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Myeloid neoplasm associated with PDGFRB rearrangement
1 associated gene
78 connected diseases
No signs/symptoms info
Disease Type of connection
Idiopathic hypereosinophilic syndrome
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Infantile myofibromatosis
Unclassified chronic myeloproliferative disease
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
LEOPARD syndrome
Noonan syndrome
Juvenile myelomonocytic leukemia
Precursor B-cell acute lymphoblastic leukemia
Cowden syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Autosomal agammaglobulinemia
Gastrointestinal stromal tumor
Myeloid neoplasm associated with PDGFRA rearrangement
SHORT syndrome
Capillary malformation - arteriovenous malformation
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Parkes Weber syndrome
Pilocytic astrocytoma
Bannayan-Riley-Ruvalcaba syndrome
Hereditary breast and ovarian cancer syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Giant cell glioblastoma
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Autosomal dominant limb-girdle muscular dystrophy type 1C
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Rippling muscle disease
Romano-Ward syndrome
Autosomal dominant macrothrombocytopenia
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Giant cell arteritis
Granulomatosis with polyangiitis
Pediatric systemic lupus erythematosus
T-B+ severe combined immunodeficiency due to CD45 deficiency
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Congenital mesoblastic nephroma
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Autosomal dominant nonsyndromic intellectual deficit
Acute promyelocytic leukemia
Autosomal dominant hyper-IgE syndrome
CLOVE syndrome
Hereditary nonpolyposis colon cancer
Laron syndrome with immunodeficiency
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Distal 22q11.2 microdeletion syndrome
(no synonyms)

Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic 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
PDGFRB P09619173410
No signs/symptoms info available.