Details of Disease

General Information of Disease (ID: DIS7WSWQ)

• Disease Name: Autosomal recessive pseudohypoaldosteronism type 1
• Synonyms: generalized pseudohypoaldosteronism type 1; pseudohypoaldosteronism type 1 autosomal recessive; pseudohypoaldosteronism type 1, recessive; PHA I, autosomal recessive; pseudohypoaldosteronism, type I, autosomal recessive; generalised PHA1; generalised pseudohypoaldosteronism type 1; generalized PHA1; autosomal recessive PHA 1; PHA1B; autosomal recessive pseudohypoaldosteronism type 1
• Definition: Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.
• Disease Hierarchy:
  DIS90D1E: Pseudohypoaldosteronism type 1
  DIS7WSWQ: Autosomal recessive pseudohypoaldosteronism type 1
• Disease Identifiers:
  MONDO ID: MONDO_0009917
  UMLS CUI: C5774176
  OMIM ID: 264350
  MedGen ID: 1823950
  Orphanet ID: 171876

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCNN1B	OT61QQTL	Strong	Autosomal recessive	[1]
SCNN1G	OTSJYQVQ	Strong	Autosomal recessive	[2]
SCNN1A	OTE2KVZV	Definitive	Autosomal recessive	[3]

References

• [1] Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med. 1999 Jul 15;341(3):156-62. doi: 10.1056/NEJM199907153410304.
• [2] Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 2001 Jan;86(1):9-12. doi: 10.1210/jcem.86.1.7116.
• [3] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.