eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| nail-patella syndrome | ||||
| Disease ID | 417 |
|---|---|
| Disease | nail-patella syndrome |
| Definition | A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait. |
| Synonym | disease, fong fong disease fong syndrome hereditary onycho-osteodysplasia hereditary osteo-onychodysplasia hereditary osteo-onychodysplasias nail patella syndrome nail-patella syndrome (disorder) nail-patella syndrome [disease/finding] nps nps1 onychoosteodysplasia osteo onychodysplasia, hereditary osteo-onychodysplasia, hereditary osteo-onychodysplasias, hereditary osterreicher syndrome pelvic horn syndrome syndrome, nail-patella syndrome, osterreicher syndrome, pelvic horn syndrome, turner-kieser turner kieser syndrome turner-kieser syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0027341 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:34) 375790 | AGRN | 1.654 | DISEASES 203 | AK1 | 5.16 | DISEASES 50808 | AK3 | 1.715 | DISEASES 205 | AK4 | 1.311 | DISEASES 10123 | ARL4C | 3.391 | DISEASES 488 | ATP2A2 | 1.459 | DISEASES 23607 | CD2AP | 3.232 | DISEASES 10370 | CITED2 | 2.176 | DISEASES 1282 | COL4A1 | 2.759 | DISEASES 1285 | COL4A3 | 3.041 | DISEASES 1286 | COL4A4 | 3.777 | DISEASES 1287 | COL4A5 | 2.379 | DISEASES 1289 | COL5A1 | 4.484 | DISEASES 1621 | DBH | 1.561 | DISEASES 2066 | ERBB4 | 1.055 | DISEASES 2131 | EXT1 | 1.441 | DISEASES 2296 | FOXC1 | 1.652 | DISEASES 8323 | FZD6 | 2.545 | DISEASES 2934 | GSN | 2.108 | DISEASES 3339 | HSPG2 | 1.044 | DISEASES 8861 | LDB1 | 4.339 | DISEASES 4010 | LMX1B | 8.129 | DISEASES 9241 | NOG | 1.323 | DISEASES 7827 | NPHS2 | 4.043 | DISEASES 2516 | NR5A1 | 1.442 | DISEASES 2649 | NR6A1 | 2.235 | DISEASES 5076 | PAX2 | 2.277 | DISEASES 7849 | PAX8 | 1.046 | DISEASES 5727 | PTCH1 | 1.725 | DISEASES 11346 | SYNPO | 1.724 | DISEASES 1861 | TOR1A | 1.693 | DISEASES 11277 | TREX1 | 1.942 | DISEASES 7490 | WT1 | 1.143 | DISEASES 7507 | XPA | 1.154 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) LMX1B | 9q33.3 |
| Disease ID | 417 |
|---|---|
| Disease | nail-patella syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:32) HP:0000518 | Cataract HP:0000365 | Hearing impairment HP:0001373 | Joint dislocation HP:0002999 | Patellar dislocation HP:0000093 | Proteinuria HP:0001807 | Ridged nail HP:0000083 | Renal insufficiency HP:0009780 | Iliac horns HP:0100820 | Glomerulopathy HP:0006650 | Thickening of the lateral border of the scapula HP:0002652 | Skeletal dysplasia HP:0005692 | Joint hyperflexibility HP:0000822 | Hypertension HP:0000112 | Nephropathy HP:0006498 | Aplasia/Hypoplasia of the patella HP:0000790 | Hematuria HP:0008388 | Abnormality of the toenails HP:0002633 | Vasculitis HP:0001386 | Joint swelling HP:0002814 | Abnormality of the lower limb HP:0002758 | Osteoarthritis HP:0001598 | Concave nail HP:0009811 | Abnormality of the elbow HP:0001800 | Hypoplastic toenails HP:0010624 | Aplastic/hypoplastic toenail HP:0001387 | Joint stiffness HP:0002967 | Cubitus valgus HP:0100777 | Exostoses HP:0000100 | Nephrotic syndrome HP:0002817 | Abnormality of the upper limb HP:0000501 | Glaucoma HP:0001231 | Abnormality of the fingernails |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 417 |
|---|---|
| Disease | nail-patella syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:9) |
| 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:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909486 | NA | 4010 | LMX1B | umls:C0027341 | CLINVAR | NA | 0.592109593 | NA | LMX1B | 9 | 126693589 | C | A,T |
| rs121909487 | NA | 4010 | LMX1B | umls:C0027341 | CLINVAR | NA | 0.592109593 | NA | LMX1B | 9 | 126693243 | C | T |
| rs121909488 | NA | 4010 | LMX1B | umls:C0027341 | CLINVAR | NA | 0.592109593 | NA | LMX1B | 9 | 126690862 | G | T |
| rs121909489 | NA | 4010 | LMX1B | umls:C0027341 | CLINVAR | NA | 0.592109593 | NA | LMX1B;LOC105376277 | 9 | 126615487 | C | T |
| rs121909490 | NA | 4010 | LMX1B | umls:C0027341 | CLINVAR | NA | 0.592109593 | NA | LMX1B | 9 | 126693273 | C | T |
| rs121909491 | NA | 4010 | LMX1B | umls:C0027341 | CLINVAR | NA | 0.592109593 | NA | LMX1B | 9 | 126693250 | G | A |
| rs121909492 | NA | 4010 | LMX1B | umls:C0027341 | CLINVAR | NA | 0.592109593 | NA | LMX1B | 9 | 126693527 | C | T |
| rs28939692 | 11668639 | 4010 | LMX1B | umls:C0027341 | UNIPROT | Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients. | 0.592109593 | 2001 | NA | NA | NA | NA | NA |
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:0006498 | Aplasia/Hypoplasia of the patella | MP:0005359 | growth retardation of incisors | developmental delay of the growth of the incisors, the long pointed teeth, most anterior and prominent in the jaw |
| HP:0006650 | Thickening of the lateral border of the scapula | MP:0008494 | absence of all nails | absence of all of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits |
| HP:0001807 | Ridged nail | MP:0012405 | abnormal nail matrix morphology | any structural anomaly of the nail-forming area of the nail bed comprised of a germinal matrix, responsible for most of the nail production, and the sterile matrix, a secondary site of nail production which is tightly adherent to the nail plate |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| 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:0002817 | Abnormality of the upper limb | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0008388 | Abnormality of the toenails | 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:0001231 | Abnormality of the fingernails | 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:0001386 | Joint swelling | MP:0002936 | joint swelling | enlargement of the joints, usually due to an accumulation of fluid |
| HP:0002814 | Abnormality of the lower limb | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0009811 | Abnormality of the elbow | MP:0008158 | increased diameter of femur | increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge |
Mapped by homologous gene(Total Items:32) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002758 | Osteoarthritis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000112 | Nephropathy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010624 | Aplastic/hypoplastic toenail | 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 |
| 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:0006650 | Thickening of the lateral border of the scapula | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| 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:0006498 | Aplasia/Hypoplasia of the patella | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0000093 | Proteinuria | 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:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001373 | Joint dislocation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002817 | Abnormality of the upper limb | MP:0013205 | abnormal nonmotile primary cilium morphology | any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate a |
| HP:0008388 | Abnormality of the toenails | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0009811 | Abnormality of the elbow | 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:0001800 | Hypoplastic toenails | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002967 | Cubitus valgus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009780 | Iliac horns | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001807 | Ridged nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000100 | Nephrotic syndrome | 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:0001386 | Joint swelling | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001598 | Concave nail | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0002999 | Patellar dislocation | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0100777 | Exostoses | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002814 | Abnormality of the lower limb | MP:0013616 | decreased volumetric bone mineral density | reduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usual |
| HP:0000822 | Hypertension | 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 |
| Disease ID | 417 |
|---|---|
| Disease | nail-patella syndrome |
| Case | (Waiting for update.) |