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encyclopedia of Rare Disease Annotation for Precision Medicine

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	pseudohypoaldosteronism

Disease ID	920
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) 2778 \| GNAS \| CTD_human 149775 \| GNAS-AS1 \| CTD_human 6337 \| SCNN1A \| CTD_human 6338 \| SCNN1B \| CTD_human 6340 \| SCNN1G \| CTD_human 65125 \| WNK1 \| CTD_human 8675 \| STX16 \| CTD_human 4306 \| NR3C2 \| CTD_human 26249 \| KLHL3 \| CTD_human 65266 \| WNK4 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:47) 120 \| ADD3 \| 1.566 \| DISEASES 183 \| AGT \| 1.323 \| DISEASES 279 \| AMY2A \| 1.021 \| DISEASES 280 \| AMY2B \| 1.94 \| DISEASES 1188 \| CLCNKB \| 3.035 \| DISEASES 1364 \| CLDN4 \| 2.145 \| DISEASES 1585 \| CYP11B2 \| 2.691 \| DISEASES 84444 \| DOT1L \| 1.168 \| DISEASES 6453 \| ITSN1 \| 1.907 \| DISEASES 3758 \| KCNJ1 \| 5.704 \| DISEASES 3775 \| KCNK1 \| 2.04 \| DISEASES 3776 \| KCNK2 \| 1.27 \| DISEASES 8645 \| KCNK5 \| 1.84 \| DISEASES 3778 \| KCNMA1 \| 1.55 \| DISEASES 11275 \| KLHL2 \| 3.884 \| DISEASES 401265 \| KLHL31 \| 3.398 \| DISEASES 55366 \| LGR4 \| 1.791 \| DISEASES 389840 \| MAP3K15 \| 3.233 \| DISEASES 2011 \| MARK2 \| 1.075 \| DISEASES 4158 \| MC2R \| 1.164 \| DISEASES 4300 \| MLLT3 \| 2.016 \| DISEASES 4734 \| NEDD4 \| 3.565 \| DISEASES 23327 \| NEDD4L \| 2.084 \| DISEASES 190 \| NR0B1 \| 1.451 \| DISEASES 4306 \| NR3C2 \| 5.806 \| DISEASES 7849 \| PAX8 \| 1.162 \| DISEASES 5873 \| RAB27A \| 1.11 \| DISEASES 6337 \| SCNN1A \| 5.898 \| DISEASES 6338 \| SCNN1B \| 5.272 \| DISEASES 6339 \| SCNN1D \| 2.939 \| DISEASES 6446 \| SGK1 \| 3.93 \| DISEASES 6557 \| SLC12A1 \| 4.052 \| DISEASES 6559 \| SLC12A3 \| 6.017 \| DISEASES 6560 \| SLC12A4 \| 3.295 \| DISEASES 57468 \| SLC12A5 \| 1.132 \| DISEASES 9990 \| SLC12A6 \| 1.688 \| DISEASES 65010 \| SLC26A6 \| 1.683 \| DISEASES 8671 \| SLC4A4 \| 1.793 \| DISEASES 8878 \| SQSTM1 \| 1.28 \| DISEASES 8428 \| STK24 \| 5.607 \| DISEASES 27347 \| STK39 \| 6.26 \| DISEASES 94122 \| SYTL5 \| 2.816 \| DISEASES 56649 \| TMPRSS4 \| 1.433 \| DISEASES 7222 \| TRPC3 \| 1.213 \| DISEASES 140803 \| TRPM6 \| 1.393 \| DISEASES 55503 \| TRPV6 \| 1.055 \| DISEASES 65267 \| WNK3 \| 4.757 \| DISEASES
Locus	(Waiting for update.)

Disease ID	920
Disease	pseudohypoaldosteronism
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0000822 \| Hypertension \| 2 HP:0001894 \| Thrombocytosis \| 1 HP:0002153 \| Elevated serum potassium levels \| 1 HP:0001508 \| Weight faltering \| 1 HP:0002150 \| Hypercalcinuria \| 1

Disease ID	920
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.)

Text Mining Genotype(Total 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.)

Disease ID	920
Disease	pseudohypoaldosteronism
Case	(Waiting for update.)

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