eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| wagr syndrome | ||||
| Disease ID | 74 |
|---|---|
| Disease | wagr syndrome |
| Definition | A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY. |
| Synonym | 11p partial monosomy syndrome 11p partial monosomy syndrome (disorder) aniridia-wilms tumor association aniridia-wilms tumour association chromosome 11p13 deletion syndrome chromosome 11p13 deletion syndrome (disorder) complex, wagr contiguous gene syndrome, wagr syndrome, wagr wagr wagr (wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome wagr (wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome wagr complex wagr complices wagr contiguous gene syndrome wagr syndrome [disease/finding] wagr syndromes wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome wilms tumor-aniridia-genital anomalies-retardation syndrome wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome wilms tumor-aniridia-genitourinary anomalies-mr syndrome wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0206115 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:17) 60529 | ALX4 | 2.702 | DISEASES 627 | BDNF | 3.177 | DISEASES 977 | CD151 | 2.139 | DISEASES 9244 | CRLF1 | 2.004 | DISEASES 1621 | DBH | 1.818 | DISEASES 3481 | IGF2 | 2.329 | DISEASES 3739 | KCNA4 | 2.402 | DISEASES 84678 | KDM2B | 3.101 | DISEASES 9682 | KDM4A | 2.097 | DISEASES 55366 | LGR4 | 2.978 | DISEASES 758 | MPPED1 | 4.261 | DISEASES 744 | MPPED2 | 3.819 | DISEASES 4868 | NPHS1 | 1.098 | DISEASES 5080 | PAX6 | 6.107 | DISEASES 5420 | PODXL | 1.946 | DISEASES 7490 | WT1 | 5.962 | DISEASES 10782 | ZNF274 | 3.509 | DISEASES |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 74 |
|---|---|
| Disease | wagr syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0000639 | Nystagmus HP:0000028 | Cryptorchidism HP:0000347 | Micrognathia HP:0001513 | Obesity HP:0000505 | Visual impairment HP:0000518 | Cataract HP:0100627 | Displacement of the external urethral meatus HP:0004322 | Short stature HP:0000364 | Hearing abnormality HP:0000252 | Microcephaly HP:0002650 | Scoliosis HP:0008053 | Aplasia/Hypoplasia of the iris HP:0007299 | Dysfunction of lateral corticospinal tracts HP:0000062 | Ambiguous genitalia HP:0000501 | Glaucoma HP:0000232 | Everted lower lip vermilion HP:0000508 | Ptosis HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 74 |
|---|---|
| Disease | wagr syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| 11p13 deletion | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
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:0100627 | Displacement of the external urethral meatus | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| 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: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:0000062 | Ambiguous genitalia | MP:0009202 | small external male genitalia | reduced size of the external masculine genital organs |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000364 | Hearing abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100627 | Displacement of the external urethral meatus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000518 | Cataract | 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:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0000028 | Cryptorchidism | 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:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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: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:0000252 | Microcephaly | 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:0004322 | Short stature | 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:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000062 | Ambiguous genitalia | 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 |
| Disease ID | 74 |
|---|---|
| Disease | wagr syndrome |
| Case | (Waiting for update.) |