Details of Disease

General Information of Disease (ID: DISH4N9B)

Disease Name	Choroideremia
Synonyms	TCD; Tapetochoroidal dystrophy, progressive; progressive tapetochoroidal dystrophy; choroidal sclerosis; Tapetochoroidal dystrophy; choroideremia; progressive choroidal atrophy; CHM
Disease Class	9B61: Choroidal dystrophy
Definition	Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
Disease Hierarchy	DIS1GZDX: Neurovascular disorder DISGGL77: Inherited retinal dystrophy DIS6C8BX: Optic choroid disorder DIS3PN9X: X-linked disease DISH4N9B: Choroideremia
ICD Code	ICD-11 ICD-11: 9B61
Disease Identifiers	MONDO ID MONDO_0010557 MESH ID D015794 UMLS CUI C0008525 OMIM ID 303100 MedGen ID 944 HPO ID HP:0001139 Orphanet ID 180 SNOMED CT ID 75241009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
BIIB111	DMQCE1T	Phase 3	Gene therapy	[1]
4D-110	DMUXAM8	Phase 1	Gene therapy	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RAB7A	TTF6WAQ	Limited	Biomarker	[3]
CHM	TTOA18V	Definitive	X-linked	[4]
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This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHML	OTW3VW8D	Limited	Biomarker	[5]
NOC2L	OTNT7R33	Limited	Biomarker	[6]
OPN4	OT1LZ7TS	Limited	Biomarker	[7]
POTEF	OTV3WXYE	Limited	Altered Expression	[8]
RAB27B	OTPF9D0K	Limited	Biomarker	[9]
RAB38	OTU0NZU0	Limited	Biomarker	[9]
RAB6A	OTLS86J5	Limited	Biomarker	[10]
RAB7B	OT60A0E9	Limited	Biomarker	[3]
RPE	OT0XT3JU	Limited	Biomarker	[6]
AGFG1	OTI8ZKC4	Strong	Biomarker	[5]
GDI1	OTYM3928	Strong	Genetic Variation	[11]
POU3F4	OTKF5AF7	Strong	Genetic Variation	[12]
RAB27A	OT9SQRWY	Strong	Biomarker	[9]
CHM	OTIEAN7F	Definitive	X-linked	[4]
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⏷ Show the Full List of 14 DOT(s)

References

1	ClinicalTrials.gov (NCT03496012) A Randomised, Open Label, Outcomes-Assessor Masked, Prospective, Parallel Controlled Group, Phase 3 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-Associated Viral Vector (AAV2) Encoding Rab Escort Protein 1 (REP1). U.S.National Institutes of Health.
2	ClinicalTrials.gov (NCT04483440) Phase 1 Open-Label, Dose-Escalation Study of the Safety, Tolerability and Preliminary Efficacy of Intravitreal 4D-110 in Patients With Choroideremia. U.S.National Institutes of Health.
3	Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease.Cell. 2004 Jun 11;117(6):749-60. doi: 10.1016/j.cell.2004.05.017.
4	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.
5	High expression of CHML predicts poor prognosis of multiple myeloma.J Cancer. 2019 Oct 15;10(24):6048-6056. doi: 10.7150/jca.34465. eCollection 2019.
6	Near-infrared autofluorescence in young choroideremia patients.Ophthalmic Genet. 2019 Oct;40(5):421-427. doi: 10.1080/13816810.2019.1666881. Epub 2019 Sep 21.
7	Choroideremia: melanopsin-mediated postillumination pupil relaxation is abnormally slow.Acta Ophthalmol. 2017 Dec;95(8):809-814. doi: 10.1111/aos.13394. Epub 2017 Mar 8.
8	Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatment.Stem Cell Res. 2018 Mar;27:140-150. doi: 10.1016/j.scr.2018.01.009. Epub 2018 Jan 28.
9	Rab GTPase prenylation hierarchy and its potential role in choroideremia disease.PLoS One. 2013 Dec 16;8(12):e81758. doi: 10.1371/journal.pone.0081758. eCollection 2013.
10	The Biological Activity of AAV Vectors for Choroideremia Gene Therapy Can Be Measured by InVitro Prenylation of RAB6A.Mol Ther Methods Clin Dev. 2018 Mar 28;9:288-295. doi: 10.1016/j.omtm.2018.03.009. eCollection 2018 Jun 15.
11	Rab GTPases, intracellular traffic and disease.Trends Mol Med. 2002 Jan;8(1):23-30. doi: 10.1016/s1471-4914(01)02227-4.
12	Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.Ophthalmic Genet. 2000 Sep;21(3):185-9.