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Results 1 - 10 of 12 for Adrenal hypoplasia
  1. NR0B1 gene 
    ... gene have been found to cause X-linked adrenal hypoplasia congenita. This condition affects the development of the ... Most of the variants responsible for X-linked adrenal hypoplasia congenita prevent the NR0B1 gene from producing any ...
    https://medlineplus.gov/genetics/gene/nr0b1 - Genetics
  2. CDKN1C gene 
    ... This Health Condition Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies, commonly known by the ...
    https://medlineplus.gov/genetics/gene/cdkn1c - Genetics
  3. NR5A1 gene 
    ... and reproductive organs. Affected individuals may also have abnormalities of the adrenal glands, which may cause hormone deficiencies, resulting in ...
    https://medlineplus.gov/genetics/gene/nr5a1 - Genetics
  4. CYP11B1 gene 
    ... form these hormones instead build up in the adrenal gland and are converted to androgens. The excess production of androgens leads to abnormalities of sexual development in people with CAH due ...
    https://medlineplus.gov/genetics/gene/cyp11b1 - Genetics
  5. CYP21A2 gene 
    ... form these hormones instead build up in the adrenal glands and are converted to androgens, which are male sex hormones. The excess production of androgens leads to abnormalities of sexual development in people with 21-hydroxylase ...
    https://medlineplus.gov/genetics/gene/cyp21a2 - Genetics
  6. CACNA1D gene 
    ... a condition called primary aldosteronism, seizures, and neurological abnormalities (PASNA). As in aldosterone-producing adenomas, the increased flow of calcium in adrenal gland cells increases aldosterone production, causing primary aldosteronism. ...
    https://medlineplus.gov/genetics/gene/cacna1d - Genetics
  7. HSD3B2 gene 
    ... females and testes in males, and in the adrenal glands, which are located on top of the ... type II HSD3B HSDB Tests of HSD3B2 PubMed ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE ...
    https://medlineplus.gov/genetics/gene/hsd3b2 - Genetics
  8. GNAS gene 
    ... thyroid, pituitary gland, ovaries and testes (gonads), and adrenal glands. Adenylate cyclase is also believed to play ... have been identified in people with primary macronodular adrenal hyperplasia (PMAH), a disorder that causes multiple lumps ( ...
    https://medlineplus.gov/genetics/gene/gnas - Genetics
  9. WNT4 gene 
    ... SERKAL (SEx Reversal and abnormal development of Kidneys, Adrenals, and Lungs) syndrome. In this condition, male sex ... 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL NCBI Gene ClinVar Bernard P, ...
    https://medlineplus.gov/genetics/gene/wnt4 - Genetics
  10. CYP11B2 gene 
    ... corticosterone methyloxidase). This enzyme is found in the adrenal glands, which are located on top of the ... Rainey WE, Auchus RJ. Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertension. Appl Clin ...
    https://medlineplus.gov/genetics/gene/cyp11b2 - Genetics
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