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IEMbase 0585: PHEX-related X-linked hypophosphatemia

Scope

Field Value
IEMbase ID 585
Nosology 25.1.06.01
Gene PHEX
External IDs OMIM:307800; ORPHA:89936
Generated mapping MAPPED; X-Linked_Hypophosphatemia.yaml
Candidate DisMech targets X-Linked_Hypophosphatemia.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents PHEX-related X-linked hypophosphatemia, with alternate labels familial hypophosphatemic rickets, vitamin D-resistant rickets, and XLH. The record is classified as unclassified nosology, lists X-linked dominant inheritance, has unknown treatability, and has no treatment rows.

Biochemical rows include increased alkaline phosphatase, decreased plasma phosphate, normal plasma calcium, and normal-to-increased urinary phosphate. Clinical rows include dental anomalies, muscle weakness, tinnitus, and waddling gait.

DisMech phenotype coverage

X-Linked_Hypophosphatemia.yaml is the correct local target. It models PHEX loss of function, excess FGF23, renal phosphate wasting, chronic hypophosphatemia, rickets/osteomalacia, short stature, dental abscesses or dental disease, hearing impairment, burosumab therapy, and conventional phosphate plus active vitamin D therapy.

Concordance and completeness

Judgement: correct exact mapping.

IEMbase and DisMech agree on PHEX, X-linked dominant inheritance, XLH identity, renal phosphate wasting, hypophosphatemia, rickets framing, and dental involvement. DisMech is stronger for the PHEX-FGF23 mechanism and treatment coverage.

IEMbase adds useful import prompts for alkaline phosphatase, normal calcium, urinary phosphate, tinnitus, muscle weakness, and waddling gait. The lack of treatments in IEMbase contrasts with DisMech's explicit burosumab and conventional phosphate/vitamin D coverage.

Curation actions

  • Keep X-Linked_Hypophosphatemia.yaml as the exact DisMech target.
  • Review alkaline phosphatase, calcium, urinary phosphate, tinnitus, muscle weakness, and waddling-gait prompts for possible phenotype enrichment.
  • Do not downgrade existing DisMech treatment coverage based on IEMbase's empty treatment rows.