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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

Craniofrontonasal dysplasia

1 OMIM reference -
1 associated gene
42 signs/symptoms

Pseudohypoaldosteronism type 2E

Craniofrontonasal dysplasia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	EFNB1

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Craniofrontonasal dysplasia
	Synonym(s): - PHA2E		Synonym(s): - CFND - CFNS - Craniofrontonasal 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 - 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536456

Craniofrontonasal dysplasia
	Very frequent - Bifid tip / cleft nose / supernumerary nose - Brachycephaly / flat occiput - Broad nose / nasal bridge - Craniostenosis / craniosynostosis / sutural synostosis - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Flattened nose - Frontal bossing / prominent forehead - Hypertelorism Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal hair texture / hair dysplasia - Broad / bifid big toe - Camptodactyly of fingers - Clavicle absent / abnormal - Cleft lip and palate - Clinodactyly of fifth finger - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Excess nuchal skin without pterygium colli - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - High hair line (front) / widow peak - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low hair line (back) - Microcephaly - Narrow / sloping shoulders - Plagiocephaly - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Sensorineural deafness / hearing loss - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm - Upper limb polydactyly / hexadactyly - Wide space between 1st-2nd toes - Woolly / frizzy hair Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Diaphragmatic hernia / defect / agenesis - Hypoplastic / absent nipples - Hypospadias / epispadias / bent penis - Pectus excavatum - Shawl scrotum
Pseudohypoaldosteronism type 2E
(no data available)