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Prolidase Deficiency
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.
推出的年份: 2010
副标题
blood
cerebrospinal fluid
chemically induced
classification
complications
diagnosis
diagnostic imaging
diet therapy
drug therapy
economics
embryology
enzymology
epidemiology
ethnology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
parasitology
pathology
physiopathology
prevention and control
psychology
radiotherapy
rehabilitation
surgery
therapy
urine
veterinary
virology
树号:
C16.131.077.735, C16.131.831.720, C16.320.565.100.794, C16.320.850.746
MeSH 单一 ID:
D056732
进入的组:
Deficiencies, Prolidase
Deficiency, Prolidase
Prolidase Deficiencies
Imidodipeptidase Deficiency
Deficiencies, Imidodipeptidase
Deficiency, Imidodipeptidase
Imidodipeptidase Deficiencies
Hyperimidodipeptiduria
Hyperimidodipeptidurias
早前的内容:
Dipeptidases (1972-2009)
All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
22q11 Deletion Syndrome [C16.131.077.019]
add_circle
Alagille Syndrome [C16.131.077.065]
Angelman Syndrome [C16.131.077.095]
Barth Syndrome [C16.131.077.121]
Basal Cell Nevus Syndrome [C16.131.077.130]
Beckwith-Wiedemann Syndrome [C16.131.077.133]
Bloom Syndrome [C16.131.077.137]
Branchio-Oto-Renal Syndrome [C16.131.077.208]
Carney Complex [C16.131.077.229]
CHARGE Syndrome [C16.131.077.239]
Ciliopathies [C16.131.077.245]
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Cockayne Syndrome [C16.131.077.250]
Costello Syndrome [C16.131.077.256]
Cri-du-Chat Syndrome [C16.131.077.262]
De Lange Syndrome [C16.131.077.272]
Deaf-Blind Disorders [C16.131.077.299]
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Donohue Syndrome [C16.131.077.313]
Down Syndrome [C16.131.077.327]
Ectodermal Dysplasia [C16.131.077.350]
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Fraser Syndrome [C16.131.077.371]
Gardner Syndrome [C16.131.077.393]
Heterotaxy Syndrome [C16.131.077.401]
Holoprosencephaly [C16.131.077.410]
Incontinentia Pigmenti [C16.131.077.445]
Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477]
Laurence-Moon Syndrome [C16.131.077.509]
LEOPARD Syndrome [C16.131.077.525]
Loeys-Dietz Syndrome [C16.131.077.537]
Marfan Syndrome [C16.131.077.550]
Mobius Syndrome [C16.131.077.578]
Monilethrix [C16.131.077.592]
Nail-Patella Syndrome [C16.131.077.606]
Netherton Syndrome [C16.131.077.619]
Nevus, Sebaceous of Jadassohn [C16.131.077.633]
Oculocerebrorenal Syndrome [C16.131.077.662]
Orofaciodigital Syndromes [C16.131.077.676]
Pallister-Hall Syndrome [C16.131.077.690]
Pentalogy of Cantrell [C16.131.077.696]
POEMS Syndrome [C16.131.077.703]
Polycystic Kidney Diseases [C16.131.077.717]
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Prader-Willi Syndrome [C16.131.077.730]
Prolidase Deficiency [C16.131.077.735]
Proteus Syndrome [C16.131.077.740]
Prune Belly Syndrome [C16.131.077.745]
Rubella Syndrome, Congenital [C16.131.077.790]
Rubinstein-Taybi Syndrome [C16.131.077.804]
Short Rib-Polydactyly Syndrome [C16.131.077.850]
Silver-Russell Syndrome [C16.131.077.855]
Smith-Lemli-Opitz Syndrome [C16.131.077.860]
Smith-Magenis Syndrome [C16.131.077.879]
Sotos Syndrome [C16.131.077.889]
Trichothiodystrophy Syndromes [C16.131.077.899]
Trisomy 13 Syndrome [C16.131.077.919]
Trisomy 18 Syndrome [C16.131.077.929]
Waardenburg Syndrome [C16.131.077.938]
Weill-Marchesani Syndrome [C16.131.077.941]
Wolf-Hirschhorn Syndrome [C16.131.077.944]
Zellweger Syndrome [C16.131.077.970]
All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Skin Abnormalities [C16.131.831]
Acrodermatitis [C16.131.831.066]
Carney Complex [C16.131.831.108]
Dyskeratosis Congenita [C16.131.831.150]
Ectodermal Dysplasia [C16.131.831.350]
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Ehlers-Danlos Syndrome [C16.131.831.428]
Epidermolysis Bullosa [C16.131.831.493]
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Ichthyosis [C16.131.831.512]
add_circle
Incontinentia Pigmenti [C16.131.831.580]
Port-Wine Stain [C16.131.831.675]
Prolidase Deficiency [C16.131.831.720]
Pseudoxanthoma Elasticum [C16.131.831.766]
Rothmund-Thomson Syndrome [C16.131.831.775]
Sclerema Neonatorum [C16.131.831.812]
Trichothiodystrophy Syndromes [C16.131.831.874]
Xeroderma Pigmentosum [C16.131.831.936]
All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
Albinism [C16.320.565.100.102]
add_circle
Alkaptonuria [C16.320.565.100.187]
Hyperglycinemia, Nonketotic [C16.320.565.100.477]
Hyperhomocysteinemia [C16.320.565.100.480]
add_circle
Hyperlysinemias [C16.320.565.100.544]
Maple Syrup Urine Disease [C16.320.565.100.608]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C16.320.565.100.614]
Multiple Carboxylase Deficiency [C16.320.565.100.620]
add_circle
Phenylketonurias [C16.320.565.100.766]
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Prolidase Deficiency [C16.320.565.100.794]
Propionic Acidemia [C16.320.565.100.823]
Tyrosinemias [C16.320.565.100.880]
Urea Cycle Disorders, Inborn [C16.320.565.100.940]
add_circle
All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Skin Diseases, Genetic [C16.320.850]
Albinism [C16.320.850.080]
add_circle
Cutis Laxa [C16.320.850.180]
Darier Disease [C16.320.850.190]
Dermatitis, Atopic [C16.320.850.210]
Dyskeratosis Congenita [C16.320.850.235]
Ectodermal Dysplasia [C16.320.850.250]
add_circle
Ehlers-Danlos Syndrome [C16.320.850.260]
Epidermolysis Bullosa [C16.320.850.275]
add_circle
Erythrokeratodermia Variabilis [C16.320.850.337]
Hyalinosis, Systemic [C16.320.850.368]
Ichthyosiform Erythroderma, Congenital [C16.320.850.400]
add_circle
Ichthyosis Bullosa of Siemens [C16.320.850.402]
Ichthyosis Vulgaris [C16.320.850.405]
Ichthyosis, X-Linked [C16.320.850.408]
Incontinentia Pigmenti [C16.320.850.420]
Keratoderma, Palmoplantar [C16.320.850.475]
add_circle
Leukokeratosis, Hereditary Mucosal [C16.320.850.542]
Lipoid Proteinosis of Urbach and Wiethe [C16.320.850.595]
Monilethrix [C16.320.850.647]
Netherton Syndrome [C16.320.850.673]
Pemphigus, Benign Familial [C16.320.850.700]
Porokeratosis [C16.320.850.730]
Porphyria, Erythropoietic [C16.320.850.738]
Porphyrias, Hepatic [C16.320.850.742]
add_circle
Prolidase Deficiency [C16.320.850.746]
Pseudoxanthoma Elasticum [C16.320.850.750]
Rothmund-Thomson Syndrome [C16.320.850.765]
Sjogren-Larsson Syndrome [C16.320.850.820]
Trichothiodystrophy Syndromes [C16.320.850.895]
Xeroderma Pigmentosum [C16.320.850.970]
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