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Achromatopsia
5 OMIM references -
6 associated genes
30 connected diseases
No signs/symptoms info
Disease Type of connection
Progressive cone dystrophy
Cone rod dystrophy
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
Retinitis pigmentosa
Stargardt disease
Leber congenital amaurosis
Cornelia de Lange syndrome
Meckel syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Joubert syndrome with orofaciodigital defect
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Early infantile epileptic encephalopathy
Senior-Loken syndrome
17p13.3 microduplication syndrome
Amyotrophic lateral sclerosis
Distal 17p13.3 microdeletion syndrome
Distal hereditary motor neuropathy type 7
Jeune syndrome
Miller-Dieker syndrome
Perry syndrome
Synonym(s):
- ACHM
- Complete or incomplete color blindness
- Pingelapese blindness
- Rod monochromacy
- Rod monochromatism
- Total color blindness
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
5 OMIM references -
No MeSH references
No signs/symptoms info available.