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n/a Ensembl ENSG00000205413 n/a UniProt Q5K651 n/a RefSeq (mRNA) NM_017654 NM_001193307 n/a RefSeq (protein) NP_001180236 NP_060124 n/a Location (UCSC) Chr 7: 93.1 – 93.12 Mb n/a PubMed search n/a Wikidata View/Edit Human Sterile alpha motif domain-containing protein 9 is a 1,589- amino-acid protein encoded by the SAMD9 gene. This cytoplasmic protein is a tumor suppressor that has a role in ...
Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, [2] progressive, [3] recessive genetic disorder of the autonomic nervous system [2] that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system.
Familial hypercholesterolemia: 19 P Haemochromatosis type 1: 6 P ... 7-12:100,000 Turner syndrome: X: monosomy 1:2,000-2,500 live female births Usher syndrome:
GATA2 deficiency is a grouping of several disorders caused by common defect, namely, familial or sporadic inactivating mutations in one of the two parental GATA2 genes.Being the gene haploinsufficient, mutations that cause a reduction in the cellular levels of the gene's product, GATA2, are autosomal dominant.
Genetic risk factors include: Down syndrome, Fanconi anemia, familial monosomy 7, Shwachman–Diamond syndrome, Bloom Syndrome, as well as mutations in specific gene mutations. [ 3 ] [ 39 ] Besides genetic risk factors, exposure to ionizing radiation is a known risk factor for childhood leukemia.
The following conditions are caused by changes in the structure or number of copies of chromosome 7: Williams syndrome is caused by the deletion of genetic material from a portion of the long (q) arm of chromosome 7. The deleted region, which is located at position 11.23 (written as 7q11.23), is designated as the Williams syndrome critical region.
Juvenile myelomonocytic leukemia (JMML) is a rare form of chronic leukemia (cancer of the blood) that affects children, commonly those aged four and younger. [2] The name JMML now encompasses all diagnoses formerly referred to as juvenile chronic myeloid leukemia (JCML), chronic myelomonocytic leukemia of infancy, and infantile monosomy 7 syndrome.
The second, combined with a normal gamete from the other parent, gives rise to a typical child. The third leads to a translocation Down syndrome child. The last becomes a translocation carrier, like the parent. Translocation Down syndrome is often referred to as familial Down syndrome. It is the cause of about 4.5% of the observed Down ...