eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| osteopetrosis with renal tubular acidosis | ||||
| Disease ID | 828 |
|---|---|
| Disease | osteopetrosis with renal tubular acidosis |
| Definition | A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcifications. It results in growth failure, mental retardation, and fractures. |
| Synonym | autosomal recessive osteopetrosis 3 autosomal recessive osteopetrosis, type 3 ca2 - osteopetrosis with renal tubular acidosis carbonic anhydrase 2 deficiency carbonic anhydrase ii deficiency guibaud vainsel syndrome guibaud-vainsel syndrome marble brain disease optb3 osteopetrosis with renal tubular acidosis (disorder) osteopetrosis, autosomal recessive 3 |
| Orphanet | |
| OMIM | |
| UMLS | C0345407 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) CA2 | 8q21.2 |
| Disease ID | 828 |
|---|---|
| Disease | osteopetrosis with renal tubular acidosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:36) HP:0001263 | Global developmental delay HP:0000670 | Carious teeth HP:0000689 | Misalignment of upper and lower dental arches HP:0002135 | Basal ganglia calcification HP:0002653 | Bone pain HP:0004437 | Hyperostosis of cranial bones HP:0005930 | Abnormality of epiphysis morphology HP:0000572 | Visual loss HP:0003034 | Diaphyseal osteosclerosis HP:0004322 | Stature below 3rd percentile HP:0001873 | Thrombocytopenia HP:0000303 | Mandibular prognathia HP:0006482 | Abnormality of dental morphology HP:0009830 | Peripheral neuropathy HP:0001433 | Enlarged liver and spleen HP:0001903 | Anemia HP:0001249 | Mental retardation HP:0003148 | Elevated serum acid phosphatase HP:0002757 | Recurrent fractures HP:0002514 | Cerebral calcification HP:0001508 | Failure to thrive HP:0011002 | Osteopetrosis HP:0000648 | Optic atrophy HP:0008341 | Renal tubular acidosis, type I HP:0002240 | Hepatomegaly HP:0002857 | Genu valgum HP:0008153 | Hypokalemic periodic paresis HP:0001249 | Intellectual disability HP:0001744 | Splenomegaly HP:0007807 | Optic nerve compression HP:0000505 | Visual impairment HP:0010885 | Aseptic necrosis HP:0004349 | Reduced bone mineral density HP:0000689 | Dental malocclusion HP:0001978 | Extramedullary hematopoiesis HP:0000091 | Abnormality of the renal tubule |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 828 |
|---|---|
| Disease | osteopetrosis with renal tubular acidosis |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203933 | NA | 760 | CA2 | umls:C0345407 | CLINVAR | NA | 0.561900093 | NA | CA2 | 8 | 85473779 | C | T |
| rs118203934 | NA | 760 | CA2 | umls:C0345407 | CLINVAR | NA | 0.561900093 | NA | CA2;LOC100996348 | 8 | 85465357 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000689 | Dental malocclusion | MP:0000120 | malocclusion | perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth |
| HP:0008341 | Distal renal tubular acidosis | MP:0000525 | renal tubular acidosis | a clinical syndrome characterized by the inability to acidify urine |
| HP:0000091 | Abnormality of the renal tubule | 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:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0001978 | Extramedullary hematopoiesis | MP:0000240 | extramedullary hematopoiesis | formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0013621 | decreased internal diameter of femur | reduced 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:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| 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:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0006482 | Abnormality of dental morphology | 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:0003148 | Elevated serum acid phosphatase | MP:0002968 | increased circulating alkaline phosphatase level | elevated concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters |
| HP:0010885 | Aseptic necrosis | MP:0001654 | hepatic necrosis | morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| 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:34) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004437 | Cranial hyperostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011002 | Osteopetrosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000689 | Dental malocclusion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0003148 | Elevated serum acid phosphatase | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007807 | Optic nerve compression | MP:0013467 | diaphragmitis | inflammation of the diaphragm |
| HP:0000091 | Abnormality of the renal tubule | 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:0004322 | Short stature | 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:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0008341 | Distal renal tubular acidosis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| HP:0001508 | Failure to thrive | 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:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001873 | Thrombocytopenia | 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:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001433 | Hepatosplenomegaly | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0010885 | Aseptic necrosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001263 | Global developmental delay | 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:0002135 | Basal ganglia calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0002514 | Cerebral calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0003034 | Diaphyseal sclerosis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0008153 | Periodic hypokalemic paresis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0001978 | Extramedullary hematopoiesis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| 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:0006482 | Abnormality of dental morphology | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| Disease ID | 828 |
|---|---|
| Disease | osteopetrosis with renal tubular acidosis |
| Case | (Waiting for update.) |