MCID: HYD030
MIFTS: 24

Hydroxykynureninuria

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Hydroxykynureninuria

MalaCards integrated aliases for Hydroxykynureninuria:

Name: Hydroxykynureninuria 57 53 75 37 29 55 6 40 73
Xanthurenic Aciduria 57 53 59 75
Kynureninase Deficiency 53 59
Encephalopathy Due to Hydroxykynureninuria 59
Kynureninase Deficiency, Partial 57
Partial Kynureninase Deficiency 75
Hyxky 75

Characteristics:

Orphanet epidemiological data:

59
encephalopathy due to hydroxykynureninuria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hydroxykynureninuria:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 236800
Orphanet 59 ORPHA79155
UMLS via Orphanet 74 C0268474
ICD10 via Orphanet 34 E70.8
MedGen 42 C0268474
MeSH 44 D000592
KEGG 37 H01583
ICD10 33 G93.4
UMLS 73 C0268474

Summaries for Hydroxykynureninuria

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79155Disease definitionEncephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessivetrait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hydroxykynureninuria, also known as xanthurenic aciduria, is related to vertebral, cardiac, renal, and limb defects syndrome 2. An important gene associated with Hydroxykynureninuria is KYNU (Kynureninase), and among its related pathways/superpathways is Tryptophan metabolism. Related phenotypes are intellectual disability and hypotension

UniProtKB/Swiss-Prot : 75 Hydroxykynureninuria: An inborn error of amino acid metabolism characterized by massive urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine and xanthurenic acid. Affected individuals manifest renal tubular dysfunction, metabolic acidosis, psychomotor retardation, non- progressive encephalopathy, and muscular hypertonia.

Description from OMIM: 236800

Related Diseases for Hydroxykynureninuria

Diseases related to Hydroxykynureninuria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vertebral, cardiac, renal, and limb defects syndrome 2 11.0

Symptoms & Phenotypes for Hydroxykynureninuria

Symptoms via clinical synopsis from OMIM:

57
GU:
renal tubular dysfunction
renal or metabolic acidosis

Cardiac:
tachycardia
arterial hypotension

Muscle:
muscular hypertonia

Lab:
kynureninuria
3-hydroxykynureninuria
xanthurenic aciduria
kynureninase deficiency

Neuro:
coma
mental retardation
psychomotor retardation
stereotyped gestures
nonprogressive encephalopathy

Ears:
congenital deafness

Respiratory:
irregular breathing

Misc:
both b6-responsive and b6-unresponsive forms are known
neurologic status worsened by viral illness


Clinical features from OMIM:

236800

Human phenotypes related to Hydroxykynureninuria:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 hypotension 32 HP:0002615
3 hearing impairment 32 HP:0000365
4 global developmental delay 32 HP:0001263
5 hypertonia 32 HP:0001276
6 renal tubular dysfunction 32 HP:0000124
7 aminoaciduria 32 HP:0003355
8 coma 32 HP:0001259
9 abnormality of the musculature 32 HP:0003011
10 metabolic acidosis 32 HP:0001942
11 abnormality of the respiratory system 32 HP:0002086
12 tachycardia 32 HP:0001649
13 nonprogressive encephalopathy 32 HP:0007030

Drugs & Therapeutics for Hydroxykynureninuria

Search Clinical Trials , NIH Clinical Center for Hydroxykynureninuria

Genetic Tests for Hydroxykynureninuria

Genetic tests related to Hydroxykynureninuria:

# Genetic test Affiliating Genes
1 Hydroxykynureninuria 29 KYNU

Anatomical Context for Hydroxykynureninuria

Publications for Hydroxykynureninuria

Articles related to Hydroxykynureninuria:

# Title Authors Year
1
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase. ( 17334708 )
2007
2
Hydroxykynureninuria, a case report. ( 7152601 )
1982
3
Familial hydroxykynureninuria. ( 649181 )
1978
4
Hydroxykynureninuria. ( 6015911 )
1967
5
HYDROXYKYNURENINURIA: A CASE OF ABNORMAL TRYPTOPHAN METABOLISM PROBABLY DUE TO A DEFICIENCY OF KYNURENINASE. ( 14169454 )
1964

Variations for Hydroxykynureninuria

UniProtKB/Swiss-Prot genetic disease variations for Hydroxykynureninuria:

75
# Symbol AA change Variation ID SNP ID
1 KYNU p.Thr198Ala VAR_054401 rs606231307

ClinVar genetic disease variations for Hydroxykynureninuria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KYNU NM_003937.2(KYNU): c.592A> G (p.Thr198Ala) single nucleotide variant Pathogenic rs606231307 GRCh38 Chromosome 2, 142960633: 142960633
2 KYNU NM_003937.2(KYNU): c.592A> G (p.Thr198Ala) single nucleotide variant Pathogenic rs606231307 GRCh37 Chromosome 2, 143718202: 143718202

Expression for Hydroxykynureninuria

Search GEO for disease gene expression data for Hydroxykynureninuria.

Pathways for Hydroxykynureninuria

Pathways related to Hydroxykynureninuria according to KEGG:

37
# Name Kegg Source Accession
1 Tryptophan metabolism hsa00380

GO Terms for Hydroxykynureninuria

Sources for Hydroxykynureninuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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