Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormal myeloid leukocyte morphology (HP:0010974)help
Parent Node:
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Abnormality of connective tissue (HP:0003549)help
..Starting node
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Abnormal mast cell morphology (HP:0100494)help
Term ID: 100494
Name: Abnormal mast cell morphology
Synonym: Abnormality of mast cells; Abnormality of mastocytes
Definition: Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.
Comments:
Reference: HP:0100494
Genes and Diseases:
 
       Child Nodes:
........expandIncreased proportion of CD25+ mast cells (HP:0031408) help
........expandMastocytosis (HP:0100495) help
................... HP:0031824 Hepatic mastocytosis
................... HP:0200151 Cutaneous mastocytosis

 Sister Nodes: 
..expandAbnormal adipose tissue morphology (HP:0009124) help
..expandAbnormal odontoid tissue morphology (HP:3000050) help
..expandAbnormal Sharpey fiber morphology (HP:0100685) help
..expandAbnormality of the fascia (HP:0100536) help
..expandCellulitis (HP:0100658) help
..expandCongenital mesoblastic nephroma (HP:0100881) help
..expandConnective tissue nevi (HP:0100898) help
..expandFlexion contracture (HP:0001371) help
..expandHernia (HP:0100790) help
..expandIncreased connective tissue (HP:0009025) help
..expandMusculotendinous retraction (HP:0031462) help
..expandScarring (HP:0100699) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100494HP:0100494Abnormal mast cell morphology0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040281 - Very frequent145
HP:0100494HP:0100494Abnormal mast cell morphology0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040281 - Very frequent145
HP:0100494HP:0100494Abnormal mast cell morphology0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040281 - Very frequent317
HP:0100494HP:0100494Abnormal mast cell morphology0CYP26C1 CL E G H34066520577ORPHA:398189Focal facial dermal dysplasia type IVHP:0040282 - Frequent2
HP:0100494HP:0100494Abnormal mast cell morphology0KIT CL E G H38156342ORPHA:280785Bullous diffuse cutaneous mastocytosis327
HP:0100494HP:0100494Abnormal mast cell morphology0KIT CL E G H38156342OMIM:154800Mastocytosis, cutaneous327
HP:0100494HP:0100494Abnormal mast cell morphology0KIT CL E G H38156342ORPHA:280794Pseudoxanthomatous diffuse cutaneous mastocytosis327
HP:0100494HP:0100494Abnormal mast cell morphology0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040281 - Very frequent327
HP:0100494HP:0100494Abnormal mast cell morphology0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0100494HP:0100494Abnormal mast cell morphology0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040281 - Very frequent181
HP:0100494HP:0100494Abnormal mast cell morphology0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040281 - Very frequent1
HP:0100494HP:0100494Abnormal mast cell morphology0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040281 - Very frequent1
HP:0100494HP:0100494Abnormal mast cell morphology0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040281 - Very frequent3
HP:0100494HP:0100494Abnormal mast cell morphology0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040281 - Very frequent3
HP:0100494HP:0031408Increased proportion of CD25+ mast cells1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent145
HP:0100494HP:0031408Increased proportion of CD25+ mast cells1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent317
HP:0100494HP:0100495Mastocytosis1KIT CL E G H38156342ORPHA:280785Bullous diffuse cutaneous mastocytosis327
HP:0100494HP:0100495Mastocytosis1KIT CL E G H38156342OMIM:154800Mastocytosis, cutaneous327
HP:0100494HP:0100495Mastocytosis1KIT CL E G H38156342ORPHA:280794Pseudoxanthomatous diffuse cutaneous mastocytosis327
HP:0100494HP:0031408Increased proportion of CD25+ mast cells1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040281 - Very frequent239
HP:0100494HP:0031408Increased proportion of CD25+ mast cells1RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent181
HP:0100494HP:0031408Increased proportion of CD25+ mast cells1SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent1
HP:0100494HP:0031408Increased proportion of CD25+ mast cells1TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent3
HP:0100494HP:0031824Hepatic mastocytosis2 CL E G H
HP:0100494HP:0200151Cutaneous mastocytosis2KIT CL E G H38156342ORPHA:280785Bullous diffuse cutaneous mastocytosisHP:0040281 - Very frequent327
HP:0100494HP:0200151Cutaneous mastocytosis2KIT CL E G H38156342OMIM:154800Mastocytosis, cutaneous.327
HP:0100494HP:0200151Cutaneous mastocytosis2KIT CL E G H38156342ORPHA:280794Pseudoxanthomatous diffuse cutaneous mastocytosisHP:0040281 - Very frequent327


Genes (8) :ASXL1 CBL CYP26C1 KIT LYST RUNX1 SRSF2 TET2

Diseases (7) :ORPHA:98850 ORPHA:98849 ORPHA:398189 ORPHA:280785 OMIM:154800 ORPHA:280794 ORPHA:167
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.