PHLU
MCID: PHS019
MIFTS: 17

Phosphohydroxylysinuria (PHLU)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Phosphohydroxylysinuria

MalaCards integrated aliases for Phosphohydroxylysinuria:

Name: Phosphohydroxylysinuria 57 72 29 6 39 70
Phlu 57 72

Classifications:



External Ids:

OMIM® 57 615011
MeSH 44 D008661
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Phosphohydroxylysinuria, also known as phlu, is related to neurometabolic disease. An important gene associated with Phosphohydroxylysinuria is PHYKPL (5-Phosphohydroxy-L-Lysine Phospho-Lyase). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot : 72 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

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

# Related Disease Score Top Affiliating Genes
1 neurometabolic disease 10.0

Symptoms & Phenotypes for Phosphohydroxylysinuria

Clinical features from OMIM®:

615011 (Updated 20-May-2021)

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

MalaCards organs/tissues related to Phosphohydroxylysinuria:

40
Kidney

Publications for Phosphohydroxylysinuria

Articles related to Phosphohydroxylysinuria:

# Title Authors PMID Year
1
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria. 6 57 61
23242558 2013
2
O-phosphohydroxylysinuria: a new inborn error of metabolism? 57 61
2387074 1990
3
Group tests for selective screening of inborn errors of metabolism. 57
7957383 1994
4
[Are new forms of primary health care organization (PHLU) associated with a better health care experience for patients with chronic diseases in Quebec?]. 61
26168625 2015
5
Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine. 61
22241472 2012
6
Intracellular pH regulation by the plasma membrane V-ATPase in Malpighian tubules of Drosophila larvae. 61
8089311 1994
7
Luminal pH in the amphibian distal tubule: effects of carbonic anhydrase and carbonic anhydrase inhibitors. 61
1481935 1992
8
Activation of luminal Na+/H+ exchange in distal nephron of frog kidney. An early response to aldosterone. 61
3037482 1987

Variations for Phosphohydroxylysinuria

ClinVar genetic disease variations for Phosphohydroxylysinuria:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHYKPL NM_153373.4(PHYKPL):c.718G>A (p.Gly240Arg) SNV Pathogenic 39569 rs201105857 GRCh37: 5:177649565-177649565
GRCh38: 5:178222564-178222564
2 PHYKPL NM_153373.4(PHYKPL):c.1310A>T (p.Glu437Val) SNV Pathogenic 39570 rs142181517 GRCh37: 5:177638965-177638965
GRCh38: 5:178211964-178211964

UniProtKB/Swiss-Prot genetic disease variations for Phosphohydroxylysinuria:

72
# Symbol AA change Variation ID SNP ID
1 PHYKPL p.Gly240Arg VAR_069543 rs201105857
2 PHYKPL p.Glu437Val VAR_069544 rs142181517

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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