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  2. Samoyed hereditary glomerulopathy - Wikipedia

    en.wikipedia.org/wiki/Samoyed_hereditary...

    Samoyed hereditary glomerulopathy (SHG) is a hereditary, X-linked, noninflammatory disease of the renal glomeruli, occurring in the Samoyed breed of dog. The disease has been shown to be a model for Alport syndrome in humans [1] in that the disease resembles that of the human disease. Because of this, it is sometimes referred to by the name ...

  3. X-linked recessive inheritance - Wikipedia

    en.wikipedia.org/wiki/X-linked_recessive_inheritance

    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 always 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).

  4. X-linked intellectual disability - Wikipedia

    en.wikipedia.org/wiki/X-linked_intellectual...

    X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. As with most X-linked disorders, males are more heavily affected than females. [1] Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms.

  5. Hypohidrotic ectodermal dysplasia - Wikipedia

    en.wikipedia.org/wiki/Hypohidrotic_ectodermal...

    Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. [citation needed] In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier.

  6. Coffin–Lowry syndrome - Wikipedia

    en.wikipedia.org/wiki/Coffin–Lowry_syndrome

    Coffin–Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2).Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense mutations, nonsense mutations, insertions and deletions.

  7. ATR-X syndrome - Wikipedia

    en.wikipedia.org/wiki/ATR-X_syndrome

    ATR-X syndrome patients have no deletion in chromosome 16, a-thalassemia is rare, and this syndrome is consistent with X-linked recessive inheritance. [8] However, both groups have similar phenotypes. [9] The phenotypes resulting from ATR-X are due to skewed x-inactivation. [9]

  8. McLeod syndrome - Wikipedia

    en.wikipedia.org/wiki/McLeod_syndrome

    Absence of the XK protein is an X-linked disease. [3] Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis: the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease. As a result, an individual with one relatively small deletion may have both diseases. [4]

  9. Ichthyosis - Wikipedia

    en.wikipedia.org/wiki/Ichthyosis

    Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). [3]