Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000112 Nephropathy Very frequent (99-80%)
HP:0000545 Myopia Very frequent (99-80%)
HP:0000567 Chorioretinal coloboma Very frequent (99-80%)
HP:0000639 Nystagmus Very frequent (99-80%)
HP:0000787 Nephrolithiasis Very frequent (99-80%)
HP:0001116 Macular coloboma Very frequent (99-80%)
HP:0007703 Abnormality of retinal pigmentation Very frequent (99-80%)
HP:0100530 Abnormal calcium-phosphate regulating hormone level Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000790 Hematuria Frequent (79-30%)
HP:0001537 Umbilical hernia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
CLDN19 claudin 19 149461