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Zaki Syndrome
Zaki syndrome is a syndrome characterized by microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, coloboma, and heart defects. It is caused by a homozygous missense mutation in the WLS gene on the short arm of chromosome 1 in humans (1p31.3), which encodes the Wnt ligand secretion mediator, also known as Wntless. The mutation was identified in 10 persons from 5 unrelated families and the syndrome was published for the first time in September 2021 in the New England Journal of Medicine ''The New England Journal of Medicine'' (''NEJM'') is a weekly medical journal published by the Massachusetts Medical Society. It is among the most prestigious peer-reviewed medical journals as well as the oldest continuously published one. His .... Zaki syndrome is named after Maha S. Zaki, a co-author of the publication. References {{reflist Syndromes with microcephaly Syndromes affecting the kidneys Syndromes affecting the eye Syndromes affecting the heart Syndrom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndrome
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Missense Mutation
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. Substitution of protein from DNA mutations Missense mutation refers to a change in one amino acid in a protein, arising from a point mutation in a single nucleotide. Missense mutation is a type of nonsynonymous substitution in a DNA sequence. Two other types of nonsynonymous substitution are the nonsense mutations, in which a codon is changed to a premature stop codon that results in truncation of the resulting protein, and the nonstop mutations, in which a stop codon erasement results in a longer, nonfunctional protein. Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for human diseases such as Epidermolysis bullosa, sickle-cell disease, SOD1 mediated ALS, and a substantial number of cancers. In the most common variant of sickle-cell d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Heart
A syndrome is a set of medical signs and symptoms that are correlated with each other. A syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired ... can affect one or more of body systems. Different syndromes affect different groups of organs. This is a list of syndromes that may affect the heart. ''Syndromes affecting primarily the heart are written in bold letters. '' References External links What Is the Heart?– NIH {{Medicine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Eye
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Kidneys
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes With Microcephaly
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
New England Journal Of Medicine
''The New England Journal of Medicine'' (''NEJM'') is a weekly medical journal published by the Massachusetts Medical Society. It is among the most prestigious peer-reviewed medical journals as well as the oldest continuously published one. History In September 1811, John Collins Warren, a Boston physician, along with James Jackson, submitted a formal prospectus to establish the ''New England Journal of Medicine and Surgery and Collateral Branches of Science'' as a medical and philosophical journal. Subsequently, the first issue of the ''New England Journal of Medicine and Surgery and the Collateral Branches of Medical Science'' was published in January 1812. The journal was published quarterly. In 1823, another publication, the ''Boston Medical Intelligencer'', appeared under the editorship of Jerome V. C. Smith. The editors of the ''New England Journal of Medicine and Surgery and the Collateral Branches of Medical Science'' purchased the weekly ''Intelligencer'' for $600 in 1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GPR177
Protein wntless homolog, commonly known as Wntless, is encoded in humans by the ''WLS'' gene . Wntless is a receptor for Wnt proteins in Wnt-secreting cells. Wntless was shown to be a cargo for the retromer complex. It has been found essential for hair follicle induction. A homozygous missense mutation In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. Substitution of protein from DNA mutations Missense m ... in the ''WLS'' gene was identified in Zaki syndrome. References Further reading * * * * See also * {{G protein-coupled receptors G protein-coupled receptors ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homozygous
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system. If both alleles of a diploid organism are the same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles. While some gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcephaly
Microcephaly (from New Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Since brain growth is correlated with head growth, people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart Defects
A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure. The cause of a congenital heart defect is often unknown. Risk factors include certain infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother. Having a parent with a congenital heart defect is also a risk factor. A number of genetic conditi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coloboma
A coloboma (from the Greek , meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births. The classical description in medical literature is of a keyhole-shaped defect. A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris. The level of vision impairment of those with a coloboma can range from having no vision problems to being able to see only light or dark, depending on the position and extent of the coloboma (or colobomata if more than one is present). Signs and symptoms Visual effects may be mild to more severe depending on the size and location of the coloboma. If, for exam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
