Autosomal Recessive Pseudohypoaldosteronism Type 1 malady

NIH Rare Diseases: Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. Respiratory tract infections are common in affected children. Treatment involves aggressive salt replacement and control of hyperkalemia. The disorder may become less severe with age. Autosomal recessive pseudohypoaldosteronism type 1 (PHA1B) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (SCNN1A, SCNN1B and SCNN1G).³⁰

MalaCards: Autosomal Recessive Pseudohypoaldosteronism Type 1, also known as pseudohypoaldosteronism type 1, recessive, is related to pseudohypoaldosteronism and liddle syndrome. An important gene associated with Autosomal Recessive Pseudohypoaldosteronism Type 1 is SCNN1G (sodium channel, non-voltage-gated 1, gamma subunit), 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 sodium and triamterene have been mentioned in the context of this disorder. Affiliated tissues include colon and kidney, and related mouse phenotypes are normal 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

autosomal recessive pseudohypoaldosteronism type 1 30 pseudohypoaldosteronism type 1, recessive 30 16 pseudohypoaldosteronism, type i, autosomal recessive 43 pseudohypoaldosteronism type 1 autosomal recessive 30

generalized pseudohypoaldosteronism type 1 30 generalized pha1 30 pha1b 30 pha1 16

Diseases related to autosomal recessive pseudohypoaldosteronism type 1 by text searches and GeneDecks gene sharing:

(show top 50)    (show all 87)

id	Related Disease	Score	Top Affiliating Genes
1	pseudohypoaldosteronism	30.2	SCNN1A, SCNN1B, SCNN1G
2	liddle syndrome	28.8	SCNN1G, SCNN1B, SCNN1A
3	pseudohypoaldosteronism type i	27.7	SCNN1G, SCNN1B, SCNN1A
4	hypertension	26.0	SCNN1A, SCNN1B, SCNN1G
5	hyperparathyroidism	25.5	SCNN1A, SCNN1B
6	delayed puberty	12.3	SCNN1A, SCNN1B
7	secondary hyperparathyroidism of renal origin	12.1	SCNN1A, SCNN1B
8	sinusitis	12.0	SCNN1B, SCNN1G
9	ciliary dyskinesia	11.8	SCNN1A, SCNN1B, SCNN1G
10	bronchiectasis	11.8	SCNN1G, SCNN1B, SCNN1A
11	common variable immunodeficiency	11.8	SCNN1A, SCNN1B, SCNN1G
12	aldosteronism	11.7	SCNN1G, SCNN1B, SCNN1A
13	essential hypertension	11.7	SCNN1A, SCNN1B, SCNN1G
14	cystic fibrosis	11.7	SCNN1G, SCNN1B, SCNN1A
15	atherosclerosis	11.7	SCNN1A, SCNN1B, SCNN1G
16	fibrosis	11.6	SCNN1G, SCNN1B, SCNN1A
17	immunodeficiency	11.4	SCNN1G, SCNN1B, SCNN1A
18	leukemia	8.0
19	carcinoma	7.7
20	pseudohypoaldosteronism type ii	7.5
21	hypoxia	6.9
22	myeloid leukemia	6.9
23	breast cancer	6.6
24	chronic myeloid leukemia	6.6
25	soft tissue sarcoma	6.6
26	sarcoma	6.6
27	colorectal cancer	6.3
28	hepatitis b	6.3
29	hepatocellular carcinoma	6.3
30	pelger-huet anomaly	6.3
31	prostatitis	6.3
32	autosomal dominant pseudohypoaldosteronism type 1	6.3
33	hepatitis c	5.8
34	hepatitis	5.8
35	lung cancer	5.8
36	pseudohypoaldosteronism type iib	5.8
37	blindness	5.7
38	colon cancer	5.7
39	glioblastoma	5.7
40	melanoma	5.7
41	neuroblastoma	5.7
42	neuronitis	5.7
43	obesity	5.7
44	pancreatitis	5.7
45	renal cell carcinoma	5.7
46	thyroiditis	5.7
47	acute myeloid leukemia	4.8
48	hodgkin's lymphoma	4.8
49	peripheral neuropathy	4.8
50	acute promyelocytic leukemia	4.8

Approved drugs:

Drug clinical trials:

Genetic tests related to autosomal recessive pseudohypoaldosteronism type 1:

id	Genetic test	Affiliating Genes
1	Autosomal Recessive Pseudohypoaldosteronism Type 1 clinical/research	SCNN1A, SCNN1B, SCNN1G

MalaCards organs/tissues related to autosomal recessive pseudohypoaldosteronism type 1:

²²

MGI Mouse Phenotypes related to autosomal recessive pseudohypoaldosteronism type 1:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	normal phenotype	MP:0002873	8.5	SCNN1A, SCNN1B, SCNN1G
2	renal/urinary system phenotype	MP:0005367	8.4	SCNN1A, SCNN1B, SCNN1G
3	respiratory system phenotype	MP:0005388	8.2	SCNN1A, SCNN1B, SCNN1G

Articles related to autosomal recessive pseudohypoaldosteronism type 1:

id	Title	Authors	Year	Affiliating Genes
1	Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1. (11014928)	Oh Y.S.... Warnock D.G.	2000	SCNN1G
2	Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. (7593448)	Chung E.... Gardiner R.M.	1995	SCNN1G

Genes related to autosomal recessive pseudohypoaldosteronism type 1 according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SCNN1G	sodium channel, non-voltage-gated 1, gamma subunit	11.0	Publications
2	SCNN1A	sodium channel, non-voltage-gated 1 alpha subunit	11.0
3	SCNN1B	sodium channel, non-voltage-gated 1, beta subunit	11.0

Pathways related to autosomal recessive pseudohypoaldosteronism type 1 according to GeneDecks:

(show all 12)

id	Pathway	Score	Top Affiliating Genes
1	NO-dependent CFTR activation (normal and CF)41	8.8	SCNN1G, SCNN1B, SCNN1A
2	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)41	8.7	SCNN1A, SCNN1B, SCNN1G
3	Sodium channels and transporters- inward current10	8.7	SCNN1A, SCNN1B, SCNN1G
4	Aldosterone-regulated sodium reabsorption20	8.7	SCNN1A, SCNN1B, SCNN1G
5	Taste transduction20	8.7	SCNN1A, SCNN1G, SCNN1B
6	GHRH Signaling36	8.7	SCNN1G, SCNN1B, SCNN1A
7	Aldosterone Signaling in Epithelial Cells36	8.6	SCNN1G, SCNN1B, SCNN1A
8	Cholera Infection36	8.6	SCNN1G, SCNN1B, SCNN1A
9	Neuropathic Pain-Signaling in Dorsal Horn Neurons36	8.5	SCNN1B, SCNN1G, SCNN1A
10	cAMP Pathway36	8.5	SCNN1G, SCNN1B, SCNN1A
11	PKA Signaling36	8.4	SCNN1A, SCNN1B, SCNN1G
12	Activation of cAMP-Dependent PKA36	8.2	SCNN1G, SCNN1B, SCNN1A

Compounds related to autosomal recessive pseudohypoaldosteronism type 1 according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	sodium32 18	9.5	SCNN1A, SCNN1B, SCNN1G
2	triamterene32 9 18 9	11.4	SCNN1A, SCNN1B, SCNN1G
3	amiloride32 9 9	10.2	SCNN1A, SCNN1B, SCNN1G

Cellular components related to autosomal recessive pseudohypoaldosteronism type 1 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	apical plasma membrane	GO:016324	8.5	SCNN1A, SCNN1B, SCNN1G
2	sodium channel complex	GO:034706	8.4	SCNN1A, SCNN1B, SCNN1G
3	external side of plasma membrane	GO:009897	8.2	SCNN1A, SCNN1B, SCNN1G

Biological processes related to autosomal recessive pseudohypoaldosteronism type 1 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	response to hypoxia	GO:001666	9.3	SCNN1G, SCNN1B
2	wound healing, spreading of epidermal cells	GO:035313	9.0	SCNN1B, SCNN1G
3	sensory perception of taste	GO:050909	8.6	SCNN1G, SCNN1B, SCNN1A
4	excretion	GO:007588	8.5	SCNN1G, SCNN1B, SCNN1A
5	sodium ion transport	GO:006814	8.4	SCNN1G, SCNN1B, SCNN1A

Molecular functions related to autosomal recessive pseudohypoaldosteronism type 1 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	WW domain binding	GO:050699	8.5	SCNN1A, SCNN1B, SCNN1G
2	ligand-gated sodium channel activity	GO:015280	8.2	SCNN1A, SCNN1B, SCNN1G