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IEMbase 0052: PEPD-related prolidase deficiency

Scope

Field Value
IEMbase ID 52
Nosology 2.2.08.01
Gene PEPD
External IDs OMIM:170100; OMIM:613230
Generated mapping UNMAPPED
Candidate DisMech targets None
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents this as autosomal recessive PEPD-related prolidase deficiency, also named iminodipeptiduria. Treatability is unknown.

The biochemical signature is markedly increased urinary alanylproline and glycylproline, increased urinary proline dipeptides, and possible anti-DNA antibodies. Characteristic clinical features are dysmorphic features, erythematous papular eruptions, psychomotor delay, recurrent respiratory infections, and skin ulceration.

Additional clinical features include anemia, thrombocytopenia, splenomegaly, telangiectasia, eczematous itching lesions, lymphedema, malar flush, recurrent otitis media, high arched palate, exophthalmus, hirsutism, hypertelorism, low posterior hairline, micrognathia, saddle nose, and small beaked nose. IEMbase lists no treatments.

DisMech phenotype coverage

There is no local DisMech entry for PEPD-related prolidase deficiency or iminodipeptiduria. The local search did not identify a plausible disease-level target.

Concordance and completeness

Judgement: true unmapped record. This is not just a biochemical footnote: the IEMbase cache gives a recognizable multisystem disorder with skin ulceration, recurrent infections, dysmorphism, hematologic findings, and proline-dipeptide biochemical markers.

The absence of a fuzzy candidate is appropriate. No existing local disorder captures the PEPD/prolidase enzymatic block or the iminodipeptiduria phenotype.

Curation actions

  • Keep the record unmapped.
  • Consider future standalone curation for prolidase deficiency because the IEMbase phenotype is clinically rich and mechanistically specific.
  • Preserve the biochemical anchor: urinary proline dipeptides, especially alanylproline and glycylproline, should drive any future mapping.