Details of Disease

General Information of Disease (ID: DISKL51I)

Disease Name	Achromatopsia
Synonyms	Pingelapese blindness; Rod monochromatism; achromatopsia; monochromatism; complete or incomplete color blindness; total color blindness; complete or incomplete colour blindness; Rod monochromacy; total colour blindness; ACHM
Disease Class	9B70: Inherited retinal dystrophy
Definition	Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.\|Editor note: we include incomplete forms here, such as BCM
Disease Hierarchy	DIS9VL93: Color vision disorder DISB4B0F: Retinopathy DISKL51I: Achromatopsia
ICD Code	ICD-11 ICD-11: 9B70 ICD-10 ICD-10: H53.51
Disease Identifiers	MONDO ID MONDO_0018852 MESH ID D003117 UMLS CUI C0152200 MedGen ID 57751 HPO ID HP:0011516 Orphanet ID 49382 SNOMED CT ID 56852002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 4 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AAV-CNGA3	DMNZJAE	Phase 1/2	Gene therapy	[1]
AAV-CNGB3	DM0CJAN	Phase 1/2	Gene therapy	[2]
ACHM-CNGA3	DMIRGTZ	Phase 1/2	Gene therapy	[3]
ACHM-CNGB3	DMC4ZQD	Phase 1/2	Gene therapy	[3]
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This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AAV8-773	DMEIZDN	Investigative	NA	[4]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CNGA3	TTW0QOV	Supportive	Autosomal recessive	[5]
CNGB3	TT0LJCG	Supportive	Autosomal recessive	[5]
CACNA1F	TTJ0SO4	Strong	Genetic Variation	[6]
CNTF	TTGEM5Q	Strong	Biomarker	[7]
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This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CABP4	OTL0TRR5	Limited	CausalMutation	[8]
CNGA3	OTYQ7TYM	Supportive	Autosomal recessive	[5]
CNGB3	OTGR3KO5	Supportive	Autosomal recessive	[5]
GNAT2	OTD9Y4UH	Supportive	Autosomal recessive	[9]
PDE6C	OTE7EVWQ	Supportive	Autosomal recessive	[10]
PDE6H	OTMLRB1D	Supportive	Autosomal recessive	[5]
ATF6	OTAFHAVI	Strong	Autosomal recessive	[11]
CC2D2A	OTFGRGFR	Strong	Genetic Variation	[12]
CRB1	OTXYUNG0	Strong	Genetic Variation	[6]
FRMD7	OTJ11849	Strong	Genetic Variation	[13]
NOC2L	OTNT7R33	Strong	Biomarker	[14]
NR2E3	OTO3GBHQ	Strong	Genetic Variation	[6]
NYX	OTAGXLYP	Strong	Genetic Variation	[6]
POC1B	OTDIMIRZ	Strong	Genetic Variation	[15]
CNNM4	OTUXJRM1	Definitive	Genetic Variation	[16]
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⏷ Show the Full List of 15 DOT(s)

References

1	ClinicalTrials.gov (NCT03758404) Gene Therapy for Achromatopsia (CNGA3) (CNGA3). U.S. National Institutes of Health.
2	Clinical pipeline report, company report or official report of MeiraGTx.
3	Clinical pipeline report, company report or official report of Applied Genetic Technologies.
4	The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
5	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
6	Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).Ophthalmic Genet. 2002 Jun;23(2):71-97. doi: 10.1076/opge.23.2.71.2214.
7	Achromatopsia: a review.Curr Opin Ophthalmol. 2015 Jul;26(5):333-40. doi: 10.1097/ICU.0000000000000189.
8	Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.
9	Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002 Aug;71(2):422-5. doi: 10.1086/341835. Epub 2002 Jun 20.
10	Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. Epub 2009 Jul 16.
11	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
12	Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.Clin Genet. 2019 Feb;95(2):329-333. doi: 10.1111/cge.13453. Epub 2018 Nov 4.
13	Foveal development and nystagmus.Ann N Y Acad Sci. 2011 Sep;1233:292-7. doi: 10.1111/j.1749-6632.2011.06174.x.
14	Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.Sci Rep. 2018 Apr 4;8(1):5665. doi: 10.1038/s41598-018-23919-w.
15	Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.Ophthalmic Genet. 2018 Apr;39(2):255-262. doi: 10.1080/13816810.2017.1408846. Epub 2017 Dec 8.
16	Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.Eye (Lond). 2010 Nov;24(11):1659-68. doi: 10.1038/eye.2010.103. Epub 2010 Aug 13.