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  2. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

  3. BRAF (gene) - Wikipedia

    en.wikipedia.org/wiki/BRAF_(gene)

    B-Raf is a 766-amino acid, regulated signal transduction serine/threonine-specific protein kinase.Broadly speaking, it is composed of three conserved domains characteristic of the Raf kinase family: conserved region 1 (CR1), a Ras-GTP-binding [11] self-regulatory domain, conserved region 2 (CR2), a serine-rich hinge region, and conserved region 3 (CR3), a catalytic protein kinase domain that ...

  4. V600E - Wikipedia

    en.wikipedia.org/wiki/V600E

    V600E is a mutation of the BRAF gene in which valine (V) is substituted by glutamic acid (E) at amino acid 600. [1] [2] It is a driver mutation in a proportion of certain diagnoses, including melanoma, [3] [4] hairy cell leukemia, [5] [6] papillary thyroid carcinoma, [7] [8] colorectal cancer, [9] non-small-cell lung cancer, [10] [11] Langerhans cell histiocytosis, [12] Erdheim–Chester ...

  5. Genetic disorder - Wikipedia

    en.wikipedia.org/wiki/Genetic_disorder

    A genetic disorder is a health problem caused by one or more abnormalities in the genome.It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality.

  6. Mental retardation and microcephaly with pontine and ...

    en.wikipedia.org/wiki/Mental_retardation_and...

    MICPCH is diagnosed following an MRI displaying pontocerebellar hypoplasia and positive genetic testing for a pathogenic or likely-pathogenic mutation of the CASK gene. Initial testing tends to occur following a diagnosis of microcephaly in the first year of life. A diagnostic ICD-10 code has been assigned to MICPCH: Q04.3.

  7. RASopathy - Wikipedia

    en.wikipedia.org/wiki/RASopathy

    These syndromes may share some features with RASopathies but are not considered true RASopathies if caused by somatic mutation. [3] Generally, RASopathies increase the risk of developing cancers. [ 1 ] [ 4 ] Neurodevelopmental or psychiatric disorders such as attention deficit hyperactivity disorder , autism spectrum disorder, and anxiety occur ...

  8. 1p36 deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/1p36_deletion_syndrome

    1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.

  9. 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).