DA3
MCID: PSD020
MIFTS: 57

Pseudohypoaldosteronism Type Ii (DA3) malady

Genetic diseases, Rare diseases, Fetal diseases, Nephrological diseases, Cardiovascular diseases categories

Summaries for Pseudohypoaldosteronism Type Ii

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44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Gordon syndrome is a rare, inheritedĀ type of distal arthrogryposisĀ typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate. intelligence is usually normal. in some cases, additional abnormalities such as scoliosis or undescended testicles in males may be present. the range and severity of symptoms may vary from case to case. gordon syndrome is thought to be inherited in an autosomal dominant or x-linked dominantĀ manner. the exact cause remains unknown. last updated: 12/5/2012

MalaCards: Pseudohypoaldosteronism Type Ii, also known as pseudohypoaldosteronism type 2, is related to pseudohypoaldosteronism and hypertension, and has symptoms including camptodactyly of fingers, clinodactyly of fifth finger and facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy. An important gene associated with Pseudohypoaldosteronism Type Ii is PIEZO2 (piezo-type mechanosensitive ion channel component 2), and among its related pathways are PI3K / Akt Signaling and Aldosterone-regulated sodium reabsorption. The compounds bendroflumethiazide and amg 9810 have been mentioned in the context of this disorder. Affiliated tissues include testes and bone, and related mouse phenotypes are cardiovascular system and behavior/neurological.

Genetics Home Reference:22 Pseudohypoaldosteronism type 2 (PHA2) is a condition characterized by problems regulating the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys.

Description from OMIM:48 114300

GeneReviews summary for pha2

Aliases & Classifications for Pseudohypoaldosteronism Type Ii

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
gordon syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

pseudohypoaldosteronism type ii 20 22
pseudohypoaldosteronism type 2 20 44 21 23 22
gordon syndrome 44 46 50
gordon hyperkalemia-hypertension syndrome 44 22
distal arthrogryposis type 3 44 50
pha2 20 44
arthrogryposis multiplex congenita, distal, type iia 63
arthrogryposis multiplex congenita distal type 2a 44
hyperpotassemia and hypertension, familial 63
camptodactyly, cleft palate, and clubfoot 44
hyperpotassemia and hypertension familial 44
familial hyperpotassemia and hypertension 22
camptodactyly - cleft palate- clubfoot 50
familial hypertensive hyperkalemia 22
familial hyperkalemiahypertension 20
pseudohypoaldosteronism, type ii 63
arthrogryposis, distal, type 3 48
distal arthrogryposis syndrome 63
distal arthrogryposis type iia 50
arthrogryposis distal type 3 44
chloride shunt syndrome 44
gordonā€™s syndrome 20
phaii 20
da3 44


External Ids:

OMIM48 114300
MESH via Orphanet37 C537288
ICD10 via Orphanet27 Q87.8
SNOMED-CT via Orphanet60 237850008

Related Diseases for Pseudohypoaldosteronism Type Ii

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18GeneCards, 19GeneDecks
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Diseases in the Pseudohypoaldosteronism Type Iib family:

Pseudohypoaldosteronism pseudohypoaldosteronism type ii
Pseudohypoaldosteronism Type Iic Pseudohypoaldosteronism Type Iie
Pseudohypoaldosteronism Type Iid Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism, Type Iia Transient Pseudohypoaldosteronism

Diseases related to Pseudohypoaldosteronism Type Ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism31.1SLC12A3, WNK4, WNK1, REN, SCNN1A, KCNJ1
2hypertension30.6SCNN1A, REN, WNK1, WNK4, SLC12A3
3pseudohypoaldosteronism type iib10.4
4cleft palate10.2
5distal arthrogryposis10.2
6keratoderma palmoplantar spastic paralysis10.2
7renal tubular acidosis10.2
8familial hypertension10.2
9hyperkalemic periodic paralysis10.2
10bartter disease10.1KCNJ1
11aase-smith syndrome10.1
12arthrogryposis multiplex congenita distal type 110.1
13distal arthrogryposis type 510.1
14dominant cleft palate10.1
15pseudohypoaldosteronism type iid10.1
16autonomic neuropathy10.1REN
17liddle syndrome10.1WNK4, SCNN1A
18hypervitaminosis d10.0TRPV5, TRPV6
19bartter syndrome, type 210.0REN, KCNJ1
20stroke, ischemic10.0SLC12A3, REN
21metabolic acidosis10.0WNK4, REN
22bartter syndrome type 310.0KCNJ1, REN, SLC12A3
23hyperaldosteronism10.0SLC12A3, REN, KCNJ1
24hypokalemia10.0KCNJ1, REN, SLC12A3
25gitelman syndrome10.0SLC12A3, WNK1, REN, KCNJ1
26primary hyperoxaluria9.9SLC12A3, REN, KCNJ1
27essential hypertension9.9REN, WNK1, WNK4, SLC12A3, TRPC5

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism Type Ii:



Diseases related to pseudohypoaldosteronism type ii

Symptoms for Pseudohypoaldosteronism Type Ii

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

114300

Clinical features from OMIM:

114300

Symptoms:

50 (show all 15)
  • camptodactyly of fingers
  • clinodactyly of fifth finger
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • talipes-varus/metatarsal varus
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • short stature/dwarfism/nanism
  • restricted joint mobility/joint stiffness/ankylosis
  • hearing loss/hypoacusia/deafness
  • high vaulted/narrow palate
  • autosomal dominant inheritance
  • scoliosis
  • syndactyly of fingers/interdigital palm
  • pectus excavatum

Drugs & Therapeutics for Pseudohypoaldosteronism Type Ii

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Pseudohypoaldosteronism Type Ii

Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism Type Ii

Search NIH Clinical Center for Pseudohypoaldosteronism Type Ii

Search CenterWatch for Pseudohypoaldosteronism Type Ii

Genetic Tests for Pseudohypoaldosteronism Type Ii

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21GeneTests, 23GTR
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Genetic tests related to Pseudohypoaldosteronism Type Ii:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type Ii21 WNK4
2 Pseudohypoaldosteronism, Type 223

Anatomical Context for Pseudohypoaldosteronism Type Ii

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34MalaCards
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MalaCards organs/tissues related to Pseudohypoaldosteronism Type Ii:

34
Testes, Bone

Animal Models for Pseudohypoaldosteronism Type Ii or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pseudohypoaldosteronism Type Ii:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.7SLC12A3, WNK4, WNK1, REN, KCNJ1
2MP:00053867.6KCNJ1, SCNN1A, REN, TRPV6, TRPV5, TRPC5
3MP:00053677.5TRPV5, KCNJ1, SCNN1A, REN, WNK1, WNK4
4MP:00053787.4KCNJ1, SCNN1A, CUL3, REN, WNK1, TRPV6
5MP:00053766.9KCNJ1, SCNN1A, REN, WNK1, WNK4, SLC12A3

Publications for Pseudohypoaldosteronism Type Ii

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53PubMed
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Articles related to Pseudohypoaldosteronism Type Ii:

(show all 18)
idTitleAuthorsYear
1
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. (24396028)
2014
2
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. (23689903)
2013
3
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). (23336180)
2013
4
A molecular update on pseudohypoaldosteronism type II. (24107425)
2013
5
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. (23902721)
2013
6
Phenotypes of pseudohypoaldosteronism type II caused by the WNK4 D561A missense mutation are dependent on the WNK-OSR1/SPAK kinase cascade. (21486947)
2011
7
Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism type II. (21196779)
2011
8
Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice. (20181799)
2010
9
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. (19016006)
2008
10
Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. (17488636)
2007
11
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. (15998707)
2005
12
Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. (12107233)
2002
13
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. (10869238)
2000
14
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. (9171836)
1997
15
Furosemide and dDAVP for the treatment of pseudohypoaldosteronism type II. (9492109)
1997
16
Pseudohypoaldosteronism Type II (22073419)
1993
17
Syndrome of hypertension and hyperkalemia with normal GFR (Gordon's syndrome: pseudohypoaldosteronism type II). (8143511)
1993
18
Pseudohypoaldosteronism type II: proximal renal tubular acidosis and dDAVP-sensitive renal hyperkalemia. (3777034)
1986

Variations for Pseudohypoaldosteronism Type Ii

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Pseudohypoaldosteronism Type Ii:

1 (show all 41)
id Gene Name Type Significance SNP ID Assembly Location
1CUL3NM_003590.4(CUL3): c.1207-12T> Gsingle nucleotide variantPathogenicrs199469651GRCh37Chr 2, 225368551: 225368551
2CUL3NM_003590.4(CUL3): c.1207-1G> Asingle nucleotide variantPathogenicrs199469654GRCh37Chr 2, 225368540: 225368540
3CUL3NM_003590.4(CUL3): c.1207-26A> Gsingle nucleotide variantPathogenicrs199469650GRCh37Chr 2, 225368565: 225368565
4CUL3NM_003590.4(CUL3): c.1207-28T> Gsingle nucleotide variantPathogenicrs199469649GRCh37Chr 2, 225368567: 225368567
5CUL3NM_003590.4(CUL3): c.1207-3C> Tsingle nucleotide variantPathogenicrs199469653GRCh37Chr 2, 225368542: 225368542
6CUL3NM_003590.4(CUL3): c.1207-5T> Asingle nucleotide variantPathogenicrs199469652GRCh37Chr 2, 225368544: 225368544
7CUL3NM_003590.4(CUL3): c.1236G> A (p.Leu412=)single nucleotide variantPathogenicrs199469655GRCh37Chr 2, 225368510: 225368510
8CUL3NM_003590.4(CUL3): c.1376A> G (p.Lys459Arg)single nucleotide variantPathogenicrs199469658GRCh37Chr 2, 225368370: 225368370
9CUL3NM_003590.4: c.1376_1377+4delAGGTAAdeletionPathogenicrs199469657GRCh37Chr 2, 225368365: 225368370
10CUL3NM_003590.4(CUL3): c.1377dupG (p.Thr460Aspfs)duplicationPathogenicrs199469659GRCh37Chr 2, 225368369: 225368370
11CUL3NM_003590.4(CUL3): c.1377+1G> Csingle nucleotide variantPathogenicrs199469660GRCh37Chr 2, 225368368: 225368368
12CUL3NM_003590.4(CUL3): c.1377+3A> Gsingle nucleotide variantPathogenicrs199469661GRCh37Chr 2, 225368366: 225368366
13KLHL3NM_017415.2(KLHL3): c.1410G> A (p.Trp470Ter)single nucleotide variantPathogenicrs199469644GRCh37Chr 5, 136969766: 136969766
14KLHL3NM_017415.2(KLHL3): c.721delC (p.Leu241Phefs)deletionPathogenicrs199469647GRCh37Chr 5, 136997636: 136997636
15KLHL3NM_017415.2(KLHL3): c.753+1G> Asingle nucleotide variantPathogenicrs199469648GRCh37Chr 5, 136997603: 136997603
16KLHL3NM_017415.2(KLHL3): c.1019C> T (p.Ala340Val)single nucleotide variantPathogenicrs199469628GRCh37Chr 5, 136975551: 136975551
17KLHL3NM_017415.2(KLHL3): c.1480G> A (p.Ala494Thr)single nucleotide variantPathogenicrs199469633GRCh37Chr 5, 136964097: 136964097
18KLHL3NM_017415.2(KLHL3): c.230C> A (p.Ala77Glu)single nucleotide variantPathogenicrs199469623GRCh37Chr 5, 137045450: 137045450
19KLHL3NM_017415.2(KLHL3): c.491G> T (p.Cys164Phe)single nucleotide variantPathogenicrs199469626GRCh37Chr 5, 137028009: 137028009
20KLHL3NM_017415.2(KLHL3): c.254A> C (p.Glu85Ala)single nucleotide variantPathogenicrs199469625GRCh37Chr 5, 137034085: 137034085
21KLHL3NM_017415.2(KLHL3): c.1160T> C (p.Leu387Pro)single nucleotide variantPathogenicrs199469630GRCh37Chr 5, 136974701: 136974701
22KLHL3NM_017415.2(KLHL3): c.1280T> C (p.Met427Thr)single nucleotide variantPathogenicrs199469642GRCh37Chr 5, 136973024: 136973024
23KLHL3NM_017415.2(KLHL3): c.232A> G (p.Met78Val)single nucleotide variantPathogenicrs199469624GRCh37Chr 5, 137045448: 137045448
24KLHL3NM_017415.2(KLHL3): c.1501C> A (p.Pro501Thr)single nucleotide variantPathogenicrs199469634GRCh37Chr 5, 136964076: 136964076
25KLHL3NM_017415.2(KLHL3): c.430C> T (p.Gln144Ter)single nucleotide variantPathogenicrs199469637GRCh37Chr 5, 137028070: 137028070
26KLHL3NM_017415.2(KLHL3): c.926A> G (p.Gln309Arg)single nucleotide variantPathogenicrs199469627GRCh37Chr 5, 136975644: 136975644
27KLHL3NM_017415.2(KLHL3): c.1151G> A (p.Arg384Gln)single nucleotide variantPathogenicrs199469629GRCh37Chr 5, 136974710: 136974710
28KLHL3NM_017415.2(KLHL3): c.1292G> A (p.Arg431Gln)single nucleotide variantPathogenicrs199469643GRCh37Chr 5, 136973012: 136973012
29KLHL3NM_017415.2(KLHL3): c.1723C> T (p.Arg575Trp)single nucleotide variantPathogenicrs199469646GRCh37Chr 5, 136961454: 136961454
30KLHL3NM_017415.2(KLHL3): c.1295G> A (p.Ser432Asn)single nucleotide variantPathogenicrs199469631GRCh37Chr 5, 136973009: 136973009
31PIEZO2PIEZO2, 8-BP DEL, NT8238deletionPathogenic
32PIEZO2NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His)single nucleotide variantPathogenicGRCh38Chr 18, 10671729: 10671729
33CUL3NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly)single nucleotide variantPathogenicrs199469656GRCh37Chr 2, 225368508: 225368508
34KLHL3NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys)single nucleotide variantPathogenicrs199469639GRCh37Chr 5, 136975605: 136975605
35KLHL3NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu)single nucleotide variantPathogenicrs199469641GRCh37Chr 5, 136973075: 136973075
36KLHL3NM_017415.2(KLHL3): c.1583G> A (p.Arg528His)single nucleotide variantPathogenicrs199469636GRCh37Chr 5, 136963994: 136963994
37KLHL3NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs199469638GRCh37Chr 5, 136997639: 136997639
38KLHL3NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile)single nucleotide variantPathogenicrs199469640GRCh37Chr 5, 136975563: 136975563
39KLHL3NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys)single nucleotide variantPathogenicrs199469645GRCh37Chr 5, 136961507: 136961507
40KLHL3NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys)single nucleotide variantPathogenicrs199469635GRCh37Chr 5, 136963995: 136963995
41KLHL3NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn)single nucleotide variantPathogenicrs199469632GRCh37Chr 5, 136973006: 136973006

Expression for genes affiliated with Pseudohypoaldosteronism Type Ii

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudohypoaldosteronism Type Ii

Search GEO for disease gene expression data for Pseudohypoaldosteronism Type Ii.

Pathways for genes affiliated with Pseudohypoaldosteronism Type Ii

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Sources:
51PathCards, 5Cell Signaling Technology, 31KEGG, 13EMD Millipore, 56Reactome, 52PharmGKB
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Pathways related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9WNK4, WNK1
29.7SCNN1A, KCNJ1
3
Show member pathways
9.5TRPC5, SCNN1A
49.1TRPV6, TRPV5, TRPC5
59.1TRPC5, TRPV5, TRPV6
68.8SLC12A3, WNK4, WNK1, SCNN1A, KCNJ1
7
Show member pathways
8.1SCNN1A, WNK1, WNK4, TRPV6, TRPV5, TRPC5
8
Show member pathways
7.8SCNN1A, WNK1, WNK4, SLC12A3, TRPV6, TRPV5

Compounds for genes affiliated with Pseudohypoaldosteronism Type Ii

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46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB, 52PharmGKB
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Compounds related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1bendroflumethiazide46 1210.9SLC12A3, REN
2amg 9810629.9TRPV6, TRPV5
35-iodoresiniferatoxin62 3010.9TRPV6, TRPV5
4hc 067047629.9TRPV6, TRPV5
5capsazepine62 46 3011.9TRPV6, TRPV5
6ruthenium red309.9TRPV6, TRPV5
7mg2+309.8TRPV6, TRPV5
8chlorine46 2510.8WNK1, WNK4, SLC12A3
9diazoxide46 62 30 1212.8KCNJ1, SLC12A3
10la3+309.6TRPC5, TRPV6
11amiloride46 30 1211.6REN, SCNN1A
122-apb30 6210.6TRPC5, TRPV6
13anandamide62 46 30 2512.5TRPV5, TRPV6
14furosemide46 62 30 52 25 1214.4SLC12A3, REN
15hydrochlorothiazide46 30 52 25 1213.3KCNJ1, REN, WNK1, SLC12A3
16magnesium46 25 1211.3KCNJ1, WNK1, WNK4, TRPV5
17chloride469.0KCNJ1, REN, WNK1, WNK4, SLC12A3
18potassium46 25 1211.0KCNJ1, REN, WNK1, WNK4, SLC12A3
19thiazide469.0SLC12A3, WNK4, WNK1, REN, SCNN1A
20lysine468.9KCNJ1, CUL3, WNK1, WNK4, SLC12A3
21nacl468.7KCNJ1, SCNN1A, REN, WNK1, WNK4, SLC12A3
22sodium46 259.6KCNJ1, SCNN1A, REN, WNK1, WNK4, SLC12A3
23calcium46 52 25 1211.1TRPC5, TRPV5, TRPV6, SLC12A3, WNK1, REN

GO Terms for genes affiliated with Pseudohypoaldosteronism Type Ii

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17Gene Ontology
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Cellular components related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.4TRPV5, SLC12A3, SCNN1A
2integral component of plasma membraneGO:0058878.3TRPC5, TRPV5, TRPV6, SLC12A3, SCNN1A
3plasma membraneGO:0058867.2KCNJ1, SCNN1A, REN, SLC12A3, TRPV6, TRPV5

Biological processes related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1regulation of cellular processGO:05079410.1WNK4, WNK1
2negative regulation of pancreatic juice secretionGO:09018810.1WNK4, WNK1
3renal sodium ion absorptionGO:07029410.0KCNJ1, WNK4
4chloride transportGO:0068219.8WNK4, SLC12A3
5sodium ion transmembrane transportGO:0357259.7SLC12A3, SCNN1A
6ion transportGO:0068119.6SLC12A3, WNK4, WNK1
7excretionGO:0075889.6SCNN1A, KCNJ1
8sodium ion transportGO:0068149.4SLC12A3, SCNN1A
9calcium ion transmembrane transportGO:0705889.3TRPC5, TRPV5, TRPV6
10calcium ion transportGO:0068169.2TRPC5, TRPV5, TRPV6
11ion transmembrane transportGO:0342209.0TRPC5, TRPV5, TRPV6, SCNN1A
12transmembrane transportGO:0550858.6SCNN1A, SLC12A3, TRPV6, TRPV5, TRPC5

Molecular functions related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel inhibitor activityGO:0198699.6WNK4, WNK1
2calcium channel activityGO:0052629.0TRPC5, TRPV5, TRPV6
3protein bindingGO:0055157.1CUL3, WNK1, WNK4, SLC12A3, TRPV6, TRPV5

Products for genes affiliated with Pseudohypoaldosteronism Type Ii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudohypoaldosteronism Type Ii

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet