Prolidase Deficiency [nedostatek prolidázy]

topical
Terms

deficience prolidasy
deficience prolidázy
deficit prolidasy
deficit prolidázy
hyperimidodipeptidurie
prolidasa - deficit
prolidasa - nedostatek

 

Hyperimidodipeptiduria
Imidodipeptidase Deficiency

Persistent link   https://www.medvik.cz/link/D056732
Definition

Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.

DUI
D056732 MeSH Browser
CUI
M0528902
Previous indexing
Dipeptidases (1972-2009)
History note
2010
Public note
2010

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 741
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 33
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 20
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 8
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 35
C16.131.077.717 Polycystic Kidney Diseases 82
C16.131.077.730 Prader-Willi Syndrome 92
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.131.831 Skin Abnormalities 51
C16.131.831.066 Acrodermatitis 66
C16.131.831.108 Carney Complex 8
C16.131.831.150 Dyskeratosis Congenita 9
C16.131.831.350 Ectodermal Dysplasia 33
C16.131.831.428 Ehlers-Danlos Syndrome 51
C16.131.831.493 Epidermolysis Bullosa 108
C16.131.831.512 Ichthyosis 62
C16.131.831.580 Incontinentia Pigmenti 19
C16.131.831.675 Port-Wine Stain 5
C16.131.831.720 Prolidase Deficiency
C16.131.831.766 Pseudoxanthoma Elasticum 13
C16.131.831.775 Rothmund-Thomson Syndrome 7
C16.131.831.812 Sclerema Neonatorum 2
C16.131.831.874 Trichothiodystrophy Syndromes 1
C16.131.831.936 Xeroderma Pigmentosum 25
C16.320 Genetic Diseases, Inborn 1 213
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124
C16.320.565.100.102 Albinism 17
C16.320.565.100.187 Alkaptonuria 76
C16.320.565.100.477 Hyperglycinemia, Nonketotic 7
C16.320.565.100.480 Hyperhomocysteinemia 212
C16.320.565.100.544 Hyperlysinemias
C16.320.565.100.608 Maple Syrup Urine Disease 8
C16.320.565.100.614 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 2
C16.320.565.100.620 Multiple Carboxylase Deficiency
C16.320.565.100.766 Phenylketonurias 285
C16.320.565.100.794 Prolidase Deficiency
C16.320.565.100.823 Propionic Acidemia 3
C16.320.565.100.880 Tyrosinemias 18
C16.320.565.100.940 Urea Cycle Disorders, Inborn 7
C16.320.850 Skin Diseases, Genetic 89
C16.320.850.080 Albinism 17
C16.320.850.180 Cutis Laxa 10
C16.320.850.190 Darier Disease 26
C16.320.850.210 Dermatitis, Atopic 1 445
C16.320.850.235 Dyskeratosis Congenita 9
C16.320.850.250 Ectodermal Dysplasia 33
C16.320.850.260 Ehlers-Danlos Syndrome 51
C16.320.850.275 Epidermolysis Bullosa 108
C16.320.850.337 Erythrokeratodermia Variabilis 1
C16.320.850.368 Hyaline Fibromatosis Syndrome 1
C16.320.850.400 Ichthyosiform Erythroderma, Congenital 8
C16.320.850.402 Ichthyosis Bullosa of Siemens 3
C16.320.850.405 Ichthyosis Vulgaris 5
C16.320.850.408 Ichthyosis, X-Linked 9
C16.320.850.420 Incontinentia Pigmenti 19
C16.320.850.475 Keratoderma, Palmoplantar 15
C16.320.850.542 Leukokeratosis, Hereditary Mucosal 1
C16.320.850.595 Lipoid Proteinosis of Urbach and Wiethe 5
C16.320.850.647 Monilethrix 1
C16.320.850.673 Netherton Syndrome 2
C16.320.850.700 Pemphigus, Benign Familial 11
C16.320.850.730 Porokeratosis 11
C16.320.850.738 Porphyria, Erythropoietic 11
C16.320.850.742 Porphyrias, Hepatic 26
C16.320.850.746 Prolidase Deficiency
C16.320.850.750 Pseudoxanthoma Elasticum 13
C16.320.850.765 Rothmund-Thomson Syndrome 7
C16.320.850.820 Sjogren-Larsson Syndrome 4
C16.320.850.895 Trichothiodystrophy Syndromes 1
C16.320.850.970 Xeroderma Pigmentosum 25

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