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Summary
DENT DISEASE 1
NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED (CLCN5)
300009
OMIM = Online Medalian Inheritance of Men
93622
Xp11.23
rare
X-linked recessive
mutation in the CLCN5 gene

over 20% of patients did not have CLCN5 or OCRL1 mutations, suggesting the existence of other genetic factors [Zhang Y et al. 2017]
symptoms
aminoaciduria
bone fractures
Fanconi syndrome
growth retardation, poor growth
limb abnormalities, limb deformities
nephrocalcinosis
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
pain, bones or joints
proteinuria
renal failure, acute/chronic
rickets
short stature
urolithiasis, kidney stones
laboratory finding
Calcium mmol/mol creatinineurine
Phosphate mmol/mol creatinineurine
D-Glucose mmol/mol Creaurine
Literature
Ijlst L,Wanders RJA simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblastsAnn Clin Biochem303293-2971993
Rath M,et al.Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport diseaseJ Neurol Sci3790296-2972017
Rilstone JJ,Alkhater RA, Minassian BABrain dopamine-serotonin vesicular transport disease and its treatmentN Engl J Med3686543-5502013
Anderson M,et al.Dicarboxylic Acid Excretion in Normal Formula-Fed and Breastfed InfantsNutr Clin Pract002016
Jacobsen JC,et al.Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorderJ Inherit Metab Dis392305-3082016
Mornet E,Nunes MEHypophosphatasiaGeneReviews-« Internet002016
Numa-Kinjoh N,et al.Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasiaMol Genet Metab1154180-1852015
Wang ZY,et al.Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two casesBMC Oral Health161702016
He M,et al.Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delayJ Clin Invest1213976-9782011