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Diseases

Genetic and Rare Diseases Information Center (GARD)

Prolidase deficiency


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

Symptoms

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What are the signs and symptoms of Prolidase deficiency?

Prolidase deficiency can cause a wide variety of symptoms. In most cases, symptoms first present during infancy.[1] Affected individuals may have an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly) with elevated liver enzymes, or an enlarged liver and spleen (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may also occur. People with prolidase deficiency are susceptible to skin lesions on their hands, feet, lower legs and face. The severity of the skin involvement may range from a mild rash to severe skin ulcers that are difficult to treat. Recurrent infections of the respiratory tract can also occur. Characteristic facial features in people with prolidase deficiency include prominent eyes that are widely spaced (hypertelorism), a high forehead, a flat bridge of the nose, and a very small lower jaw and chin (micrognathia). Some children may experience delayed development and intellectual disability.[1][2] Laboratory tests may show a high level of imidodipeptides (a type of protein) in the urine, anemia, thrombocytopenia, hypergammaglobulinemia (high levels of antibodies in the blood), and hypocomplementemia (abnormally low complement levels in the blood).[1][2][3] Some people with prolidase deficiency do not have any symptoms. In these individuals, the condition can be detected through newborn screening or testing following the diagnosis in a relative.[1] An association between prolidase deficiency and systemic lupus erythematous has been reported.[2] 
Last updated: 3/25/2016

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)
Abnormal facial shape 90%
Abnormality of the hip bone 90%
Abnormality of the middle ear 90%
Carious teeth 90%
Cutaneous photosensitivity 90%
Depressed nasal bridge 90%
Dry skin 90%
Hearing impairment 90%
Hypoplasia of the zygomatic bone 90%
Palmoplantar keratoderma 90%
Pruritus 90%
Recurrent respiratory infections 90%
Skin ulcer 90%
Thin skin 90%
Abnormality of 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%
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%
Abnormality of metabolism/homeostasis -
Anemia -
Asthma -
Autosomal recessive inheritance -
Chronic lung disease -
Convex nasal ridge -
Crusting erythematous dermatitis -
Diffuse telangiectasia -
Low posterior hairline -
Petechiae -
Prolonged neonatal jaundice -
Prominent forehead -
Ptosis -
Recurrent pneumonia -
Short nose -
Systemic lupus erythematosus -
Thrombocytopenia -

Last updated: 4/1/2016

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. Prolidase deficiency. Genetics Home Reference (GHR). February 2012; https://ghr.nlm.nih.gov/condition/prolidase-deficiency.
  2. Ferreira C, Wang H. Prolidase Deficiency. GeneReviews. June 25, 2015; http://www.ncbi.nlm.nih.gov/books/NBK299584/.
  3. Jaeken J. Prolidase deficiency. Orphanet. July 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742.


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