Genetic Diseases, X-Linked [genetické nemoci vázané na chromozom X]

topical
59
Terms

genetické nemoci vázané na chromozóm X

 

Genetic Diseases, X-Chromosome Linked
X-Linked Genetic Diseases

Persistent link   https://www.medvik.cz/link/D040181
Definition

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.

DUI
D040181 MeSH Browser
CUI
M0420489
Previous indexing
Genetic Diseases, Inborn (1966-2002); Linkage (Genetics) (1984-2002); specific disease/Genetics (1984-2002)
History note
2003
Public note
2003

C Diseases
C01 Infections 2 026
C04 Neoplasms 12 774
C11 Eye Diseases 1 489
C16.320.051 Alagille Syndrome 19
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
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
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 1
C16.320.322.030 Aicardi Syndrome
C16.320.322.068 Barth Syndrome 6
C16.320.322.092 Choroideremia 3
C16.320.322.100 Dent Disease 1
C16.320.322.108 Dyskeratosis Congenita 9
C16.320.322.124 Fabry Disease 187
C16.320.322.186 Focal Dermal Hypoplasia 6
C16.320.322.235 Hemophilia B 214
C16.320.322.241 Ichthyosis, X-Linked 9
C16.320.322.562 Muscular Dystrophy, Duchenne 133
C16.320.322.937 Wiskott-Aldrich Syndrome 20
C16.320.365 Hemoglobinopathies 68
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.540 Marfan Syndrome 105
C16.320.577 Muscular Dystrophies 140
C16.320.728 Osteochondrodysplasias 123
C16.320.784 Pelger-Huet Anomaly 7
C16.320.812 Pycnodysostosis 2
C16.320.925 Werner Syndrome 14

Aarskog Syndrome Disease MeSH Browser

Abruzzo Erickson syndrome Disease MeSH Browser

Achromatopsia incomplete, X-linked Disease MeSH Browser

Adrenal Hypoplasia, Congenital, with Precocious Puberty Disease MeSH Browser

Agammaglobulinemia, X-linked, type 2 Disease MeSH Browser

Aland Island Eye Disease Disease MeSH Browser

Alpha-Thalassemia Myelodysplasia Syndrome Disease MeSH Browser

Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Disease MeSH Browser

Alzheimer Disease 16 Disease MeSH Browser

Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency Disease MeSH Browser

Anemia, X-Linked, without Thrombocytopenia Disease MeSH Browser

Anemia, sideroblastic spinocerebellar ataxia Disease MeSH Browser

Anencephaly and spina bifida X-linked Disease MeSH Browser

Aneurysm, Intracranial Berry, 5 Disease MeSH Browser

Angioma serpiginosum, X-linked Disease MeSH Browser

Arthrogryposis multiplex congenita, distal, X-linked Disease MeSH Browser

Arthrogryposis, X-Linked, Type V Disease MeSH Browser

Arts syndrome Disease MeSH Browser

Atypical Mycobacteriosis, Familial, X-Linked 2 Disease MeSH Browser

Bornholm Eye Disease Disease MeSH Browser

Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia Disease MeSH Browser

Branchial arch syndrome X-linked Disease MeSH Browser

Brunner Syndrome Disease MeSH Browser

Bruton type agammaglobulinemia Disease MeSH Browser

Bullous Dystrophy, Hereditary Macular Type Disease MeSH Browser

Cardiac valvular dysplasia, X-linked Disease MeSH Browser

Cardiomyopathy, Dilated, 3A Disease MeSH Browser

Cataract, congenital, with microcornea or slight microphthalmia Disease MeSH Browser

Chromosome Xp11.23-P11.22 Duplication Syndrome Disease MeSH Browser

Chromosome Xq28 Duplication Syndrome Disease MeSH Browser

Cleft Palate with Ankyloglossia Disease MeSH Browser

Cleft palate X-linked Disease MeSH Browser

Cone Dystrophy, X-Linked, 1 Disease MeSH Browser

Cone dystrophy, x-linked, with tapetal-like sheen Disease MeSH Browser

Cone-Rod Dystrophy, X-Linked, 2 Disease MeSH Browser

Cone-Rod Dystrophy, X-Linked, 3 Disease MeSH Browser

Cone-Rod Dystrophy, X-Linked, Type 1 Disease MeSH Browser

Congenital Heart Defects, X-Linked Disease MeSH Browser

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Disease MeSH Browser

Congenital alopecia X-linked Disease MeSH Browser

Congenital idiopathic intestinal pseudoobstruction Disease MeSH Browser

Corpus Callosum, Partial Agenesis of, X-Linked Disease MeSH Browser

Craniofacioskeletal Syndrome Disease MeSH Browser

Deafness, High-Frequency Sensorineural, X-Linked Disease MeSH Browser

Deafness, X-Linked 1 Disease MeSH Browser

Deafness, X-Linked 3 Disease MeSH Browser

Deafness, X-Linked 4 Disease MeSH Browser

Deafness, X-Linked 5 Disease MeSH Browser

Dent Disease 2 Disease MeSH Browser

Dent disease 1 Disease MeSH Browser

Dyserythropoietic Anemia with Thrombocytopenia Disease MeSH Browser

Dystonia 3, Torsion, X-Linked Disease MeSH Browser

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Disease MeSH Browser

Ectodermal dysplasia, hypohidrotic, with immune deficiency Disease MeSH Browser

Ehlers-Danlos syndrome type 5 Disease MeSH Browser

Epidermodysplasia Verruciformis, X-Linked Disease MeSH Browser

Epilepsy, Female-Restricted, with Mental Retardation Disease MeSH Browser

Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Disease MeSH Browser

Episodic Muscle Weakness, X-Linked Disease MeSH Browser

Exudative Vitreoretinopathy, Familial, X-Linked Recessive Disease MeSH Browser

Fetal akinesia syndrome, X-linked Disease MeSH Browser

Fg Syndrome 5 Disease MeSH Browser

Glycogen Storage Disease, Type IXA2 Disease MeSH Browser

Glycogen Storage Disease, Type IXD Disease MeSH Browser

Heterotaxy, visceral, X-linked Disease MeSH Browser

Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia Disease MeSH Browser

Heterotopia, Periventricular, Ehlers-Danlos Variant Disease MeSH Browser

Hodgkin disease, X-linked pseudoautosomal Disease MeSH Browser

Hydrocephalus With Cerebellar Agenesis Disease MeSH Browser

Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction Disease MeSH Browser

Hydrocephalus, X-linked Disease MeSH Browser

Hyperekplexia and Epilepsy Disease MeSH Browser

Hypertrichosis congenital generalized X-linked Disease MeSH Browser

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Disease MeSH Browser

Hypogammaglobulinemia, X-Linked Disease MeSH Browser

Hypoparathyroidism, X-Linked Disease MeSH Browser

Hypospadias 1, X-Linked Disease MeSH Browser

Hypospadias 2, X-Linked Disease MeSH Browser

Ichthyosis, X-Linked, Complicated Disease MeSH Browser

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Disease MeSH Browser

Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein Disease MeSH Browser

Joubert Syndrome 10 Disease MeSH Browser

Keratosis Follicularis Spinulosa Decalvans, X-Linked Disease MeSH Browser

Leigh Syndrome, X-Linked Disease MeSH Browser

Liver Glycogenosis, X-Linked, Type II Disease MeSH Browser

Lymphoproliferative Syndrome, X-Linked, 2 Disease MeSH Browser

MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome Disease MeSH Browser

Macrothrombocytopenia, X-Linked Disease MeSH Browser

Macular Dystrophy, X-Linked Disease MeSH Browser

Major Affective Disorder 2 Disease MeSH Browser

Martin-Probst Deafness-Mental Retardation Syndrome Disease MeSH Browser

Megalocornea Disease MeSH Browser

Membranoproliferative Glomerulonephritis, X-Linked Disease MeSH Browser

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Disease MeSH Browser

Mental Retardation, X-Linked, Syndromic 12 Disease MeSH Browser

Mental Retardation, X-Linked, Syndromic, Christianson Type Disease MeSH Browser

Mental Retardation, X-Linked, Syndromic, Turner Type Disease MeSH Browser

Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related Disease MeSH Browser

Mental Retardation, X-Linked, With Panhypopituitarism Disease MeSH Browser

Mental Retardation, X-Linked, Znf711-Related Disease MeSH Browser

Microphthalmia, Isolated, with Coloboma 1 Disease MeSH Browser

Microphthalmia, syndromic 7 Disease MeSH Browser

Midline Defects, X-Linked Disease MeSH Browser

Modifier, X-Linked, for Neurofunctional Defects Disease MeSH Browser

Multiple Pterygium Syndrome, X-Linked Disease MeSH Browser

Muscular Dystrophy, Progressive Pectorodorsal Disease MeSH Browser

Myopathy, Reducing Body, X-Linked, Childhood-Onset Disease MeSH Browser

Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Disease MeSH Browser

Myopathy, X-Linked, with Excessive Autophagy Disease MeSH Browser

Myopia 1 Disease MeSH Browser

Myopia 13 Disease MeSH Browser

NEMO mutation with immunodeficiency Disease MeSH Browser

Nance-Horan syndrome Disease MeSH Browser

Nasodigitoacoustic syndrome Disease MeSH Browser

Nephrogenic Syndrome of Inappropriate Antidiuresis Disease MeSH Browser

Nephrolithiasis, X-Linked Recessive, with Renal Failure Disease MeSH Browser

Neural tube defects X-linked Disease MeSH Browser

Neuropathy, Hereditary Sensory, X-Linked Disease MeSH Browser

Neutropenia, Severe Congenital, X-Linked Disease MeSH Browser

Night blindness, congenital stationary Disease MeSH Browser

Norrie disease Disease MeSH Browser

Nystagmus 5, Infantile Periodic Alternating Disease MeSH Browser

Ophthalmoplegia, External, and Myopia Disease MeSH Browser

Opitz GBBB Syndrome, X-Linked Disease MeSH Browser

Optic atrophy, X-linked Disease MeSH Browser

Ovarian Dysgenesis 2 Disease MeSH Browser

Panhypopituitarism X-linked Disease MeSH Browser

Parathyroid Glands, Agenesis Of Disease MeSH Browser

Parkinson Disease 12 Disease MeSH Browser

Parkinsonism, early onset with mental retardation Disease MeSH Browser

Phosphoglycerate Kinase 1 Deficiency Disease MeSH Browser

Pigmentary Disorder, Reticulate, with Systemic Manifestations Disease MeSH Browser

Premature Ovarian Failure 2a Disease MeSH Browser

Progressive hearing loss stapes fixation Disease MeSH Browser

Properdin Deficiency, Type II Disease MeSH Browser

Properdin Deficiency, Type III Disease MeSH Browser

Properdin deficiency, X-linked Disease MeSH Browser

Prostate Cancer, Hereditary, X-Linked 2 Disease MeSH Browser

Protoporphyria, Erythropoietic, X-Linked Dominant Disease MeSH Browser

Proud Syndrome Disease MeSH Browser

Ptosis, Hereditary Congenital 2 Disease MeSH Browser

Radial Ray Deficiency, X-Linked Disease MeSH Browser

Radiation Sensitivity of Natural Killer Activity Disease MeSH Browser

Radius absent anogenital anomalies Disease MeSH Browser

Reticuloendotheliosis, X-linked Disease MeSH Browser

Retinitis Pigmentosa 3 Disease MeSH Browser

Retinitis Pigmentosa 34 Disease MeSH Browser

Retinitis Pigmentosa 6 Disease MeSH Browser

Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Disease MeSH Browser

Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Disease MeSH Browser

Russell-Silver Syndrome, X-Linked Disease MeSH Browser

Short Stature, Idiopathic, X-Linked Disease MeSH Browser

Simpson-Golabi-Behmel Syndrome, Type 2 Disease MeSH Browser

Simpson-Golabi-Behmel syndrome Disease MeSH Browser

Skeletal dysplasia coarse facies mental retardation Disease MeSH Browser

Spastic Paraplegia 34, X-Linked Disease MeSH Browser

Spastic paraplegia 16, X-linked Disease MeSH Browser

Spastic paraplegia 2, X-linked Disease MeSH Browser

Spina Bifida, X-Linked Disease MeSH Browser

Spinal Muscular Atrophy, Distal, X-Linked 3 Disease MeSH Browser

Spinocerebellar Ataxia, X-Linked 1 Disease MeSH Browser

Spinocerebellar Ataxia, X-Linked 5 Disease MeSH Browser

Spinocerebellar ataxia, X-linked, 3 Disease MeSH Browser

Split-Hand Foot Malformation 2 Disease MeSH Browser

Spondyloepimetaphyseal Dysplasia, X-Linked Disease MeSH Browser

Spondylometaphyseal Dysplasia, X-Linked Disease MeSH Browser

Surfactant Metabolism Dysfunction, Pulmonary, 4 Disease MeSH Browser

Terminal Osseous Dysplasia and Pigmentary Defects Disease MeSH Browser

Testicular Germ Cell Tumor 1 Disease MeSH Browser

Thrombocytopenia 1 Disease MeSH Browser

Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis Disease MeSH Browser

Thrombocytopenia, X-Linked, Intermittent Disease MeSH Browser

Thrombocytosis, Familial X-Linked Disease MeSH Browser

Thrombophilia, X-Linked, Due To Factor Ix Defect Disease MeSH Browser

Thyroxine-Binding Globulin Deficiency Disease MeSH Browser

Tooth Agenesis, Selective, X-Linked, 1 Disease MeSH Browser

Torticollis keloids cryptorchidism renal dysplasia Disease MeSH Browser

VACTERL Association With Hydrocephalus Disease MeSH Browser

Vasquez Hurst Sotos syndrome Disease MeSH Browser

Vesicoureteral Reflux, X-Linked Disease MeSH Browser

Von Willebrand Disease, X-Linked Form Disease MeSH Browser

Wells Jankovic syndrome Disease MeSH Browser

Wieacker syndrome Disease MeSH Browser

X Inactivation, Familial Skewed, 1 Disease MeSH Browser

X Inactivation, Familial Skewed, 2 Disease MeSH Browser

X-Linked Chondrodysplasia Punctata 1 Disease MeSH Browser

X-Linked Infantile Nystagmus Disease MeSH Browser

X-linked sideroblastic anemia Disease MeSH Browser

X-linked tetra-amelia Disease MeSH Browser