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Encephalopathy due to hydroxykynureninuria
1 OMIM reference -
1 associated gene
13 connected diseases
No signs/symptoms info
Disease Type of connection
Intellectual deficit, X-linked, Snyder type
Charcot-Marie-Tooth disease type 4D
Estrogen resistance syndrome
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Hemolytic anemia due to glutathione reductase deficiency
Prolidase deficiency
Sanfilippo syndrome type D
Cap myopathy
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Inflammatory myofibroblastic tumor
Intermediate nemaline myopathy
Synonym(s):
- Kynureninase deficiency
- Xanthurenic aciduria
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KYNU Q16719605197
No signs/symptoms info available.