ODCs

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Pseudohypoaldosteronism type 2E

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Borjeson-Forssman-Lehmann syndrome

1 OMIM reference -
1 associated gene
35 signs/symptoms

Pseudohypoaldosteronism type 2E

Borjeson-Forssman-Lehmann syndrome

CUL3

(UniProt - OMIM)

PHF6

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	PHF6

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Borjeson-Forssman-Lehmann syndrome
	Synonym(s): - PHA2E		Synonym(s): - BFLS - Intelectual deficiency - epilepsy - endocrine disorders

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic 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: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536575

Borjeson-Forssman-Lehmann syndrome
	Very frequent - Broad foot - Coarse face - Decreased body hair / axillar / pubic hairlessness - Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Micropenis / small penis / agenesis - Short foot / brachydactyly of toes - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Tapered fingers - Thick / wide ear lobe - Truncal obesity - Undescended / ectopic testes / cryptorchidia / unfixed testes - X-linked recessive inheritance Frequent - Blepharophimosis / short palpebral fissures - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Prominent supraorbital ridge - Ptosis - Thick / bushy eyebrows Occasional - Cataract / lens opacification - Cleft lip and palate - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microcephaly - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Nystagmus - Peripheral neuropathy - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism
Pseudohypoaldosteronism type 2E
(no data available)