eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| bor syndrome | ||||
| Disease ID | 633 |
|---|---|
| Disease | bor syndrome |
| Definition | An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) |
| Synonym | bor1 branchio oto renal syndrome branchio otorenal syndrome branchio-oto-renal syndrome branchio-oto-renal syndrome [disease/finding] branchio-otorenal dysplasia branchio-otorenal dysplasia (disorder) branchio-otorenal syndrome branchiootorenal dysplasia branchiootorenal syndrome 1 dysplasia, branchiootorenal melnick fraser syndrome melnick-fraser syndrome melnick-fraser syndrome (disorder) syndrome, bor syndrome, branchio-oto-renal syndrome, melnick-fraser |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265234 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 633 |
|---|---|
| Disease | bor syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:51) HP:0004467 | Pit in front of the ear HP:0000691 | Decreased width of tooth HP:0007925 | Absent tear duct HP:0004742 | Abnormality of the renal collecting system HP:0000402 | Stenosis of the external auditory canal HP:0000365 | Hearing impairment HP:0000799 | Fatty kidney HP:0010628 | Facial palsy HP:0000275 | Decreased width of face HP:0011094 | Increased overlap of upper and lower incisors HP:0009798 | Euthyroid goiter HP:0000074 | Ureteropelvic junction obstruction HP:0000083 | Renal insufficiency HP:0008678 | Renal hypoplasia/aplasia HP:0001374 | Congenital hip dislocation HP:0000126 | Hydronephrosis HP:0004452 | Abnormality of the middle ear ossicles HP:0000276 | Long face HP:0000410 | Hearing loss, mixed HP:0000104 | Renal agenesis HP:0009796 | Branchial cysts HP:0004458 | Dilatated internal auditory canal HP:0000175 | Palatoschisis HP:0000384 | Preauricular skin tag HP:0000076 | Vesicoureteral reflux HP:0008586 | Hypoplasia of the cochlea HP:0000413 | Atresia of the external auditory canal HP:0000175 | Cleft palate HP:0000003 | Multicystic kidney dysplasia HP:0000376 | Incomplete partition of the cochlea type II HP:0000218 | Increased palatal height HP:0009795 | Branchial cleft fistula HP:0004712 | Abnormal rotation of the kidneys HP:0007678 | Nasolacrimal duct stenosis HP:0011481 | Abnormality of the lacrimal duct HP:0000278 | Retrognathia HP:0000110 | Renal dysplasia HP:0009796 | Branchial cyst HP:0000113 | Polycystic kidney dysplasia HP:0002566 | Intestinal malrotation HP:0008586 | Hypoplastic cochlea HP:0002060 | Abnormality of the cerebrum HP:0000193 | Uvula bifida HP:0000378 | Cupped ear HP:0000076 | Vesicoureteric reflux HP:0008572 | External ear malformation HP:0011388 | Enlarged cochlear aqueduct HP:0100274 | Gustatory lacrimation HP:0008551 | Hypoplasia of the external ear HP:0010628 | Facial palsy, unilateral or bilateral HP:0009797 | Cholesteatoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) |
| Disease ID | 633 |
|---|---|
| Disease | bor syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0018784 | sensorineural hearing loss |
| 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:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894478 | NA | 6495 | SIX1 | umls:C0265234 | CLINVAR | NA | 0.331701795 | NA | SIX1 | 14 | 60648804 | T | C |
| rs121909195 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71271802 | G | C,A |
| rs121909196 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71216733 | C | T |
| rs121909200 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71215630 | A | G |
| rs121909201 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71215470 | A | C |
| rs121909202 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71244662 | G | A |
| rs397515560 | NA | 6495 | SIX1 | umls:C0265234 | CLINVAR | NA | 0.331701795 | NA | SIX1 | 14 | 60648873 | A | C |
| rs397515561 | NA | 6495 | SIX1 | umls:C0265234 | CLINVAR | NA | 0.331701795 | NA | SIX1 | 14 | 60648856 | G | A |
| rs397515562 | NA | 6495 | SIX1 | umls:C0265234 | CLINVAR | NA | 0.331701795 | NA | SIX1 | 14 | 60649140 | A | T |
| rs397517916 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71244621 | T | - |
| rs397517917 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71215729 | C | A |
| rs397517918 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71215405 | A | T |
| rs397517919 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71211156 | - | A |
| rs397517920 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1;LOC105375894 | 8 | 71199371 | A | G |
| rs606231355 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71211156 | CTTT | - |
| rs606231357 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71271753 | C | T |
| rs727503042 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71215613 | C | G |
| rs727504494 | NA | 2138 | EYA1 | umls:C0265234 | CLINVAR | NA | 0.584479426 | NA | EYA1 | 8 | 71317680 | C | T,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0000384 | Preauricular skin tag | MP:0001786 | skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| HP:0000276 | Long face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0000402 | Stenosis of the external auditory canal | MP:0010728 | fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
| HP:0004458 | Dilatated internal auditory canal | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0008586 | Hypoplasia of the cochlea | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0000413 | Atresia of the external auditory canal | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0000003 | Multicystic kidney dysplasia | MP:0011376 | abnormal kidney corticomedullary boundary morphology | any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0000113 | Polycystic kidney dysplasia | MP:0011565 | kidney papillary hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx |
| HP:0000378 | Cupped ear | MP:0006286 | inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| HP:0008572 | External ear malformation | MP:0006286 | inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| HP:0004467 | Preauricular pit | MP:0006306 | abnormal nasal pit morphology | any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal proces |
| HP:0000074 | Ureteropelvic junction obstruction | MP:0003270 | intestinal obstruction | any impediment, blockage, or reversal of the normal flow of the intestinal contents toward the anus |
| HP:0004742 | Abnormality of the renal collecting system | MP:0005499 | abnormal olfactory system morphology | any structural anomaly of the organs involved in smell |
| HP:0000376 | Incomplete partition of the cochlea type II | MP:0004522 | abnormal orientation of cochlear hair cell stereociliary bundles | misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium |
| HP:0002060 | Abnormality of the cerebrum | MP:0004251 | failure of heart looping | failure of the primitive heart tube to loop asymmetrically during early development |
| HP:0007678 | Lacrimal duct stenosis | MP:0008065 | short endolymphatic duct | length reduction or truncation of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac |
| HP:0000410 | Mixed hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
Mapped by homologous gene(Total Items:44) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000193 | Bifid uvula | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000278 | Retrognathia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000275 | Narrow face | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007678 | Lacrimal duct stenosis | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0004458 | Dilatated internal auditory canal | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0002566 | Intestinal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0008551 | Microtia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000276 | Long face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000110 | Renal dysplasia | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0011094 | Overbite | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000376 | Incomplete partition of the cochlea type II | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000003 | Multicystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000413 | Atresia of the external auditory canal | 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:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008572 | External ear malformation | 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:0008586 | Hypoplasia of the cochlea | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000384 | Preauricular skin tag | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009798 | Euthyroid goiter | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0001374 | Congenital hip dislocation | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0004712 | Renal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0002060 | Abnormality of the cerebrum | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0004742 | Abnormality of the renal collecting system | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0007925 | Lacrimal duct aplasia | MP:0011961 | abnormal cornea thickness | increased or decreased width of the cornea in the center plane |
| HP:0009797 | Cholesteatoma | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0009796 | Branchial cyst | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000175 | Cleft palate | 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:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000113 | Polycystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000074 | Ureteropelvic junction obstruction | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0000378 | Cupped ear | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0008678 | Renal hypoplasia/aplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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 |
| HP:0000799 | Renal steatosis | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0004452 | Abnormality of the middle ear ossicles | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0000410 | Mixed hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009795 | Branchial fistula | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000104 | Renal agenesis | 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:0000402 | Stenosis of the external auditory canal | 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:0004467 | Preauricular pit | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100274 | Gustatory lacrimation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| Disease ID | 633 |
|---|---|
| Disease | bor syndrome |
| Case | (Waiting for update.) |