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Peripheral primitive neuroectodermal tumor
2 associated genes
69 connected diseases
No signs/symptoms info
Disease Type of connection
Ewing sarcoma
Extraskeletal Ewing sarcoma
Isolated delta-storage pool disease
Paris-Trousseau thrombocytopenia
Translocation renal cell carcinoma
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Retinitis pigmentosa
Acute promyelocytic leukemia
Precursor T-cell acute lymphoblastic leukemia
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Chronic myelomonocytic leukemia
Congenital dyserythropoietic anemia type IV
Congenital mesoblastic nephroma
Fibrosarcoma
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Precursor B-cell acute lymphoblastic leukemia
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Complete androgen insensitivity syndrome
Familial hypospadias
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Kennedy disease
Partial androgen insensitivity syndrome
Primary peritoneal carcinoma
Heritable pulmonary arterial hypertension
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Aicardi-Goutières syndrome
Amyotrophic lateral sclerosis
Autosomal dominant spastic paraplegia type 13
Distal myopathy with vocal cord weakness
Dyschromatosis symmetrica hereditaria
Dyskeratosis congenita
Familial infantile bilateral striatal necrosis
Hoyeraal-Hreidarsson syndrome
Inflammatory myofibroblastic tumor
Pelizaeus-Merzbacher-like due to HSPD1 mutation
X-linked epilepsy - learning disabilities - behavior disorders
Alternating hemiplegia of childhood
Aneurysm - osteoarthritis syndrome
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Familial isolated dilated cardiomyopathy
Familial thoracic aortic aneurysm and aortic dissection
Isolated ATP synthase deficiency
Left ventricular noncompaction
Rapid-onset dystonia-parkinsonism
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Desmoplastic small round cell tumor
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Weaver syndrome
Synonym(s):
- PPNET
- Peripheral PNET

Classification (Orphanet):
- Rare bone 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
ERG P11308165080
FLI1 Q01543193067
No signs/symptoms info available.