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ORPHA:742Disease
Also called Hyperimidodipeptiduria
What it is
Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
Key facts
- Prevalence
- <1 / 1 000 000 (at birth, Canada)
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
19- Abnormal facial shape
- Abnormality of the hip bone
- Abnormality of the immune system
- Abnormality of the middle ear
- Aplasia/Hypoplasia of the skin
- Carious teeth
- Crusting erythematous dermatitis
- Cutaneous photosensitivity
- Depressed nasal bridge
- Dry skin
- Erythema
- Hearing impairment
- Hyperkeratosis
- Palmoplantar keratoderma
- Papule
- Pruritus
- Recurrent respiratory infections
- Skin ulcer
- Thin skin
Common30–79%
13These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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