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Prolidase deficiency
1 OMIM reference -
1 associated gene
12 connected diseases
40 signs/symptoms
Disease Type of connection
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Charcot-Marie-Tooth disease type 4D
Encephalopathy due to hydroxykynureninuria
Galactosialidosis
Hemolytic anemia due to glutathione reductase deficiency
Leigh syndrome with nephrotic syndrome
Lethal polymalformative syndrome, Boissel type
Pediatric systemic lupus erythematosus
Pyruvate dehydrogenase E3 deficiency
Sanfilippo syndrome type D
Spinocerebellar ataxia type 1
Synonym(s):
- Hyperimidodipeptiduria
Classification (Orphanet):
- Inborn errors of metabolism
- Rare circulatory system disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D056732
Gene symbol UniProt reference OMIM reference
PEPD P12955613230
Very frequent
- Anomalies of ear and hearing
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Depressed nasal bridge
- Dry / squaly skin / exfoliation
- Facial dysmorphism
- Flat cheek bones / malar hypoplasia
- Follicular / erythematous / edematous papules / milium
- Hearing loss / hypoacusia / deafness
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Multiple caries
- Palmoplantar hyperkeratosis / keratoderma
- Pruritus / itching
- Repeat respiratory infections
- Skin hypoplasia / aplasia / atrophy
- Skin photosensitivity
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Thin skin

Frequent
- Flattened nose
- Genu valgum
- Hirsutism / hypertrichosis / Increased body hair
- Hypertelorism
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Long hand / arachnodactyly
- Low hair line-front
- Micrognathia / retrognathia / micrognathism / retrognathism
- Retinitis pigmentosa / retinal pigmentary changes
- Simian crease / transverse / unique palmar crease
- Thin / hypoplastic / hyperconvex fingernails
- Visual loss / blindness / amblyopia
- White forelock / piebaldism

Occasional
- Bladder inflammation / cystitis / painful / irritable bladder
- Depressed premaxillary region / midface
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Proptosis / exophthalmos
- Splenomegaly