreflexia 18067674 IBIS 363 / 7739
9
 (HPO:0002179) Opisthotonus 18067674 IBIS 35 / 7739
10
 (HPO:0002015) Dysphagia 18067674 IBIS 301 / 7739
11
 (HPO:0001260) Dysarthria 18067674 IBIS 329 / 7739
12
 (HPO:0001257) Spasticity 18067674 IBIS 251 / 7739
13
 (HPO:0005681) Juvenile rheumatoid arthritis 18067674 IBIS 2 / 7739
14
 (HPO:0001369) Arthritis 18067674 IBIS 44 / 7739
15
 (HPO:0002013) Vomiting 18067674 IBIS 191 / 7739
16
 (HPO:0001941) Acidosis 18067674 IBIS 9 / 7739
17
 (HPO:0000787) Nephrolithiasis 23622405; 23975452; 18067674 IBIS 78 / 7739
18
 (HPO:0006000) Ureteral obstruction 23975452; 18067674 IBIS 3 / 7739
19
 (HPO:0001263) Global developmental delay 18067674 IBIS 853 / 7739
20
 (HPO:0001256) Intellectual disability, mild 23975452; 18067674 IBIS 141 / 7739
21
 (HPO:0002342) Intellectual disability, moderate 23975452; 18067674 IBIS 37 / 7739
22
 (HPO:0003149) Hyperuricosuria 23975452; 18067674 IBIS 7 / 7739
23
 (HPO:0001889) Megaloblastic anemia 18067674 IBIS 28 / 7739
24
 (HPO:0100716) Self-injurious behavior 23622405; 23975452; 18067674 IBIS 43 / 7739
25
 (HPO:0000736) Short attention span 23975452; 18067674 IBIS 16 / 7739
26
 (HPO:0100543) Cognitive impairment 23622405; 18067674 IBIS 230 / 7739
27
 (HPO:0001266) Choreoathetosis 23622405; 18067674 IBIS 57 / 7739
28
 (HPO:0001332) Dystonia 23622405; 18067674 IBIS 197 / 7739
29
 (HPO:0000791) Uric acid nephrolithiasis 18067674 IBIS 4 / 7739
30
 (HPO:0001997) Gout 23622405; 23975452; 18067674 IBIS 18 / 7739
31
 (HPO:0002149) Hyperuricemia Very frequent [Orphanet] 23622405; 23975452; 18067674 IBIS 37 / 7739
32
 (HPO:0007325) Generalized dystonia 23975452 IBIS 7 / 7739
33
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 23975452 IBIS 212 / 7739
34
 (HPO:0001270) Motor delay 23975452 IBIS 322 / 7739
35
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 23975452; 18067674 IBIS 232 / 7739
36
 (HPO:0012433) Abnormal social behavior 23975452 IBIS 7 / 7739
37
 (HPO:0001249) Intellectual disability 23622405; 23975452 IBIS 1089 / 7739
38
 (HPO:0011442) Abnormality of central motor function 23975452 IBIS 76 / 7739
39
 (HPO:0000718) Aggressive behavior 23622405 IBIS 109 / 7739
40
 (HPO:0002492) Abnormality of the corticospinal tract 23622405 IBIS 2 / 7739
41
 (HPO:0001290) Generalized hypotonia 23622405 IBIS 51 / 7739
42
 (HPO:0002275) Poor motor coordination 23622405 IBIS 6 / 7739
43
 (HPO:0000790) Hematuria Frequent [Orphanet] 106 / 7739
44
 (HPO:0000029) Testicular atrophy 13 / 7739
45
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
46
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
47
 (HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
48
 (HPO:0001854) Podagra 2 / 7739
49
 (HPO:0004322) Short stature 1232 / 7739
50
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
51
 (HPO:0001252) Muscular hypotonia 990 / 7739
52
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

HPRT1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: