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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Prolidase deficiency


Other Names for this Disease

  • Hyperimidodipeptiduria
  • Imidodipeptidase deficiency
  • PD
  • Peptidase deficiency
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Symptoms

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What are the signs and symptoms of prolidase deficiency?

The signs and symptoms of prolidase deficiency are frequently detectable after birth or early childhood and can vary significantly. One of the main characteristics of prolidase deficiency is the elimination of high amounts of proteins (peptides) in the urine.[1][2] Additionally,the majority of affected individuals present with chronic skin ulcers (mainly on the legs and feet), mild to severe intellectual disability and high susceptibility to infections (especially respiratory infections). [1] Affected individuals also present with facial defects such as small jaw (micrognathia), widely spaced eyes (hypertelorism), high arched palate and protruding eyes (exophthalmos).[1][3][2]
Last updated: 3/18/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Prolidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the hip bone 90%
Abnormality of the middle ear 90%
Carious teeth 90%
Cheekbone underdevelopment 90%
Cutaneous photosensitivity 90%
Depressed nasal bridge 90%
Dry skin 90%
Hearing impairment 90%
Palmoplantar keratoderma 90%
Pruritus 90%
Recurrent respiratory infections 90%
Skin ulcer 90%
Thin skin 90%
Abnormal retinal pigmentation 50%
Abnormality of the fingernails 50%
Arachnodactyly 50%
Depressed nasal ridge 50%
Genu valgum 50%
Hypertelorism 50%
Hypertrichosis 50%
Low anterior hairline 50%
Micrognathia 50%
Single transverse palmar crease 50%
Visual impairment 50%
White forelock 50%
Cognitive impairment 7.5%
Hepatomegaly 7.5%
Malar flattening 7.5%
Proptosis 7.5%
Reduced bone mineral density 7.5%
Splenomegaly 7.5%
Urinary bladder inflammation 7.5%
Abnormal facial shape -
Abnormality of metabolism/homeostasis -
Anemia -
Asthma -
Autosomal recessive inheritance -
Chronic lung disease -
Convex nasal ridge -
Crusting erythematous dermatitis -
Diffuse telangiectasia -
Hepatomegaly -
Hypertelorism -
Low posterior hairline -
Petechiae -
Prolonged neonatal jaundice -
Prominent forehead -
Proptosis -
Ptosis -
Recurrent pneumonia -
Short nose -
Splenomegaly -
Systemic lupus erythematosus -
Thrombocytopenia -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. PEPD. Genetics Home Reference. March 7, 2010; http://ghr.nlm.nih.gov/gene=pepd. Accessed 3/8/2010.
  2. Prolidase Deficiency. Online Mendelian Inheritance in Man. June 20, 2006; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170100. Accessed 3/16/2010.
  3. Peter Hechtman. Chapter 82: Prolidase Deficiency. The Online Metabolic & Molecular Bases of Inherited Disease. http://www.ommbid.com/OMMBID/the_online_metabolic_and_molecular_bases_of_inherited_disease/b/abstract/part8/ch82. Accessed 3/8/2010.


Other Names for this Disease
  • Hyperimidodipeptiduria
  • Imidodipeptidase deficiency
  • PD
  • Peptidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.