Renal Tubulopathies and related disorders
Gene: PHEX
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hypophosphatemic rickets, MIM#307800
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hypophosphatemic rickets
Publications
Variants in this GENE are reported as part of current diagnostic practice
Nephrocalcinosis well reported in this condition.
Sources: LiteratureCreated: 16 Jan 2020, 5:11 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hypophosphatemic rickets, X-linked dominant; OMIM #307800
Publications
gene: PHEX was added gene: PHEX was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHEX were set to 31065622 Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant; OMIM #307800