08-31-2009, 02:15 AM
X linked Recessive diseases
Adrenoleukodystrophy which leads to progressive brain damage, failure of the adrenal glands and eventually death.
Alport syndrome which includes glomerulonephritis-renal failure and deafness.
Androgen insensitivity syndrome with receptor resistance to the effect of androgens. The patient is typically a young woman (phenotypically) with XY chromosomes.
Charcot-Marie-Tooth disease which is a hereditary neuropathy.
Duchenne and Becker muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss in ambulation and death.
Fabry disease- a lysosomal storage disease due to deficiency of the enzyme ceraminidase.
Fragile X syndrome resulting from expansion of a single trinucleotide gene sequence (CGG) on the X chromosome. Clinical features include long face, testicular enlargement, Mental retardation.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency.
Hemophilia A and B (Deficiency of factor 8 and 9 respectively). Hemophilia B is also known as Christmas disease.
Hunter's Syndrome which is one of the Mucopolysachharidosis.
Kabuki syndrome with multiple congenital anomalies and mental retardation.
Lesch-Nyhan syndrome is a disorder of purine metabolism with neurologic dysfunction, cognitive and behavioral disturbances including self-mutilation.
Lowe Syndrome- Oculo-cerebro-renal syndrome.
Menkes disease with sparse and coarse hair, growth failure, and neurological symptoms.
Ornithine transcarbamylase deficiency is relatively common disorder of protein metabolism.
Red-Green color blindness, also known as daltonism.
Rett syndrome with acquired microcephaly and small hands and feet. Stereotypic, repetitive hand movements.
Wiskott-Aldrich syndrome is the classic triad of eczema, thrombocytopenia and immune deficiency.
X-linked agammaglobulinemia (XLA) also known as Bruton's disease.
X-linked ichthyosis (fish skin) is a hereditary deficiency of the steroid sulfatase (STS) enzyme.
X-linked Severe Combined Immunodeficiency (SCID); is a severe form of immunodeficiency usually causing death in the first years of life.
Adrenoleukodystrophy which leads to progressive brain damage, failure of the adrenal glands and eventually death.
Alport syndrome which includes glomerulonephritis-renal failure and deafness.
Androgen insensitivity syndrome with receptor resistance to the effect of androgens. The patient is typically a young woman (phenotypically) with XY chromosomes.
Charcot-Marie-Tooth disease which is a hereditary neuropathy.
Duchenne and Becker muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss in ambulation and death.
Fabry disease- a lysosomal storage disease due to deficiency of the enzyme ceraminidase.
Fragile X syndrome resulting from expansion of a single trinucleotide gene sequence (CGG) on the X chromosome. Clinical features include long face, testicular enlargement, Mental retardation.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency.
Hemophilia A and B (Deficiency of factor 8 and 9 respectively). Hemophilia B is also known as Christmas disease.
Hunter's Syndrome which is one of the Mucopolysachharidosis.
Kabuki syndrome with multiple congenital anomalies and mental retardation.
Lesch-Nyhan syndrome is a disorder of purine metabolism with neurologic dysfunction, cognitive and behavioral disturbances including self-mutilation.
Lowe Syndrome- Oculo-cerebro-renal syndrome.
Menkes disease with sparse and coarse hair, growth failure, and neurological symptoms.
Ornithine transcarbamylase deficiency is relatively common disorder of protein metabolism.
Red-Green color blindness, also known as daltonism.
Rett syndrome with acquired microcephaly and small hands and feet. Stereotypic, repetitive hand movements.
Wiskott-Aldrich syndrome is the classic triad of eczema, thrombocytopenia and immune deficiency.
X-linked agammaglobulinemia (XLA) also known as Bruton's disease.
X-linked ichthyosis (fish skin) is a hereditary deficiency of the steroid sulfatase (STS) enzyme.
X-linked Severe Combined Immunodeficiency (SCID); is a severe form of immunodeficiency usually causing death in the first years of life.