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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Pseudohypoaldosteronism (D011546)
Child Nodes:
........Pseudohypoaldosteronism, Type IIa (C564160)
........Pseudohypoaldosteronism, Type IIb (C564161)
........Pseudohypoaldosteronism, Type IIc (C564162)
........Tunglang Savage Bellman syndrome (C536927)
Sister Nodes:
..Acidosis, Renal Tubular (D000141) 11
..Azotemia, Familial (C566233)
..Bartter Syndrome (D001477) 8
..Dent Disease (D057973) 1
..Donnai-Barrow syndrome (C536390)
..Fanconi Syndrome (D005198) 3
..Gitelman Syndrome (D053579) 1
..Glycosuria, Renal (D006030) 1
..Hypomagnesemia 1, Intestinal (C566593)
..Hypomagnesemia 2, renal (C537152)
..Hypomagnesemia 4, Renal (C567127)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Hypomagnesemia primary (C537153)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..Hypophosphatemia, Familial (D007015) 11
..Hypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
..Hypouricemia, Renal, 2 (C567426)
..Iminoglycinuria (C536285)
..Liddle Syndrome (D056929)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..Oculocerebrorenal Syndrome (D009800) 1
..Pseudohypoaldosteronism (D011546) 4
..Renal Aminoacidurias (D000608) 9
..Renal hypouricemia (C537757)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9417

Name:

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.

Alternative IDs:

OMIM:145260|OMIM:177735|OMIM:264350|OMIM:603233|OMIM:612462

ParentIDs:

MESH:D015499

TreeNumbers:

C12.777.419.815.770 |C13.351.968.419.815.770 |C16.320.565.861.770 |C18.452.648.861.770

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: D011546
MeSH: D011546
OMIM: 145260;

Genes: GNAS; GNAS-AS1; NR3C2; SCNN1A; SCNN1B; SCNN1G; STX16;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001995	Hyperchloremic acidosis
3	HP:0002153	Hyperkalemia
4	HP:0000822	Hypertension
5	HP:0007215	Periodic hyperkalemic paralysis
6	HP:0008242	Pseudohypoaldosteronism

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_003590.4(CUL3):c.1376_1377+4del	8452	CUL3	Pathogenic	199469657	RCV000128495;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368365	225368370	NM_003590.4:c.1376_1377+4del		NC_000002.11:g.225368365_225368370delTTACCT	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1377+3A>G	8452	CUL3	Pathogenic	199469661	RCV000128498;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368366	225368366	NM_003590.4:c.1377+3A>G		NC_000002.11:g.225368366T>C	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1377+1G>C	8452	CUL3	Pathogenic	199469660	RCV000128497;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368368	225368368	NM_003590.4:c.1377+1G>C		NC_000002.11:g.225368368C>G	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1377dupG (p.Thr460Aspfs)	8452	CUL3	Pathogenic	199469659	RCV000128496;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368369	225368369	NM_003590.4:c.1377dupG	NP_003581.1:p.Thr460Aspfs	NC_000002.11:g.225368369dupC	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1376A>G (p.Lys459Arg)	8452	CUL3	Pathogenic	199469658	RCV000128494;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368370	225368370	NM_003590.4:c.1376A>G	NP_003581.1:p.Lys459Arg	NC_000002.11:g.225368370T>C	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1238A>G (p.Asp413Gly)	8452	CUL3	Pathogenic	199469656	RCV000128493; RCV000023258;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008; MedGen:C3469606,OMIM:614496,ORPHA:300530	2	225368508	225368508	NM_003590.4:c.1238A>G	NP_003581.1:p.Asp413Gly	NC_000002.11:g.225368508T>C	OMIM Allelic Variant:603136.0007	C3469606 614496 Pseudohypoaldosteronism type 2E; C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1236G>A (p.Leu412=)	8452	CUL3	Pathogenic	199469655	RCV000128492;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368510	225368510	NM_003590.4:c.1236G>A	NP_003581.1:p.Leu412=	NC_000002.11:g.225368510C>T	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1207-1G>A	8452	CUL3	Pathogenic	199469654	RCV000128487;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368540	225368540	NM_003590.4:c.1207-1G>A		NC_000002.11:g.225368540C>T	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1207-3C>T	8452	CUL3	Pathogenic	199469653	RCV000128490;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368542	225368542	NM_003590.4:c.1207-3C>T		NC_000002.11:g.225368542G>A	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1207-5T>A	8452	CUL3	Pathogenic	199469652	RCV000128491;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368544	225368544	NM_003590.4:c.1207-5T>A		NC_000002.11:g.225368544A>T	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1207-12T>G	8452	CUL3	Pathogenic	199469651	RCV000128486;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368551	225368551	NM_003590.4:c.1207-12T>G		NC_000002.11:g.225368551A>C	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1207-26A>G	8452	CUL3	Pathogenic	199469650	RCV000128488;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368565	225368565	NM_003590.4:c.1207-26A>G		NC_000002.11:g.225368565T>C	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_003590.4(CUL3):c.1207-28T>G	8452	CUL3	Pathogenic	199469649	RCV000128489;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	2	225368567	225368567	NM_003590.4:c.1207-28T>G		NC_000002.11:g.225368567A>C	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1723C>T (p.Arg575Trp)	26249	KLHL3	Pathogenic	199469646	RCV000128520;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136961454	136961454	NM_017415.2:c.1723C>T	NP_059111.2:p.Arg575Trp	NC_000005.9:g.136961454G>A	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1670A>G (p.Tyr557Cys)	26249	KLHL3	Pathogenic	199469645	RCV000128524; RCV000023478;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008; MedGen:C3469605,OMIM:614495,ORPHA:300525	5	136961507	136961507	NM_017415.2:c.1670A>G	NP_059111.2:p.Tyr557Cys	NC_000005.9:g.136961507T>C	OMIM Allelic Variant:605775.0007	C3469605 614495 Pseudohypoaldosteronism type 2D; C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1583G>A (p.Arg528His)	26249	KLHL3	Pathogenic	199469636	RCV000128519; RCV000023475;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008; MedGen:C3469605,OMIM:614495,ORPHA:300525	5	136963994	136963994	NM_017415.2:c.1583G>A	NP_059111.2:p.Arg528His	NC_000005.9:g.136963994C>T	OMIM Allelic Variant:605775.0004	C3469605 614495 Pseudohypoaldosteronism type 2D; C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1582C>T (p.Arg528Cys)	26249	KLHL3	Pathogenic	199469635	RCV000128518; RCV000023479;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008; MedGen:C3469605,OMIM:614495,ORPHA:300525	5	136963995	136963995	NM_017415.2:c.1582C>T	NP_059111.2:p.Arg528Cys	NC_000005.9:g.136963995G>A	OMIM Allelic Variant:605775.0008	C3469605 614495 Pseudohypoaldosteronism type 2D; C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1501C>A (p.Pro501Thr)	26249	KLHL3	Pathogenic	199469634	RCV000128511;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136964076	136964076	NM_017415.2:c.1501C>A	NP_059111.2:p.Pro501Thr	NC_000005.9:g.136964076G>T	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1480G>A (p.Ala494Thr)	26249	KLHL3	Pathogenic	199469633	RCV000128503;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136964097	136964097	NM_017415.2:c.1480G>A	NP_059111.2:p.Ala494Thr	NC_000005.9:g.136964097C>T	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1410G>A (p.Trp470Ter)	26249	KLHL3	Pathogenic	199469644	RCV000128499;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136969766	136969766	NM_017415.2:c.1410G>A	NP_059111.2:p.Trp470Ter	NC_000005.9:g.136969766C>T	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1298G>A (p.Ser433Asn)	26249	KLHL3	Pathogenic	199469632	RCV000128523; RCV000023480;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008; MedGen:C3469605,OMIM:614495,ORPHA:300525	5	136973006	136973006	NM_017415.2:c.1298G>A	NP_059111.2:p.Ser433Asn	NC_000005.9:g.136973006C>T	OMIM Allelic Variant:605775.0009	C3469605 614495 Pseudohypoaldosteronism type 2D; C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1295G>A (p.Ser432Asn)	26249	KLHL3	Pathogenic	199469631	RCV000128522;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136973009	136973009	NM_017415.2:c.1295G>A	NP_059111.2:p.Ser432Asn	NC_000005.9:g.136973009C>T	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1292G>A (p.Arg431Gln)	26249	KLHL3	Pathogenic	199469643	RCV000128517;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136973012	136973012	NM_017415.2:c.1292G>A	NP_059111.2:p.Arg431Gln	NC_000005.9:g.136973012C>T	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1280T>C (p.Met427Thr)	26249	KLHL3	Pathogenic	199469642	RCV000128509;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136973024	136973024	NM_017415.2:c.1280T>C	NP_059111.2:p.Met427Thr	NC_000005.9:g.136973024A>G	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1229C>T (p.Ser410Leu)	26249	KLHL3	Pathogenic	199469641	RCV000128521; RCV000023474;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008; MedGen:C3469605,OMIM:614495,ORPHA:300525	5	136973075	136973075	NM_017415.2:c.1229C>T	NP_059111.2:p.Ser410Leu	NC_000005.9:g.136973075G>A	OMIM Allelic Variant:605775.0003	C3469605 614495 Pseudohypoaldosteronism type 2D; C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1160T>C (p.Leu387Pro)	26249	KLHL3	Pathogenic	199469630	RCV000128508;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136974701	136974701	NM_017415.2:c.1160T>C	NP_059111.2:p.Leu387Pro	NC_000005.9:g.136974701A>G	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1151G>A (p.Arg384Gln)	26249	KLHL3	Pathogenic	199469629	RCV000128516;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136974710	136974710	NM_017415.2:c.1151G>A	NP_059111.2:p.Arg384Gln	NC_000005.9:g.136974710C>T	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1019C>T (p.Ala340Val)	26249	KLHL3	Pathogenic	199469628	RCV000128502;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136975551	136975551	NM_017415.2:c.1019C>T	NP_059111.2:p.Ala340Val	NC_000005.9:g.136975551G>A	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.1007G>T (p.Arg336Ile)	26249	KLHL3	Pathogenic	199469640	RCV000128515; RCV000023477;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008; MedGen:C3469605,OMIM:614495,ORPHA:300525	5	136975563	136975563	NM_017415.2:c.1007G>T	NP_059111.2:p.Arg336Ile	NC_000005.9:g.136975563C>A	OMIM Allelic Variant:605775.0006	C3469605 614495 Pseudohypoaldosteronism type 2D; C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.965T>G (p.Phe322Cys)	26249	KLHL3	Pathogenic	199469639	RCV000128507; RCV000023473;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008; MedGen:C3469605,OMIM:614495,ORPHA:300525	5	136975605	136975605	NM_017415.2:c.965T>G	NP_059111.2:p.Phe322Cys	NC_000005.9:g.136975605A>C	OMIM Allelic Variant:605775.0002	C3469605 614495 Pseudohypoaldosteronism type 2D; C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.926A>G (p.Gln309Arg)	26249	KLHL3	Pathogenic	199469627	RCV000128513;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136975644	136975644	NM_017415.2:c.926A>G	NP_059111.2:p.Gln309Arg	NC_000005.9:g.136975644T>C	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.753+1G>A	26249	KLHL3	Pathogenic	199469648	RCV000128501;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136997603	136997603	NM_017415.2:c.753+1G>A		NC_000005.9:g.136997603C>T	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.721delC (p.Leu241Phefs)	26249	KLHL3	Pathogenic	199469647	RCV000128500;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	136997636	136997636	NM_017415.2:c.721delC	NP_059111.2:p.Leu241Phefs	NC_000005.9:g.136997636delG	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.718C>T (p.Arg240Ter)	26249	KLHL3	Pathogenic	199469638	RCV000128514; RCV000023476;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008; MedGen:C3469605,OMIM:614495,ORPHA:300525	5	136997639	136997639	NM_017415.2:c.718C>T	NP_059111.2:p.Arg240Ter	NC_000005.9:g.136997639G>A	OMIM Allelic Variant:605775.0005	C3469605 614495 Pseudohypoaldosteronism type 2D; C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.491G>T (p.Cys164Phe)	26249	KLHL3	Pathogenic	199469626	RCV000128505;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	137028009	137028009	NM_017415.2:c.491G>T	NP_059111.2:p.Cys164Phe	NC_000005.9:g.137028009C>A	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.430C>T (p.Gln144Ter)	26249	KLHL3	Pathogenic	199469637	RCV000128512;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	137028070	137028070	NM_017415.2:c.430C>T	NP_059111.2:p.Gln144Ter	NC_000005.9:g.137028070G>A	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.254A>C (p.Glu85Ala)	26249	KLHL3	Pathogenic	199469625	RCV000128506;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	137034085	137034085	NM_017415.2:c.254A>C	NP_059111.2:p.Glu85Ala	NC_000005.9:g.137034085T>G	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.232A>G (p.Met78Val)	26249	KLHL3	Pathogenic	199469624	RCV000128510;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	137045448	137045448	NM_017415.2:c.232A>G	NP_059111.2:p.Met78Val	NC_000005.9:g.137045448T>C	-	C1449844 145260 Pseudohypoaldosteronism, type 2
NM_017415.2(KLHL3):c.230C>A (p.Ala77Glu)	26249	KLHL3	Pathogenic	199469623	RCV000128504;	N	Gene:7830,MedGen:C1449844,OMIM:145260,ORPHA:757,SNOMED CT:15689008	5	137045450	137045450	NM_017415.2:c.230C>A	NP_059111.2:p.Ala77Glu	NC_000005.9:g.137045450G>T	-	C1449844 145260 Pseudohypoaldosteronism, type 2