eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| usher syndrome | ||||
| Disease ID | 257 |
|---|---|
| Disease | usher syndrome |
| Definition | hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked. |
| Synonym | deafness retinitis pigmentosa syndrome deafness-retinitis pigmentosa syndrome deafness-retinitis pigmentosa syndromes dystrophia retinae pigmentosa dysostosis syndrome dystrophia retinae pigmentosa-dysostosis syndrome graefe usher syndrome graefe-usher syndrome hallgren syndrome hallgren's syndrome pigmentosa syndromes, deafness-retinitis retinitis pigmentosa 21, formerly retinitis pigmentosa 8, formerly retinitis pigmentosa deafness syndrome retinitis pigmentosa-deafness syndrome retinitis pigmentosa-deafness syndrome (disorder) retinitis pigmentosa-deafness syndromes retinitis pigmentosa-deafness-ataxia syndrome retinitis pigmentosa-deafness-ataxia syndrome (disorder) rp21, formerly rp8, formerly syndrome usher syndrome usher's syndrome ushers syndrome, deafness-retinitis pigmentosa syndrome, graefe-usher syndrome, hallgren syndrome, retinitis pigmentosa-deafness syndrome, usher syndrome, usher's syndromes usher syndromes, deafness-retinitis pigmentosa syndromes, retinitis pigmentosa-deafness syndromes, usher usher syndromes usher syndromes [disease/finding] usher's syndrome ushers syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0271097 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0042164 | uveitis | 3 C0456909 | blindness | 3 C0016782 | fuchs' heterochromic uveitis | 2 C0035334 | retinitis pigmentosa | 2 C0035333 | retinitis | 2 C0011351 | enamel hypoplasia | 1 C0042165 | anterior uveitis | 1 C0004936 | mental disorders | 1 C0035304 | retinal degeneration | 1 C0456909 | vision loss | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:9) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:103) 24 | ABCA4 | 2.794 | DISEASES 26090 | ABHD12 | 2.883 | DISEASES 71 | ACTG1 | 1.054 | DISEASES 60509 | AGBL5 | 2.71 | DISEASES 11214 | AKAP13 | 1.171 | DISEASES 136371 | ASB10 | 2.27 | DISEASES 491 | ATP2B2 | 1.667 | DISEASES 64919 | BCL11B | 2.192 | DISEASES 83636 | C19orf12 | 1.607 | DISEASES 388939 | C2orf71 | 3.146 | DISEASES 785 | CACNB4 | 1.842 | DISEASES 57662 | CAMSAP3 | 3.723 | DISEASES 64072 | CDH23 | 7.092 | DISEASES 92211 | CDHR1 | 2.144 | DISEASES 53841 | CDHR5 | 2.481 | DISEASES 11190 | CEP250 | 3.941 | DISEASES 84131 | CEP78 | 4.245 | DISEASES 1122 | CHML | 2.935 | DISEASES 10519 | CIB1 | 2.876 | DISEASES 7401 | CLRN1 | 6.783 | DISEASES 54875 | CNTLN | 1.125 | DISEASES 1297 | COL9A1 | 1.621 | DISEASES 23418 | CRB1 | 2.685 | DISEASES 1687 | DFNA5 | 2.721 | DISEASES 9732 | DOCK4 | 1.935 | DISEASES 2009 | EML1 | 2.044 | DISEASES 161436 | EML5 | 3.083 | DISEASES 2035 | EPB41 | 2.236 | DISEASES 83715 | ESPN | 1.781 | DISEASES 2070 | EYA4 | 1.458 | DISEASES 346007 | EYS | 3.685 | DISEASES 84140 | FAM161A | 2.075 | DISEASES 2582 | GALE | 1.876 | DISEASES 2706 | GJB2 | 4.061 | DISEASES 2821 | GPI | 1.852 | DISEASES 6011 | GRK1 | 1.356 | DISEASES 2932 | GSK3B | 3.962 | DISEASES 55733 | HHAT | 1.166 | DISEASES 3142 | HLX | 1.753 | DISEASES 3295 | HSD17B4 | 1.254 | DISEASES 3376 | IARS | 1.236 | DISEASES 8100 | IFT88 | 1.429 | DISEASES 3614 | IMPDH1 | 1.416 | DISEASES 133746 | JMY | 2.584 | DISEASES 169522 | KCNV2 | 1.824 | DISEASES 11275 | KLHL2 | 1.511 | DISEASES 167691 | LCA5 | 1.851 | DISEASES 3980 | LIG3 | 1.445 | DISEASES 25802 | LMOD1 | 1.487 | DISEASES 348801 | LNP1 | 2.078 | DISEASES 474354 | LRRC18 | 3.09 | DISEASES 9863 | MAGI2 | 1.669 | DISEASES 116931 | MED12L | 2.873 | DISEASES 744 | MPPED2 | 2.106 | DISEASES 4575 | MT-TS2 | 3.027 | DISEASES 4646 | MYO6 | 1.64 | DISEASES 4647 | MYO7A | 7.692 | DISEASES 4648 | MYO7B | 2.947 | DISEASES 4693 | NDP | 1.362 | DISEASES 4751 | NEK2 | 1.175 | DISEASES 64802 | NMNAT1 | 1.678 | DISEASES 11165 | NUDT3 | 1.817 | DISEASES 4975 | OMP | 1.97 | DISEASES 4976 | OPA1 | 3.083 | DISEASES 92736 | OTOP2 | 4.089 | DISEASES 347741 | OTOP3 | 4.017 | DISEASES 27328 | PCDH11X | 3.528 | DISEASES 65217 | PCDH15 | 7.206 | DISEASES 5132 | PDC | 2.199 | DISEASES 9659 | PDE4DIP | 2.255 | DISEASES 5158 | PDE6B | 2.112 | DISEASES 79955 | PDZD7 | 5.659 | DISEASES 91584 | PLXNA4 | 2.505 | DISEASES 11284 | PNKP | 1.898 | DISEASES 5456 | POU3F4 | 2.124 | DISEASES 5457 | POU4F1 | 1.148 | DISEASES 5515 | PPP2CA | 1.138 | DISEASES 5537 | PPP6C | 1.123 | DISEASES 5873 | RAB27A | 1.917 | DISEASES 343035 | RD3 | 1.373 | DISEASES 22999 | RIMS1 | 1.859 | DISEASES 6091 | ROBO1 | 1.048 | DISEASES 6103 | RPGR | 4.087 | DISEASES 57096 | RPGRIP1 | 2.152 | DISEASES 51460 | SFMBT1 | 1.941 | DISEASES 6477 | SIAH1 | 1.201 | DISEASES 6478 | SIAH2 | 2.525 | DISEASES 9498 | SLC4A8 | 2.619 | DISEASES 6622 | SNCA | 1.032 | DISEASES 10615 | SPAG5 | 2.069 | DISEASES 161497 | STRC | 1.934 | DISEASES 129685 | TAF8 | 1.764 | DISEASES 51616 | TAF9B | 3.134 | DISEASES 6975 | TECTB | 2.519 | DISEASES 25893 | TRIM58 | 2.498 | DISEASES 11078 | TRIOBP | 2.308 | DISEASES 10103 | TSPAN1 | 1.707 | DISEASES 130507 | UBR3 | 3.094 | DISEASES 8725 | URI1 | 1.426 | DISEASES 55591 | VEZT | 2.839 | DISEASES 124997 | WDR81 | 4.467 | DISEASES 29062 | WDR91 | 4.958 | DISEASES 23038 | WDTC1 | 1.003 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 257 |
|---|---|
| Disease | usher syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:34) HP:0000639 | Nystagmus HP:0000670 | Carious teeth HP:0000518 | Cataract HP:0000682 | Abnormality of dental enamel HP:0100543 | Cognitive impairment HP:0000545 | Myopia HP:0003198 | Myopathy HP:0000512 | Abnormal electroretinogram HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0001251 | Ataxia HP:0000618 | Blindness HP:0011073 | Abnormality of dental color HP:0008499 | High-grade hypermetropia HP:0011025 | Abnormality of cardiovascular system physiology HP:0001639 | Hypertrophic cardiomyopathy HP:0002120 | Cerebral cortical atrophy HP:0000407 | Sensorineural hearing impairment HP:0000739 | Anxiety HP:0003457 | EMG abnormality HP:0000483 | Astigmatism HP:0000709 | Psychosis HP:0000529 | Progressive visual loss HP:0007703 | Abnormality of retinal pigmentation HP:0000144 | Decreased fertility HP:0001751 | Vestibular dysfunction HP:0010780 | Hyperacusis HP:0000691 | Microdontia HP:0000505 | Visual impairment HP:0001123 | Visual field defect HP:0000738 | Hallucinations HP:0000716 | Depression HP:0008568 | Vestibular areflexia HP:0000360 | Tinnitus HP:0000662 | Nyctalopia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0000618 | Blindness | 4 HP:0000554 | Uveitis | 3 HP:0000365 | Hearing impairment | 3 HP:0000510 | Retinitis pigmentosa | 2 HP:0000708 | Behavioral problems | 2 HP:0001297 | Cerebral vascular events | 1 HP:0000572 | Visual loss | 1 HP:0006297 | Hypoplasia of tooth enamel | 1 HP:0012122 | Anterior uveitis | 1 HP:0001263 | Developmental retardation | 1 HP:0000546 | Retinal degeneration | 1 |
| Disease ID | 257 |
|---|---|
| Disease | usher syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:16) C2029884 | hearing loss C1963229 | retinal detachment C1384666 | hearing impairment C0581883 | deafness C0524801 | retinal tumor C0456909 | blindness C0268563 | sarcosinaemia C0086543 | cataracts C0036454 | visual field loss C0035334 | retinitis pigmentosa C0035321 | retinal tear C0035309 | retinal disease C0035304 | retinal degenerations C0033975 | psychosis C0024441 | macular holes C0004096 | bronchial asthma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0456909 | blindness | 4 C0011053 | deafness | 2 C0035334 | retinitis pigmentosa | 2 C1384666 | hearing impairment | 1 C1384666 | hearing loss | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203888 | NA | 4575 | TRNS2 | umls:C0271097 | CLINVAR | NA | 0.12 | NA | NA | MT | 12258 | C | A |
| rs137852840 | 17171570 | 25861 | DFNB31 | umls:C0271097 | BeFree | Sequence analysis of DFNB31 revealed compound heterozygosity for a nonsense mutation, p.Q103X, in exon 1, and a mutation in the splice donor site of exon 2, c.837+1G>A. DFNB31 mutations appear to be a rare cause of Usher syndrome, since no mutations were identified in an additional 96 USH2 patients. | 0.00617715 | 2007 | DFNB31 | 9 | 114504495 | G | A |
| rs397517925 | 16283141 | 124590 | USH1G | umls:C0271097 | BeFree | A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. | 0.011268532 | 2005 | USH1G | 17 | 74919463 | 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:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000529 | Progressive visual loss | MP:0010749 | absent visual evoked potential | absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0011073 | Abnormality of dental color | 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:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| 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:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001123 | Visual field defect | MP:0010402 | ventricular septal defect | abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions |
| HP:0000144 | Decreased fertility | MP:0008975 | delayed male fertility | ability of a male organism to produce live offspring occurring at a later than expected age |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0007703 | Abnormality of retinal pigmentation | 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:0000682 | Abnormality of dental enamel | 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 |
Mapped by homologous gene(Total Items:33) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000529 | Progressive visual loss | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000662 | Nyctalopia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008568 | Vestibular areflexia | MP:0014091 | abnormal tectorial membrane striated-sheet matrix morphology | any structural anomaly of the laminated, striated-sheet matrix within which collagen fibrils of the TM are imbedded; the striated sheet matrix is formed by two types of fine-diameter collagen filaments, a light and a dark staining type that lie in paralle |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0000360 | Tinnitus | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | 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:0001123 | Visual field defect | 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:0001639 | Hypertrophic cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000483 | Astigmatism | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0011073 | Abnormality of dental color | 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:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0010780 | Hyperacusis | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000512 | Abnormal electroretinogram | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000709 | Psychosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001751 | Vestibular dysfunction | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0008499 | High-grade hypermetropia | 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: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:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000738 | Hallucinations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000144 | Decreased fertility | 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 | 257 |
|---|---|
| Disease | usher syndrome |
| Case | (Waiting for update.) |