Prolidase Deficiency malady
Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Metabolic diseases, Fetal diseases
Aliases & Descriptions for Prolidase Deficiency:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Cardiovascular diseases, Skin diseases
Rare circulatory system diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
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 pendred syndrome, and has symptoms including skin ulcer, hypoplasia of the zygomatic bone and depressed nasal bridge. An important gene associated with Prolidase Deficiency is PEPD (Peptidase D). Affiliated tissues include skin, liver and spleen.
NIH Rare Diseases:45 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: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.
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.
Wikipedia:68 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:51 (show all 40)
HPO human phenotypes related to Prolidase Deficiency:(show all 56)
MalaCards organs/tissues related to Prolidase Deficiency:33
Skin, Liver, Spleen, Bone, Lung, Prostate, Pituitary
Articles related to Prolidase Deficiency:(show top 50) (show all 120)
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