eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| adiposis dolorosa | ||||
| Disease ID | 684 |
|---|---|
| Disease | adiposis dolorosa |
| Definition | A rare disease characterized by multiple tumor-like fatty deposits that press on nerves in various sites causing pain and weakness. Often these lipoma-like structures are located on the trunk and limbs but not on the face and hands. |
| Synonym | adiposalgia adiposalgias adipose tissue rheumatism adipose tissue rheumatisms adiposis dolorosa [disease/finding] ander syndrome ander's syndrome anders syndrome anders syndromes decum vitaut syndrome decum-vitaut syndrome dercum dis dercum disease dercum s disease dercum's disease dercum, morbus dercums dis dercums disease dercums, morbus disease, dercum disease, dercum's dolorosa, lipomatosis dolorosas, lipomatosis lipomatosis dolorosa lipomatosis dolorosa (disorder) lipomatosis dolorosas morbus dercum morbus dercums neurolipomatosis rheumatism, adipose tissue rheumatisms, adipose tissue syndrome, ander's syndrome, anders syndrome, decum-vitaut syndromes, anders tissue rheumatism, adipose tissue rheumatisms, adipose |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0001529 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 10555 | AGPAT2 | 2.901 | DISEASES 208 | AKT2 | 2.188 | DISEASES 26580 | BSCL2 | 2.697 | DISEASES 388372 | CCL4L1 | 2.077 | DISEASES 9560 | CCL4L2 | 2.888 | DISEASES 63924 | CIDEC | 3.3 | DISEASES 2200 | FBN1 | 2.135 | DISEASES 4566 | MT-TK | 2.274 | DISEASES 594857 | NPS | 1.311 | DISEASES 5696 | PSMB8 | 2.818 | DISEASES 6863 | TAC1 | 1.22 | DISEASES 7453 | WARS | 2.652 | DISEASES 10269 | ZMPSTE24 | 3.193 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 684 |
|---|---|
| Disease | adiposis dolorosa |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:30) HP:0012378 | Fatigue HP:0000978 | Bruising susceptibility HP:0001482 | Subcutaneous nodule HP:0002019 | Constipation HP:0002354 | Memory impairment HP:0002960 | Autoimmunity HP:0002376 | Developmental regression HP:0100585 | Telangiectasia of the skin HP:0002225 | Sparse pubic hair HP:0000217 | Xerostomia HP:0002019 | Dyschezia HP:0002829 | Arthralgia HP:0003401 | Paresthesia HP:0002014 | Diarrhea HP:0002215 | Sparse axillary hair HP:0009830 | Peripheral neuropathy HP:0000739 | Anxiety HP:0007596 | Painful subcutaneous lipomas HP:0001250 | Seizures HP:0012532 | Chronic pain HP:0000709 | Psychosis HP:0002360 | Sleep disturbance HP:0001513 | Obesity HP:0000958 | Dry skin HP:0001369 | Arthritis HP:0000716 | Depression HP:0000821 | Hypothyroidism HP:0002315 | Headache HP:0001581 | Recurrent skin infections HP:0002829 | Arthralgias |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 684 |
|---|---|
| Disease | adiposis dolorosa |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms: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:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001581 | Recurrent skin infections | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0002215 | Sparse axillary hair | MP:0004396 | decreased cochlear inner hair cell number | decreased number (or less than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti |
| HP:0002225 | Sparse pubic hair | MP:0009575 | abnormal pubic symphysis morphology | any structural anomaly of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones, which are united by an interpubic disc of fibrocartilage as well as the superior and arcuate pubic ligaments |
| HP:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
| HP:0000978 | Bruising susceptibility | MP:0005596 | increased susceptibility to type I hypersensitivity reaction | greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a |
Mapped by homologous gene(Total Items:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001581 | Recurrent skin infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001250 | Seizures | 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:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000978 | Bruising susceptibility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| 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:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002225 | Sparse pubic hair | 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:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000709 | Psychosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002376 | Developmental regression | 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:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0002019 | Constipation | 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:0002215 | Sparse axillary hair | MP:0014051 | abnormal maxillary-premaxillary suture morphology | any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) |
| HP:0000217 | Xerostomia | 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:0012532 | Chronic pain | MP:0011975 | neuronal cytoplasmic inclusions | presence of aggregates of protein within the cytoplasm of neurons; hallmark of neurodegenerative disorders |
| Disease ID | 684 |
|---|---|
| Disease | adiposis dolorosa |
| Case | (Waiting for update.) |