MCID: PSD092
MIFTS: 34

Pseudohypoaldosteronism, Type Iie malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases

Aliases & Classifications for Pseudohypoaldosteronism, Type Iie

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Aliases & Descriptions for Pseudohypoaldosteronism, Type Iie:

Name: Pseudohypoaldosteronism, Type Iie 49 11 65
Pseudohypoaldosteronism Type 2 21 45 22 23 51
Phaii 21 22 23 51
Pha2 21 45 22 51
Gordon Hyperkalemia-Hypertension Syndrome 45 23 51
Pseudohypoaldosteronism Type Ii 21 22 23
Familial Hyperkalemic Hypertension 23 51
Pseudohypoaldosteronism 2e 67 24
Chloride Shunt Syndrome 45 51
Gordon's Syndrome 23 24
Gordon Syndrome 45 22
Pha2e 51 67
Arthrogryposis Multiplex Congenita, Distal, Type Iia 65
Arthrogryposis Multiplex Congenita Distal Type 2a 45
Hyperkaliemia-Hypertension Syndrome, Gordon Type 51
Hyperpotassemia and Hypertension, Familial 65
Camptodactyly, Cleft Palate, and Clubfoot 45
 
Hyperpotassemia and Hypertension Familial 45
Familial Hyperpotassemia and Hypertension 23
Mineralocorticoid Resistant Hyperkalemia 51
Familial Hyperkalemia and Hypertension 22
Familial Hypertensive Hyperkalemia 23
Familial Hyperkalemiahypertension 21
Pseudohypoaldosteronism, Type Iid 65
Pseudohypoaldosteronism, Type Ii 65
Pseudohypoaldosteronism Type Iie 22
Pseudohypoaldosteronism Type 2e 51
Distal Arthrogryposis Type 3 45
Arthrogryposis Distal Type 3 45
Spitzer-Weinstein Syndrome 51
Hypertensive Hyperkalemia 51
Gordon’s Syndrome 21
Fhht 23
Da3 45

Characteristics:

Orphanet epidemiological data:

51
pseudohypoaldosteronism type 2:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: adult
pha2e:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

61
pseudohypoaldosteronism, type iie:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 614496
Orphanet51 757, 300530
ICD10 via Orphanet28 I15.1
UMLS via Orphanet66 C1449844
MedGen34 C3469606
MeSH36 D011546
UMLS65 C1449844, C0220666, C3469605 C2713447, C3469606, more

Summaries for Pseudohypoaldosteronism, Type Iie

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NIH Rare Diseases:45 Gordon syndrome is a rare, inherited type of distal arthrogryposis 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 dominant manner. the exact cause remains unknown. last updated: 12/5/2012

MalaCards based summary: Pseudohypoaldosteronism, Type Iie, also known as pseudohypoaldosteronism type 2, is related to arthrogryposis, distal, type 3 and keratoderma palmoplantar spastic paralysis, and has symptoms including hypertension, hyperkalemia and flexion contracture. An important gene associated with Pseudohypoaldosteronism, Type Iie is CUL3 (Cullin 3). Affiliated tissues include kidney and heart.

UniProtKB/Swiss-Prot:67 Pseudohypoaldosteronism 2E: An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics.

Genetics Home Reference:23 Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of 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:49 614496

GeneReviews summary for NBK65707

Related Diseases for Pseudohypoaldosteronism, Type Iie

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Graphical network of diseases related to Pseudohypoaldosteronism, Type Iie:



Diseases related to pseudohypoaldosteronism, type iie

Symptoms for Pseudohypoaldosteronism, Type Iie

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Symptoms by clinical synopsis from OMIM:

614496

Clinical features from OMIM:

614496

Symptoms:

 51 (show all 10)
  • chronic arterial hypertension
  • hyperkalemia
  • autosomal dominant inheritance
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • anomalies of teeth and dentition
  • enamel anomaly
  • muscle weakness/flaccidity
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Pseudohypoaldosteronism, Type Iie:

(show all 12)
id Description Frequency HPO Source Accession
1 hypertension hallmark (90%) HP:0000822
2 hyperkalemia hallmark (90%) HP:0002153
3 flexion contracture typical (50%) HP:0001371
4 nausea and vomiting typical (50%) HP:0002017
5 abnormality of dental enamel occasional (7.5%) HP:0000682
6 muscle weakness occasional (7.5%) HP:0001324
7 short stature occasional (7.5%) HP:0004322
8 hypertension HP:0000822
9 metabolic acidosis HP:0001942
10 hyperkalemia HP:0002153
11 pseudohypoaldosteronism HP:0008242
12 hyperchloremia HP:0011423

Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iie

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP)RecruitingNCT01238250

Search NIH Clinical Center for Pseudohypoaldosteronism, Type Iie

Genetic Tests for Pseudohypoaldosteronism, Type Iie

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Genetic tests related to Pseudohypoaldosteronism, Type Iie:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type Ii22 WNK4
2 Pseudohypoaldosteronism Type Iie22 CUL3

Anatomical Context for Pseudohypoaldosteronism, Type Iie

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MalaCards organs/tissues related to Pseudohypoaldosteronism, Type Iie:

33
Kidney, Heart

Animal Models for Pseudohypoaldosteronism, Type Iie or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoaldosteronism, Type Iie:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Pseudohypoaldosteronism, Type Iie

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Variations for Pseudohypoaldosteronism, Type Iie

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UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism, Type Iie:

67
id Symbol AA change Variation ID SNP ID
1CUL3p.Asp413GlyVAR_067532
2CUL3p.Lys459ArgVAR_067533

Clinvar genetic disease variations for Pseudohypoaldosteronism, Type Iie:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CUL3CUL3, IVS8, A-G, -26single nucleotide variantPathogenic
2CUL3CUL3, IVS8, T-G, -28single nucleotide variantPathogenic
3CUL3CUL3, IVS8, T-G, -12single nucleotide variantPathogenic
4CUL3CUL3, IVS8, T-A, -5single nucleotide variantPathogenic
5CUL3CUL3, IVS8, C-T, -3single nucleotide variantPathogenic
6CUL3CUL3, IVS8, G-A, -1single nucleotide variantPathogenic
7CUL3NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly)single nucleotide variantPathogenicrs199469656GRCh37Chr 2, 225368508: 225368508

Expression for genes affiliated with Pseudohypoaldosteronism, Type Iie

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Search GEO for disease gene expression data for Pseudohypoaldosteronism, Type Iie.

Pathways for genes affiliated with Pseudohypoaldosteronism, Type Iie

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GO Terms for genes affiliated with Pseudohypoaldosteronism, Type Iie

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Sources for Pseudohypoaldosteronism, Type Iie

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet