ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
34 signs/symptoms

Pseudohypoaldosteronism type 2E

Craniolenticulosutural dysplasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	SEC23A

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Craniolenticulosutural dysplasia
	Synonym(s): - PHA2E		Synonym(s): - Boyadjiev-Jabs syndrome

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare bone disease - 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: autosomal recessive

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

Craniolenticulosutural dysplasia
	Very frequent - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Autosomal recessive inheritance - Brittle hair / distrix / trichorrhexis - Broad nose / nasal bridge - Cataract / lens opacification - Coarse / thick hair - Complete / partial microdontia - Delayed dentition / eruption of teeth / lack of eruption of teeth - Frontal bossing / prominent forehead - High nasal bridge - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Large fontanelle / delayed fontanelle closure - Long philtrum - Macrostomia / big mouth - Multiple caries - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Philtrum flat / large / featureless / absent cupidon bows - Poorly ossified skull / calvarium - Prominent supraorbital ridge - Scoliosis - Short stature / dwarfism / nanism - Thin / retracted lips Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Flat foot - Narrow rib cage / thorax - Narrow / sloping shoulders - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
Pseudohypoaldosteronism type 2E
(no data available)