PD
MCID: PRL019
MIFTS: 44

Prolidase Deficiency (PD) malady

Cardiovascular diseases, Skin diseases, Metabolic diseases categories

Summaries for Prolidase Deficiency

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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.

MalaCards: Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to vasculitis and cystic fibrosis, and has symptoms including depressed premaxillary region/midface, hirsutism/hypertrichosis/increased body hair and genu valgum. An important gene associated with Prolidase Deficiency is PEPD (peptidase D). The compounds prednisolone and hematoxylin have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver.

NIH Rare Diseases:42 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

Wikipedia:63 Prolidase deficiency (PD) is an autosomal recessive disease that is extremely uncommon and is associated... more...

Description from OMIM:46 170100

Aliases & Classifications for Prolidase Deficiency

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Cardiovascular diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
hyperimidodipeptiduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

prolidase deficiency 42 21 46 48
hyperimidodipeptiduria 42 21 48 60
imidodipeptidase deficiency 42 21
peptidase deficiency 42 21
pd 42 21
parkinson disease, late-onset 60
deficiency of prolidase 60


External Ids:

OMIM46 170100
MESH via Orphanet35 D056732
ICD10 via Orphanet26 E72.8
SNOMED-CT via Orphanet57 360994007, 361010007, 410055005
UMLS via Orphanet61 C0268532, C1534653

Related Diseases for Prolidase Deficiency

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Prolidase Deficiency:



Diseases related to prolidase deficiency

Clinical Features for Prolidase Deficiency

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

170100

Clinical synopsis from OMIM:

170100

Symptoms:

48 (show all 40)
  • depressed premaxillary region/midface
  • hirsutism/hypertrichosis/increased body hair
  • genu valgum
  • simian crease/transverse/unique palmar crease
  • long hand/arachnodactyly
  • flattened nose
  • visual loss/blindness/amblyopia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • white forelock/piebaldism
  • thin/hypoplastic/hyperconvex fingernails
  • proptosis/exophthalmos
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • bladder inflammation/cystitis/painful/irritable bladder
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • retinitis pigmentosa/retinal pigmentary changes
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hypertelorism
  • palmoplantar hyperkeratosis/keratoderma
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • skin hypoplasia/aplasia/atrophy
  • hearing loss/hypoacusia/deafness
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • anomalies of ear and hearing
  • multiple caries
  • depressed nasal bridge
  • flat cheek bones/malar hypoplasia
  • dry/squaly skin/exfoliation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • low hair line-front
  • autosomal recessive inheritance
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • repeat respiratory infections
  • thin skin
  • pruritus/itching
  • follicular/erythematous/edematous papules/milium
  • skin photosensitivity
  • facial dysmorphism

Drugs & Therapeutics for Prolidase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Prolidase Deficiency

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Anatomical Context for Prolidase Deficiency

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Sources:
32MalaCards
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MalaCards organs/tissues related to Prolidase Deficiency:

32
Skin, Bone, Liver, Lung, Spleen

Animal Models for Prolidase Deficiency or affiliated genes

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Publications for Prolidase Deficiency

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Genetic Variations for Prolidase Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Prolidase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1PEPDp.Asp276AsnVAR_004404
2PEPDp.Gly448ArgVAR_004405
3PEPDp.Arg184GlnVAR_011614
4PEPDp.Gly278AspVAR_011615

Expression for genes affiliated with Prolidase Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Prolidase Deficiency

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Pathways for genes affiliated with Prolidase Deficiency

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Compounds for genes affiliated with Prolidase Deficiency

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Prolidase Deficiency according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1prednisolone44 28 1111.6PEPD, SLC17A5
2hematoxylin449.4ELN, SLC17A5
3betacarotene449.4ELN, SLC17A5
4procollagen449.4SLC17A5, ELN
5polyethylene glycol449.4ELN, SLC17A5
6glutamine449.3PEPD, SLC17A5
7dmso449.3ELN, SLC17A5
8nacl449.3ELN, SLC17A5
9valine449.2PEPD, ELN
10methionine449.2SLC17A5, PEPD
11n acetylcysteine449.2ELN, SLC17A5
12manganese44 2410.1PEPD, ELN
13ascorbic acid44 2410.1ELN, SLC17A5
14hydroxyproline44 11 2410.8ELN, PEPD, SLC17A5
15hyaluronic acid44 249.8SLC17A5, PEPD, ELN
16fibrinogen448.8ELN, SLC17A5
17proline448.8ELN, PEPD, SLC17A5
18creatinine448.8SLC17A5, PEPD, ELN
19glutamate448.8SLC17A5, PEPD, ELN
20alanine448.8ELN, PEPD, SLC17A5

GO Terms for genes affiliated with Prolidase Deficiency

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Products for genes affiliated with Prolidase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Prolidase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet