Prolidase Deficiency malady
Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Metabolic diseases categories
Aliases & Descriptions for Prolidase Deficiency:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Cardiovascular diseases, Skin diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy
OMIM:49 Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and... (170100) more...
MalaCards based summary: Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to parkinson disease, late-onset and central nervous system disease, and has symptoms including hearing impairment, abnormality of the middle ear and carious teeth. An important gene associated with Prolidase Deficiency is PEPD (Peptidase D). Affiliated tissues include skin, bone and lung.
Genetics Home Reference:23 Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may also occur. People with prolidase deficiency are susceptible to severe infections of the skin or ears, or potentially life-threatening respiratory tract infections. Some individuals with prolidase deficiency have chronic lung disease.
NIH Rare Diseases:45 Prolidase deficiency is a rare disorder that affects multiple systems due to a defect on an enzyme that is related to the production of collagen (a strong protein found in bones, tissues, and skin). last updated: 3/16/2010
UniProtKB/Swiss-Prot:67 Prolidase deficiency: A multisystem disorder associated with massive iminodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features include skin ulcers, developmental delay, recurrent infections, and a characteristic facies.
Wikipedia:68 Prolidase deficiency (PD) is an autosomal recessive disease that is extremely uncommon and is associated... more...
GeneReviews summary for prolidase-def
Symptoms by clinical synopsis from OMIM:170100
Clinical features from OMIM:170100
Symptoms:51 (show all 40)
HPO human phenotypes related to Prolidase Deficiency:(show all 57)
MalaCards organs/tissues related to Prolidase Deficiency:33
Skin, Bone, Lung, Liver, Spleen, Neutrophil
Articles related to Prolidase Deficiency:(show top 50) (show all 119)
UniProtKB/Swiss-Prot genetic disease variations for Prolidase Deficiency:67
Clinvar genetic disease variations for Prolidase Deficiency:5 (show all 13)
Search GEO for disease gene expression data for Prolidase Deficiency.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet