PedAM
Pediatric Disease Annotations & Medicines
| cutaneous mastocytosis | ||||
| Disease ID | 240 |
|---|---|
| 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) C0598894 | monocytic leukemia | 1 C0334082 | epidermal nevus | 1 C0002170 | alopecia | 1 C0010495 | cutis laxa | 1 C0024899 | mast cell disease | 1 C0027962 | melanocytic nevi | 1 C0002171 | alopecia areata | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:55) 266 | AMELY | DISEASES 1511 | CTSG | DISEASES 1178 | CLC | DISEASES 4254 | KITLG | DISEASES 80306 | MED28 | DISEASES 2703 | GJA8 | DISEASES 968 | CD68 | DISEASES 1215 | CMA1 | DISEASES 5156 | PDGFRA | DISEASES 967 | CD63 | DISEASES 4481 | MSR1 | DISEASES 9618 | TRAF4 | DISEASES 8190 | MIA | DISEASES 943 | TNFRSF8 | DISEASES 2208 | FCER2 | DISEASES 29899 | GPSM2 | DISEASES 5045 | FURIN | DISEASES 9180 | OSMR | DISEASES 5921 | RASA1 | DISEASES 6570 | SLC18A1 | DISEASES 6750 | SST | DISEASES 3815 | KIT | DISEASES 9437 | NCR1 | DISEASES 6571 | SLC18A2 | DISEASES 5046 | PCSK6 | DISEASES 947 | CD34 | DISEASES 91662 | NLRP12 | DISEASES 6863 | TAC1 | DISEASES 796 | CALCA | DISEASES 81608 | FIP1L1 | DISEASES 114548 | NLRP3 | DISEASES 5269 | SERPINB6 | DISEASES 5498 | PPOX | DISEASES 26762 | HAVCR1 | DISEASES 538 | ATP7A | DISEASES 5169 | ENPP3 | DISEASES 5336 | PLCG2 | DISEASES 7096 | TLR1 | DISEASES 1378 | CR1 | DISEASES 2205 | FCER1A | DISEASES 914 | CD2 | DISEASES 959 | CD40LG | DISEASES 5236 | PGM1 | DISEASES 5212 | VIT | DISEASES 54790 | TET2 | DISEASES 3440 | IFNA2 | DISEASES 1394 | CRHR1 | DISEASES 24144 | TFIP11 | DISEASES 3267 | AGFG1 | DISEASES 8831 | SYNGAP1 | DISEASES 54900 | LAX1 | DISEASES 9788 | MTSS1 | DISEASES 3347 | HTN3 | DISEASES 488 | ATP2A2 | DISEASES 1506 | CTRL | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 240 |
|---|---|
| Disease | cutaneous mastocytosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0011675 | Arrhythmia HP:0012735 | Cough HP:0002239 | Gastrointestinal hemorrhage HP:0001000 | Abnormality of skin pigmentation HP:0012733 | Macule HP:0000739 | Anxiety HP:0001695 | Cardiac arrest HP:0100585 | Telangiectasia of the skin HP:0002014 | Diarrhea HP:0001019 | Erythroderma HP:0001596 | Alopecia HP:0100242 | Sarcoma HP:0002315 | Headache HP:0001744 | Splenomegaly HP:0005547 | Myeloproliferative disorder HP:0008066 | Abnormal blistering of the skin HP:0200151 | Cutaneous mastocytosis HP:0002094 | Dyspnea HP:0002240 | Hepatomegaly HP:0000939 | Osteoporosis HP:0002615 | Hypotension HP:0000989 | Pruritus HP:0000716 | Depression HP:0007565 | Multiple cafe-au-lait spots HP:0012378 | Fatigue HP:0003072 | Hypercalcemia HP:0002017 | Nausea and vomiting HP:0002099 | Asthma HP:0002757 | Recurrent fractures HP:0100326 | Immunologic hypersensitivity HP:0011001 | Increased bone mineral density HP:0200034 | Papule HP:0002027 | Abdominal pain |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0010816 | Epidermal nevus | 1 HP:0012325 | Chronic myelomonocytic leukemia | 1 HP:0001596 | Hair loss | 1 HP:0000989 | pruritis | 1 HP:0000973 | Dermatomegaly | 1 HP:0003764 | Naevus | 1 HP:0000995 | Beauty mark | 1 HP:0002229 | Alopecia areata | 1 |
| Disease ID | 240 |
|---|---|
| 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.) |
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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures;HP:0001645 | Sudden cardiac death |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002615 | Hypotension | MP:0008294 | abnormal adrenal gland zona fasciculata morphology;HP:0002757 | Recurrent fractures |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C1136033 | pimecrolimus | C117268 | - | mastocytosis, cutaneous | MESH:D034701 | therapeutic | 20559008 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |