MCID: PSD092
MIFTS: 33

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 50 12 66
Pseudohypoaldosteronism Type 2 22 46 23 24 52
Phaii 22 23 24 52
Pha2 22 46 23 52
Gordon Hyperkalemia-Hypertension Syndrome 46 24 52
Pseudohypoaldosteronism Type Ii 22 23 24
Familial Hyperkalemic Hypertension 24 52
Pseudohypoaldosteronism 2e 68 25
Chloride Shunt Syndrome 46 52
Gordon's Syndrome 24 25
Gordon Syndrome 46 23
Pha2e 52 68
Arthrogryposis Multiplex Congenita, Distal, Type Iia 66
Hyperkaliemia-Hypertension Syndrome, Gordon Type 52
Hyperpotassemia and Hypertension, Familial 66
Familial Hyperpotassemia and Hypertension 24
Camptodactyly, Cleft Palate, and Clubfoot 46
 
Hyperpotassemia and Hypertension Familial 46
Mineralocorticoid Resistant Hyperkalemia 52
Familial Hyperkalemia and Hypertension 23
Familial Hypertensive Hyperkalemia 24
Familial Hyperkalemiahypertension 22
Pseudohypoaldosteronism, Type Iid 66
Pseudohypoaldosteronism Type Iie 23
Pseudohypoaldosteronism, Type Ii 66
Pseudohypoaldosteronism Type 2e 52
Distal Arthrogryposis Type 3 46
Arthrogryposis Distal Type 3 46
Spitzer-Weinstein Syndrome 52
Hypertensive Hyperkalemia 52
Gordon’s Syndrome 22
Fhht 24
Da3 46

Characteristics:

Orphanet epidemiological data:

52
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:

62
pseudohypoaldosteronism, type iie:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 614496
ICD10 via Orphanet29 I15.1
UMLS via Orphanet67 C1449844
MedGen35 C3469606
MeSH37 D011546

Summaries for Pseudohypoaldosteronism, Type Iie

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NIH Rare Diseases:46 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, with nail dystrophy and hereditary motor-sensory neuropathy, 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.

Genetics Home Reference:24 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.

UniProtKB/Swiss-Prot:68 Pseudohypoaldosteronism 2E: An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics.

Description from OMIM:50 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:

 52 (show all 9)
  • abnormality of the teeth
  • abnormality of dental enamel
  • hypertension
  • muscle weakness
  • growth delay
  • nausea and vomiting
  • hyperkalemia
  • periodic paralysis
  • short stature

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 2e25
2 Pseudohypoaldosteronism, Type 225
3 Gordon's Syndrome25
4 Pseudohypoaldosteronism Type Ii23 WNK4
5 Pseudohypoaldosteronism Type Iie23 CUL3

Anatomical Context for Pseudohypoaldosteronism, Type Iie

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MalaCards organs/tissues related to Pseudohypoaldosteronism, Type Iie:

34
Kidney

Animal Models for Pseudohypoaldosteronism, Type Iie or affiliated genes

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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:

68
id Symbol AA change Variation ID SNP ID
1CUL3p.Asp413GlyVAR_067532rs199469656
2CUL3p.Lys459ArgVAR_067533rs199469658

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet