eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| nance-horan syndrome | ||||
| Disease ID | 522 |
|---|---|
| Disease | nance-horan syndrome |
| Definition | Nance-Horan syndrome is a rare genetic disorder that may be evident at birth (congenital). It is primarily characterized by abnormalities of the teeth and clouding of the lens of the eyes (congenital cataracts), resulting in poor vision. Additional eye (ocular) abnormalities are also often present, such as unusual smallness of the front, clear portion of the eye through which light passes (microcornea) and involuntary, rapid, rhythmic eye movements (nystagmus). In some cases, the disorder may also be associated with additional physical abnormalities and/or intellectual impairment. The range and severity of symptoms may vary greatly from one person to another, including among affected members of the same family.Nance-Horan syndrome is inherited as an X-linked trait that it is usually fully expressed in males only. However, females who carry a single copy of the disease gene (heterozygotes) may manifest some of the symptoms and findings associated with the disorder. These may include microcornea and/or clouding of the lens of the eyes (posterior sutural cataract). Symptoms are less severe than those of affected males, potentially causing only slightly decreased clearness or clarity of vision (visual acuity). In some cases, abnormalities of the teeth may also be present. Intellectual impairment rarely occurs in females. - NORD Reference: NORD |
| Synonym | cataract, x-linked, with hutchinsonian teeth cataract-dental syndrome mesiodens-cataract syndrome nance-horan syndrome (disorder) nhs |
| Orphanet | |
| OMIM | |
| UMLS | C0796085 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:25) 265 | AMELX | 2.517 | DISEASES 54880 | BCOR | 4.162 | DISEASES 55845 | BRK1 | 4.047 | DISEASES 6792 | CDKL5 | 3.549 | DISEASES 56474 | CTPS2 | 4.427 | DISEASES 1741 | DLG3 | 3.083 | DISEASES 10117 | ENAM | 2.838 | DISEASES 1969 | EPHA2 | 1.976 | DISEASES 2925 | GRPR | 3.288 | DISEASES 2987 | GUK1 | 3.443 | DISEASES 3590 | IL11RA | 3.81 | DISEASES 4810 | NHS | 6.16 | DISEASES 57224 | NHSL1 | 5.87 | DISEASES 340527 | NHSL2 | 5.457 | DISEASES 100506658 | OCLN | 1.579 | DISEASES 5160 | PDHA1 | 2.929 | DISEASES 5475 | PPEF1 | 4.49 | DISEASES 10742 | RAI2 | 6.384 | DISEASES 5931 | RBBP7 | 3.309 | DISEASES 9185 | REPS2 | 5.684 | DISEASES 83695 | RHNO1 | 1.787 | DISEASES 795 | S100G | 3.096 | DISEASES 94056 | SYAP1 | 4.971 | DISEASES 9966 | TNFSF15 | 2.448 | DISEASES 57216 | VANGL2 | 2.925 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) NHS | Xp22.2-p22.13 |
| Disease ID | 522 |
|---|---|
| Disease | nance-horan syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:19) HP:0000639 | Nystagmus HP:0000708 | Behavioral abnormality HP:0000411 | Protruding ear HP:0000426 | Prominent nasal bridge HP:0000568 | Microphthalmia HP:0000303 | Mandibular prognathia HP:0000501 | Glaucoma HP:0000505 | Visual impairment HP:0000518 | Cataract HP:0000276 | Long face HP:0000486 | Strabismus HP:0000541 | Retinal detachment HP:0000572 | Visual loss HP:0001249 | Intellectual disability HP:0000164 | Abnormality of the teeth HP:0000448 | Prominent nose HP:0011069 | Increased number of teeth HP:0010049 | Short metacarpal HP:0000482 | Microcornea |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 522 |
|---|---|
| Disease | nance-horan syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0025362 | mental retardation |
| 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:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894881 | NA | 4810 | NHS | umls:C0796085 | CLINVAR | NA | 0.443257302 | NA | NHS | X | 17375872 | C | T |
| rs132630322 | NA | 4810 | NHS | umls:C0796085 | CLINVAR | NA | 0.443257302 | NA | NHS | X | 17724370 | C | T |
| rs187739639 | 24305999 | 3694 | ITGB6 | umls:C0796085 | BeFree | The male proband of Family 2 was homozygous for an ITGB6 transition mutation in Exon 11 (g.73664C > T c.1846C > T p.Arg616*) and hemizygous for a transition mutation in Exon 6 of Nance-Horan Syndrome (NHS Xp22.13; g.355444T > C c.1697T > C p.Met566Thr). | 0.000271442 | 2014 | NHS | X | 17725866 | T | C |
| rs187739639 | 24305999 | 4810 | NHS | umls:C0796085 | BeFree | The male proband of Family 2 was homozygous for an ITGB6 transition mutation in Exon 11 (g.73664C > T c.1846C > T p.Arg616*) and hemizygous for a transition mutation in Exon 6 of Nance-Horan Syndrome (NHS Xp22.13; g.355444T > C c.1697T > C p.Met566Thr). | 0.443257302 | 2014 | NHS | X | 17725866 | T | C |
| rs770771757 | NA | 4810 | NHS | umls:C0796085 | CLINVAR | NA | 0.443257302 | NA | NHS | X | 17687894 | - | G,GT |
| rs786205255 | NA | 4810 | NHS | umls:C0796085 | CLINVAR | NA | 0.443257302 | NA | NHS | X | 17726556 | - | C |
| rs786205256 | NA | 4810 | NHS | umls:C0796085 | CLINVAR | NA | 0.443257302 | NA | NHS | X | 17727628 | C | - |
| rs786205257 | NA | 4810 | NHS | umls:C0796085 | CLINVAR | NA | 0.443257302 | NA | NHS | X | 17721439 | A | G |
| rs786205677 | NA | 4810 | NHS | umls:C0796085 | CLINVAR | NA | 0.443257302 | NA | NHS | X | 17692468 | 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: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:0000541 | Retinal detachment | MP:0003099 | retinal detachment | detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma |
| HP:0000448 | Prominent nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0011069 | Increased number of teeth | 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:0010049 | Short metacarpal | MP:0004634 | short metacarpal bones | reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges |
| HP:0000426 | Prominent nasal bridge | MP:0009903 | abnormal medial nasal prominence morphology | any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the form |
| HP:0000411 | Protruding ear | MP:0005105 | abnormal middle ear ossicle morphology | any structural anomaly of the three small bones of the middle ear |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
Mapped by homologous gene(Total Items:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000411 | Protruding 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:0000482 | Microcornea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| 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:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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: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:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000426 | Prominent nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000708 | Behavioral abnormality | 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:0000541 | Retinal detachment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000448 | Prominent nose | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0011069 | Increased number of teeth | 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:0000276 | Long face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010049 | Short metacarpal | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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 |
| Disease ID | 522 |
|---|---|
| Disease | nance-horan syndrome |
| Case | (Waiting for update.) |