eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dyschondrosteosis | ||||
| Disease ID | 396 |
|---|---|
| Disease | dyschondrosteosis |
| Definition | A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement. |
| Synonym | dco dyschondrosteosis (disorder) leri-weil syndrome leri-weill dyschondrosteosis leri-weill dyschondrosteosis (disorder) leri-weill syndrome lwd léri-weill dyschondrosteosis |
| Orphanet | |
| OMIM | |
| UMLS | C0265309 |
| 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:22) 176 | ACAN | 1.706 | DISEASES 415 | ARSE | 3.254 | DISEASES 438 | ASMT | 2.613 | DISEASES 537 | ATP6AP1 | 2.966 | DISEASES 1280 | COL2A1 | 2.069 | DISEASES 1490 | CTGF | 1.408 | DISEASES 2261 | FGFR3 | 2.856 | DISEASES 27022 | FOXD3 | 1.943 | DISEASES 4935 | GPR143 | 2.484 | DISEASES 1482 | NKX2-5 | 1.275 | DISEASES 4879 | NPPB | 2.148 | DISEASES 4882 | NPR2 | 2.423 | DISEASES 860 | RUNX2 | 1.517 | DISEASES 864 | RUNX3 | 1.085 | DISEASES 6473 | SHOX | 8.269 | DISEASES 6474 | SHOX2 | 4.931 | DISEASES 6658 | SOX3 | 2.125 | DISEASES 6660 | SOX5 | 3.236 | DISEASES 55553 | SOX6 | 3.169 | DISEASES 8878 | SQSTM1 | 3.07 | DISEASES 6736 | SRY | 3.109 | DISEASES 51481 | VCX3A | 2.968 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 396 |
|---|---|
| Disease | dyschondrosteosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:23) HP:0002986 | Bowed radii HP:0006459 | Dorsal subluxation of ulna HP:0003102 | Increased carrying angle HP:0001832 | Abnormality of the metatarsal bones HP:0008873 | Dwarfism, short-limbed HP:0003063 | Abnormality of the humerus HP:0005736 | Short tibia HP:0001831 | Short toes HP:0001191 | Carpal bone anomalies HP:0003712 | Hypertrophic muscles HP:0003022 | Short ulna HP:0002982 | Bowed tibia HP:0006248 | Limited wrist movement HP:0002996 | Decreased elbow mobility HP:0003038 | Hypoplastic fibula HP:0000218 | Increased palatal height HP:0002650 | Scoliosis HP:0003027 | Mesomelia HP:0010044 | Shortened 4th long bone of hand HP:0003067 | Madelung wrist deformity HP:0002984 | Hypoplastic radius HP:0002673 | Coxa valga HP:0002762 | Multiple exostoses |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 396 |
|---|---|
| Disease | dyschondrosteosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0018777 | conductive hearing loss |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| Xp22.33 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852553 | NA | 6473 | SHOX | umls:C0265309 | CLINVAR | NA | 0.497643722 | NA | SHOX | Y;X | 641051;641051 | C | G,T |
| rs137852554 | NA | 6473 | SHOX | umls:C0265309 | CLINVAR | NA | 0.497643722 | NA | SHOX | Y;X | 634734;634734 | C | G |
| rs137852555 | NA | 6473 | SHOX | umls:C0265309 | CLINVAR | NA | 0.497643722 | NA | SHOX | Y;X | 634798;634798 | G | T |
| rs137852556 | NA | 6473 | SHOX | umls:C0265309 | CLINVAR | NA | 0.497643722 | NA | SHOX | Y;X | 640851;640851 | C | T |
| rs137852557 | NA | 6473 | SHOX | umls:C0265309 | CLINVAR | NA | 0.497643722 | NA | SHOX | Y;X | 640836;640836 | C | T |
| rs137852558 | NA | 6473 | SHOX | umls:C0265309 | CLINVAR | NA | 0.497643722 | NA | SHOX | Y;X | 634644;634644 | G | T |
| rs137852559 | NA | 6473 | SHOX | umls:C0265309 | CLINVAR | NA | 0.497643722 | NA | SHOX | Y;X | 644634;644634 | T | C |
| rs397514461 | NA | 6473 | SHOX | umls:C0265309 | CLINVAR | NA | 0.497643722 | NA | SHOX | Y;X | 640842;640842 | G | C |
| rs397514461 | 21712857 | 6473 | SHOX | umls:C0265309 | BeFree | In conclusion, we have identified A170P as the first frequent SHOX mutation in Gypsy LWD and LMD individuals. | 0.497643722 | 2011 | SHOX | Y;X | 640842;640842 | G | C |
| rs397514462 | NA | 6473 | SHOX | umls:C0265309 | CLINVAR | NA | 0.497643722 | NA | SHOX | Y;X | 640843;640843 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003712 | Skeletal muscle hypertrophy | MP:0011774 | abnormal urinary bladder detrusor smooth muscle morphology | any structural anomaly of the bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine |
| HP:0010044 | Short 4th metacarpal | MP:0003073 | abnormal metacarpal bone morphology | any structural anomaly in the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges |
| HP:0001191 | Abnormality of the carpal bones | MP:0004251 | failure of heart looping | failure of the primitive heart tube to loop asymmetrically during early development |
| HP:0002984 | Hypoplasia of the radius | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0005736 | Short tibia | MP:0002764 | short tibia | reduced length of the medial and larger bone of the lower leg |
| HP:0003038 | Fibular hypoplasia | MP:0010881 | esophagus hypoplasia | underdevelopment or decreased size of the esophagus, usually due a reduced number of cells |
| 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:0003063 | Abnormality of the humerus | 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: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:0008873 | Disproportionate short-limb short stature | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003067 | Madelung deformity | MP:0013400 | abnormal endometrial gland development | aberrant formation or incomplete differentiation of the simple or branched tubular glands found in the mucus membrane of the uterus |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005736 | Short tibia | MP:0013400 | abnormal endometrial gland development | aberrant formation or incomplete differentiation of the simple or branched tubular glands found in the mucus membrane of the uterus |
| HP:0002996 | Limited elbow movement | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0002762 | Multiple exostoses | MP:0012760 | decreased cranial neural crest cell proliferation | reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division |
| HP:0002984 | Hypoplasia of the radius | 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: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:0003038 | Fibular hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002982 | Tibial bowing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002986 | Radial bowing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001831 | Short toe | 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:0003063 | Abnormality of the humerus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003712 | Skeletal muscle hypertrophy | 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:0003027 | Mesomelia | 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:0008873 | Disproportionate short-limb short stature | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010044 | Short 4th metacarpal | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| 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:0006248 | Limited wrist movement | 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:0002673 | Coxa valga | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001191 | Abnormality of the carpal bones | MP:0011953 | prolonged PQ interval | increase in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave |
| Disease ID | 396 |
|---|---|
| Disease | dyschondrosteosis |
| Case | (Waiting for update.) |