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1 OMIM reference -
2 associated genes
7 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
No signs/symptoms info
Blue cone monochromatism
Acute necrotizing encephalopathy of childhood

OPN1LW CPT2
OPN1MW RANBP2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
OPN1LW
OPN1MW
(0.75)
(0.52)
RANBP2
RANBP2



Citations in the biomedical literature:


Blue cone monochromatism
OPN1LW OPN1MW
Acute necrotizing encephalopathy of childhood
CPT2 RANBP2



Blue cone monochromatism
Acute necrotizing encephalopathy of childhood

Synonym(s):
- Atypical X-linked achromatopsia
- Blue cone monochromacy
- Color blindness, blue monocone monochromatic type
- S cone monochromacy
- S cone monochromatism
- X-linked incomplete achromatopsia

Synonym(s):
- ANEC
- Isolated ANE
- Isolated acute necrotizing encephalopathy

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare infectious disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic

External references:
1 OMIM reference -
2 MeSH references: C536238 / C538165
External references:
1 OMIM reference -
No MeSH references

Blue cone monochromatism

Occasional
- Abnormal ERG / electroretinogram / electroretinography
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Corneal dystrophy
- Mild visual loss / impaired visual acuity
- Photophobia
- Retinitis pigmentosa / retinal pigmentary changes
- X-linked recessive inheritance


Acute necrotizing encephalopathy of childhood

(no data available)