eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| majeed syndrome | ||||
| Disease ID | 681 |
|---|---|
| Disease | majeed syndrome |
| Definition | An autoinflammatory disease caused by mutations in the LPIN2 gene. It is characterized by early-onset chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and inflammatory dermatosis. |
| Synonym | chronic recurrent multifocal osteomyelitis, congenital chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and neutrophilic dermatosis chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (disorder) chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis dyserythropoietic anemia, and neutrophilic dermatosis mjds |
| Orphanet | |
| OMIM | |
| UMLS | C1864997 |
| SNOMED-CT | |
| 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) LPIN2 | 18p11.31 |
| Disease ID | 681 |
|---|---|
| Disease | majeed syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:32) HP:0200039 | Pustule HP:0001061 | Acne HP:0005901 | Chronic recurrent multifocal osteomyelitis HP:0003025 | Metaphyseal irregularity HP:0002653 | Bone pain HP:0001824 | Weight loss HP:0004810 | Congenital hypoplastic anemia HP:0011123 | Inflammatory abnormality of the skin HP:0002907 | Microscopic hematuria HP:0000093 | Proteinuria HP:0002829 | Arthralgia HP:0001371 | Flexion contracture HP:0003326 | Myalgia HP:0100820 | Glomerulopathy HP:0100769 | Synovitis HP:0002113 | Pulmonary infiltrates HP:0002659 | Increased susceptibility to fractures HP:0012647 | Abnormal inflammatory response HP:0004840 | Hypochromic microcytic anemia HP:0002024 | Malabsorption HP:0011001 | Increased bone mineral density HP:0001945 | Fever HP:0001508 | Failure to thrive HP:0002240 | Hepatomegaly HP:0012735 | Cough HP:0001744 | Splenomegaly HP:0001974 | Leukocytosis HP:0004326 | Cachexia HP:0005561 | Abnormality of bone marrow cell morphology HP:0200034 | Papule HP:0002315 | Headache HP:0000969 | Edema |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 681 |
|---|---|
| Disease | majeed syndrome |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs318240736 | NA | 9663 | LPIN2 | umls:C1864997 | CLINVAR | NA | 0.561085767 | NA | LPIN2 | 18 | 2931395 | AG | - |
| rs80338806 | NA | 9663 | LPIN2 | umls:C1864997 | CLINVAR | NA | 0.561085767 | NA | LPIN2 | 18 | 2951104 | AT | - |
| rs80338807 | NA | 9663 | LPIN2 | umls:C1864997 | CLINVAR | NA | 0.561085767 | NA | LPIN2 | 18 | 2922173 | G | A |
| rs80338808 | NA | 9663 | LPIN2 | umls:C1864997 | CLINVAR | NA | 0.561085767 | NA | LPIN2 | 18 | 2922046 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002907 | Microscopic hematuria | MP:0005161 | hematuria | presence of blood in the urine |
| HP:0004840 | Hypochromic microcytic anemia | MP:0002810 | microcytic anemia | a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin s |
| HP:0002659 | Increased susceptibility to fractures | MP:0009788 | increased susceptibility to bacterial infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria |
| HP:0004810 | Congenital hypoplastic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| 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:0005561 | Abnormality of bone marrow cell morphology | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012735 | Cough | 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 |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004840 | Hypochromic microcytic anemia | MP:0011101 | prenatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) |
| HP:0100769 | Synovitis | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0002113 | Pulmonary infiltrates | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001371 | Flexion contracture | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003025 | Metaphyseal irregularity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001061 | Acne | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| 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: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:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0200039 | Pustule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0005561 | Abnormality of bone marrow cell morphology | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0002907 | Microscopic hematuria | MP:0013258 | abnormal extracellular matrix morphology | any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell |
| HP:0200034 | Papule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0002659 | Increased susceptibility to fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001974 | Leukocytosis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0004810 | Congenital hypoplastic anemia | 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 |
| Disease ID | 681 |
|---|---|
| Disease | majeed syndrome |
| Case | (Waiting for update.) |