eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acro-renal-ocular syndrome | ||||
| Disease ID | 866 |
|---|---|
| Disease | acro-renal-ocular syndrome |
| Definition | A syndrome consisting of Duane's syndrome, radial ray anomaly, and frequently, HEARING LOSS, SENSORINEURAL. |
| Synonym | acrorenoocular syndrome acrorenoocular syndrome (disorder) acrorenoocular syndromes dr syndrome drrs drrs - duane-radial ray syndrome duane anomaly with radial abnormalities and deafness duane radial ray syndrome duane-radial ray syndrome duane-radial ray syndrome (disorder) okihiro syndrome syndrome, acrorenoocular syndrome, duane-radial ray syndrome, okihiro syndromes, acrorenoocular |
| Orphanet | |
| OMIM | |
| UMLS | C1623209 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0042870 | vitamin d defic | 1 C0022658 | nephropathy | 1 C0235270 | keratopathy | 1 C0042870 | vitamin d deficiency | 1 C0155120 | band keratopathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 23394 | ADNP | 2.972 | DISEASES 55653 | BCAS4 | 4.303 | DISEASES 1045 | CDX2 | 1.505 | DISEASES 55636 | CHD7 | 2.178 | DISEASES 1123 | CHN1 | 4.264 | DISEASES 8813 | DPM1 | 2.167 | DISEASES 3127 | HLA-DRB5 | 2.189 | DISEASES 55605 | KIF21A | 1.419 | DISEASES 5076 | PAX2 | 2.035 | DISEASES 6297 | SALL2 | 3.505 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) SALL4 | 20q13.2 |
| Disease ID | 866 |
|---|---|
| Disease | acro-renal-ocular syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:44) HP:0000639 | Nystagmus HP:0004059 | Radial club hand HP:0000588 | Optic nerve coloboma HP:0000568 | Microphthalmia HP:0000518 | Cataract HP:0002818 | Abnormality of the radius HP:0001770 | Toe syndactyly HP:0012745 | Short palpebral fissure HP:0002251 | Aganglionic megacolon HP:0008897 | Postnatal growth retardation HP:0009650 | Short distal phalanx of the thumb HP:0000508 | Ptosis HP:0008678 | Renal hypoplasia/aplasia HP:0006101 | Finger syndactyly HP:0010109 | Short hallux HP:0000486 | Strabismus HP:0000316 | Hypertelorism HP:0001172 | Abnormality of the thumb HP:0001852 | Sandal gap HP:0001636 | Tetralogy of Fallot HP:0000015 | Bladder diverticulum HP:0004736 | Crossed fused renal ectopia HP:0000407 | Sensorineural hearing impairment HP:0000076 | Vesicoureteral reflux HP:0000612 | Iris coloboma HP:0009778 | Short thumb HP:0003022 | Hypoplasia of the ulna HP:0004712 | Renal malrotation HP:0000286 | Epicanthus HP:0001177 | Preaxial hand polydactyly HP:0000589 | Coloboma HP:0005792 | Short humerus HP:0010059 | Broad hallux phalanx HP:0000405 | Conductive hearing impairment HP:0000085 | Horseshoe kidney HP:0001883 | Talipes HP:0000567 | Chorioretinal coloboma HP:0006501 | Aplasia/Hypoplasia of the radius HP:0003422 | Vertebral segmentation defect HP:0000505 | Visual impairment HP:0001199 | Triphalangeal thumb HP:0002948 | Vertebral fusion HP:0007766 | Optic disc hypoplasia HP:0000482 | Microcornea |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 866 |
|---|---|
| Disease | acro-renal-ocular syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| SALL4 | Het del whole gene | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs74315424 | NA | 57167 | SALL4 | umls:C1623209 | CLINVAR | NA | 0.442985861 | NA | SALL4 | 20 | 51790529 | G | A |
| rs74315425 | NA | 57167 | SALL4 | umls:C1623209 | CLINVAR | NA | 0.442985861 | NA | SALL4 | 20 | 51789010 | G | A |
| rs74315426 | NA | 57167 | SALL4 | umls:C1623209 | CLINVAR | NA | 0.442985861 | NA | SALL4 | 20 | 51791960 | T | A |
| rs74315427 | NA | 57167 | SALL4 | umls:C1623209 | CLINVAR | NA | 0.442985861 | NA | SALL4 | 20 | 51790634 | G | A |
| rs74315428 | NA | 57167 | SALL4 | umls:C1623209 | CLINVAR | NA | 0.442985861 | NA | SALL4 | 20 | 51788890 | G | A |
| rs74315429 | NA | 57167 | SALL4 | umls:C1623209 | CLINVAR | NA | 0.442985861 | NA | SALL4 | 20 | 51788940 | T | C |
| rs797044509 | NA | 57167 | SALL4 | umls:C1623209 | CLINVAR | NA | 0.442985861 | NA | SALL4 | 20 | 51791986 | - | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000085 | Horseshoe kidney | MP:0011441 | decreased kidney cell proliferation | decrease in the expansion rate of any kidney cell population by cell division |
| HP:0001172 | Abnormality of the thumb | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| HP:0006501 | Aplasia/Hypoplasia of the radius | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0009650 | Short distal phalanx of the thumb | MP:0004180 | failure of initiation of embryo turning | failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage |
| HP:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0002251 | Aganglionic megacolon | MP:0002926 | aganglionic megacolon | extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus |
| HP:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0003422 | Vertebral segmentation defect | MP:0010412 | atrioventricular septal defect | defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partia |
| HP:0001636 | Tetralogy of Fallot | 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:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0002948 | Vertebral fusion | MP:0004613 | fusion of vertebral arches | improper union of the dorsal part of adjacent vertebra |
| HP:0000588 | Optic nerve coloboma | MP:0012533 | uveal coloboma | congenital defect of the uvea in which some part of the structure is absent |
| HP:0005792 | Short humerus | MP:0008160 | increased diameter of humerus | increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge |
| HP:0008897 | Postnatal growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0001177 | Preaxial hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0004736 | Crossed fused renal ectopia | MP:0003446 | renal hypoplasia | underdevelopment or reduced size of the kidney, usually due to a reduced number of cells |
| HP:0000612 | Iris coloboma | MP:0005262 | coloboma | anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation |
| HP:0010109 | Short hallux | MP:0009001 | absent hallux | absence of the first or primary digit of the foot |
| HP:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
| HP:0003022 | Hypoplasia of the ulna | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0007766 | Optic disc hypoplasia | MP:0008259 | abnormal optic disc morphology | any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve |
Mapped by homologous gene(Total Items:42) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001883 | Talipes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001172 | Abnormality of the thumb | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0008897 | Postnatal growth retardation | 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:0003422 | Vertebral segmentation defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000085 | Horseshoe kidney | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| 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:0000567 | Chorioretinal coloboma | MP:0013767 | decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| HP:0001177 | Preaxial hand polydactyly | 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:0001852 | Sandal gap | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0006501 | Aplasia/Hypoplasia of the radius | 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:0000407 | Sensorineural hearing 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:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000482 | Microcornea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0005792 | Short humerus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004712 | Renal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0004736 | Crossed fused renal ectopia | MP:0013239 | impaired skeletal muscle regeneration | reduced ability to repair skeletal muscle after injury or disease |
| HP:0002251 | Aganglionic megacolon | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001636 | Tetralogy of Fallot | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0000612 | Iris coloboma | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| HP:0000568 | Microphthalmia | 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:0003022 | Hypoplasia of the ulna | 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:0001199 | Triphalangeal thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002948 | Vertebral fusion | 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:0007766 | Optic disc hypoplasia | 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:0000589 | Coloboma | 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:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008678 | Renal hypoplasia/aplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000015 | Bladder diverticulum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0004059 | Radial club hand | MP:0013167 | abnormal hindlimb bud morphology | any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species) |
| HP:0012745 | Short palpebral fissure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000588 | Optic nerve coloboma | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| HP:0009650 | Short distal phalanx of the thumb | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| 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:0009778 | Short thumb | MP:0020040 | decreased bone ossification | decrease 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:0010109 | Short hallux | MP:0020040 | decreased bone ossification | decrease 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 | 866 |
|---|---|
| Disease | acro-renal-ocular syndrome |
| Case | (Waiting for update.) |