Pseudohypoaldosteronism Type 2
What's New
Last Posted: May 11, 2023
- A mild and transient form of autosomal recessive Pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation in the SCNN1A gene.
Alexandra Eythymiadou, et al. American journal of physiology. Endocrinology and metabolism 2023 0 - A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1.
Huneif Mohammed Ayed, et al. Journal of clinical research in pediatric endocrinology 2021 0 (2) 244-250 - A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population.
Mendes Ana Isabel, et al. Molecular genetics and metabolism 2011 4 (4) 465-9 - Autosomal dominant pseudohypoaldosteronism type 1
From NCATS Genetic and Rare Diseases Information Center - Autosomal recessive pseudohypoaldosteronism type 1
From NCATS Genetic and Rare Diseases Information Center - Pseudohypoaldosteronism type 2
From NCATS Genetic and Rare Diseases Information Center - Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.
Balsamo Antonio, et al. European journal of endocrinology / European Federation of Endocrine Societies 2007 2 (2) 249-56 - Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population.
Kokubo Yoshihiro, et al. Journal of human genetics 2004 0 (9) 507-15 - Genetic variants of WNK4 in whites and African Americans with hypertension.
Erlich Porat M, et al. Hypertension 2003 6 (6) 1191-5 - Association of a sodium channel alpha subunit promoter variant with blood pressure.
Iwai Naoharu, et al. Journal of the American Society of Nephrology : JASN 2002 1 (1) 80-5
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: