Pseudohypoaldosteronism type 1

Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.



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Total: 29 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 29515305
(5830813)
 Rare Cause of Hyperkalemia in the Newborn Period: Report of Two Cases of Pseudohypoaldosteronism Type 1.
Manipriya R, Umamaheswari B, Prakash A, Binu N.
Indian J Nephrol. 2018;28(1):69-72.
Metabolic acidosis
REN
1
(4.0%)		 27725360
 A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.
Kawashima Sonoyama Y, Tajima T, Fujimoto M, Hasegawa A, Miyahara N, Nishimura R, Hashida Y, Hayashi A, Hanaki K, Kanzaki S.
Endocr J. 2017;64(1):83-90.
Lethargy
NR3C2 REN SCNN1G
c|DEL|3252|C
Animals COS Cells Cercopithecus aethiops Down-Regulation Family Homo sapiens Infant, Newborn Japan Male Mineralocorticoid Receptor Pseudohypoaldosteronism
1
(4.0%)		 26936515
 Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency.
Li N, Li J, Ding Y, Yu T, Shen Y, Fu Q, Shen Y, Huang X, Wang J.
Mol Med Rep. 2016;13(4):3127-32.
Metabolic acidosis
CYP11B2
c|SUB|C|1009,337|T c|SUB|C|1009|T;RS#:759384300 c|SUB|G|240-1|A;RS#:771164401
Aldosterone Synthase Asians Base Sequence China Codon, Nonsense Exons HEK293 Cells Heterozygote High-Throughput Nucleotide Sequencing Homo sapiens Infant Male Plasmids Pseudohypoaldosteronism RNA Splicing Sequence Analysis, DNA
1
(4.0%)		 25503463
 Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia.
Tuhan HU, Catli G, Anik A, Onay H, Dundar B, Bober E, Abaci A.
J Pediatr Endocrinol Metab. 2015;28(5-6):701-4.
Acidosis
CYP21A2 SCNN1G
Adrenal Cortex Hormones Cross Reactions Homo sapiens Male Middle Aged
1
(4.0%)		 24654255
 Ocular and skin manifestations in systemic pseudohypoaldosteronism.
Eliwa MS, El-Emmawie AH, Saeed MA.
BMJ Case Rep. 2014;2014:.
Skin rash
Dehydration Females Homo sapiens Hyperkalemia Hyponatremia Infant, Newborn Male Pseudohypoaldosteronism Sibling
1
(4.0%)		 24027733
(3762049)
 Pseudohypoaldosteronism type 1: a rare cause of severe dyselectrolytemia and cardiovascular collapse in neonates.
Saravanapandian N, Paul S, Matthai J.
J Clin Neonatol. 2012;1(4):224-6.
Hyperkalemia
SCNN1G
1
(4.0%)		 23762408
(3675083)
 Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1.
Wang J, Yu T, Yin L, Li J, Yu L, Shen Y, Yu Y, Shen Y, Fu Q.
PLoS One. 2013;8(6):e65676.
Metabolic acidosis
NR3C2 SCNN1A SCNN1B SCNN1G
c|DEL|1311|G c|INS|814_815|G;RS#:747904876 c|SUB|G|1439+1|C
Alternative Splicing Asians Base Sequence Females HEK293 Cells Heterozygote Homo sapiens Homozygote Infant Infant, Newborn Molecular Sequence Data Mutation Pseudohypoaldosteronism RNA Splice Sites
1
(4.0%)		 23680607
 Pseudohypoaldosteronism type 1: management issues.
Sharma R, Pandey M, Kanwal SK, Zennaro MC.
Indian Pediatr. 2013;50(3):331-3.
Pneumonia
SCNN1G
Fatal Outcome Females Homo sapiens Infant, Newborn Peritoneal Dialysis Polystyrenes Pseudohypoaldosteronism
1
(4.0%)		 23426840
 A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1.
Dogan CS, Erdem D, Mesut P, Merve A, Sema A, Iffet B, Afig B.
J Pediatr Endocrinol Metab. 2012;25(9-10):1035-9.
Hyperkalemia
NR3C2 REN SCNN1A SCNN1B SCNN1G
c|SUB|G|1266-1|C
Homo sapiens Infant, Newborn Male Mutation Pseudohypoaldosteronism RNA Splice Sites
1
(4.0%)		 23327809
 Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant.
Javed A, Leonard JM, Cramer C, Kumar S, Kirmani S, Brands CK.
J Pediatr Endocrinol Metab. 2013;26(3-4):393-5.
Failure to thrive
SCNN1G
Failure to Thrive Homo sapiens Infant Male Pneumothorax Pseudohypoaldosteronism Thrombocytosis
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 13

HPO ID Term # of case reports
HP:0002153 Hyperkalemia 14
HP:0002902 Hyponatremia 10
HP:0001942 Metabolic acidosis 6
HP:0001944 Dehydration 3
HP:0002013 Vomiting 2
HP:0002098 Respiratory distress 2
HP:0000127 Renal salt wasting 1
HP:0000859 Hyperaldosteronism 1
HP:0001508 Failure to thrive 1
HP:0001531 Failure to thrive in infancy 1
HP:0002615 Hypotension 1
HP:0004918 Hyperchloremic metabolic acidosis 1
HP:0012605 Hypernatriuria 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID