Pseudohypoaldosteronism Type I malady

MedlinePlus: Electrolytes are minerals in your body that have an electric charge. they are in your blood, urine and body fluids. maintaining the right balance of electrolytes helps your body's blood chemistry, muscle action and other processes. sodium, calcium, potassium, chlorine, phosphate and magnesium are all electrolytes. you get them from the foods you eat and the fluids you drink. levels of electrolytes in your body can become too low or too high. that can happen when the amount of water in your body changes, causing dehydration or overhydration. causes include some medicines, vomiting, diarrhea, sweating or kidney problems. problems most often occur with levels of sodium, potassium or calcium.²³

MalaCards: Pseudohypoaldosteronism Type I, also known as pseudohypoaldosteronism, type i, is related to autosomal dominant pseudohypoaldosteronism type 1 and pseudohypoaldosteronism. An important gene associated with Pseudohypoaldosteronism Type I is NR3C2 (nuclear receptor subfamily 3, group C, member 2), and among its related pathways are NO-dependent CFTR activation (normal and CF) and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). The compounds thiazide and Aldosterone have been mentioned in the context of this disorder. Affiliated tissues include colon and kidney, and related mouse phenotypes are respiratory system and renal/urinary system.

Genetics Home Reference: Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the sweat glands and colon. Pseudohypoaldosteronism type 1 is named for its characteristic signs and symptoms, which mimic (pseudo) low levels (hypo) of a hormone called aldosterone that helps regulate sodium levels. However, people with PHA1 have high levels of aldosterone.¹⁷

OMIM: 264350

pseudohypoaldosteronism type i 7 pseudohypoaldosteronism, type i 33 43 fluid and electrolyte balance 17 23 pseudohypoaldosteronism, type i, autosomal recessive 43

pseudohypoaldosteronism type 1 17 pseudohypoaldosteronism 43 pha1 17

Disease types for pseudohypoaldosteronism family:

pseudohypoaldosteronism type i	pseudohypoaldosteronism type ii
pseudohypoaldosteronism type iib	pseudohypoaldosteronism type iic
pseudohypoaldosteronism type iid	pseudohypoaldosteronism type iie

Diseases related to pseudohypoaldosteronism type i by text searches and GeneDecks gene sharing:

(show top 50)    (show all 94)

id	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant pseudohypoaldosteronism type 1	31.8	NR3C2, SCNN1G
2	pseudohypoaldosteronism	28.1	SGK1, EPHA3, NR3C2, SCNN1G, SCNN1B, SCNN1A
3	essential hypertension	28.0	NR3C2, SCNN1G, SCNN1B, SCNN1A, SGK1
4	breast cancer	27.9	SGK1, NR3C2, EPHA3
5	liddle syndrome	26.1	NR3C2, SCNN1G, SCNN1B, SCNN1A
6	colorectal cancer	25.5	EPHA3, NR3C2, SCNN1G, SCNN1B, CLDN8
7	aldosteronism	25.5	EPHA3, NR3C2, SCNN1G, SCNN1B, SCNN1A, SGK1
8	neuronitis	24.2	SGK1, SCNN1A, SCNN1B, SCNN1G, NR3C2, EPHA3
9	hypertension	24.1	EPHA3, NR3C2, SCNN1G, SCNN1B, SCNN1A, SGK1
10	hyperaldosteronism	12.8	NR3C2, SCNN1G
11	renal tubular acidosis	12.7	NR3C2, SCNN1G
12	delayed puberty	12.6	SCNN1A, SCNN1B
13	ciliary dyskinesia	12.4	SCNN1A, SCNN1B, SCNN1G
14	bronchiectasis	12.3	SCNN1A, SCNN1B, SCNN1G
15	common variable immunodeficiency	12.3	SCNN1G, SCNN1B, SCNN1A
16	congestive heart failure	12.2	SGK1, NR3C2
17	atherosclerosis	11.8	SCNN1A, SCNN1B, SCNN1G, NR3C2
18	cystic fibrosis	11.4	SCNN1G, SCNN1B, SCNN1A, SGK1
19	fibrosis	10.7	EPHA3, NR3C2, SCNN1G, SCNN1B, SCNN1A, SGK1
20	pseudohypoaldosteronism type ii	9.3
21	leukemia	8.0
22	carcinoma	7.7
23	hepatitis	7.5
24	endocrine diseases	7.5
25	pseudohypoaldosteronism type iic	7.5
26	pseudohypoaldosteronism type iib	7.2
27	hypoxia	6.9
28	myeloid leukemia	6.9
29	autosomal recessive pseudohypoaldosteronism type 1	6.8
30	chronic myeloid leukemia	6.6
31	soft tissue sarcoma	6.6
32	sarcoma	6.6
33	pseudohypoaldosteronism type iid	6.3
34	pseudohypoaldosteronism type iie	6.3
35	hepatitis c	6.3
36	hepatitis b	6.3
37	hepatocellular carcinoma	6.3
38	pelger-huet anomaly	6.3
39	prostatitis	6.3
40	melanoma	5.7
41	neuroblastoma	5.7
42	obesity	5.7
43	pancreatitis	5.7
44	renal cell carcinoma	5.7
45	thyroiditis	5.7
46	blindness	5.7
47	colon cancer	5.7
48	glioblastoma	5.7
49	gastroenteritis	5.4
50	hearing loss	5.4

Clinical features from OMIM: 264350

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to pseudohypoaldosteronism type i:

²²

MGI Mouse Phenotypes related to pseudohypoaldosteronism type i:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	8.6	SCNN1A, SCNN1G, EPHA3, SCNN1B
2	renal/urinary system phenotype	MP:0005367	7.8	NR3C2, SCNN1G, SCNN1B, SCNN1A, SGK1
3	homeostasis/metabolism phenotype	MP:0005376	7.1	SGK1, EPHA3, NR3C2, SCNN1G, SCNN1B, SCNN1A

Articles related to pseudohypoaldosteronism type i:

id	Title	Authors	Year	Affiliating Genes
1	Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families. (17317952)	Riepe F.G.... Holterhus P.M.	2007	SGK1, SCNN1A, EPHA3
2	A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). (14715854)	Nystrom A.M.... Anneren G.	2004	SCNN1G
3	Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: exclusion of claudin-8 as a candidate gene. (15345917)	Huey C.L.... Yu A.S.	2004	NR3C2, CLDN8
4	Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. (9662404)	Geller D.S.... Lifton R.P.	1998	NR3C2, SCNN1G

Genes related to pseudohypoaldosteronism type i according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	NR3C2	nuclear receptor subfamily 3, group C, member 2	11.1	Publications, Summaries
2	SCNN1G	sodium channel, non-voltage-gated 1, gamma subunit	11.0	Publications
3	SCNN1A	sodium channel, non-voltage-gated 1 alpha subunit	11.0	Publications
4	SCNN1B	sodium channel, non-voltage-gated 1, beta subunit	11.0	Publications
5	CLDN8	claudin 8	11.0	Publications
6	SGK1	serum/glucocorticoid regulated kinase 1	11.0	Publications
7	EPHA3	EPH receptor A3	11.0	Publications

Pathways related to pseudohypoaldosteronism type i according to GeneDecks:

(show all 12)

id	Pathway	Score	Top Affiliating Genes
1	NO-dependent CFTR activation (normal and CF)41	9.3	SCNN1B, SCNN1A, SCNN1G
2	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)41	9.3	SCNN1G, SCNN1B, SCNN1A
3	Sodium channels and transporters- inward current10	9.3	SCNN1G, SCNN1B, SCNN1A
4	Taste transduction20	9.3	SCNN1B, SCNN1A, SCNN1G
5	GHRH Signaling36	9.2	SCNN1B, SCNN1G, SCNN1A
6	Aldosterone Signaling in Epithelial Cells36	9.2	SCNN1G, SCNN1A, SCNN1B
7	Cholera Infection36	9.2	SCNN1G, SCNN1B, SCNN1A
8	cAMP Pathway36	9.1	SCNN1G, SCNN1B, SCNN1A
9	Neuropathic Pain-Signaling in Dorsal Horn Neurons36	9.0	SCNN1A, SCNN1G, SCNN1B
10	PKA Signaling36	8.8	SCNN1B, SCNN1G, SCNN1A
11	Activation of cAMP-Dependent PKA36	8.6	EPHA3, SCNN1A, SCNN1B, SCNN1G
12	Aldosterone-regulated sodium reabsorption20	8.1	SGK1, SCNN1A, SCNN1B, SCNN1G, NR3C2

Compounds related to pseudohypoaldosteronism type i according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	thiazide32	9.7	SCNN1A, NR3C2
2	Aldosterone9 18 9	11.4	SGK1, NR3C2
3	spironolactone32 42 34 9 9	13.3	NR3C2, SGK1
4	11beta-hydroxysteroid32	9.2	NR3C2, SGK1
5	triamterene32 9 18 9	11.9	SCNN1B, SCNN1A, NR3C2, SCNN1G
6	amiloride32 9 9	10.9	SCNN1G, SCNN1A, NR3C2, SCNN1B
7	potassium32 9 18 9	11.8	EPHA3, NR3C2, SGK1
8	actinomycin d32	8.5	NR3C2, SCNN1A, SGK1
9	sodium32 18	8.5	EPHA3, NR3C2, SCNN1G, SCNN1B, SCNN1A, SGK1

Cellular components related to pseudohypoaldosteronism type i according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	apical plasma membrane	GO:016324	9.1	SCNN1A, SCNN1B, SCNN1G
2	sodium channel complex	GO:034706	9.0	SCNN1A, SCNN1B, SCNN1G
3	external side of plasma membrane	GO:009897	8.8	SCNN1A, SCNN1B, SCNN1G

Biological processes related to pseudohypoaldosteronism type i according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	wound healing, spreading of epidermal cells	GO:035313	9.5	SCNN1B, SCNN1G
2	sensory perception of taste	GO:050909	9.0	SCNN1B, SCNN1A, SCNN1G
3	excretion	GO:007588	8.8	SCNN1B, SCNN1A, SCNN1G
4	sodium ion transport	GO:006814	8.3	SGK1, SCNN1A, SCNN1B, SCNN1G

Molecular functions related to pseudohypoaldosteronism type i according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	WW domain binding	GO:050699	9.1	SCNN1A, SCNN1B, SCNN1G
2	ligand-gated sodium channel activity	GO:015280	8.8	SCNN1A, SCNN1B, SCNN1G