Encephalopathy due to hydroxykynureninuria

General Information (adopted from Orphanet):

Synonyms, Signs: kynureninase deficiency
xanthurenic aciduria
Number of Symptoms 22
OrphanetNr: 79155
OMIM Id: 236800
ICD-10: E70.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of tryptophan metabolism
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000124) Renal tubular dysfunction 46 / 7739
2
 (HPO:0003355) Aminoaciduria 65 / 7739
3
 (HPO:0000365) Hearing impairment 539 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0001259) Coma 65 / 7739
6
 (HPO:0001276) Hypertonia 317 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0007030) Nonprogressive encephalopathy 1 / 7739
9
 (HPO:0001649) Tachycardia 53 / 7739
10
 (HPO:0002615) Hypotension 52 / 7739
11
 (HPO:0001942) Metabolic acidosis 81 / 7739
12
 (HPO:0002086) Abnormality of the respiratory system 17 / 7739
13
 (HPO:0003011) Abnormality of the musculature 47 / 7739
14
 (OMIM) Kynureninuria 1 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) Irregular breathing 2 / 7739
17
 (OMIM) 3-hydroxykynureninuria 1 / 7739
18
 (OMIM) Kynureninase deficiency 1 / 7739
19
 (OMIM) Stereotyped gestures 1 / 7739
20
 (OMIM) Renal or metabolic acidosis 1 / 7739
21
 (OMIM) Muscular hypertonia 1 / 7739
22
 (OMIM) Xanthurenic aciduria 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: