eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| peters anomaly | ||||
| Disease ID | 427 |
|---|---|
| Disease | peters anomaly |
| Definition | A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. [HPO:probinson] |
| Synonym | anomalies peters anomaly peter anomaly, peters' irido-corneo-trabecular dysgenesis irido-corneo-trabecular dysgenesis (disorder) peter anomaly peter's anomaly peters' anomaly |
| Orphanet | |
| OMIM | |
| UMLS | C0344559 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0003076 | aniridia | 2 C0206115 | wagr syndrome | 1 C0035305 | retinal detachment | 1 C0016952 | galactosemia | 1 C0012236 | 22q11.2 deletion syndrome | 1 C0010314 | cri-du-chat syndrome | 1 C0339204 | staphyloma | 1 C0268151 | classic galactosemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:37) 56999 | ADAMTS9 | 2.673 | DISEASES 655 | BMP7 | 1.279 | DISEASES 1121 | CHM | 1.993 | DISEASES 1123 | CHN1 | 1.901 | DISEASES 1282 | COL4A1 | 1.932 | DISEASES 1859 | DYRK1A | 1.725 | DISEASES 2131 | EXT1 | 2.574 | DISEASES 2138 | EYA1 | 2.486 | DISEASES 79147 | FKRP | 2.065 | DISEASES 2316 | FLNA | 1.106 | DISEASES 2296 | FOXC1 | 4.069 | DISEASES 27022 | FOXD3 | 2.106 | DISEASES 2301 | FOXE3 | 5.195 | DISEASES 9573 | GDF3 | 2.631 | DISEASES 3052 | HCCS | 2.249 | DISEASES 5076 | PAX2 | 2.408 | DISEASES 5077 | PAX3 | 1.346 | DISEASES 5080 | PAX6 | 4.968 | DISEASES 5828 | PEX2 | 2.841 | DISEASES 5309 | PITX3 | 2.06 | DISEASES 23275 | POFUT2 | 3.72 | DISEASES 10585 | POMT1 | 2.384 | DISEASES 6473 | SHOX | 1.945 | DISEASES 4990 | SIX6 | 2.38 | DISEASES 83959 | SLC4A11 | 3.543 | DISEASES 9353 | SLIT2 | 2.138 | DISEASES 6586 | SLIT3 | 2.005 | DISEASES 6656 | SOX1 | 2.311 | DISEASES 6658 | SOX3 | 2.466 | DISEASES 27067 | STAU2 | 4.044 | DISEASES 23424 | TDRD7 | 4.79 | DISEASES 7020 | TFAP2A | 2.984 | DISEASES 7042 | TGFB2 | 2.016 | DISEASES 55503 | TRPV6 | 2.072 | DISEASES 706 | TSPO | 1.389 | DISEASES 117581 | TWIST2 | 2.312 | DISEASES 79776 | ZFHX4 | 3.575 | DISEASES |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 427 |
|---|---|
| Disease | peters anomaly |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0000639 | Nystagmus HP:0000486 | Squint eyes HP:0007957 | Corneal clouding HP:0001087 | Childhood glaucoma HP:0000659 | Peters anomaly |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0007957 | Corneal clouding | 3 HP:0000526 | Absent iris | 2 HP:0007720 | Flat cornea | 1 HP:0000589 | Ocular coloboma | 1 HP:0000480 | Retinal coloboma | 1 HP:0010442 | Polydactyly | 1 HP:0030854 | Scleral staphyloma | 1 HP:0007968 | Persistent fetal vasculature | 1 HP:0000501 | Glaucoma | 1 HP:0000541 | Detached retina | 1 HP:0000567 | Chorioretinal coloboma | 1 HP:0000078 | Genital abnormalities | 1 |
| Disease ID | 427 |
|---|---|
| Disease | peters anomaly |
| 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:12) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893951 | NA | 2296 | FOXC1 | umls:C0344559 | CLINVAR | NA | 0.360542884 | NA | FOXC1 | 6 | 1610780 | T | A,C |
| rs104893951 | 12614756 | 2296 | FOXC1 | umls:C0344559 | BeFree | A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. | 0.360542884 | 2003 | FOXC1 | 6 | 1610780 | T | A,C |
| rs121907913 | NA | 5080 | PAX6 | umls:C0344559 | CLINVAR | NA | 0.562714419 | NA | PAX6 | 11 | 31802769 | G | C |
| rs121907921 | NA | 5080 | PAX6 | umls:C0344559 | CLINVAR | NA | 0.562714419 | NA | PAX6 | 11 | 31801893 | A | T |
| rs121908111 | 9302254 | 5075 | PAX1 | umls:C0344559 | BeFree | To investigate this possibility further, we have analyzed the DNA-binding properties of additional point mutants in the Pax-3 paired domain and homeodomain that occur in WS patients (F12L, N14H, G15S, P17L, R23L, G48A, S51F and G66D in the paired domain, V47F and R53G in the homeodomain), the Pax-1 un mutation (G15A) and a substitution associated with Peters' anomaly in the PAX-6 gene (R23G). | 0.000271442 | 1997 | PAX3;CCDC140 | 2 | 222297156 | C | G |
| rs121908111 | 9302254 | 5080 | PAX6 | umls:C0344559 | BeFree | To investigate this possibility further, we have analyzed the DNA-binding properties of additional point mutants in the Pax-3 paired domain and homeodomain that occur in WS patients (F12L, N14H, G15S, P17L, R23L, G48A, S51F and G66D in the paired domain, V47F and R53G in the homeodomain), the Pax-1 un mutation (G15A) and a substitution associated with Peters' anomaly in the PAX-6 gene (R23G). | 0.562714419 | 1997 | PAX3;CCDC140 | 2 | 222297156 | C | G |
| rs121908111 | 9302254 | 5077 | PAX3 | umls:C0344559 | BeFree | To investigate this possibility further, we have analyzed the DNA-binding properties of additional point mutants in the Pax-3 paired domain and homeodomain that occur in WS patients (F12L, N14H, G15S, P17L, R23L, G48A, S51F and G66D in the paired domain, V47F and R53G in the homeodomain), the Pax-1 un mutation (G15A) and a substitution associated with Peters' anomaly in the PAX-6 gene (R23G). | 0.000271442 | 1997 | PAX3;CCDC140 | 2 | 222297156 | C | G |
| rs121909339 | NA | 2296 | FOXC1 | umls:C0344559 | CLINVAR | NA | 0.360542884 | NA | FOXC1 | 6 | 1610803 | C | T |
| rs587778873 | NA | 1545 | CYP1B1 | umls:C0344559 | CLINVAR | NA | 0.361085767 | NA | CYP1B1 | 2 | 38071144 | - | GGTGGCATGA |
| rs587778874 | NA | 5080 | PAX6 | umls:C0344559 | CLINVAR | NA | 0.562714419 | NA | PAX6 | 11 | 31801766 | C | A |
| rs72549387 | NA | 1545 | CYP1B1 | umls:C0344559 | CLINVAR | NA | 0.361085767 | NA | CYP1B1;LOC105374860 | 2 | 38075218 | C | T,G |
| rs72549389 | NA | 1545 | CYP1B1 | umls:C0344559 | CLINVAR | NA | 0.361085767 | NA | CYP1B1;LOC105374860 | 2 | 38075387 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000486 | Strabismus | 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:0000639 | Nystagmus | 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:0001087 | Congenital glaucoma | 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:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000659 | Peters anomaly | 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 |
| Disease ID | 427 |
|---|---|
| Disease | peters anomaly |
| Case | (Waiting for update.) |