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Results 1 - 10 of 26 for Renal hypoplasia
  1. PAX2 gene 
    ... urinary system but without the eye problems of renal coloboma syndrome (described above). The urinary system abnormalities vary in severity and are grouped together as ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  2. SLC4A1 gene 
    ... explains why most people with SLC4A1-associated distal renal tubular acidosis do not have blood cell abnormalities. However, some altered AE1 proteins cannot be helped ...
    https://medlineplus.gov/genetics/gene/slc4a1 - Genetics
  3. HNF1B gene 
    ... maturity-onset diabetes of the young (MODY) called renal cysts and diabetes (RCAD) syndrome (described above). Other features of 17q12 deletion syndrome include abnormalities of the urinary tract and reproductive system, delayed ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
  4. ATP6V1B1 gene 
    ... 1; ATP6V1B1 NCBI Gene ClinVar ... M, Fonda C, Bigozzi M, Genuardi M, Giglio S, Pela I. Inner ear abnormalities in four patients with dRTA and SNHL: clinical ...
    https://medlineplus.gov/genetics/gene/atp6v1b1 - Genetics
  5. ATP6V0A4 gene 
    ... 4; ATP6V0A4 NCBI Gene ClinVar ... M, Fonda C, Bigozzi M, Genuardi M, Giglio S, Pela I. Inner ear abnormalities in four patients with dRTA and SNHL: clinical ...
    https://medlineplus.gov/genetics/gene/atp6v0a4 - Genetics
  6. LRP2 gene 
    ... megalin protein. However, it is unclear how these abnormalities result in the specific signs and symptoms of the disorder.A condition previously classified as a separate disorder called facio-oculo-acoustico-renal (FOAR) syndrome has also been found to be ...
    https://medlineplus.gov/genetics/gene/lrp2 - Genetics
  7. FRAS1 gene 
    ... the kidney and urinary tract (CAKUT). A common abnormality in people with FRAS1 gene mutations is the absence of one of the kidneys (a condition called renal agenesis). The FRAS1 gene mutations involved in CAKUT ...
    https://medlineplus.gov/genetics/gene/fras1 - Genetics
  8. FH gene 
    ... Linehan WM. Mechanisms of disease: hereditary leiomyomatosis and renal cell ... J. Abnormalities in succinylpurines in fumarase deficiency: possible role in ...
    https://medlineplus.gov/genetics/gene/fh - Genetics
  9. SALL4 gene 
    ... those of Duane-radial ray syndrome and acro-renal-ocular syndrome ... caused by abnormalities of the muscles that surround the eyes (extraocular ...
    https://medlineplus.gov/genetics/gene/sall4 - Genetics
  10. EYA1 gene 
    ... same features as BOR syndrome except for kidney (renal) malformations. The two conditions are otherwise so similar ... the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
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