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1 OMIM reference -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Peters anomaly
X-linked intellectual deficit with isolated growth hormone deficiency

CYP1B1 SOX3
FOXC1
HDAC9
PAX6
PITX2
TGFB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PAX6
(0.52)
SOX3



Citations in the biomedical literature:


Peters anomaly
CYP1B1 FOXC1 HDAC9 PAX6 PITX2 TGFB2

X-linked intellectual deficit with isolated growth hormone deficiency
SOX3



Peters anomaly
X-linked intellectual deficit with isolated growth hormone deficiency

Synonym(s):
- Peters congenital glaucoma

Synonym(s):
- MRGH

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
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 -
1 MeSH reference: C537884
External references:
1 OMIM reference -
No MeSH references

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


X-linked intellectual deficit with isolated growth hormone deficiency

(no data available)