IEMbase 0751: LPIN2-related lipin 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 751 |
| Nosology | 14.4.04.01 |
| Nosology code | IEM0658 |
| Gene | LPIN2 |
| External IDs | OMIM:609628; ORPHA:77297 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase labels this autosomal recessive record as LPIN2-related lipin 2 deficiency, with alternate name Majeed syndrome. The phenotype signal combines inflammatory bone disease, anemia, and skin findings: recurrent fever, bone pain, psoriasiform dermatitis, short stature, cholestatic or episodic jaundice, neutropenia, microcytic hypochromic anemia, dyserythropoietic anemia, and hepatosplenomegaly. Biochemical and laboratory rows include elevated transaminases, elevated erythrocyte sedimentation rate, low hemoglobin, and normal serum iron.
DisMech phenotype coverage
No exact LPIN2 / Majeed syndrome entry is present locally. Sweet_Syndrome.yaml
mentions a retired Majeed Syndrome chapter as source context, but it does not
constitute disease coverage. Other entries cover isolated components such as
dyserythropoietic anemia, inflammatory disease, or bone pain, but not the
LPIN2-related syndrome.
Concordance and completeness
Judgement: true local gap.
The IEMbase record is clinically coherent for Majeed syndrome and should not be collapsed into generic anemia, autoinflammatory, or dermatologic entries.
Curation actions
- Add a distinct LPIN2 / Majeed syndrome target before treating this IEMbase disease as covered.
- Preserve the triad of inflammatory bone disease, congenital or dyserythropoietic anemia, and neutrophilic/psoriasiform skin disease.
- Track transaminase, ESR, hemoglobin, serum iron, and neutropenia rows as source-specific curation prompts.