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1 OMIM reference -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Peters anomaly
Tietz syndrome

CYP1B1 MITF
FOXC1
HDAC9
PAX6
PITX2
TGFB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PAX6
(0.92)
MITF



Citations in the biomedical literature:


Peters anomaly
CYP1B1 FOXC1 HDAC9 PAX6 PITX2 TGFB2

Tietz syndrome
MITF



Peters anomaly
Tietz syndrome

Synonym(s):
- Peters congenital glaucoma

Synonym(s):
- Hypopigmentation-deafness syndrome

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(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
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C537884
External references:
1 OMIM reference -
1 MeSH reference: C536919

Peters anomaly
Tietz syndrome

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


Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent / decreased / thin eyebrows
- Anterior chamber anomaly
- Autosomal dominant inheritance
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Hearing loss / hypoacusia / deafness