eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| camurati-engelmann disease | ||||
| Disease ID | 274 |
|---|---|
| Disease | camurati-engelmann disease |
| Definition | An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder. |
| Synonym | caend camurati engelmann disease camurati engelmann syndrome camurati engelmanns disease camurati-engelmann syndrome camurati-engelmann syndrome [disease/finding] craniodiaphyseal osteosclerosis diaphyseal dysplasia diaphyseal dysplasia (disorder) diaphyseal dysplasia, progressive diaphyseal dysplasias, progressive diaphyseal hyperostosis diaphyseal osteosclerosis diaphyseal sclerosis dysplasia, progressive diaphyseal dysplasias, progressive diaphyseal engelman's disease engelman's disease (disorder) engelmann dis engelmann disease engelmann syndrome engelmann's disease engelmanns dis increased bone density in shaft of long bone osteopathia hyperostotica multiplex infantilis osteopathia hyperostotica multiplex infantis progressive diaphyseal dysplasia progressive diaphyseal dysplasia (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0011989 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0002871 | anemia | 2 C0030353 | papilledema | 1 C0020492 | hyperostosis | 1 C0028754 | obesity | 1 C0020619 | hypogonadism | 1 C0030353 | papilloedema | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:23) 85365 | ALG2 | 3.608 | DISEASES 249 | ALPL | 2.866 | DISEASES 632 | BGLAP | 1.893 | DISEASES 796 | CALCA | 2.156 | DISEASES 2261 | FGFR3 | 1.128 | DISEASES 2316 | FLNA | 1.278 | DISEASES 2778 | GNAS | 1.264 | DISEASES 3594 | IL12RB1 | 2.24 | DISEASES 51135 | IRAK4 | 2.405 | DISEASES 4017 | LOXL2 | 2.249 | DISEASES 56955 | MEPE | 2.395 | DISEASES 4487 | MSX1 | 2.161 | DISEASES 4615 | MYD88 | 1.061 | DISEASES 5745 | PTH1R | 1.922 | DISEASES 860 | RUNX2 | 1.986 | DISEASES 6261 | RYR1 | 1.894 | DISEASES 8878 | SQSTM1 | 1.512 | DISEASES 6916 | TBXAS1 | 2.314 | DISEASES 54790 | TET2 | 1.809 | DISEASES 7046 | TGFBR1 | 3.328 | DISEASES 7048 | TGFBR2 | 2.335 | DISEASES 55858 | TMEM165 | 3.679 | DISEASES 8792 | TNFRSF11A | 1.613 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) TGFB1 | 19q13.1 |
| Disease ID | 274 |
|---|---|
| Disease | camurati-engelmann disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:54) HP:0000670 | Carious teeth HP:0000520 | Proptosis HP:0005464 | Craniofacial osteosclerosis HP:0002653 | Bone pain HP:0002818 | Abnormality of the radius HP:0000365 | Hearing impairment HP:0000929 | Abnormality of the skull HP:0001533 | Slender build HP:0010628 | Facial palsy HP:0001376 | Limitation of joint mobility HP:0100255 | Metaphyseal dysplasia HP:0002644 | Abnormality of pelvic girdle bone morphology HP:0000135 | Hypogonadism HP:0002673 | Coxa valga HP:0003565 | Elevated erythrocyte sedimentation rate HP:0001251 | Ataxia HP:0002652 | Skeletal dysplasia HP:0002007 | Frontal bossing HP:0001882 | Leukopenia HP:0000016 | Urinary retention HP:0003063 | Abnormality of the humerus HP:0003307 | Hyperlordosis HP:0002167 | Neurological speech impairment HP:0100774 | Hyperostosis HP:0000684 | Delayed eruption of teeth HP:0001639 | Hypertrophic cardiomyopathy HP:0002823 | Abnormality of the femur HP:0003202 | Skeletal muscle atrophy HP:0001903 | Anemia HP:0008872 | Feeding difficulties in infancy HP:0007552 | Abnormal subcutaneous fat tissue distribution HP:0000925 | Abnormality of the vertebral column HP:0000763 | Sensory neuropathy HP:0002997 | Abnormality of the ulna HP:0002650 | Scoliosis HP:0001999 | Abnormal facial shape HP:0002808 | Kyphosis HP:0002992 | Abnormality of the tibia HP:0000648 | Optic atrophy HP:0000823 | Delayed puberty HP:0002240 | Hepatomegaly HP:0002857 | Genu valgum HP:0002515 | Waddling gait HP:0001744 | Splenomegaly HP:0004326 | Cachexia HP:0006501 | Aplasia/Hypoplasia of the radius HP:0007807 | Optic nerve compression HP:0001324 | Muscle weakness HP:0001763 | Pes planus HP:0005791 | Cortical thickening of long bone diaphyses HP:0012544 | Elevated aldolase level HP:0000501 | Glaucoma HP:0002039 | Anorexia HP:0000940 | Abnormal diaphysis morphology |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0002653 | Bone pain | 3 HP:0012531 | Pain | 2 HP:0001903 | Anemia | 2 HP:0005505 | Refractory anemia | 1 HP:0001085 | Papilledema | 1 HP:0000135 | Hypogonadism | 1 HP:0100774 | Hyperostosis | 1 HP:0001513 | Obesity | 1 HP:0000832 | Primary hypothyroidism | 1 |
| Disease ID | 274 |
|---|---|
| Disease | camurati-engelmann disease |
| Manually Symptom | (Waiting for update.) |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894719 | NA | 7040 | TGFB1 | umls:C0011989 | CLINVAR | NA | 0.489977336 | NA | TGFB1 | 19 | 41342209 | A | G |
| rs104894720 | NA | 7040 | TGFB1 | umls:C0011989 | CLINVAR | NA | 0.489977336 | NA | TGFB1 | 19 | 41342229 | C | T |
| rs104894721 | NA | 7040 | TGFB1 | umls:C0011989 | CLINVAR | NA | 0.489977336 | NA | TGFB1 | 19 | 41342230 | G | A |
| rs104894721 | 23729546 | 7040 | TGFB1 | umls:C0011989 | BeFree | Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia and menstrual irregularity. | 0.489977336 | 2013 | TGFB1 | 19 | 41342230 | G | A |
| rs104894722 | NA | 7040 | TGFB1 | umls:C0011989 | CLINVAR | NA | 0.489977336 | NA | TGFB1 | 19 | 41342215 | A | T,G,C |
| rs111033611 | NA | 7040 | TGFB1 | umls:C0011989 | CLINVAR | NA | 0.489977336 | NA | TGFB1 | 19 | 41352804 | A | G |
| rs1800470 | NA | 7040 | TGFB1 | umls:C0011989 | CLINVAR | NA | 0.489977336 | NA | TGFB1 | 19 | 41353016 | G | 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:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0001999 | Abnormal facial shape | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | MP:0002086 | abnormal extraembryonic tissue morphology | any structural anomaly of the membranes involved with embryonic protection and nutrition |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0002997 | Abnormality of the ulna | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0006501 | Aplasia/Hypoplasia of the radius | 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:0002823 | Abnormality of the femur | 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:0000648 | Optic 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:0000925 | Abnormality of the vertebral column | MP:0009005 | abnormal sesamoid bone of gastrocnemius morphology | any structural anomaly of the small sesamoid bones situated behind the condyles of the femur |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0008770 | decreased survivor rate | a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls |
| HP:0002992 | Abnormality of the tibia | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0002515 | Waddling gait | MP:0001406 | abnormal gait | abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0005791 | Cortical thickening of long bone diaphyses | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| 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:0005464 | Craniofacial osteosclerosis | MP:0005422 | osteosclerosis | abnormal hardening or eburnation (change in exposed subchondral bone in degenerative joint disease in which bone is converted into a dense substance with a smooth surface) of bone |
| HP:0000684 | Delayed eruption 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 |
Mapped by homologous gene(Total Items:52) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005464 | Craniofacial osteosclerosis | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| HP:0003307 | Hyperlordosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0007807 | Optic nerve compression | MP:0013467 | diaphragmitis | inflammation of the diaphragm |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0002515 | Waddling gait | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002673 | Coxa valga | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0006501 | Aplasia/Hypoplasia of the radius | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000135 | Hypogonadism | 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:0000925 | Abnormality of the vertebral column | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000940 | Abnormal diaphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000929 | Abnormality of the skull | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0003063 | Abnormality of the humerus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002997 | Abnormality of the ulna | 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:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100774 | Hyperostosis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| 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:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001882 | Leukopenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002992 | Abnormality of the tibia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0008872 | Feeding difficulties in infancy | 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:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001533 | Slender build | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100255 | Metaphyseal dysplasia | 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:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0001763 | Pes planus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002823 | Abnormality of the femur | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005791 | Cortical thickening of long bone diaphyses | MP:0013467 | diaphragmitis | inflammation of the diaphragm |
| HP:0002007 | Frontal bossing | 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:0000648 | Optic atrophy | 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:0000016 | Urinary retention | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000763 | Sensory neuropathy | 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 |
| Disease ID | 274 |
|---|---|
| Disease | camurati-engelmann disease |
| Case | (Waiting for update.) |