eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cutaneous mastocytosis | ||||
| Disease ID | 608 |
|---|---|
| Disease | cutaneous mastocytosis |
| Definition | Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN. |
| Synonym | cutaneous mastocytoses cutaneous mastocytosis (disorder) cutaneous mastocytosis (morphologic abnormality) mastocytoses, cutaneous mastocytoses, skin mastocytosis, cutaneous mastocytosis, cutaneous [disease/finding] mastocytosis, skin skin mastocytoses skin mastocytosis |
| Orphanet | |
| DOID | |
| UMLS | C1136033 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0334082 | epidermal nevus | 1 C0598894 | monocytic leukemia | 1 C0002171 | alopecia areata | 1 C0010495 | cutis laxa | 1 C0002170 | alopecia | 1 C0027962 | melanocytic nevi | 1 C0024899 | mast cell disease | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:28) 3267 | AGFG1 | 1.61 | DISEASES 488 | ATP2A2 | 1.192 | DISEASES 538 | ATP7A | 3.43 | DISEASES 796 | CALCA | 1.12 | DISEASES 914 | CD2 | 3.938 | DISEASES 959 | CD40LG | 1.051 | DISEASES 1378 | CR1 | 1.319 | DISEASES 1394 | CRHR1 | 1.128 | DISEASES 1506 | CTRL | 2.023 | DISEASES 5169 | ENPP3 | 1.282 | DISEASES 2205 | FCER1A | 1.858 | DISEASES 81608 | FIP1L1 | 3.128 | DISEASES 26762 | HAVCR1 | 2.034 | DISEASES 3347 | HTN3 | 1.712 | DISEASES 3440 | IFNA2 | 2.162 | DISEASES 54900 | LAX1 | 1.262 | DISEASES 9788 | MTSS1 | 2.841 | DISEASES 114548 | NLRP3 | 1.368 | DISEASES 5236 | PGM1 | 1.494 | DISEASES 5336 | PLCG2 | 1.566 | DISEASES 5498 | PPOX | 1.699 | DISEASES 5269 | SERPINB6 | 1.826 | DISEASES 8831 | SYNGAP1 | 2.083 | DISEASES 6863 | TAC1 | 1.489 | DISEASES 54790 | TET2 | 1.724 | DISEASES 24144 | TFIP11 | 2.461 | DISEASES 7096 | TLR1 | 1.187 | DISEASES 5212 | VIT | 3.477 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 608 |
|---|---|
| Disease | cutaneous mastocytosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0002239 | Gastrointestinal hemorrhage HP:0012733 | Macule HP:0002094 | Dyspnea HP:0012378 | Fatigue HP:0200151 | Cutaneous mastocytosis HP:0002027 | Abdominal pain HP:0100585 | Telangiectasia of the skin HP:0001000 | Abnormality of skin pigmentation HP:0002099 | Asthma HP:0002014 | Diarrhea HP:0100326 | Immunologic hypersensitivity HP:0002615 | Hypotension HP:0002017 | Nausea and vomiting HP:0000739 | Anxiety HP:0008066 | Abnormal blistering of the skin HP:0005547 | Myeloproliferative disorder HP:0011001 | Increased bone mineral density HP:0011675 | Arrhythmia HP:0002757 | Recurrent fractures HP:0001019 | Erythroderma HP:0000939 | Osteoporosis HP:0100242 | Sarcoma HP:0002240 | Hepatomegaly HP:0012735 | Cough HP:0003072 | Hypercalcemia HP:0001744 | Splenomegaly HP:0001596 | Alopecia HP:0001695 | Cardiac arrest HP:0000716 | Depression HP:0000989 | Pruritus HP:0007565 | Multiple cafe-au-lait spots HP:0200034 | Papule HP:0002315 | Headache |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0001596 | Hair loss | 1 HP:0012325 | Chronic myelomonocytic leukemia | 1 HP:0002229 | Alopecia areata | 1 HP:0000973 | Dermatomegaly | 1 HP:0010816 | Epidermal nevus | 1 HP:0000995 | Beauty mark | 1 HP:0000989 | pruritis | 1 HP:0003764 | Naevus | 1 |
| Disease ID | 608 |
|---|---|
| Disease | cutaneous mastocytosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| 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:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| 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:0100326 | Immunologic hypersensitivity | MP:0005617 | increased susceptibility to type IV hypersensitivity reaction | greater likelihood of developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact |
Mapped by homologous gene(Total Items:32) | ||||
|---|---|---|---|---|
| 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:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002315 | Headache | 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:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002094 | Dyspnea | 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:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001019 | Erythroderma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0200151 | Cutaneous mastocytosis | MP:0011967 | increased or absent threshold for auditory brainstem response | increase 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, or complete lack of a recordable response at any frequency o |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0008066 | Abnormal blistering 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:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001695 | Cardiac arrest | MP:0013578 | abnormal stomach glandular region morphology | any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the g |
| 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:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002099 | Asthma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100326 | Immunologic hypersensitivity | 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:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0002615 | Hypotension | 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:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000989 | Pruritus | 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:0005547 | Myeloproliferative disorder | 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:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 608 |
|---|---|
| Disease | cutaneous mastocytosis |
| Case | (Waiting for update.) |