PHLU
MCID: PHS019
MIFTS: 13

Phosphohydroxylysinuria (PHLU)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Phosphohydroxylysinuria

MalaCards integrated aliases for Phosphohydroxylysinuria:

Name: Phosphohydroxylysinuria 58 76 30 6 41 74
Phlu 58 76

Classifications:



External Ids:

OMIM 58 615011
MeSH 45 D008661
UMLS 74 C3554344

Summaries for Phosphohydroxylysinuria

OMIM : 58 Phosphohydroxylysinuria is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013). (615011)

MalaCards based summary : Phosphohydroxylysinuria, is also known as phlu. An important gene associated with Phosphohydroxylysinuria is PHYKPL (5-Phosphohydroxy-L-Lysine Phospho-Lyase).

UniProtKB/Swiss-Prot : 76 Phosphohydroxylysinuria: A condition characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites.

Related Diseases for Phosphohydroxylysinuria

Symptoms & Phenotypes for Phosphohydroxylysinuria

Clinical features from OMIM:

615011

Drugs & Therapeutics for Phosphohydroxylysinuria

Search Clinical Trials , NIH Clinical Center for Phosphohydroxylysinuria

Genetic Tests for Phosphohydroxylysinuria

Genetic tests related to Phosphohydroxylysinuria:

# Genetic test Affiliating Genes
1 Phosphohydroxylysinuria 30 PHYKPL

Anatomical Context for Phosphohydroxylysinuria

Publications for Phosphohydroxylysinuria

Articles related to Phosphohydroxylysinuria:

# Title Authors Year
1
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria. ( 23242558 )
2013
2
O-phosphohydroxylysinuria: a new inborn error of metabolism? ( 2387074 )
1990

Variations for Phosphohydroxylysinuria

UniProtKB/Swiss-Prot genetic disease variations for Phosphohydroxylysinuria:

76
# Symbol AA change Variation ID SNP ID
1 PHYKPL p.Gly240Arg VAR_069543 rs201105857
2 PHYKPL p.Glu437Val VAR_069544 rs142181517

ClinVar genetic disease variations for Phosphohydroxylysinuria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PHYKPL NM_153373.3(PHYKPL): c.718G> A (p.Gly240Arg) single nucleotide variant Pathogenic rs201105857 GRCh37 Chromosome 5, 177649565: 177649565
2 PHYKPL NM_153373.3(PHYKPL): c.718G> A (p.Gly240Arg) single nucleotide variant Pathogenic rs201105857 GRCh38 Chromosome 5, 178222564: 178222564
3 PHYKPL NM_153373.3(PHYKPL): c.1310A> T (p.Glu437Val) single nucleotide variant Pathogenic rs142181517 GRCh37 Chromosome 5, 177638965: 177638965
4 PHYKPL NM_153373.3(PHYKPL): c.1310A> T (p.Glu437Val) single nucleotide variant Pathogenic rs142181517 GRCh38 Chromosome 5, 178211964: 178211964

Expression for Phosphohydroxylysinuria

Search GEO for disease gene expression data for Phosphohydroxylysinuria.

Pathways for Phosphohydroxylysinuria

GO Terms for Phosphohydroxylysinuria

Sources for Phosphohydroxylysinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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