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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
30 signs/symptoms

Pseudohypoaldosteronism type 2E

Nager syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	SF3B4

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Nager syndrome
	Synonym(s): - PHA2E		Synonym(s): - Mandibulofacial dysostosis with preaxial limb anomalies - NAFD - Nager acrofacial dysostosis - Preaxial acrodysostosis

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538184

Nager syndrome
	Very frequent - Autosomal dominant inheritance - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat cheek bones / malar hypoplasia - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Micrognathia / retrognathia / micrognathism / retrognathism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thumb hypoplasia / aplasia / absence Frequent - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Coloboma of the eyelid - External auditory canal atresia / stenosis / agenesis - Long / large / bulbous nose - Macrostomia / big mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Palate anomalies - Ptosis - Radioulnar synostosis - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis Occasional - Agenesis / hypoplasia / aplasia of kidneys - Congenital cardiac anomaly / malformation / cardiopathy - Fingerlike / triphalangeal thumb - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Low set ears / posteriorly rotated ears - Lower limb segmental anomalies - Phocomelia
Pseudohypoaldosteronism type 2E
(no data available)