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Pseudoxanthomatous diffuse cutaneous mastocytosis
1 associated gene
71 connected diseases
3 signs/symptoms
Disease Type of connection
Gastrointestinal stromal tumor
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Plaque-form urticaria pigmentosa
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Precursor B-cell acute lymphoblastic leukemia
Juvenile myelomonocytic leukemia
Autosomal agammaglobulinemia
Distal 22q11.2 microdeletion syndrome
Chronic myeloid leukemia
Precursor T-cell acute lymphoblastic leukemia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Congenital pulmonary alveolar proteinosis
Familial progressive hyper- and hypopigmentation
Familial progressive hyperpigmentation
LEOPARD syndrome
Noonan syndrome
SHORT syndrome
Testicular non seminomatous germ cell tumor
Testicular seminomatous germ cell tumor
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Severe combined immunodeficiency due to LCK deficiency
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Congenital communicating hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Common variable immunodeficiency
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Inflammatory myofibroblastic tumor
Translocation renal cell carcinoma
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Combined immunodeficiency due to ZAP70 deficiency
MODY syndrome
PLCG2-associated antibody deficiency and immune dysregulation
X-linked lymphoproliferative disease
Primary familial polycythemia
Acute promyelocytic leukemia
Laron syndrome with immunodeficiency
Omenn syndrome
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Idiopathic hypereosinophilic syndrome
Myeloid neoplasm associated with PDGFRA rearrangement
Legius syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
T-B+ severe combined immunodeficiency due to JAK3 deficiency
X-linked agammaglobulinemia
- Infiltrative small vesicular DCM
- Infiltrative small vesicular diffuse cutaneous mastocytosis
- Pseudoxanthomatous DCM

Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
KIT P10721164920
Very frequent
- Dermal / subcutaneous infiltration / induration
- Mastocytosis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment