Menkes Kinky Hair Syndrome [Menkesova choroba]

topical
12
Terms

Menkesova nemoc
Menkesův syndrom
syndrom kinky hair

 

Congenital Hypocupremia
Copper Transport Disease
Hypocupremia, Congenital
Kinky Hair Disease
Kinky Hair Syndrome
Menkea Syndrome
Menkes Disease
Menkes Syndrome
Menkes' Disease
Steely Hair Disease
Steely Hair Syndrome
X-Linked Copper Deficiency

Persistent link   https://www.medvik.cz/link/D007706
Definition

An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)

DUI
D007706 MeSH Browser
CUI
M0012055
Previous indexing
Brain Diseases (1966-1976)
History note
2000(1977)
Public note
2000; see KINKY HAIR SYNDROME 1991-1999; see BRAIN DISEASES, METABOLIC 1977-1990

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis 6
DG
diagnostic imaging 1
DH
diet therapy
DT
drug therapy 2
EC
economics
EM
embryology
EN
enzymology 1
EP
epidemiology
EH
ethnology
ET
etiology 4
GE
genetics 4
HI
history
IM
immunology
ME
metabolism 1
MI
microbiology
MO
mortality 2
NU
nursing
PS
parasitology
PA
pathology 2
PP
physiopathology 2
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 879
C10.228 Central Nervous System Diseases 809
C10.228.140 Brain Diseases 1 179
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 26
C10.228.140.163.100.084 Adrenoleukodystrophy 41
C10.228.140.163.100.168 Cerebral Amyloid Angiopathy, Familial 1
C10.228.140.163.100.320 Galactosemias 44
C10.228.140.163.100.355 Hartnup Disease 2
C10.228.140.163.100.360 Hepatolenticular Degeneration 243
C10.228.140.163.100.362 Hereditary Central Nervous System Demyelinating Diseases 11
C10.228.140.163.100.365 Homocystinuria 108
C10.228.140.163.100.375 Hyperglycinemia, Nonketotic 7
C10.228.140.163.100.380 Hyperlysinemias
C10.228.140.163.100.412 Leigh Disease 26
C10.228.140.163.100.425 Lesch-Nyhan Syndrome 20
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 13
C10.228.140.163.100.520 Maple Syrup Urine Disease 8
C10.228.140.163.100.535 MELAS Syndrome 17
C10.228.140.163.100.540 Menkes Kinky Hair Syndrome 12
C10.228.140.163.100.545 MERRF Syndrome 4
C10.228.140.163.100.593 Mevalonate Kinase Deficiency 16
C10.228.140.163.100.640 Oculocerebrorenal Syndrome 9
C10.228.140.163.100.687 Phenylketonurias 286
C10.228.140.163.100.725 Pyruvate Carboxylase Deficiency Disease
C10.228.140.163.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C10.228.140.163.100.813 Refsum Disease 6
C10.228.140.163.100.844 Refsum Disease, Infantile
C10.228.140.163.100.875 Tyrosinemias 18
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn 7
C10.228.140.163.100.968 Zellweger Syndrome 10
C10.597 Neurologic Manifestations 1 053
C10.597.606 Neurobehavioral Manifestations 208
C10.597.606.360 Intellectual Disability 1 047
C10.597.606.360.455 X-Linked Intellectual Disability 18
C10.597.606.360.455.124 Adrenoleukodystrophy 41
C10.597.606.360.455.249 Coffin-Lowry Syndrome
C10.597.606.360.455.500 Fragile X Syndrome 63
C10.597.606.360.455.562 Glycogen Storage Disease Type IIb 11
C10.597.606.360.455.625 Lesch-Nyhan Syndrome 20
C10.597.606.360.455.687 Menkes Kinky Hair Syndrome 12
C10.597.606.360.455.750 Mucopolysaccharidosis II 25
C10.597.606.360.455.875 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C10.597.606.360.455.937 Rett Syndrome 52
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 214
C16.320.322 Genetic Diseases, X-Linked 60
C16.320.322.500 X-Linked Intellectual Disability 18
C16.320.322.500.124 Adrenoleukodystrophy 41
C16.320.322.500.186 Classical Lissencephalies and Subcortical Band Heterotopias 2
C16.320.322.500.249 Coffin-Lowry Syndrome
C16.320.322.500.500 Fragile X Syndrome 63
C16.320.322.500.625 Lesch-Nyhan Syndrome 20
C16.320.322.500.687 Menkes Kinky Hair Syndrome 12
C16.320.322.500.750 Mucopolysaccharidosis II 25
C16.320.322.500.875 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.322.500.937 Rett Syndrome 52
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.400.525 X-Linked Intellectual Disability 18
C16.320.400.525.124 Adrenoleukodystrophy 41
C16.320.400.525.249 Coffin-Lowry Syndrome
C16.320.400.525.500 Fragile X Syndrome 63
C16.320.400.525.625 Lesch-Nyhan Syndrome 20
C16.320.400.525.687 Menkes Kinky Hair Syndrome 12
C16.320.400.525.750 Mucopolysaccharidosis II 25
C16.320.400.525.875 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.400.525.937 Rett Syndrome 52
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.189.084 Adrenoleukodystrophy 41
C16.320.565.189.168 Cerebral Amyloid Angiopathy, Familial 1
C16.320.565.189.320 Galactosemias 44
C16.320.565.189.355 Hartnup Disease 2
C16.320.565.189.360 Hepatolenticular Degeneration 243
C16.320.565.189.362 Hereditary Central Nervous System Demyelinating Diseases 11
C16.320.565.189.365 Homocystinuria 108
C16.320.565.189.375 Hyperglycinemia, Nonketotic 7
C16.320.565.189.380 Hyperlysinemias
C16.320.565.189.412 Leigh Disease 26
C16.320.565.189.425 Lesch-Nyhan Syndrome 20
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.189.520 Maple Syrup Urine Disease 8
C16.320.565.189.535 MELAS Syndrome 17
C16.320.565.189.540 Menkes Kinky Hair Syndrome 12
C16.320.565.189.545 MERRF Syndrome 4
C16.320.565.189.593 Mevalonate Kinase Deficiency 16
C16.320.565.189.640 Oculocerebrorenal Syndrome 9
C16.320.565.189.687 Phenylketonurias 286
C16.320.565.189.725 Pyruvate Carboxylase Deficiency Disease
C16.320.565.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.565.189.813 Refsum Disease 6
C16.320.565.189.844 Refsum Disease, Infantile
C16.320.565.189.875 Tyrosinemias 18
C16.320.565.189.937 Urea Cycle Disorders, Inborn 7
C16.320.565.189.968 Zellweger Syndrome 10
C16.320.565.618 Metal Metabolism, Inborn Errors 16
C16.320.565.618.337 Hemochromatosis 198
C16.320.565.618.403 Hepatolenticular Degeneration 243
C16.320.565.618.482 Hypophosphatasia 16
C16.320.565.618.544 Hypophosphatemia, Familial 12
C16.320.565.618.590 Menkes Kinky Hair Syndrome 12
C16.320.565.618.711 Paralyses, Familial Periodic 7
C16.320.565.618.815 Pseudohypoparathyroidism 31
C17 Skin and Connective Tissue Diseases 32
C17.800 Skin Diseases 2 800
C17.800.329 Hair Diseases 174
C17.800.329.500 Folliculitis 64
C17.800.329.750 Hirsutism 135
C17.800.329.875 Hypertrichosis 40
C17.800.329.937 Hypotrichosis 7
C17.800.329.968 Menkes Kinky Hair Syndrome 12
C17.800.329.984 Monilethrix 1
C17.800.329.992 Piedra 1
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 197
C18.452.132 Brain Diseases, Metabolic 84
C18.452.132.100 Brain Diseases, Metabolic, Inborn 26
C18.452.132.100.084 Adrenoleukodystrophy 41
C18.452.132.100.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.132.100.320 Galactosemias 44
C18.452.132.100.355 Hartnup Disease 2
C18.452.132.100.360 Hepatolenticular Degeneration 243
C18.452.132.100.362 Hereditary Central Nervous System Demyelinating Diseases 11
C18.452.132.100.365 Homocystinuria 108
C18.452.132.100.375 Hyperglycinemia, Nonketotic 7
C18.452.132.100.380 Hyperlysinemias
C18.452.132.100.412 Leigh Disease 26
C18.452.132.100.425 Lesch-Nyhan Syndrome 20
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.132.100.520 Maple Syrup Urine Disease 8
C18.452.132.100.535 MELAS Syndrome 17
C18.452.132.100.540 Menkes Kinky Hair Syndrome 12
C18.452.132.100.545 MERRF Syndrome 4
C18.452.132.100.593 Mevalonate Kinase Deficiency 16
C18.452.132.100.640 Oculocerebrorenal Syndrome 9
C18.452.132.100.687 Phenylketonurias 286
C18.452.132.100.725 Pyruvate Carboxylase Deficiency Disease
C18.452.132.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.132.100.813 Refsum Disease 6
C18.452.132.100.844 Refsum Disease, Infantile
C18.452.132.100.875 Tyrosinemias 18
C18.452.132.100.937 Urea Cycle Disorders, Inborn 7
C18.452.132.100.968 Zellweger Syndrome 10
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.189.084 Adrenoleukodystrophy 41
C18.452.648.189.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.648.189.320 Galactosemias 44
C18.452.648.189.355 Hartnup Disease 2
C18.452.648.189.360 Hepatolenticular Degeneration 243
C18.452.648.189.362 Hereditary Central Nervous System Demyelinating Diseases 11
C18.452.648.189.365 Homocystinuria 108
C18.452.648.189.375 Hyperglycinemia, Nonketotic 7
C18.452.648.189.380 Hyperlysinemias
C18.452.648.189.412 Leigh Disease 26
C18.452.648.189.425 Lesch-Nyhan Syndrome 20
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.189.520 Maple Syrup Urine Disease 8
C18.452.648.189.535 MELAS Syndrome 17
C18.452.648.189.540 Menkes Kinky Hair Syndrome 12
C18.452.648.189.545 MERRF Syndrome 4
C18.452.648.189.593 Mevalonate Kinase Deficiency 16
C18.452.648.189.640 Oculocerebrorenal Syndrome 9
C18.452.648.189.687 Phenylketonurias 286
C18.452.648.189.725 Pyruvate Carboxylase Deficiency Disease
C18.452.648.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.648.189.813 Refsum Disease 6
C18.452.648.189.844 Refsum Disease, Infantile
C18.452.648.189.875 Tyrosinemias 18
C18.452.648.189.937 Urea Cycle Disorders, Inborn 7
C18.452.648.189.968 Zellweger Syndrome 10
C18.452.648.618 Metal Metabolism, Inborn Errors 16
C18.452.648.618.337 Hemochromatosis 198
C18.452.648.618.403 Hepatolenticular Degeneration 243
C18.452.648.618.482 Hypophosphatasia 16
C18.452.648.618.544 Hypophosphatemia, Familial 12
C18.452.648.618.590 Menkes Kinky Hair Syndrome 12
C18.452.648.618.711 Paralyses, Familial Periodic 7
C18.452.648.618.815 Pseudohypoparathyroidism 31

Hair defect with photosensitivity and mental retardation Disease MeSH Browser

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