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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
6 associated genes
12 signs/symptoms
Pseudohypoaldosteronism type 2C
Peters anomaly

WNK1 CYP1B1
FOXC1
HDAC9
PAX6
PITX2
TGFB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WNK1
(0.49)
HDAC9



Citations in the biomedical literature:


Pseudohypoaldosteronism type 2C
WNK1
Peters anomaly
CYP1B1 FOXC1 HDAC9 PAX6 PITX2 TGFB2



Pseudohypoaldosteronism type 2C
Peters anomaly

Synonym(s):
- PHA2C

Synonym(s):
- Peters congenital glaucoma

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537884

Peters anomaly

Very frequent
- Anomalies of eyes and vision
- Autosomal recessive inheritance
- Microcornea

Frequent
- Corneal dystrophy

Occasional
- Anomalies of teeth and dentition
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Dental malocclusion
- Hypoplastic mandibula / partial absence of the mandibula
- Nystagmus


Pseudohypoaldosteronism type 2C

(no data available)