Pycnodysostosis [pyknodysostóza]

topical
2
Terms

Pyknodysostosis

Persistent link   https://www.medvik.cz/link/D058631
Definition

Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.

DUI
D058631 MeSH Browser
CUI
M0530711
Previous indexing
Dysostoses (1966-2010)
History note
2011
Public note
2011

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 0
DI
diagnosis 2
DG
diagnostic imaging 0
DH
diet therapy 0
DT
drug therapy 0
EC
economics 0
EM
embryology 0
EN
enzymology 0
EP
epidemiology 0
EH
ethnology 0
ET
etiology 2
GE
genetics 2
HI
history 0
IM
immunology 0
ME
metabolism 0
MI
microbiology 0
MO
mortality 0
NU
nursing 0
PS
parasitology 0
PA
pathology 0
PP
physiopathology 0
PC
prevention & control 0
PX
psychology 0
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 0
TH
therapy 0
UR
urine 0
VE
veterinary 0
VI
virology 0

C Diseases
C05 Musculoskeletal Diseases 1 119
C05.116 Bone Diseases 792
C05.116.099 Bone Diseases, Developmental 291
C05.116.099.708 Osteochondrodysplasias 123
C05.116.099.708.017 Achondroplasia 71
C05.116.099.708.025 Acquired Hyperostosis Syndrome 21
C05.116.099.708.180 Camurati-Engelmann Syndrome 6
C05.116.099.708.195 Chondrodysplasia Punctata 6
C05.116.099.708.207 Cleidocranial Dysplasia 7
C05.116.099.708.327 Ellis-Van Creveld Syndrome 11
C05.116.099.708.338 Enchondromatosis 12
C05.116.099.708.375 Fibrous Dysplasia of Bone 47
C05.116.099.708.479 Hyperostosis, Cortical, Congenital 13
C05.116.099.708.486 Hyperostosis Frontalis Interna 3
C05.116.099.708.534 Kashin-Beck Disease
C05.116.099.708.582 Langer-Giedion Syndrome 7
C05.116.099.708.670 Osteochondroma 16
C05.116.099.708.685 Osteogenesis Imperfecta 106
C05.116.099.708.702 Osteosclerosis 38
C05.116.099.708.779 Pycnodysostosis 2
C05.116.099.708.857 Short Rib-Polydactyly Syndrome 3
C05.116.099.708.928 Slipped Capital Femoral Epiphyses 16
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.033 Adrenal Hyperplasia, Congenital 225
C16.320.051 Alagille Syndrome 19
C16.320.060 alpha 1-Antitrypsin Deficiency 83
C16.320.070 Anemia, Hemolytic, Congenital 48
C16.320.077 Anemia, Hypoplastic, Congenital 3
C16.320.080 Ataxia Telangiectasia 47
C16.320.089 Autoimmune Lymphoproliferative Syndrome 2
C16.320.099 Blood Coagulation Disorders, Inherited 61
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.144 Camurati-Engelmann Syndrome 6
C16.320.160 Cardiomyopathy, Hypertrophic, Familial 32
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 259
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 328
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 97
C16.320.290 Eye Diseases, Hereditary 57
C16.320.298 Familial Multiple Lipomatosis
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 1
C16.320.322 Genetic Diseases, X-Linked 59
C16.320.338 Genetic Diseases, Y-Linked 1
C16.320.355 Hajdu-Cheney Syndrome 6
C16.320.365 Hemoglobinopathies 68
C16.320.382 Hereditary Autoinflammatory Diseases 46
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.413 Hyper-IgM Immunodeficiency Syndrome 4
C16.320.427 Hyperthyroxinemia, Familial Dysalbuminemic 1
C16.320.447 Imprinting Disorders
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.495 Lennox Gastaut Syndrome 5
C16.320.510 Loeys-Dietz Syndrome 7
C16.320.540 Marfan Syndrome 105
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.595.100 Aspartylglucosaminuria
C16.320.565.595.201 Cholesterol Ester Storage Disease 13
C16.320.565.595.377 Cystinosis 16
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.595.577 Mannosidase Deficiency Diseases 1
C16.320.565.595.600 Mucopolysaccharidoses 81
C16.320.565.595.800 Pycnodysostosis 2
C16.320.577 Muscular Dystrophies 140
C16.320.590 Myasthenic Syndromes, Congenital 20
C16.320.600 Nail-Patella Syndrome 8
C16.320.700 Neoplastic Syndromes, Hereditary 143
C16.320.709 Oculocerebrorenal Syndrome 9
C16.320.714 Orofaciodigital Syndromes 7
C16.320.718 Osteoarthropathy, Primary Hypertrophic 127
C16.320.728 Osteochondrodysplasias 123
C16.320.737 Osteogenesis Imperfecta 106
C16.320.775 Pain Insensitivity, Congenital 10
C16.320.784 Pelger-Huet Anomaly 7
C16.320.798 Primary Immunodeficiency Diseases 45
C16.320.812 Pycnodysostosis 2
C16.320.831 Renal Tubular Transport, Inborn Errors 36
C16.320.850 Skin Diseases, Genetic 89
C16.320.925 Werner Syndrome 14
C16.320.962 Yellow Nail Syndrome
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.595.100 Aspartylglucosaminuria
C18.452.648.595.201 Cholesterol Ester Storage Disease 13
C18.452.648.595.377 Cystinosis 16
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.595.577 Mannosidase Deficiency Diseases 1
C18.452.648.595.600 Mucopolysaccharidoses 81
C18.452.648.595.800 Pycnodysostosis 2

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