Pseudohypoaldosteronism, Type Iie malady
Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases
Aliases & Descriptions for Pseudohypoaldosteronism, Type Iie:
Orphanet epidemiological data:52
pseudohypoaldosteronism type 2:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: adult
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)
pseudohypoaldosteronism, type iie:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases, Nephrological diseases
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
Symptoms by clinical synopsis from OMIM:614496
Clinical features from OMIM:614496
Symptoms:52 (show all 9)
HPO human phenotypes related to Pseudohypoaldosteronism, Type Iie:(show all 12)
MalaCards organs/tissues related to Pseudohypoaldosteronism, Type Iie:34
UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism, Type Iie:68
Clinvar genetic disease variations for Pseudohypoaldosteronism, Type Iie:5
Search GEO for disease gene expression data for Pseudohypoaldosteronism, Type Iie.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet