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Pseudohypoaldosteronism type 2E
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
8p11.2 deletion syndrome
1 associated gene
34 signs/symptoms
Pseudohypoaldosteronism type 2E
8p11.2 deletion syndrome

CUL3
(UniProt - OMIM)
 ANK1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CUL3
(0.63)
ANK1


Citations in the biomedical literature:


Pseudohypoaldosteronism type 2E
CUL3
8p11.2 deletion syndrome
ANK1



Pseudohypoaldosteronism type 2E
8p11.2 deletion syndrome

Synonym(s):
- PHA2E
Synonym(s):
- Del(8)(p11.2)
- Monosomy 8p11.2
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
8p11.2 deletion syndrome

Very frequent
- Hemolytic anemia
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Micrognathia / retrognathia / micrognathism / retrognathism
- Micropenis / small penis / agenesis
- Red cell structure / shape anomalies
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Azoospermia / oligospermia / asthenospermia
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- External ear anomalies
- High vaulted / narrow palate
- Microcephaly
- Nystagmus

Occasional
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Coloboma of iris
- Depressed nasal bridge
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypertelorism
- Microcornea
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Retinal / chorioretinal dysplasia / dystrophy
- Rib number anomalies
- Sacral sinus / dimple
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly
- Talipes-varus / metatarsal varus
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures


Pseudohypoaldosteronism type 2E

(no data available)