Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mast cell activation syndrome

Mast cell activation syndrome is a diasease that has many similarities with an allegic disorder, but it is not caused by an allergen but an immunological dysregulation. Somatic and germline mutations can be found in various genes in some cases.

Systematic

Food intolerance
Adult type lactose intolerance
Eosinophil peroxidase deficiency
Fructose intolerance
Fructose malabsorption
Fructose-1,6-bisphosphatase deficiency
Fructosuria
Glucose-Galactose Malabsorption
Histamine Intolerance
Lactase deficiency
Lysinuric protein intolerance
Mast cell activation syndrome
KIT
Sitosterolemia
Trehalase deficiency

References:

1.

None (1978) Urticaria pigmentosa in identical twins.

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2.

Anstey A et al. (1991) Familial mastocytosis: a clinical, immunophenotypic, light and electron microscopic study.

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3.

Boyano T et al. (1990) Urticaria pigmentosa in monozygotic twins.

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4.

Oku T et al. (1990) The familial occurrence of bullous mastocytosis (diffuse cutaneous mastocytosis).

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5.

Clark DP et al. (1990) Familial urticaria pigmentosa.

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6.

Fowler JF et al. (1986) Familial urticaria pigmentosa.

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7.

Burgoon CF et al. (1968) Mast cell disease. A cutaneous variant with multisystem involvement.

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8.

Selmanowitz VJ et al. (1970) Uniovular twins discordant for cutaneous mastocytosis.

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9.

Bazex A et al. (1971) [Familial mastocytosis. Presentation of 2 cases. General review. Nosologic importance].

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10.

Selmanowitz VJ et al. (1970) Mastocytosis. A clinical genetic evaluation.

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11.

None (1968) Genetic aspects of urticaria pigmentosa.

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12.

James MP et al. (1981) Familial urticaria pigmentosa with giant mast cell granules. A clinical, light, and electron microscopic study.

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13.

Noto G et al. (1995) Concordant urticaria pigmentosa in a couple of identical twins. A five-year follow-up.

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14.

Rosbotham JL et al. (1999) Lack of c-kit mutation in familial urticaria pigmentosa.

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15.

Tefferi A et al. (2009) Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates.

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16.

OMIM.ORG article

Omim 154800 [^]
17.

Orphanet article

Orphanet ID 98292 [^]
18.

Wikipedia article

Wikipedia EN (Mast_cell_activation_syndrome) [^]
Update: April 29, 2019