eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| maculopapular cutaneous mastocytosis | ||||
| Disease ID | 1126 |
|---|---|
| Disease | maculopapular cutaneous mastocytosis |
| Definition | The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules. |
| Synonym | cutaneous mastocytoses, maculopapular cutaneous mastocytosis, maculopapular localised cutaneous mastocytosis localized cutaneous mastocytosis localized cutaneous mastocytosis, nos maculopapular cutaneous mastocytoses pigmentosa urticaria up/mpcm urticaria pigmentosa urticaria pigmentosa (disorder) urticaria pigmentosa (morphologic abnormality) urticaria pigmentosa [ambiguous] urticaria pigmentosa [disease/finding] urticaria pigmentosa, nos urticaria pigmentosa/maculopapular cutaneous mastocytosis |
| Orphanet | |
| DOID | |
| UMLS | C0042111 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) C0221013 | systemic mastocytosis | 1 C0027962 | melanocytic nevi | 1 C1136033 | cutaneous mastocytosis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:24) 488 | ATP2A2 | 1.476 | DISEASES 538 | ATP7A | 3.261 | DISEASES 796 | CALCA | 1.405 | DISEASES 914 | CD2 | 2.196 | DISEASES 959 | CD40LG | 1.009 | DISEASES 1394 | CRHR1 | 1.413 | DISEASES 1506 | CTRL | 1.35 | DISEASES 22943 | DKK1 | 1.112 | DISEASES 2205 | FCER1A | 2.143 | DISEASES 81608 | FIP1L1 | 3.016 | DISEASES 26762 | HAVCR1 | 2.319 | DISEASES 3347 | HTN3 | 1.997 | DISEASES 3440 | IFNA2 | 2.447 | DISEASES 54900 | LAX1 | 1.546 | DISEASES 9788 | MTSS1 | 2.123 | DISEASES 114548 | NLRP3 | 1.653 | DISEASES 5236 | PGM1 | 1.779 | DISEASES 5336 | PLCG2 | 1.851 | DISEASES 5498 | PPOX | 1.984 | DISEASES 6280 | S100A9 | 1.281 | DISEASES 6863 | TAC1 | 1.773 | DISEASES 54790 | TET2 | 1.478 | DISEASES 24144 | TFIP11 | 2.746 | DISEASES 5212 | VIT | 3.171 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1126 |
|---|---|
| Disease | maculopapular cutaneous mastocytosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0012733 | Macule HP:0002094 | Dyspnea HP:0200035 | Skin plaque HP:0200151 | Cutaneous mastocytosis HP:0002014 | Diarrhea HP:0001695 | Cardiac arrest HP:0100585 | Telangiectasia of the skin HP:0001034 | Hypermelanotic macule HP:0002017 | Nausea and vomiting HP:0000989 | Pruritus HP:0012384 | Rhinitis HP:0200036 | Skin nodule HP:0200034 | Papule HP:0002315 | Headache |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1126 |
|---|---|
| Disease | maculopapular cutaneous mastocytosis |
| Manually Symptom | (Waiting for update.) |
| 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:27) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913507 | 20471335 | 3815 | KIT | umls:C0042111 | BeFree | High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V. | 0.018739421 | 2010 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25912132 | 25823 | TPSG1 | umls:C0042111 | BeFree | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels). | 0.000814326 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23807778 | 3815 | KIT | umls:C0042111 | BeFree | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). | 0.018739421 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 12393643 | 3815 | KIT | umls:C0042111 | BeFree | Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-kit receptor tyrosine kinase (KIT), and Asp816Val mutation, corresponding to murine Asp814Val mutation, is found in patients with mastocytosis and acute myelocytic leukemia. | 0.018739421 | 2003 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25912132 | 3815 | KIT | umls:C0042111 | BeFree | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels). | 0.018739421 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 17065430 | 3815 | KIT | umls:C0042111 | BeFree | Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia. | 0.018739421 | 2006 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25912132 | 3669 | ISG20 | umls:C0042111 | BeFree | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels). | 0.001357209 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 16352739 | 3815 | KIT | umls:C0042111 | BeFree | Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation. | 0.018739421 | 2005 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25912132 | 23430 | TPSD1 | umls:C0042111 | BeFree | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels). | 0.000814326 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24677542 | 3815 | KIT | umls:C0042111 | BeFree | ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mastocytosis and should facilitate the development of novel drugs for treating SM patients. | 0.018739421 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 11493470 | 3815 | KIT | umls:C0042111 | BeFree | These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD117(+) cells, offering one explanation for increased mast cells observed in tissues of patients with mastocytosis. | 0.018739421 | 2001 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25912132 | 3559 | IL2RA | umls:C0042111 | BeFree | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels). | 0.00408156 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22204765 | 3815 | KIT | umls:C0042111 | BeFree | The reason for this decreased sensitivity to TKIs is related to the resistance of the D816V variant of c-KIT, found in the majority of patients with mastocytosis. | 0.018739421 | 2011 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24128084 | 3815 | KIT | umls:C0042111 | BeFree | Although the KIT D816V mutation is typically found in adult-onset mastocytosis, it is less commonly seen in childhood-onset mastocytosis, and the frequency of KIT mutations in paediatric solitary mastocytoma is poorly documented. | 0.018739421 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23777495 | 3815 | KIT | umls:C0042111 | BeFree | Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. | 0.018739421 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 16183119 | 3815 | KIT | umls:C0042111 | BeFree | For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific therapeutic option, yet it has no effect on D816V mutation commonly seen in sporadic mastocytosis. | 0.018739421 | 2006 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23807778 | 3559 | IL2RA | umls:C0042111 | BeFree | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). | 0.00408156 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 17040960 | 3815 | KIT | umls:C0042111 | BeFree | Sensitive detection of KIT D816V in patients with mastocytosis. | 0.018739421 | 2006 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24750133 | 3815 | KIT | umls:C0042111 | BeFree | The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease. | 0.018739421 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23807778 | 3669 | ISG20 | umls:C0042111 | BeFree | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). | 0.001357209 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 21083038 | 3815 | KIT | umls:C0042111 | BeFree | Whereas in pediatric mastocytosis, which is usually confined to the skin, a number of different KIT mutations and other defects may be detected, the KIT mutation D816V is detectable in most (adult) patients with SM. | 0.018739421 | 2010 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 19865100 | 3815 | KIT | umls:C0042111 | BeFree | Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. | 0.018739421 | 2010 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24443360 | 3815 | KIT | umls:C0042111 | BeFree | Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis. | 0.018739421 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913517 | 23777495 | 3815 | KIT | umls:C0042111 | BeFree | Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. | 0.018739421 | 2013 | KIT | 4 | 54727444 | T | A,C,G |
| rs121913521 | 23777495 | 3815 | KIT | umls:C0042111 | BeFree | Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. | 0.018739421 | 2013 | KIT | 4 | 54727447 | T | A,G |
| rs3822214 | 18795925 | 3815 | KIT | umls:C0042111 | BeFree | Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT. | 0.018739421 | 2008 | KIT | 4 | 54727298 | A | C,G |
| rs3822214 | 25015329 | 3815 | KIT | umls:C0042111 | BeFree | The M541L KIT substitution (KIT(M541L)) has been described to be associated with pediatric mastocytosis, to enhance growth rate of the affected cells and to confer higher sensitivity to imatinib therapy. | 0.018739421 | 2015 | KIT | 4 | 54727298 | A | 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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 |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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: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:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001034 | Hypermelanotic macule | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0200036 | Skin nodule | MP:0013601 | increased testis apoptosis | increase in the number of cells of the male reproductive glands undergoing programmed cell death |
| HP:0012384 | Rhinitis | 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 |
| Disease ID | 1126 |
|---|---|
| Disease | maculopapular cutaneous mastocytosis |
| Case | (Waiting for update.) |