eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| poems syndrome | ||||
| Disease ID | 984 |
|---|---|
| Disease | poems syndrome |
| Definition | A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62) |
| Synonym | crow fukase syndrome crow-fukase syndrome organomegalies, polyneuropathy organomegaly, polyneuropathy poem syndrome poems poems - polyneuropathy organomegaly endocrinopathy monoclonal and skin changes poems syndrome (disorder) poems syndrome [disease/finding] polyneuropathy organomegalies polyneuropathy organomegaly polyneuropathy organomegaly endocrinopathy monoclonal gammopathy and skin changes polyneuropathy organomegaly endocrinopathy monoclonal gammopathy and skin changes (disorder) polyneuropathy, organomegaly, endocrinopathy, m protein, and skin changes syndrome polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (poems) syndrome polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (poems) syndrome (disorder) polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes syndrome polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes syndrome (disorder) syndrome, crow-fukase syndrome, poems syndrome, takatsuki's takatsuki syndrome takatsuki's syndrome |
| Orphanet | |
| DOID | |
| UMLS | C0085404 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:45) C0442874 | neuropathy | 6 C0152025 | polyneuropathy | 6 C0032131 | plasmacytoma | 4 C0018916 | hemangioma | 4 C0020538 | hypertension | 2 C0024299 | lymphoma | 2 C0020542 | pulmonary hypertension | 2 C0002726 | amyloidosis | 2 C0018916 | hemangiomas | 2 C0006666 | calciphylaxis | 2 C0024419 | waldenstrom macroglobulinemia | 2 C0034063 | pulmonary edema | 2 C0024419 | macroglobulinemia | 2 C0018801 | heart failure | 2 C0031117 | peripheral neuropathy | 2 C0018916 | haemangioma | 1 C0011570 | depression | 1 C1136085 | monoclonal gammopathy | 1 C0007787 | transient ischemic attacks | 1 C0270922 | demyelinating neuropathy | 1 C0032131 | plasmocytoma | 1 C0024419 | waldenstrom's macroglobulinemia | 1 C0042384 | vasculitis | 1 C1136084 | plasma cell dyscrasia | 1 C0018802 | congestive heart failure | 1 C0026764 | plasma cell myeloma | 1 C0030353 | papilledema | 1 C0022660 | acute renal failure | 1 C0026764 | myeloma | 1 C0022658 | nephropathy | 1 C1510415 | osteosclerotic myeloma | 1 C0035078 | renal failure | 1 C0025202 | melanoma | 1 C0040997 | trigeminal neuralgia | 1 C0079744 | diffuse large b-cell lymphoma | 1 C0020541 | portal hypertension | 1 C0079731 | b-cell lymphoma | 1 C0268407 | cardiac amyloidosis | 1 C0270922 | demyelinating polyneuropathy | 1 C0020255 | hydrocephalus | 1 C0033687 | proteinuria | 1 C0026470 | monoclonal gammopathy of undetermined significance | 1 C0042373 | vascular disease | 1 C0007787 | transient ischemic attack | 1 C0032131 | solitary plasmacytoma | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:9) |
| Locus | (Waiting for update.) |
| Disease ID | 984 |
|---|---|
| Disease | poems syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:38) C1963220 | pulmonary hypertension C1963154 | renal failure C1963059 | adrenal insufficiency C1512508 | human herpesvirus 8 infection C1402315 | vascular lesions C1384672 | hypoparathyroidism C1334815 | multicentric castleman's disease C1304511 | glomeruloid hemangioma C1304506 | microvenular hemangioma C1145670 | respiratory failure C1136084 | plasma cell dyscrasia C0878544 | myocardiopathy C0442874 | neuropathy C0346308 | pituitary macroadenoma C0271051 | macular edema C0220989 | acquired partial lipodystrophy C0178703 | hypertrophic osteoarthropathy C0152025 | polyneuropathy C0038454 | strokes C0038454 | stroke C0038454 | cerebral infarction C0037286 | cutaneous tumor C0037284 | skin lesions C0031117 | peripheral neuropathy C0029464 | osteosclerosis C0027121 | inflammatory myopathy C0022658 | renal disease C0022658 | nephropathy C0018939 | hematologic disorders C0018916 | hemangiomas C0018916 | angiomas C0018852 | heavy chain disease C0017531 | castleman's disease C0017531 | castleman disease C0014130 | endocrinopathy C0014130 | endocrine diseases C0006666 | calciphylaxis C0001206 | acromegaly |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:11) C0152025 | polyneuropathy | 6 C0442874 | neuropathy | 5 C0020542 | pulmonary hypertension | 3 C1304511 | glomeruloid hemangioma | 3 C0018916 | hemangiomas | 2 C0031117 | peripheral neuropathy | 2 C0017531 | castleman's disease | 2 C0006666 | calciphylaxis | 2 C1136084 | plasma cell dyscrasia | 1 C0346308 | pituitary macroadenoma | 1 C0035078 | renal failure | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0000818 | Abnormality of the endocrine system | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| HP:0004420 | Arterial thrombosis | MP:0005048 | thrombosis | formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0002694 | Sclerosis of skull base | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0002111 | Restrictive respiratory insufficiency | MP:0002133 | abnormal respiratory system physiology | any functional anomaly of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment |
| HP:0100759 | Clubbing of fingers | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0000953 | Hyperpigmentation of the skin | 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:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0008207 | Primary adrenal insufficiency | MP:0011362 | ectopic adrenal gland | an adrenal gland located outside of its normal position |
| HP:0010702 | Increased antibody level in blood | MP:0012336 | decreased vitamin D level | reduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalci |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:42) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012531 | Pain | MP:0011968 | decreased threshold for auditory brainstem response | reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system |
| HP:0000998 | Hypertrichosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001028 | Hemangioma | 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:0004576 | Sclerotic vertebral endplates | 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:0004979 | Metaphyseal sclerosis | MP:0012114 | absent inner cell mass proliferation | |
| HP:0010702 | Increased antibody level in blood | 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:0009125 | Lipodystrophy | 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:0001284 | Areflexia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0004054 | Sclerosis of hand bone | MP:0011080 | increased macrophage apoptosis | greater incidence of cell death in macrophages |
| HP:0100639 | Erectile abnormalities | 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:0003401 | Paresthesia | 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:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004420 | Arterial thrombosis | 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:0008207 | Primary adrenal insufficiency | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002694 | Sclerosis of skull base | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| 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:0001698 | Pericardial effusion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002202 | Pleural effusion | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0002111 | Restrictive respiratory insufficiency | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0100759 | Clubbing of fingers | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001820 | Leukonychia | MP:0013378 | increased sebocyte number | greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| HP:0000953 | Hyperpigmentation of the skin | 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:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0012378 | Fatigue | 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:0001271 | Polyneuropathy | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| 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:0001901 | Polycythemia | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0000870 | Prolactin excess | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000818 | Abnormality of the endocrine system | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0001063 | Acrocyanosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001085 | Papilledema | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| HP:0004936 | Venous thrombosis | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0001894 | Thrombocytosis | 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:0002747 | Respiratory insufficiency due to muscle weakness | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0005523 | Lymphoproliferative disorder | 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:0000771 | Gynecomastia | 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 |
| Disease ID | 984 |
|---|---|
| Disease | poems syndrome |
| Case | (Waiting for update.) |