PedAM

Pediatric Disease Annotations & Medicines


	pseudohypoaldosteronism

Disease ID	440
Disease	pseudohypoaldosteronism
Definition	A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION.
Synonym	pseudohypoadrenocorticalism pseudohypoaldosteronism (disorder) pseudohypoaldosteronism [disease/finding] pseudohypoaldosteronism, nos pseudohypoaldosteronisms
Orphanet	ORPHANET:444916
DOID	DOID:4479
UMLS	C0033805
MeSH	D011546
SNOMED-CT	SNOMEDCT_US_2016_09_01:77098009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0020538 \| hypertension \| 2 C0836924 \| thrombocytosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) GNAS \| 2778 \| CTD_human SCNN1B \| 6338 \| CTD_human WNK1 \| 65125 \| CTD_human GNAS-AS1 \| 149775 \| CTD_human SCNN1A \| 6337 \| CTD_human SCNN1G \| 6340 \| CTD_human STX16 \| 8675 \| CTD_human NR3C2 \| 4306 \| CTD_human WNK4 \| 65266 \| CTD_human KLHL3 \| 26249 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:88) 1080 \| CFTR \| DISEASES 55359 \| STYK1 \| DISEASES 771 \| CA12 \| DISEASES 359 \| AQP2 \| DISEASES 201294 \| UNC13D \| DISEASES 9978 \| RBX1 \| DISEASES 40 \| ASIC2 \| DISEASES 2908 \| NR3C1 \| DISEASES 525 \| ATP6V1B1 \| DISEASES 65266 \| WNK4 \| DISEASES 50617 \| ATP6V0A4 \| DISEASES 10060 \| ABCC9 \| DISEASES 6558 \| SLC12A2 \| DISEASES 9424 \| KCNK6 \| DISEASES 23476 \| BRD4 \| DISEASES 8452 \| CUL3 \| DISEASES 27338 \| UBE2S \| DISEASES 23530 \| NNT \| DISEASES 5443 \| POMC \| DISEASES 118 \| ADD1 \| DISEASES 10723 \| SLC12A7 \| DISEASES 56302 \| TRPV5 \| DISEASES 5972 \| REN \| DISEASES 10225 \| CD96 \| DISEASES 9073 \| CLDN8 \| DISEASES 64699 \| TMPRSS3 \| DISEASES 486 \| FXYD2 \| DISEASES 431707 \| LHX8 \| DISEASES 65268 \| WNK2 \| DISEASES 57447 \| NDRG2 \| DISEASES 9317 \| PTER \| DISEASES 55832 \| CAND1 \| DISEASES 6340 \| SCNN1G \| DISEASES 51704 \| GPRC5B \| DISEASES 9943 \| OXSR1 \| DISEASES 26249 \| KLHL3 \| DISEASES 65125 \| WNK1 \| DISEASES 1831 \| TSC22D3 \| DISEASES 4302 \| MLLT6 \| DISEASES 3291 \| HSD11B2 \| DISEASES 5652 \| PRSS8 \| DISEASES 1585 \| CYP11B2 \| DISEASES 4158 \| MC2R \| DISEASES 5873 \| RAB27A \| DISEASES 4306 \| NR3C2 \| DISEASES 1364 \| CLDN4 \| DISEASES 4734 \| NEDD4 \| DISEASES 389840 \| MAP3K15 \| DISEASES 6338 \| SCNN1B \| DISEASES 65267 \| WNK3 \| DISEASES 27347 \| STK39 \| DISEASES 120 \| ADD3 \| DISEASES 55503 \| TRPV6 \| DISEASES 8645 \| KCNK5 \| DISEASES 6337 \| SCNN1A \| DISEASES 140803 \| TRPM6 \| DISEASES 280 \| AMY2B \| DISEASES 3775 \| KCNK1 \| DISEASES 183 \| AGT \| DISEASES 6446 \| SGK1 \| DISEASES 401265 \| KLHL31 \| DISEASES 1188 \| CLCNKB \| DISEASES 8428 \| STK24 \| DISEASES 190 \| NR0B1 \| DISEASES 6339 \| SCNN1D \| DISEASES 55366 \| LGR4 \| DISEASES 7222 \| TRPC3 \| DISEASES 4300 \| MLLT3 \| DISEASES 6557 \| SLC12A1 \| DISEASES 6453 \| ITSN1 \| DISEASES 8878 \| SQSTM1 \| DISEASES 3758 \| KCNJ1 \| DISEASES 65010 \| SLC26A6 \| DISEASES 84444 \| DOT1L \| DISEASES 23327 \| NEDD4L \| DISEASES 2011 \| MARK2 \| DISEASES 3778 \| KCNMA1 \| DISEASES 57468 \| SLC12A5 \| DISEASES 8671 \| SLC4A4 \| DISEASES 3776 \| KCNK2 \| DISEASES 94122 \| SYTL5 \| DISEASES 7849 \| PAX8 \| DISEASES 6560 \| SLC12A4 \| DISEASES 279 \| AMY2A \| DISEASES 6559 \| SLC12A3 \| DISEASES 56649 \| TMPRSS4 \| DISEASES 11275 \| KLHL2 \| DISEASES 9990 \| SLC12A6 \| DISEASES
Locus	(Waiting for update.)

Disease ID	440
Disease	pseudohypoaldosteronism
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0000822 \| Hypertension \| 2 HP:0001508 \| Weight faltering \| 1 HP:0002153 \| Elevated serum potassium levels \| 1 HP:0001894 \| Thrombocytosis \| 1 HP:0002150 \| Hypercalcinuria \| 1

Disease ID	440
Disease	pseudohypoaldosteronism
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C1963138 \| hypertension C0235394 \| wasting C0037284 \| skin lesions C0027709 \| nephrocalcinosis C0020438 \| hypercalciuria C0020437 \| hypercalcemia C0017168 \| gastroesophageal reflux
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0020538 \| hypertension \| 2 C0020438 \| hypercalciuria \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0033805	indomethacin	D007213	53-86-1	pseudohypoaldosteronism	MESH:D011546	therapeutic	3856211

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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