X-linked recessive disorders

2017-07-29T02:38:26+03:00[Europe/Moscow] en true Haemophilia B, Menkes disease, X-linked ichthyosis, Color blindness, X-linked recessive inheritance, Haemophilia A, X-linked agammaglobulinemia, Oculocerebrorenal syndrome, Wiskott–Aldrich syndrome, Androgen insensitivity syndrome, Fabry disease, Renpenning's syndrome, Creatine transporter defect, XMEN disease, Becker's muscular dystrophy, Ornithine transcarbamylase deficiency, Smith–Fineman–Myers syndrome, Endocardial fibroelastosis, X-linked intellectual disability, X-linked spinal muscular atrophy type 2, Duchenne muscular dystrophy, Ocular albinism, Occipital horn syndrome, Norrie disease, Ocular albinism type 1, Adrenoleukodystrophy, Hoyeraal-Hreidarsson syndrome, Nasodigitoacoustic syndrome, McLeod syndrome, Pelizaeus–Merzbacher disease, FG syndrome, MASA syndrome, Simpson–Golabi–Behmel syndrome flashcards X-linked recessive disorders
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  • Haemophilia B
    Haemophilia B (or hemophilia B) is a blood clotting disorder caused by a mutation of the factor IX gene, leading to a deficiency of factor IX.
  • Menkes disease
    Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder that affects copper levels in the body, leading to copper deficiency.
  • X-linked ichthyosis
    X-linked ichthyosis (XLI) (also known as "Steroid sulfatase deficiency," and "X-linked recessive ichthyosis") (from the Ancient Greek 'ichthys' meaning 'fish') is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males.
  • Color blindness
    Color blindness, also known as color vision deficiency, is the decreased ability to see color or differences in color.
  • X-linked recessive inheritance
    X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
  • Haemophilia A
    Haemophilia A is a genetic deficiency in clotting factor VIII, which causes increased bleeding and usually affects males.
  • X-linked agammaglobulinemia
    X-linked agammaglobulinemia (also called X-linked hypogammaglobulinemia, XLA, Bruton type agammaglobulinemia, Bruton syndrome, or Sex-linked agammaglobulinemia) is a rare X-linked genetic disorder discovered in 1952 that affects the body's ability to fight infection.
  • Oculocerebrorenal syndrome
    Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia, intellectual disability, proximal tubular acidosis, aminoaciduria, phosphaturia, and low-molecular-weight proteinuria.
  • Wiskott–Aldrich syndrome
    Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia).
  • Androgen insensitivity syndrome
    Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens.
  • Fabry disease
    Fabry disease (/ˈfɑːbri/) (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency) is a rare genetic lysosomal storage disease, inherited in an X-linked manner.
  • Renpenning's syndrome
    Renpenning's syndrome is a neurodevelopmental disorder recognised in males that causes intellectual disability, mild growth retardation with examples in the testes and head, and a somewhat short stature.
  • Creatine transporter defect
    Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective transport of creatine into the brain.
  • XMEN disease
    XMEN disease is a rare genetic disorder of the immune system that illustrates the role of Mg2+ in cell signaling.
  • Becker's muscular dystrophy
    Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis.
  • Ornithine transcarbamylase deficiency
    Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans.
  • Smith–Fineman–Myers syndrome
    Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), is a rare X-linked recessive congenital disorder that causes birth defects.
  • Endocardial fibroelastosis
    Endocardial Fibroelastosis (EFE) is a rare heart disorder usually occurring in children two years old and younger.
  • X-linked intellectual disability
    X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of intellectual disability which are specifically associated with X-linked recessive inheritance.
  • X-linked spinal muscular atrophy type 2
    X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy).
  • Duchenne muscular dystrophy
    Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy.
  • Ocular albinism
    Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.
  • Occipital horn syndrome
    Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked recessive connective tissue disorder.
  • Norrie disease
    Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness.
  • Ocular albinism type 1
    Ocular albinism type 1 (OA1), also called Nettleship–Falls syndrome, is the most common type of ocular albinism, with a prevalence rate of 1:50,000.
  • Adrenoleukodystrophy
    Adrenoleukodystrophy (/-ˌlu-koʊ-ˈdis-trə-fiː/; also known as X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease or bronze Schilder disease) is a disease that is linked on the X chromosome.
  • Hoyeraal-Hreidarsson syndrome
    Hoyeraal-Hreidarsson syndrome (HHS) is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita.
  • Nasodigitoacoustic syndrome
    Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.
  • McLeod syndrome
    McLeod syndrome (or McLeod phenomenon; /məˈklaʊd/) is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart.
  • Pelizaeus–Merzbacher disease
    Pelizaeus–Merzbacher disease (PMD) is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.
  • FG syndrome
    FG syndrome (FGS; also known as Opitz–Kaveggia syndrome) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays.
  • MASA syndrome
    MASA syndrome, also called CRASH syndrome and Gareis-Mason syndrome, is a rare X-linked recessive neurological disorder.
  • Simpson–Golabi–Behmel syndrome
    Simpson–Golabi–Behmel syndrome (SGBS), also called Bulldog syndrome, Sara Agers syndrome, Golabi–Rosen syndrome, Simpson dysmorphia syndrome (SDYS) or X-linked dysplasia gigantism syndrome (DGSX), is a rare inherited congenital disorder that can cause craniofacial, skeletal, cardiac, and renal abnormalities.