- Abnormal bone marrow cell morphology (HP:0005561): An anomaly of the form or number of cells in the bone marrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98848)
- Abnormal skin morphology (HP:0011121): Any morphological abnormality of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98848)
- Increased CD25+ mast cell proportion (HP:0031408): An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98848)
- Abnormal mast cell morphology (HP:0100494): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98848)
- Mastocytosis (HP:0100495): The presence of an increased number of mast cells and CD34+ mast cell precursors in the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98848)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98848)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98848)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98848)
- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98848)
- Generalized abnormality of skin (HP:0011354): An abnormality of the skin that is not localized to any one particular region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98848)
- Allergy (HP:0012393): An allergy is an immune response or reaction to substances that are usually not harmful. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98848)
- Darier's sign (HP:0025081): A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98848)
- Flushing (HP:0031284): Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98848)
- Elevated total serum tryptase (HP:0031901): An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98848)
- Abdominal cramps (HP:0032155): A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98848)
- Maculopapular exanthema (HP:0040186): A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98848)
- Anaphylactic shock (HP:0100845): An acute hypersensitivity reaction due to exposure to a previously encountered antigen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98848)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98848)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98848)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98848)
These phenotypes are associated with the disease Indolent systemic mastocytosis (ORPHA:98848).
The following phenotypes are NOT associated with this disease:
- Hematological neoplasm (HP:0004377): Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). Evidence: TAS. (ORPHA:98848)