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Results 1 - 10 of 14 for Abnormality of fluid regulation
  1. ITPR1 gene 
    ... called the endoplasmic reticulum into the surrounding cell fluid (the cytoplasm). Proper ... involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems ...
    https://medlineplus.gov/genetics/gene/itpr1 - Genetics
  2. HNF1B gene 
    ... diabetes, people with RCAD typically also have kidney abnormalities (primarily fluid-filled sacs called cysts). Affected individuals may also have abnormalities of the pancreas, liver, or genital tract; or ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
  3. Gillespie syndrome 
    ... called the endoplasmic reticulum into the surrounding cell fluid (the cytoplasm). Proper regulation of calcium ion concentration inside cells is important ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  4. Bohring-Opitz syndrome 
    ... brain abnormalities can occur with or without head abnormalities. For example, the fluid-filled spaces near the center of the brain ( ...
    https://medlineplus.gov/genetics/condition/bohring-opitz-syndrome - Genetics
  5. Lamellar ichthyosis 
    ... layer of the skin (the epidermis). The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation of body temperature, water retention, and resistance to ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  6. CDKN1B gene 
    ... controlling cell division, its activity is tightly regulated. Regulation can occur ... in the fluid that surrounds the nucleus (the cytoplasm) instead of ...
    https://medlineplus.gov/genetics/gene/cdkn1b - Genetics
  7. Chromosome 14 
    ... of these genes may interfere with proper control (regulation) of cell growth and ... syndrome is caused by a chromosomal abnormality known as a ring chromosome 14 or r( ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
  8. Hartsfield syndrome 
    ... People with Hartsfield syndrome often have other brain abnormalities associated ... between fluid intake and urine excretion; a shortage (deficiency) of ...
    https://medlineplus.gov/genetics/condition/hartsfield-syndrome - Genetics
  9. CYP11B1 gene 
    ... CYP11B1 gene. These changes in the gene's regulation and structure diminish ... leads to abnormalities of sexual development in people with CAH due ...
    https://medlineplus.gov/genetics/gene/cyp11b1 - Genetics
  10. FLNA gene 
    ... another. Impaired adhesion alters cells that line the fluid-filled cavities near the center of the brain ( ... role of its first repeats in small-GTPase regulation. Biochim Biophys Acta. 2014 Feb;1843(2):234- ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
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