oculocerebrorenal syndrome

Summary
Synonym
  • Lowe syndrome
  • lowe oculocerebrorenal syndrome
  • oculocerebrorenal syndrome of Lowe
Definition
A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
Super Class
X-linked recessive disease syndrome
External Links
Disease Ontology
DOID:1056
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
2539 G6PD glucose-6-phosphate dehydrogenase
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
3632 INPP5A inositol polyphosphate-5-phosphatase A
3635 INPP5D inositol polyphosphate-5-phosphatase D
4534 MTM1 myotubularin 1
4669 NAGLU N-acetyl-alpha-glucosaminidase
4952 OCRL OCRL inositol polyphosphate-5-phosphatase
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5728 PTEN phosphatase and tensin homolog
51763 INPP5K inositol polyphosphate-5-phosphatase K
The Human Phenotype Ontology
Displaying entries 1 - 10 of 148 in total
HPO ID HPO Term
HP:0000023 Inguinal hernia
HP:0000027 Azoospermia
HP:0000028 Cryptorchidism
HP:0000083 Renal insufficiency
HP:0000091 Abnormal renal tubule morphology
HP:0000093 Proteinuria
HP:0000121 Nephrocalcinosis
HP:0000164 Abnormality of the dentition
HP:0000189 Narrow palate
HP:0000194 Open mouth
Displaying 1 entry
Gene ID Gene Symbol Description
4952 OCRL OCRL inositol polyphosphate-5-phosphatase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024