eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| achromatopsia | ||||
| Disease ID | 473 |
|---|---|
| Disease | achromatopsia |
| Definition | An autosomal recessive genetic disorder affecting the cone cells of the eye. It may be complete, in which the individual can only perceive black, white, or shades or gray, or incomplete, in which the individual has a residual amount of color vision. |
| Synonym | achromatism achromatopsia (disorder) complete achromatopsia complete color blindness complete colour blindness monochromacy monochromatism total color blindness total colour blindness |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0152200 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:55) 24 | ABCA4 | 2.465 | DISEASES 8754 | ADAM9 | 1.636 | DISEASES 23746 | AIPL1 | 2.782 | DISEASES 91056 | AP5B1 | 1.581 | DISEASES 60489 | APOBEC3G | 2.682 | DISEASES 22926 | ATF6 | 2.93 | DISEASES 6314 | ATXN7 | 1.157 | DISEASES 7439 | BEST1 | 1.119 | DISEASES 388939 | C2orf71 | 2.832 | DISEASES 286257 | C9orf142 | 3.401 | DISEASES 778 | CACNA1F | 3.056 | DISEASES 93589 | CACNA2D4 | 2.704 | DISEASES 1038 | CDR1 | 1.384 | DISEASES 1121 | CHM | 1.514 | DISEASES 1259 | CNGA1 | 2.71 | DISEASES 26504 | CNNM4 | 4.158 | DISEASES 1270 | CNTF | 3.196 | DISEASES 23418 | CRB1 | 1.46 | DISEASES 1394 | CRHR1 | 1.005 | DISEASES 1734 | DIO2 | 1.465 | DISEASES 1735 | DIO3 | 2.073 | DISEASES 2021 | ENDOG | 1.677 | DISEASES 2296 | FOXC1 | 1.261 | DISEASES 23464 | GCAT | 2.588 | DISEASES 9573 | GDF3 | 2.153 | DISEASES 2804 | GOLGB1 | 2.547 | DISEASES 6011 | GRK1 | 1.955 | DISEASES 3274 | HRH2 | 1.855 | DISEASES 169522 | KCNV2 | 2.424 | DISEASES 10161 | LPAR6 | 2.566 | DISEASES 83552 | MFRP | 1.782 | DISEASES 4538 | MT-ND4 | 1.614 | DISEASES 4625 | MYH7 | 1.165 | DISEASES 4647 | MYO7A | 1.436 | DISEASES 114548 | NLRP3 | 1.155 | DISEASES 64802 | NMNAT1 | 2.278 | DISEASES 4901 | NRL | 4.058 | DISEASES 93034 | NT5C1B | 2.211 | DISEASES 60506 | NYX | 3.413 | DISEASES 5956 | OPN1LW | 5.402 | DISEASES 2652 | OPN1MW | 5.472 | DISEASES 94233 | OPN4 | 1.6 | DISEASES 5080 | PAX6 | 2.809 | DISEASES 5158 | PDE6B | 2.062 | DISEASES 5146 | PDE6C | 6.34 | DISEASES 9600 | PITPNM1 | 2.07 | DISEASES 343035 | RD3 | 1.972 | DISEASES 57096 | RPGRIP1 | 1.794 | DISEASES 6247 | RS1 | 1.736 | DISEASES 25769 | SLC24A2 | 3.193 | DISEASES 6658 | SOX3 | 1.809 | DISEASES 1527 | TEX28 | 3.476 | DISEASES 728447 | TEX28P1 | 2.978 | DISEASES 653363 | TEX28P2 | 2.961 | DISEASES 7499 | XG | 2.441 | DISEASES |
| Locus | Symbol | Locus(Total Locus:7) |
| Disease ID | 473 |
|---|---|
| Disease | achromatopsia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0007793 | Granular macular appearance HP:0012043 | Pendular nystagmus HP:0007722 | Loss of retinal pigment epithelium HP:0000505 | Visual impairment HP:0000577 | Exotropia HP:0007641 | Dyschromatopsia HP:0000613 | Photophobia HP:0000603 | Central scotoma HP:0007803 | Monochromacy HP:0007843 | Attenuation of retinal blood vessels HP:0000540 | Hypermetropia HP:0007939 | Blue cone monochromacy HP:0000512 | Abnormal electroretinogram HP:0007750 | Hypoplasia of the fovea |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 473 |
|---|---|
| Disease | achromatopsia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893621 | 16961972 | 1261 | CNGA3 | umls:C0152200 | BeFree | Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. | 0.127328931 | 2006 | CNGA3 | 2 | 98396476 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007939 | Blue cone monochromacy | MP:0008446 | decreased retinal cone cell number | reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment |
| HP:0007843 | Attenuation of retinal blood vessels | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0007722 | Retinal pigment epithelial atrophy | MP:0005548 | retinal pigment epithelium atrophy | acquired diminution of the size of the epithelial layer of the retina composed of cells containing pigment granules, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, i |
| HP:0007750 | Hypoplasia of the fovea | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012043 | Pendular nystagmus | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000577 | Exotropia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0007803 | Monochromacy | MP:0013129 | abnormal tooth color | anomaly in the color and shading of the teeth, which normally present in shades of white |
| HP:0000540 | Hypermetropia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0007641 | Dyschromatopsia | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0007939 | Blue cone monochromacy | MP:0008587 | short photoreceptor outer segment | decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000512 | Abnormal electroretinogram | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007722 | Retinal pigment epithelial atrophy | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007750 | Hypoplasia of the fovea | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0007793 | Granular macular appearance | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0007843 | Attenuation of retinal blood vessels | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000603 | Central scotoma | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| Disease ID | 473 |
|---|---|
| Disease | achromatopsia |
| Case | (Waiting for update.) |