Cytoscape Web
Click node...


1 OMIM reference -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Peters anomaly
Autosomal recessive axonal neuropathy with neuromyotonia

CYP1B1 HINT1
FOXC1
HDAC9
PAX6
PITX2
TGFB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HDAC9
(0.63)
HINT1



Citations in the biomedical literature:


Peters anomaly
CYP1B1 FOXC1 HDAC9 PAX6 PITX2 TGFB2

Autosomal recessive axonal neuropathy with neuromyotonia
HINT1



Peters anomaly
Autosomal recessive axonal neuropathy with neuromyotonia

Synonym(s):
- Peters congenital glaucoma

Synonym(s):
- ARAN-NM
- ARCMT2-NM
- Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia

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

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

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: childhood
Average age of death: -
Type of inheritance: autosomal 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


Autosomal recessive axonal neuropathy with neuromyotonia

(no data available)