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IEMbase 0750: LPIN1-related lipin 1 deficiency

Scope

Field Value
IEMbase ID 750
Nosology 14.4.03.01
Nosology code IEM0657
Gene LPIN1
External IDs OMIM:268200; ORPHA:99845
Generated mapping UNMAPPED; weak candidate Autosomal_Recessive_Multiple_Pterygium_Syndrome.yaml
Candidate DisMech targets None exact; phenotype overlap with several rhabdomyolysis disorders
Review date 2026-07-07

IEMbase phenotype signal

IEMbase labels this autosomal recessive record as LPIN1-related lipin 1 deficiency, with alternate name acute recurrent autosomal recessive myoglobinuria. The source signal is centered on severe recurrent rhabdomyolysis: very high plasma creatine kinase and urinary myoglobin, muscle cramps, myoglobinuria, episodic or exercise-induced rhabdomyolysis, acute renal failure, and possible death. Most findings are present from childhood through adulthood, with possible infantile flags.

DisMech phenotype coverage

No exact LPIN1 / recurrent rhabdomyolysis entry is present locally. Several DisMech diseases carry rhabdomyolysis, myoglobinuria, or exercise intolerance phenotypes, including fatty acid oxidation and glycogen storage disorders, but those are different gene-disease entities.

The generated Autosomal_Recessive_Multiple_Pterygium_Syndrome.yaml candidate is a false positive. That entry concerns CHRNG-related fetal akinesia, contractures, and pterygia rather than LPIN1 phosphatidic acid phosphatase deficiency or recurrent rhabdomyolysis.

Concordance and completeness

Judgement: true local gap.

The IEMbase record provides a compact but strong phenotype and biochemical profile for LPIN1 deficiency. Existing rhabdomyolysis entries should be used as comparison context only; they do not cover LPIN1 disease identity.

Curation actions

  • Add a distinct LPIN1 / lipin 1 deficiency target before treating this IEMbase disease as covered.
  • Reject Autosomal_Recessive_Multiple_Pterygium_Syndrome.yaml as exact coverage.
  • Preserve CK elevation, myoglobinuria, exercise-induced or episodic rhabdomyolysis, acute renal failure, and death as high-priority curation prompts.