Prolidase Deficiency malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Metabolic diseases
Aliases & Descriptions for Prolidase Deficiency:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada); Age of onset: Adult,Childhood,Infancy,Neonatal; Age of death: any age
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Skin diseases
OMIM:50 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 pendred syndrome, 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, liver and spleen.
Genetics Home Reference:24 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:46 Prolidase deficiency is a rare metabolic condition characterized by skin lesions, recurrent infections, unusual facial features, variable intellectual disability, enlargement of the liver (hepatomegaly) with elevated liver enzymes, and enlargement of the spleen (splenomegaly). symptoms typically present during infancy and vary greatly among affected individuals. the condition is caused by mutations in the pepd gene. it is inherited in an autosomal recessive pattern. treatment for prolidase deficiency is symptomatic and supportive and often requires the expertise of a multidisciplinary team. last updated: 3/25/2016
UniProtKB/Swiss-Prot:68 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:69 Prolidase deficiency (PD) is an autosomal recessive disease that is extremely uncommon and is associated... more...
GeneReviews summary for NBK299584
Symptoms by clinical synopsis from OMIM:170100
Clinical features from OMIM:170100
Symptoms:52 (show all 39)
HPO human phenotypes related to Prolidase Deficiency:(show all 56)
UMLS symptoms related to Prolidase Deficiency:hepatomegaly
MalaCards organs/tissues related to Prolidase Deficiency:34
Skin, Liver, Spleen, Bone, Lung, Neutrophil
Articles related to Prolidase Deficiency:(show top 50) (show all 124)
UniProtKB/Swiss-Prot genetic disease variations for Prolidase Deficiency:68
Clinvar genetic disease variations for Prolidase Deficiency:5 (show all 13)
Search GEO for disease gene expression data for Prolidase Deficiency.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet