Isolated Mineralocorticoid Deficiency

mutations in DAX1

Also Known As:

Mineralocorticoid Deficiency, Isolated

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Urogenital Diseases: 129
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Urogenital Abnormalities: 77
    - Disorders of Sex Development: 740
      - Adrenogenital Syndrome: 274
        Congenital Adrenal Hyperplasia: 2895
        Isolated Mineralocorticoid Deficiency: 5
- Inborn Genetic Diseases: 12342
  - Congenital Adrenal Hyperplasia: 2895
    - Isolated Mineralocorticoid Deficiency: 5
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Steroid Metabolism: 2
      - Congenital Adrenal Hyperplasia: 2895
        Isolated Mineralocorticoid Deficiency: 5
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Steroid Metabolism: 2
      - Congenital Adrenal Hyperplasia: 2895
        Isolated Mineralocorticoid Deficiency: 5
Endocrine System Diseases: 996
- Gonadal Disorders: 30
  - Hypogonadism: 6346
    - Isolated Mineralocorticoid Deficiency: 5
  - Disorders of Sex Development: 740
    - Adrenogenital Syndrome: 274
      - Congenital Adrenal Hyperplasia: 2895
        Isolated Mineralocorticoid Deficiency: 5
- Adrenal Gland Diseases: 25
  - Congenital Adrenal Hyperplasia: 2895
    - Isolated Mineralocorticoid Deficiency: 5

Related Diseases

1.	Psychogenic Polydipsia
2.	Nephrogenic Diabetes Insipidus
3.	Hypothyroidism
4.	Heart Failure
5.	Fibrosis (Cirrhosis)

Experts

1.	Aeberli, Daniel: 1 article (01/2023)
2.	Clevers, Hans: 1 article (01/2023)
3.	Flück, Christa E: 1 article (01/2023)
4.	Lucas, Cécily: 1 article (01/2023)
5.	Mallet, Delphine: 1 article (01/2023)
6.	Morel, Yves: 1 article (01/2023)
7.	Olabe, Julie: 1 article (01/2023)
8.	Pandey, Amit V: 1 article (01/2023)
9.	Plotton, Ingrid: 1 article (01/2023)
10.	Roucher-Boulez, Florence: 1 article (01/2023)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Isolated Mineralocorticoid Deficiency:

1.	Cytochrome P-450 CYP11B2 (CYP11B2)IBA 01/01/2022 - "Aldosterone synthase deficiency (ASD) caused by mutations in the CYP11B2 gene is characterized by isolated mineralocorticoid deficiency. " 02/15/2009 - "[Molecular genetic verification of isolated mineralocorticoid deficiency due to aldosterone synthase deficiency]."
2.	SaltsIBA 02/15/2009 - "Isolated mineralocorticoid deficiency is a rare hereditary autosomal recessive disorder that is characterized by salt wasting and that has the severest manifestations in infants. " 01/01/2023 - "Disorders of isolated mineralocorticoid deficiency, which cause potentially life-threatening salt-wasting crisis early in life, have been associated with gene variants of aldosterone biosynthesis or resistance; however, in some patients no such variants are found. " 02/15/2009 - "In both cases, the patients were monitored and treated for misdiagnosed congenital adrenal hyperplasia; however, the permanently low level of 17-hydroxyprogesterone could put in doubt the diagnosis and suspect isolated mineralocorticoid deficiency, by keeping in mind a history of salt wasting. "
3.	Aquaporins (Water Channels)IBA 09/01/2007 - "This review discusses the renal aquaporin water channels in the urinary dilution and concentrating defects in cardiac failure, cirrhosis, syndrome of inappropriate hormone secretion, pregnancy, hypothyroidism, isolated glucocorticoid deficiency, isolated mineralocorticoid deficiency, primary polydipsia, acquired and genetic nephrogenic diabetes insipidus."
4.	17-alpha-Hydroxyprogesterone (17 Hydroxyprogesterone)IBA 02/15/2009 - "In both cases, the patients were monitored and treated for misdiagnosed congenital adrenal hyperplasia; however, the permanently low level of 17-hydroxyprogesterone could put in doubt the diagnosis and suspect isolated mineralocorticoid deficiency, by keeping in mind a history of salt wasting. "
5.	Hydrocortisone (Cortisol)FDA LinkGeneric 06/01/2007 - "Further investigations strongly suggested the presence of isolated mineralocorticoid deficiency with normal cortisol levels. "
6.	Hormones (Hormone)IBA 09/01/2007 - "This review discusses the renal aquaporin water channels in the urinary dilution and concentrating defects in cardiac failure, cirrhosis, syndrome of inappropriate hormone secretion, pregnancy, hypothyroidism, isolated glucocorticoid deficiency, isolated mineralocorticoid deficiency, primary polydipsia, acquired and genetic nephrogenic diabetes insipidus."
7.	GlucocorticoidsIBA 09/01/2007 - "This review discusses the renal aquaporin water channels in the urinary dilution and concentrating defects in cardiac failure, cirrhosis, syndrome of inappropriate hormone secretion, pregnancy, hypothyroidism, isolated glucocorticoid deficiency, isolated mineralocorticoid deficiency, primary polydipsia, acquired and genetic nephrogenic diabetes insipidus."
8.	AldosteroneIBA 01/01/2023 - "Disorders of isolated mineralocorticoid deficiency, which cause potentially life-threatening salt-wasting crisis early in life, have been associated with gene variants of aldosterone biosynthesis or resistance; however, in some patients no such variants are found. "