Kelley-Seegmiller syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial
HPRT partial deficiency
HPRT deficiency, partial
HPRT1 deficiency, partial
Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
HPRT1 partial deficiency
HPRT deficiency, grade I
Gout, HPRT-related
HPRT-related hyperuricemia
HPRT-related gout
Number of Symptoms 8
OrphanetNr: 79233
OMIM Id: 300323
ICD-10: E79.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked
X-linked recessive
10657589 [IBIS]
Age of onset: All ages
[Orphanet]

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

Symptom Information: Sort by abundance 

1
 (HPO:0003149) Hyperuricosuria 10657589 IBIS 7 / 7739
2
 (HPO:0002149) Hyperuricemia 10657589 IBIS 37 / 7739
3
 (HPO:0001945) Fever 10657589 IBIS 218 / 7739
4
 (HPO:0001919) Acute kidney injury 10657589 IBIS 21 / 7739
5
 (HPO:0000787) Nephrolithiasis 78 / 7739
6
 (HPO:0000083) Renal insufficiency 232 / 7739
7
 (HPO:0001854) Podagra 2 / 7739
8
 (HPO:0001997) Gout 18 / 7739

Associated genes:

HPRT1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; 300322), whereas partial deficiency (at least 8%) is associated with the Kelley-Seegmiller syndrome. LNS is characterized by abnormal metabolic and neurologic manifestations. In contrast, Kelley-Seegmiller ...
Clinical Description OMIM In 5 male patients with gout, Kelley et al. (1967) found a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Two brothers in 1 family were 24 and 11 years old; three brothers in another family were 42, 49, and 55 years ...