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Pseudohypoaldosteronism type 2E
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Sjögren-Larsson syndrome
1 OMIM reference -
1 associated gene
29 signs/symptoms
Pseudohypoaldosteronism type 2E
Sjögren-Larsson syndrome

CUL3
(UniProt - OMIM)
 ALDH3A2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CUL3
(0.63)
ALDH3A2


Citations in the biomedical literature:


Pseudohypoaldosteronism type 2E
CUL3
Sjögren-Larsson syndrome
ALDH3A2



Pseudohypoaldosteronism type 2E
Sjögren-Larsson syndrome

Synonym(s):
- PHA2E
Synonym(s):
- Fatty acid alcohol oxidoreductase deficiency
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D016111
Sjögren-Larsson syndrome

Very frequent
- Autosomal recessive inheritance
- Dry / squaly skin / exfoliation
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypertonia / spasticity / rigidity / stiffness
- Ichthyosis / ichthyosiform dermatitis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Pyramidal syndrome

Frequent
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Corneal ulceration / perforation
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Elocution disorders / dysarthria / dysphonia
- Macular dystrophy / absence / hypoplasia of the macula
- Myopia
- Photophobia
- Retinitis pigmentosa / retinal pigmentary changes
- Retinopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Enamel anomaly
- Hypotonia
- Microcephaly
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Short stature / dwarfism / nanism
- Urticaria


Pseudohypoaldosteronism type 2E

(no data available)