Prolidase deficiency

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.



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Narrow down the case reports



Total: 25 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(40.9%)		 874681
 Prolidase deficiency: report of a second case with quantitation of the excessively excreted amino acids.
Powell GF, Kurosky A, Maniscalco RM.
J Pediatr. 1977;91(2):242-6.
Sinusitis
PEPD
Amino Acids Child, Preschool Dermatitis Females Homo sapiens Leukocytes Otitis Media Peptide Hydrolases Renal Aminoacidurias Sinusitis Splenomegaly
2
(33.7%)		 25101509
 Prolidase deficiency: dento-facial aspects in a paediatric patient.
Lacarbonara M, Cazzolla AP, Lacarbonara VA, Di Venere D, Capogreco M, Marzo G.
Eur J Paediatr Dent. 2014;15(2 Suppl):224-8.
Splenomegaly Long upper lip
Cephalometry Child Face Homo sapiens Male Panoramic Radiography Tooth Abnormalities
3
(27.8%)		 26349190
 INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION.
Kuloglu Z, Kansu A, Serwas N, Demir A, Yaman A, Ensari A, Boztug K.
Genet Couns. 2015;26(2):205-11.
Pruritus Aphthous ulcer
PEPD
Child, Preschool Females Homo sapiens Inflammatory Bowel Diseases Phenotype
4
(21.2%)		 17459310
 Ulcus cruris associated with prolidase deficiency.
Kavala M, Zindanci I, Sudogan S, Turkoglu Z, Sarigul S.
Dermatol Online J. 2006;12(7):24.
Joint dislocation
PEPD
Adult Dipeptidases Females Homo sapiens Leg Ulcer Red Blood Cell Transfusion Wound Healing
5
(17.5%)		 18855790
 Prolidase deficiency: the use of topical proline for treatment of leg ulcers.
Dunn R, Dolianitis C.
Australas J Dermatol. 2008;49(4):237-8.
Cellulitis
PEPD
Administration, Topical Adult Cellulitis Dipeptidases Homo sapiens Leg Ulcer Male
5
(17.5%)		 11116849
 [Hereditary prolidase deficiency. Contribution to differential therapy refractory leg ulcer diagnosis].
Kasten R, Steinmann B, Voigtlander V.
Hautarzt. 2000;51(11):846-51.
Neoplasm Panniculitis
PEPD
Adult Chromosome Aberrations Differential Diagnosis Dipeptidases Females Genes, Recessive Homo sapiens Leg Ulcer
5
(17.5%)		 8919529
 Topical treatment of skin ulcers in prolidase deficiency.
Jemec GB, Moe AT.
Pediatr Dermatol. 1996;13(1):58-60.
Scarring
PEPD
Administration, Topical Dipeptidases Females Homo sapiens Ointments Skin Ulcer
5
(17.5%)		 7187192
 [Prolidase and manganese deficiency. Apropos of a case: diagnosis and treatment].
Larreque M, Charpentier C, Laidet B, Lambert M, Bressieux JM, Prigent F, Canuel C, Tanzer J.
Ann Dermatol Venereol. 1982;109(8):667-78.
Edema Scarring
PEPD
Adult Amino Acids Dipeptidases Females Homo sapiens Inborn Errors of Metabolism Leg Ulcer
9
(4.0%)		 28718266
 A Case Of 13-Year-Old Girl With Prolidase Deficiency.
Khushdil A, Murtaza F.
J Ayub Med Coll Abbottabad. 2017;29(2):355-357.
Skin ulcer
PEPD
Administration, Topical Dipeptidases Females Glucocorticoids Homo sapiens Plasmapheresis
9
(4.0%)		 27132891
 Pulmonary manifestations of prolidase deficiency.
Nir V, Ilivitky A, Hakim F, Yoseph RB, Gur M, Mandel H, Bentur L.
Pediatr Pulmonol. 2016;51(11):1229-1233.
Respiratory insufficiency
PEPD
Adult Bronchiectasis Differential Diagnosis Females Homo sapiens Male Middle Aged Respiratory Insufficiency Retrospective Studies X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 39

HPO ID Term Frequency
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000370 Abnormality of the middle ear Very frequent (99-80%)
HP:0000670 Carious teeth Very frequent (99-80%)
HP:0000958 Dry skin Very frequent (99-80%)
HP:0000962 Hyperkeratosis Very frequent (99-80%)
HP:0000963 Thin skin Very frequent (99-80%)
HP:0000982 Palmoplantar keratoderma Very frequent (99-80%)
HP:0000989 Pruritus Very frequent (99-80%)
HP:0000992 Cutaneous photosensitivity Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002205 Recurrent respiratory infections Very frequent (99-80%)
HP:0002715 Abnormality of the immune system Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0007473 Crusting erythematous dermatitis Very frequent (99-80%)
HP:0008065 Aplasia/Hypoplasia of the skin Very frequent (99-80%)
HP:0010783 Erythema Very frequent (99-80%)
HP:0200034 Papule Very frequent (99-80%)
HP:0200042 Skin ulcer Very frequent (99-80%)
HP:0000294 Low anterior hairline Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000457 Depressed nasal ridge Frequent (79-30%)
HP:0000505 Visual impairment Frequent (79-30%)
HP:0001007 Hirsutism Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001231 Abnormal fingernail morphology Frequent (79-30%)
HP:0002211 White forelock Frequent (79-30%)
HP:0002230 Generalized hirsutism Frequent (79-30%)
HP:0002857 Genu valgum Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0007703 Abnormality of retinal pigmentation Frequent (79-30%)
HP:0000520 Proptosis Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001744 Splenomegaly Occasional (29-5%)
HP:0002240 Hepatomegaly Occasional (29-5%)
HP:0004349 Reduced bone mineral density Occasional (29-5%)
HP:0010669 Hypoplasia of the zygomatic bone Occasional (29-5%)
HP:0012786 Recurrent cystitis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 14

HPO ID Term # of case reports
HP:0200042 Skin ulcer 5
HP:0001744 Splenomegaly 3
HP:0002719 Recurrent infections 3
HP:0031035 Chronic infection 3
HP:0000969 Edema 2
HP:0004322 Short stature 2
HP:0100699 Scarring 2
HP:0000545 Myopia 1
HP:0001058 Poor wound healing 1
HP:0001249 Intellectual disability 1
HP:0001373 Joint dislocation 1
HP:0011947 Respiratory tract infection 1
HP:0031364 Ecchymosis 1
HP:0100658 Cellulitis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PEPD peptidase D 5184