eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| axenfeld-rieger syndrome | ||||
| Disease ID | 673 |
|---|---|
| Disease | axenfeld-rieger syndrome |
| Synonym | axenfeld-rieger syndrome (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C3495488 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0017601 | glaucoma | 3 C0017605 | angle closure glaucoma | 1 C0019322 | umbilical hernia | 1 C0020302 | congenital glaucoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:39) 208 | AKT2 | 1.018 | DISEASES 265 | AMELX | 1.564 | DISEASES 136371 | ASB10 | 3.132 | DISEASES 84570 | COL25A1 | 3.186 | DISEASES 1282 | COL4A1 | 1.716 | DISEASES 22894 | DIS3 | 2.719 | DISEASES 1855 | DVL1 | 1.822 | DISEASES 1994 | ELAVL1 | 1.251 | DISEASES 80712 | ESX1 | 1.959 | DISEASES 2253 | FGF8 | 1.475 | DISEASES 2296 | FOXC1 | 7.055 | DISEASES 2301 | FOXE3 | 2.613 | DISEASES 2302 | FOXJ1 | 2.374 | DISEASES 668 | FOXL2 | 2.339 | DISEASES 93986 | FOXP2 | 1.63 | DISEASES 8322 | FZD4 | 1.77 | DISEASES 2736 | GLI2 | 1.345 | DISEASES 55366 | LGR4 | 2.592 | DISEASES 4043 | LRPAP1 | 1.87 | DISEASES 5606 | MAP2K3 | 1.716 | DISEASES 5608 | MAP2K6 | 2.164 | DISEASES 4205 | MEF2A | 1.494 | DISEASES 4212 | MEIS2 | 2.649 | DISEASES 4693 | NDP | 2.134 | DISEASES 1482 | NKX2-5 | 1.222 | DISEASES 5074 | PAWR | 2.078 | DISEASES 5076 | PAX2 | 1.234 | DISEASES 5080 | PAX6 | 3.521 | DISEASES 5087 | PBX1 | 1.384 | DISEASES 5309 | PITX3 | 1.755 | DISEASES 57449 | PLEKHG5 | 2.576 | DISEASES 5449 | POU1F1 | 2.016 | DISEASES 5618 | PRLR | 2.304 | DISEASES 22930 | RAB3GAP1 | 2.451 | DISEASES 25782 | RAB3GAP2 | 3.296 | DISEASES 6473 | SHOX | 1.55 | DISEASES 6474 | SHOX2 | 2.373 | DISEASES 150572 | SMYD1 | 3.355 | DISEASES 6891 | TAP2 | 1.875 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 673 |
|---|---|
| Disease | axenfeld-rieger syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0000047 | Hypospadias HP:0002025 | Anal stenosis HP:0011800 | Midface retrusion HP:0000691 | Microdontia HP:0000864 | Abnormality of the hypothalamus-pituitary axis HP:0000506 | Telecanthus HP:0001582 | Redundant skin HP:0000327 | Hypoplasia of the maxilla HP:0000593 | Abnormality of the anterior chamber HP:0002564 | Malformation of the heart and great vessels HP:0000627 | Posterior embryotoxon HP:0008053 | Aplasia/Hypoplasia of the iris HP:0000316 | Hypertelorism HP:0000431 | Wide nasal bridge HP:0000365 | Hearing impairment HP:0000668 | Hypodontia HP:0005280 | Depressed nasal bridge HP:0000501 | Glaucoma HP:0000232 | Everted lower lip vermilion HP:0001510 | Growth delay HP:0011220 | Prominent forehead |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0000501 | Glaucoma | 3 HP:0001627 | Congenital heart defects | 2 HP:0000557 | Buphthalmos | 1 HP:0007676 | Hypoplasia of the iris | 1 HP:0100790 | Hernia | 1 HP:0001537 | Umbilical hernias | 1 HP:0001087 | Childhood glaucoma | 1 |
| Disease ID | 673 |
|---|---|
| Disease | axenfeld-rieger syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893858 | 18723525 | 2302 | FOXJ1 | umls:C3495488 | BeFree | The PITX2 T68P ARS mutant protein physically interacts with FoxJ1; however, it cannot activate the FoxJ1 promoter. | 0.000271442 | 2008 | PITX2 | 4 | 110621214 | T | G |
| rs104893858 | 11929847 | 1746 | DLX2 | umls:C3495488 | BeFree | This mutation is associated with iris hypoplasia (IH); in contrast a Rieger syndrome mutation, PITX2 T68P, which presents clinically with the full spectrum of developmental anomalies (including tooth anomalies), is unable to transactivate the Dlx2 promoter. | 0.000542884 | 2002 | PITX2 | 4 | 110621214 | T | G |
| rs104893858 | 18723525 | 5308 | PITX2 | umls:C3495488 | BeFree | The PITX2 T68P ARS mutant protein physically interacts with FoxJ1; however, it cannot activate the FoxJ1 promoter. | 0.016210567 | 2008 | PITX2 | 4 | 110621214 | T | G |
| rs104893858 | 11929847 | 5308 | PITX2 | umls:C3495488 | BeFree | The PITX2 T68P ARS mutation occurs at a protein kinase C phosphorylation site in the homeodomain. | 0.016210567 | 2002 | PITX2 | 4 | 110621214 | T | G |
| rs104893859 | 21810944 | 5308 | PITX2 | umls:C3495488 | BeFree | The R91P mutant identified in Axenfeld Rieger syndrome is a dominant-negative factor, which is able to block the expression of several pituitary genes activated by PITX2. | 0.016210567 | 2011 | PITX2 | 4 | 110618669 | C | G |
| rs104893951 | 12614756 | 2296 | FOXC1 | umls:C3495488 | BeFree | A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. | 0.005157396 | 2003 | FOXC1 | 6 | 1610780 | T | A,C |
| rs104893952 | 10713890 | 2296 | FOXC1 | umls:C3495488 | BeFree | Direct sequencing of FKHL7 detected a C67T mutation that segregated with the ARS phenotype in this family, but was not detected in over 80 control chromosomes. | 0.005157396 | 2000 | FOXC1 | 6 | 1610512 | C | T |
| rs121909338 | 17210863 | 2296 | FOXC1 | umls:C3495488 | BeFree | The inability of FOXC1 to function owing to the L130F mutation provides further insight into how disruptions in the FOXC1 gene lead to human Axenfeld-Rieger syndrome. | 0.005157396 | 2007 | FOXC1 | 6 | 1610833 | C | T |
| rs28936409 | 21810944 | 5308 | PITX2 | umls:C3495488 | BeFree | The R91P mutant identified in Axenfeld Rieger syndrome is a dominant-negative factor, which is able to block the expression of several pituitary genes activated by PITX2. | 0.016210567 | 2011 | PITX2 | 4 | 110621303 | C | T,G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008053 | Aplasia/Hypoplasia of the iris | 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:0000864 | Abnormality of the hypothalamus-pituitary axis | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith |
| HP:0001582 | Redundant skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0000232 | Everted lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0011800 | Hypoplasia of midface | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000593 | Abnormality of the anterior chamber | MP:0010709 | absent anterior chamber | absence of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
Mapped by homologous gene(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000047 | Hypospadias | 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:0002025 | Anal stenosis | 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:0000327 | Hypoplasia of the maxilla | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001582 | Redundant skin | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0008053 | Aplasia/Hypoplasia of the iris | 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:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0011800 | Hypoplasia of midface | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000627 | Posterior embryotoxon | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000668 | Hypodontia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000232 | Everted lower lip vermilion | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0011220 | Prominent forehead | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000593 | Abnormality of the anterior chamber | 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:0000506 | Telecanthus | 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:0000501 | Glaucoma | 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:0000691 | Microdontia | 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 |
| Disease ID | 673 |
|---|---|
| Disease | axenfeld-rieger syndrome |
| Case | (Waiting for update.) |