Prolidase deficiency

Preferred Label : Prolidase deficiency;

Type : Phenotype, molecular basis known;

Description : Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peptidase D gene (PEPD, 613230.0001);

Laboratory abnormalities : Hyperimidodipeptiduria; Deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts;

Prefixed ID : #170100;

Details

Origin ID

170100;

UMLS CUI

C0268532;

Automatic exact mappings (from CISMeF team)
- prolidase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Deficiency of prolidase (disorder) [SNOMED CT concept]
- Deficiency of proline dipeptidase (disorder) [SNOMED CT concept]
- Prolidase Deficiency [NCIt concept]
- Prolidase deficiency [ICD-11 Sub-sub category]
- Prolidase deficiency [ORDO Disease]
- prolidase deficiency [Disease (Nov.)]
- prolidase deficiency [MeSH Descriptor]
- prolidase deficiency [MeSH concept]
- proline dipeptidase deficiency [SNOMED Notion]
DO Cross reference
- prolidase deficiency [DO Concept]
Genes related to phenotype
- Peptidase D [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Chronic lung disease [HPO term]
- Concave nasal ridge [HPO term]
- Crusting erythematous dermatitis [HPO term]
- Depressed nasal bridge [HPO term]
- Diffuse telangiectasia [HPO term]
- Eczema [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Facial hirsutism [HPO term]
- Failure to thrive [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- Hyperimidodipeptiduria [HPO term]
- Hypertelorism [HPO term]
- Increased circulating antibody level [HPO term]
- Low posterior hairline [HPO term]
- Micrognathia [HPO term]
- Mild global developmental delay [HPO term]
- Petechiae [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Prominent forehead [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Recurrent infections [HPO term]
- Recurrent pneumonia [HPO term]
- Short nose [HPO term]
- Skin ulcer [HPO term]
- Splenomegaly [HPO term]
- Systemic lupus erythematosus [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Prolidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of imidodipeptidase (disorder) [SNOMED CT concept]
- Deficiency of prolidase (disorder) [SNOMED CT concept]
- Deficiency of proline dipeptidase (disorder) [SNOMED CT concept]
- Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder) [SNOMED CT concept]
- Prolidase Deficiency [NCIt concept]
- Prolidase deficiency [ORDO Disease]
- Prolidase deficiency [ICD-11 Sub-sub category]
- prolidase deficiency [MeSH Descriptor]
- prolidase deficiency [MeSH concept]
- prolidase deficiency [Disease (Nov.)]
- prolidase deficiency [DO Concept]
- proline dipeptidase deficiency [SNOMED Notion]

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