MCID: PHS019
MIFTS: 12

Phosphohydroxylysinuria

Categories: Genetic diseases

Aliases & Classifications for Phosphohydroxylysinuria

MalaCards integrated aliases for Phosphohydroxylysinuria:

Name: Phosphohydroxylysinuria 57 75 29 6 40 73
Phlu 57 75

Classifications:



External Ids:

OMIM 57 615011
MeSH 44 D008661
UMLS 73 C3554344

Summaries for Phosphohydroxylysinuria

OMIM : 57 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 : 75 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 29 PHYKPL

Anatomical Context for Phosphohydroxylysinuria

Publications for Phosphohydroxylysinuria

Articles related to Phosphohydroxylysinuria:

# Title Authors Year
1
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria. ( 23242558 )
2012
2
O-phosphohydroxylysinuria: a new inborn error of metabolism? ( 2387074 )
1990

Variations for Phosphohydroxylysinuria

UniProtKB/Swiss-Prot genetic disease variations for Phosphohydroxylysinuria:

75
# 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 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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