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Plaque-form urticaria pigmentosa
1 associated gene
71 connected diseases
No signs/symptoms info
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
Piebaldism
Pseudoxanthomatous diffuse cutaneous mastocytosis
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
Metachondromatosis
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
Cherubism
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
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
KIT P10721164920
No signs/symptoms info available.