OCMD
MCID: OCC002
MIFTS: 46

Occult Macular Dystrophy (OCMD)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Occult Macular Dystrophy

MalaCards integrated aliases for Occult Macular Dystrophy:

Name: Occult Macular Dystrophy 57 12 58 72 36 29 13 6 15 70
Ocmd 57 58 72
Omd 57 58 72
Dystrophy, Macular, Occult 39

Characteristics:

Orphanet epidemiological data:

58
occult macular dystrophy
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset, from 6 to 50 years of age
progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)


HPO:

31
occult macular dystrophy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050578
OMIM® 57 613587
KEGG 36 H01010
MeSH 44 D008268
ICD10 via Orphanet 33 H35.5
Orphanet 58 ORPHA247834
MedGen 41 C3150833
SNOMED-CT via HPO 68 263681008
UMLS 70 C3150833

Summaries for Occult Macular Dystrophy

KEGG : 36 Occult macular dystrophy (OMD) is an inherited or sporadic macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Patients with OMD have normal full-field electroretinograms (ERGs), but the focal macular ERGs (FMERGs) and multifocal ERGs are abnormal. OMD is inherited as an autosomal dominant trait. However, patients with sporadic disease have been also reported. Mutations in RP1L1 gene, which plays essential roles in the cone functions, are responsible for OMD.

MalaCards based summary : Occult Macular Dystrophy, also known as ocmd, is related to retinitis pigmentosa 1 and retinitis. An important gene associated with Occult Macular Dystrophy is RP1L1 (RP1 Like 1), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, eye and cortex, and related phenotypes are macular dystrophy and slow decrease in visual acuity

Disease Ontology : 12 A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.

OMIM® : 57 Occult macular dystrophy is characterized by progressive decline of visual acuity in both eyes, associated with a normal fundus and normal fluorescein angiography. Patients have normal full-field electroretinograms (ERGs) but severely reduced focal macular ERGs, as recorded by conventional techniques using small stimuli under background illumination. OCMD patients are believed to have localized retinal dysfunction distal to the ganglion cells in the central retina (summary by Piao et al., 2000). (613587) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Occult macular dystrophy: An inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina.

Wikipedia : 73 Occult macular dystrophy (OMD) is a rare inherited degradation of the retina, characterized by... more...

Related Diseases for Occult Macular Dystrophy

Diseases related to Occult Macular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 1 30.4 RP1L1 RHO PRPH2
2 retinitis 30.2 RP1L1 RHO PRPH2 ABCA4
3 scotoma 29.6 RHO KCNV2 GUCY2D CNGB3 ABCA4
4 retinal degeneration 29.4 RHO PRPH2 PCARE GUCY2D ABCA4
5 stargardt disease 1 29.0 RHO PRPH2 KCNV2 CNGB3 ABCA4
6 retinal disease 28.7 RHO PRPH2 IMPG2 GUCY2D CNGB3 ABCA4
7 cone dystrophy 28.6 RP1L1 RHO PRPH2 KCNV2 GUCY2D CNGB3
8 eye disease 28.4 RHO PRPH2 IMPG2 GUCY2D CNGB3 ABCA4
9 retinitis pigmentosa 28.1 RP1L1 RHO PRPH2 PCARE KCNV2 IMPG2
10 stargardt disease 27.8 RP1L1 RHO PRPH2 PCARE KCNV2 IMPG2
11 lymphatic malformation 5 10.9
12 osteogenesis imperfecta, type xii 10.9
13 frontometaphyseal dysplasia 10.9
14 anthracosilicosis 10.9
15 bladder carcinoma in situ 10.9
16 neuroretinitis 10.4
17 retinitis pigmentosa 74 10.2 RP1L1 PCARE
18 retinitis pigmentosa 55 10.2 RP1L1 PCARE
19 retinitis pigmentosa 62 10.2 RP1L1 PCARE
20 retinitis pigmentosa 51 10.2 RP1L1 PCARE
21 macular dystrophy, dominant cystoid 10.2 RHO ABCA4
22 retinitis pigmentosa 31 10.2 RP1L1 PCARE
23 retinitis pigmentosa 54 10.2 RP1L1 PCARE
24 suppression amblyopia 10.1
25 amblyopia 10.1
26 colorblindness, partial, protan series 10.1 RHO CNGB3
27 pigmented paravenous chorioretinal atrophy 10.1 GUCY2D ABCA4
28 cone dystrophy 3 10.1 RHO KCNV2
29 pattern dystrophy 10.1 RHO PRPH2
30 stargardt macular degeneration 10.1 PRPH2 ABCA4
31 cone-rod dystrophy 8 10.0 GUCY2D CNGB3
32 cone-rod dystrophy 9 10.0 GUCY2D CNGB3
33 cone-rod dystrophy 16 10.0 RP1L1 PCARE
34 cone-rod dystrophy 3 10.0 GUCY2D ABCA4
35 yemenite deaf-blind hypopigmentation syndrome 10.0 RHO GUCY2D ABCA4
36 achromatopsia 3 10.0 GUCY2D CNGB3
37 spinocerebellar ataxia 7 10.0
38 retinal detachment 10.0
39 ataxia and polyneuropathy, adult-onset 10.0
40 intraocular pressure quantitative trait locus 10.0
41 microvascular complications of diabetes 5 10.0
42 retinitis pigmentosa 88 10.0
43 ifap syndrome 2 10.0
44 presbyopia 10.0
45 autosomal dominant cerebellar ataxia 10.0
46 foster-kennedy syndrome 10.0
47 optic nerve disease 10.0
48 rare macular disorder 10.0
49 newfoundland rod-cone dystrophy 10.0 RHO PRPH2
50 isolated macular dystrophy 10.0 PRPH2 ABCA4

Graphical network of the top 20 diseases related to Occult Macular Dystrophy:



Diseases related to Occult Macular Dystrophy

Symptoms & Phenotypes for Occult Macular Dystrophy

Human phenotypes related to Occult Macular Dystrophy:

31
# Description HPO Frequency HPO Source Accession
1 macular dystrophy 31 hallmark (90%) HP:0007754
2 slow decrease in visual acuity 31 HP:0007924
3 abnormal multifocal electroretinogram 31 HP:0030468

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
decreased visual acuity, slowly progressive
normal fundus on ophthalmoscopy
normal full-field electroretinogram
severely reduced focal macular electroretinogram

Clinical features from OMIM®:

613587 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Occult Macular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.81 ABCA4 CNGB3 GUCY2D IMPG2 KCNV2 PCARE
2 vision/eye MP:0005391 9.28 ABCA4 CNGB3 GUCY2D IMPG2 KCNV2 PCARE
3 pigmentation MP:0001186 9.26 ABCA4 PCARE PRPH2 RHO

Drugs & Therapeutics for Occult Macular Dystrophy

Search Clinical Trials , NIH Clinical Center for Occult Macular Dystrophy

Genetic Tests for Occult Macular Dystrophy

Genetic tests related to Occult Macular Dystrophy:

# Genetic test Affiliating Genes
1 Occult Macular Dystrophy 29 RP1L1

Anatomical Context for Occult Macular Dystrophy

MalaCards organs/tissues related to Occult Macular Dystrophy:

40
Retina, Eye, Cortex

Publications for Occult Macular Dystrophy

Articles related to Occult Macular Dystrophy:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. 6 57 61
30025130 2018
2
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. 61 6 57
23281133 2013
3
Dominant mutations in RP1L1 are responsible for occult macular dystrophy. 6 57 61
20826268 2010
4
Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene. 57 61
22466457 2012
5
A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms. 57 61
22605915 2012
6
Analysis of spectral domain optical coherence tomography findings in occult macular dystrophy. 61 57
20560888 2011
7
Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography. 57 61
20164460 2010
8
Optical coherence tomography findings in occult macular dystrophy. 61 57
17317401 2007
9
Multifocal electroretinogram (mfERG) in a family with occult macular dystrophy (OMD). 61 57
12664360 2003
10
Multifocal electroretinogram in occult macular dystrophy. 61 57
10670483 2000
11
Occult macular dystrophy. 57 61
8909203 1996
12
Hereditary macular dystrophy without visible fundus abnormality. 57
2774037 1989
13
[New techniques for quantification of color vision in disorders of cone function : Cambridge color test and photoreceptor-specific temporal contrast sensitivity in patients with heterozygous RP1L1 and RPGR mutations]. 61
32458067 2021
14
Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2. 61
32707201 2021
15
A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region. 61
32940107 2020
16
RP1L1 and inherited photoreceptor disease: A review. 61
32360662 2020
17
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy. 61
32445700 2020
18
Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish. 61
33007938 2020
19
Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy. 61
32176261 2020
20
Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings. 61
31725168 2019
21
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1. 61
31028767 2019
22
Utility of en-face imaging in diagnosis of occult macular dystrophy with RP1L1 mutation: A case series. 61
31193770 2019
23
Spinocerebellar ataxia type 7 with RP1L1-negative occult macular dystrophy as retinal manifestation. 61
31269856 2019
24
CLINICAL FEATURES IN A CASE OF OCCULT MACULAR DYSTROPHY WITH RP1L1 MUTATION. 61
28195981 2019
25
Macular degeneration as a common cause of visual loss in spinocerebellar ataxia type 1 (SCA1) patients. 61
30729852 2019
26
Occult Macular Dystrophy. 61
30578492 2018
27
Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy. 61
29196766 2017
28
ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1. 61
28473427 2017
29
Multimodal Approaches for the Analysis of Retinal Functional Disorders―Focusing on Retinal Detachment. 61
30088405 2017
30
Structure-functional correlation using adaptive optics, OCT, and microperimetry in a case of occult macular dystrophy. 61
28591286 2017
31
OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES. 61
27579568 2017
32
Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family. 61
28890726 2017
33
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy. 61
27623337 2016
34
Occult Macular Dystrophy. 61
27800268 2016
35
Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene. 61
26782618 2016
36
Structural and functional evaluation of macula in a 9-year-old boy with occult macular dystrophy and his affected elder sibling. 61
27013831 2016
37
Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy. 61
26544792 2015
38
Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy. 61
25908487 2015
39
Occult macular dystrophy. 61
25665791 2015
40
Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P). 61
24838559 2014
41
Multimodal imaging and multifocal electroretinography demonstrate autosomal recessive Stargardt disease may present like occult macular dystrophy. 61
24743636 2014
42
Microperimetry in a case of occult macular dystrophy. 61
24093195 2013
43
Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene. 61
23619761 2013
44
Multimodal imaging of occult macular dystrophy. 61
24010148 2013
45
Clinical and genetic characteristics of Korean occult macular dystrophy patients. 61
23745001 2013
46
[Miyake's disease]. 61
23631221 2013
47
Analysis of macular cone photoreceptors in a case of occult macular dystrophy. 61
23696695 2013
48
Clinical features of retinal diseases masquerading as retrobulbar optic neuritis. 61
24033953 2013
49
Characterizing the phenotype and genotype of a family with occult macular dystrophy. 61
23229695 2012
50
Adaptive optics dioptric scanning ophthalmoscope with a wider field of view similar to those of normal ophthalmoscopes. 61
22743433 2012

Variations for Occult Macular Dystrophy

ClinVar genetic disease variations for Occult Macular Dystrophy:

6 (show top 50) (show all 443)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RP1L1 NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg) SNV Pathogenic 2194 rs267607018 GRCh37: 8:10468730-10468730
GRCh38: 8:10611220-10611220
2 RP1L1 NM_178857.6(RP1L1):c.3934_3935insAAGGGCTGCAA (p.Gly1312fs) Insertion Pathogenic 1031311 GRCh37: 8:10467673-10467674
GRCh38: 8:10610163-10610164
3 RP1L1 NM_178857.6(RP1L1):c.591C>G (p.Tyr197Ter) SNV Pathogenic 1031312 GRCh37: 8:10480121-10480121
GRCh38: 8:10622611-10622611
4 RP1L1 NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) SNV Pathogenic 865772 GRCh37: 8:10470501-10470501
GRCh38: 8:10612991-10612991
5 RP1L1 NM_178857.6(RP1L1):c.7203G>C (p.Ter2401Tyr) SNV Pathogenic 1032564 GRCh37: 8:10464405-10464405
GRCh38: 8:10606895-10606895
6 RP1L1 NM_178857.6(RP1L1):c.6418G>T (p.Glu2140Ter) SNV Pathogenic 1032563 GRCh37: 8:10465190-10465190
GRCh38: 8:10607680-10607680
7 RP1L1 NM_178857.6(RP1L1):c.6376C>T (p.Gln2126Ter) SNV Pathogenic 424025 rs1064796755 GRCh37: 8:10465232-10465232
GRCh38: 8:10607722-10607722
8 RP1L1 NM_178857.6(RP1L1):c.4021del (p.Thr1341fs) Deletion Pathogenic 1032562 GRCh37: 8:10467587-10467587
GRCh38: 8:10610077-10610077
9 RP1L1 NM_178857.6(RP1L1):c.379C>T (p.Gln127Ter) SNV Pathogenic 1032561 GRCh37: 8:10480333-10480333
GRCh38: 8:10622823-10622823
10 RP1L1 NM_178857.6(RP1L1):c.3413_3414del (p.Lys1138fs) Deletion Pathogenic 866349 GRCh37: 8:10468194-10468195
GRCh38: 8:10610684-10610685
11 RP1L1 NM_178857.6(RP1L1):c.5033del (p.Ala1678fs) Deletion Likely pathogenic 992970 GRCh37: 8:10466575-10466575
GRCh38: 8:10609065-10609065
12 RP1L1 NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) SNV Conflicting interpretations of pathogenicity 425431 rs200846354 GRCh37: 8:10465649-10465649
GRCh38: 8:10608139-10608139
13 RP1L1 NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) SNV Conflicting interpretations of pathogenicity 361237 rs201017122 GRCh37: 8:10465787-10465787
GRCh38: 8:10608277-10608277
14 RP1L1 NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) Insertion Conflicting interpretations of pathogenicity 225460 rs138816053 GRCh37: 8:10480387-10480388
GRCh38: 8:10622877-10622878
15 RP1L1 NM_178857.6(RP1L1):c.568C>A (p.Arg190Ser) SNV Uncertain significance 361403 rs202110498 GRCh37: 8:10480144-10480144
GRCh38: 8:10622634-10622634
16 RP1L1 NM_178857.6(RP1L1):c.3956delinsGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGAG (p.Ala1319delinsGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluArg) Insertion Uncertain significance 361299 rs886062580 GRCh37: 8:10467652-10467652
GRCh38: 8:10610142-10610142
17 RP1L1 NM_178857.6(RP1L1):c.2413C>G (p.Pro805Ala) SNV Uncertain significance 361345 rs753260358 GRCh37: 8:10469195-10469195
GRCh38: 8:10611685-10611685
18 RP1L1 NM_178857.6(RP1L1):c.3304G>C (p.Glu1102Gln) SNV Uncertain significance 361313 rs575772322 GRCh37: 8:10468304-10468304
GRCh38: 8:10610794-10610794
19 RP1L1 NM_178857.6(RP1L1):c.*307T>C SNV Uncertain significance 361192 rs146542491 GRCh37: 8:10464098-10464098
GRCh38: 8:10606588-10606588
20 RP1L1 NM_178857.6(RP1L1):c.-208C>A SNV Uncertain significance 361440 rs753924039 GRCh37: 8:10512596-10512596
GRCh38: 8:10655086-10655086
21 RP1L1 NM_178857.6(RP1L1):c.6522A>G (p.Gln2174=) SNV Uncertain significance 361221 rs780796353 GRCh37: 8:10465086-10465086
GRCh38: 8:10607576-10607576
22 RP1L1 NM_178857.6(RP1L1):c.4088_4090GAG[1] (p.Gly1364del) Microsatellite Uncertain significance 361285 rs886062578 GRCh37: 8:10467515-10467517
GRCh38: 8:10610005-10610007
23 RP1L1 NM_178857.6(RP1L1):c.3921A>G (p.Lys1307=) SNV Uncertain significance 361302 rs747175462 GRCh37: 8:10467687-10467687
GRCh38: 8:10610177-10610177
24 RP1L1 NM_178857.6(RP1L1):c.1821A>C (p.Thr607=) SNV Uncertain significance 361365 rs760134129 GRCh37: 8:10469787-10469787
GRCh38: 8:10612277-10612277
25 RP1L1 NM_178857.6(RP1L1):c.3664A>G (p.Thr1222Ala) SNV Uncertain significance 361305 rs886062582 GRCh37: 8:10467944-10467944
GRCh38: 8:10610434-10610434
26 RP1L1 NM_178857.6(RP1L1):c.3022C>G (p.Gln1008Glu) SNV Uncertain significance 361322 rs756996764 GRCh37: 8:10468586-10468586
GRCh38: 8:10611076-10611076
27 RP1L1 NM_178857.6(RP1L1):c.6597A>G (p.Pro2199=) SNV Uncertain significance 361218 rs886062575 GRCh37: 8:10465011-10465011
GRCh38: 8:10607501-10607501
28 RP1L1 NM_178857.6(RP1L1):c.4831C>G (p.Arg1611Gly) SNV Uncertain significance 361264 rs199604262 GRCh37: 8:10466777-10466777
GRCh38: 8:10609267-10609267
29 RP1L1 NM_178857.6(RP1L1):c.960C>T (p.Ser320=) SNV Uncertain significance 361388 rs756449748 GRCh37: 8:10470648-10470648
GRCh38: 8:10613138-10613138
30 RP1L1 NM_178857.6(RP1L1):c.-12A>C SNV Uncertain significance 361435 rs762179825 GRCh37: 8:10480723-10480723
GRCh38: 8:10623213-10623213
31 RP1L1 NM_178857.6(RP1L1):c.5600C>A (p.Ala1867Asp) SNV Uncertain significance 361247 rs886062577 GRCh37: 8:10466008-10466008
GRCh38: 8:10608498-10608498
32 RP1L1 NM_178857.6(RP1L1):c.3378G>A (p.Gln1126=) SNV Uncertain significance 361311 rs886062583 GRCh37: 8:10468230-10468230
GRCh38: 8:10610720-10610720
33 RP1L1 NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) SNV Uncertain significance 361297 rs4240659 GRCh37: 8:10467637-10467637
GRCh38: 8:10610127-10610127
34 RP1L1 NM_178857.6(RP1L1):c.1340G>C (p.Arg447Thr) SNV Uncertain significance 361377 rs771401456 GRCh37: 8:10470268-10470268
GRCh38: 8:10612758-10612758
35 RP1L1 NM_178857.6(RP1L1):c.3194C>T (p.Pro1065Leu) SNV Uncertain significance 361320 rs774639195 GRCh37: 8:10468414-10468414
GRCh38: 8:10610904-10610904
36 RP1L1 NM_178857.6(RP1L1):c.*99C>A SNV Uncertain significance 361199 rs886062573 GRCh37: 8:10464306-10464306
GRCh38: 8:10606796-10606796
37 RP1L1 NM_178857.6(RP1L1):c.6603A>T (p.Ala2201=) SNV Uncertain significance 361216 rs886062574 GRCh37: 8:10465005-10465005
GRCh38: 8:10607495-10607495
38 RP1L1 NM_178857.6(RP1L1):c.2915C>G (p.Thr972Arg) SNV Uncertain significance 361329 rs374466650 GRCh37: 8:10468693-10468693
GRCh38: 8:10611183-10611183
39 RP1L1 NM_178857.6(RP1L1):c.3836A>C (p.Asp1279Ala) SNV Uncertain significance 361303 rs886062581 GRCh37: 8:10467772-10467772
GRCh38: 8:10610262-10610262
40 RP1L1 NM_178857.6(RP1L1):c.1806G>C (p.Thr602=) SNV Uncertain significance 361366 rs374308509 GRCh37: 8:10469802-10469802
GRCh38: 8:10612292-10612292
41 RP1L1 NM_178857.6(RP1L1):c.428C>T (p.Ser143Phe) SNV Uncertain significance 361410 rs774003548 GRCh37: 8:10480284-10480284
GRCh38: 8:10622774-10622774
42 RP1L1 NM_178857.6(RP1L1):c.40C>G (p.Arg14Gly) SNV Uncertain significance 361430 rs765708710 GRCh37: 8:10480672-10480672
GRCh38: 8:10623162-10623162
43 RP1L1 NM_178857.6(RP1L1):c.3019G>A (p.Ala1007Thr) SNV Uncertain significance 361323 rs886062584 GRCh37: 8:10468589-10468589
GRCh38: 8:10611079-10611079
44 RP1L1 NM_178857.6(RP1L1):c.275C>T (p.Ala92Val) SNV Uncertain significance 361419 rs886062586 GRCh37: 8:10480437-10480437
GRCh38: 8:10622927-10622927
45 RP1L1 NM_178857.6(RP1L1):c.1436G>A (p.Gly479Glu) SNV Uncertain significance 361375 rs867863562 GRCh37: 8:10470172-10470172
GRCh38: 8:10612662-10612662
46 RP1L1 NM_178857.6(RP1L1):c.-49G>A SNV Uncertain significance 361436 rs189109596 GRCh37: 8:10512437-10512437
GRCh38: 8:10654927-10654927
47 RP1L1 NM_178857.6(RP1L1):c.2845C>T (p.Pro949Ser) SNV Uncertain significance 361332 rs754126350 GRCh37: 8:10468763-10468763
GRCh38: 8:10611253-10611253
48 RP1L1 NM_178857.6(RP1L1):c.*265G>T SNV Uncertain significance 361194 rs567494148 GRCh37: 8:10464140-10464140
GRCh38: 8:10606630-10606630
49 RP1L1 NM_178857.6(RP1L1):c.4027_4029del (p.Glu1343del) Deletion Uncertain significance 361289 rs143686100 GRCh37: 8:10467579-10467581
GRCh38: 8:10610069-10610071
50 RP1L1 NM_178857.6(RP1L1):c.675C>T (p.Phe225=) SNV Uncertain significance 361397 rs886062585 GRCh37: 8:10474032-10474032
GRCh38: 8:10616522-10616522

UniProtKB/Swiss-Prot genetic disease variations for Occult Macular Dystrophy:

72
# Symbol AA change Variation ID SNP ID
1 RP1L1 p.Arg45Trp VAR_065126 rs267607017
2 RP1L1 p.Trp960Arg VAR_065127 rs267607018

Expression for Occult Macular Dystrophy

Search GEO for disease gene expression data for Occult Macular Dystrophy.

Pathways for Occult Macular Dystrophy

GO Terms for Occult Macular Dystrophy

Cellular components related to Occult Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.63 RP1L1 RHO PRPH2 PCARE IMPG2 GUCY2D
2 photoreceptor inner segment GO:0001917 9.43 RHO PRPH2 PCARE
3 photoreceptor outer segment membrane GO:0042622 9.32 RHO GUCY2D
4 photoreceptor outer segment GO:0001750 9.17 RP1L1 RHO PRPH2 PCARE GUCY2D CNGB3
5 photoreceptor disc membrane GO:0097381 9.13 RHO GUCY2D ABCA4

Biological processes related to Occult Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 RP1L1 RHO PRPH2 PCARE GUCY2D CNGB3
2 retinoid metabolic process GO:0001523 9.43 RHO ABCA4
3 retina development in camera-type eye GO:0060041 9.43 RP1L1 RHO PRPH2
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.4 RHO GUCY2D
5 photoreceptor cell outer segment organization GO:0035845 9.37 PRPH2 PCARE
6 photoreceptor cell maintenance GO:0045494 9.33 RP1L1 RHO ABCA4
7 phototransduction, visible light GO:0007603 9.32 RHO ABCA4
8 visual perception GO:0007601 9.23 RP1L1 RHO PRPH2 PCARE IMPG2 GUCY2D

Sources for Occult Macular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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