eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| stargardt disease | ||||
| Disease ID | 769 |
|---|---|
| Disease | stargardt disease |
| Definition | An autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations in the ABCA4 or ELOVL4 genes respectively. It is characterized by macular degeneration that begins in late childhood resulting in progressive loss of vision. |
| Synonym | familial juvenile macular degeneration syndrome ffm ffm - fundus flavimaculatus fundus flavimaculatus fundus flavimaculatus (disorder) stargardt macular degeneration stargardt's disease stargardt's disease (disorder) stargardt's disease [ambiguous] |
| Orphanet | |
| DOID | |
| UMLS | C0271093 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0271093 | stargardt's disease | 2 C0271093 | fundus flavimaculatus | 1 C0456909 | vision loss | 1 C0035309 | retinopathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:49) 19 | ABCA1 | 1.775 | DISEASES 24 | ABCA4 | 8.611 | DISEASES 152 | ADRA2C | 2.394 | DISEASES 60489 | APOBEC3G | 1.603 | DISEASES 6314 | ATXN7 | 1.081 | DISEASES 578 | BAK1 | 1.573 | DISEASES 7439 | BEST1 | 2.591 | DISEASES 388939 | C2orf71 | 2.756 | DISEASES 778 | CACNA1F | 1.403 | DISEASES 966 | CD59 | 1.318 | DISEASES 80184 | CEP290 | 1.456 | DISEASES 3075 | CFH | 1.125 | DISEASES 1121 | CHM | 1.438 | DISEASES 23418 | CRB1 | 3.814 | DISEASES 1524 | CX3CR1 | 1.628 | DISEASES 285440 | CYP4V2 | 1.551 | DISEASES 1810 | DR1 | 1.713 | DISEASES 2202 | EFEMP1 | 2.455 | DISEASES 64834 | ELOVL1 | 2.47 | DISEASES 6785 | ELOVL4 | 5.879 | DISEASES 346007 | EYS | 2.943 | DISEASES 2569 | GABRR1 | 2.64 | DISEASES 4935 | GPR143 | 2.092 | DISEASES 6011 | GRK1 | 1.879 | DISEASES 2996 | GYPE | 1.439 | DISEASES 9843 | HEPH | 1.781 | DISEASES 3109 | HLA-DMB | 1.51 | DISEASES 3614 | IMPDH1 | 1.939 | DISEASES 3617 | IMPG1 | 2.855 | DISEASES 3778 | KCNMA1 | 1.924 | DISEASES 9227 | LRAT | 3.243 | DISEASES 4538 | MT-ND4 | 1.538 | DISEASES 4625 | MYH7 | 1.089 | DISEASES 4647 | MYO7A | 3.231 | DISEASES 64802 | NMNAT1 | 2.202 | DISEASES 4901 | NRL | 1.492 | DISEASES 60506 | NYX | 1.849 | DISEASES 5158 | PDE6B | 2.031 | DISEASES 10908 | PNPLA6 | 1.27 | DISEASES 79717 | PPCS | 1.486 | DISEASES 8842 | PROM1 | 1.814 | DISEASES 5890 | RAD51B | 1.738 | DISEASES 5950 | RBP4 | 2.233 | DISEASES 22999 | RIMS1 | 3.384 | DISEASES 6103 | RPGR | 3.415 | DISEASES 6247 | RS1 | 1.66 | DISEASES 89790 | SIGLEC10 | 2.97 | DISEASES 4308 | TRPM1 | 1.755 | DISEASES 286753 | TUSC5 | 1.32 | DISEASES |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 769 |
|---|---|
| Disease | stargardt disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:15) HP:0008059 | Aplasia/Hypoplasia of the macula HP:0007722 | Loss of retinal pigment epithelium HP:0000610 | Abnormality of the choroid HP:0000551 | Abnormality of color vision HP:0000603 | Central scotoma HP:0000608 | Macular degeneration HP:0000649 | Abnormality of visual evoked potentials HP:0007814 | Salt and pepper retinopathy HP:0000493 | Abnormality of the fovea HP:0008002 | Abnormality of macular pigmentation HP:0030500 | Yellow/white lesions of the macula HP:0007704 | Paroxysmal involuntary eye movements HP:0007663 | Reduced visual acuity HP:0030329 | Retinal thinning HP:0000662 | Nyctalopia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0100014 | Macular pucker | 1 HP:0000575 | Scotoma | 1 HP:0011504 | Bull's eye maculopathy | 1 HP:0000572 | Visual loss | 1 HP:0000662 | Poor night vision | 1 HP:0000488 | Noninflammatory retina disease | 1 HP:0030637 | Cone dysfunction | 1 HP:0000603 | Central scotomata | 1 HP:0007642 | Congenital stationary night blindness | 1 |
| Disease ID | 769 |
|---|---|
| Disease | stargardt disease |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28938473 | NA | 24 | ABCA4 | umls:C0271093 | CLINVAR | NA | 0.247101096 | NA | ABCA4 | 1 | 94007731 | G | A |
| rs61753033 | NA | 24 | ABCA4 | umls:C0271093 | CLINVAR | NA | 0.247101096 | NA | ABCA4 | 1 | 94008767 | A | G |
| rs61753034 | NA | 24 | ABCA4 | umls:C0271093 | CLINVAR | NA | 0.247101096 | NA | ABCA4 | 1 | 94007727 | A | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000649 | Abnormality of visual evoked potentials | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0008002 | Abnormality of macular pigmentation | 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:0000551 | Abnormality of color vision | 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:0000608 | Macular degeneration | MP:0008584 | photoreceptor outer segment degeneration | retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin |
| HP:0007663 | Reduced visual acuity | MP:0006149 | decreased visual acuity | loss of visual acuity or ability to distinguish small details |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000551 | Abnormality of color vision | 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:0030329 | Retinal thinning | 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:0007663 | Reduced visual acuity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008002 | Abnormality of macular pigmentation | MP:0013203 | abnormal primary cilium morphology | any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors |
| HP:0000608 | Macular degeneration | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000610 | Abnormality of the choroid | MP:0002988 | decreased urine osmolality | reduction in the amount of ions in the urine compared to the normal state |
| HP:0007814 | Retinal pigment epithelial mottling | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0000493 | Abnormality of the fovea | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| HP:0000662 | Nyctalopia | 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:0007704 | Paroxysmal involuntary eye movements | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0000649 | Abnormality of visual evoked potentials | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| 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 | 769 |
|---|---|
| Disease | stargardt disease |
| Case | (Waiting for update.) |