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Desmoplastic small round cell tumor
2 associated genes
114 connected diseases
19 signs/symptoms
Disease Type of connection
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Extraskeletal myxoid chondrosarcoma
Ewing sarcoma
Extraskeletal Ewing sarcoma
46,XY partial gonadal dysgenesis
Denys-Drash syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Frasier syndrome
Meacham syndrome
Melanoma of soft part
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
WAGR syndrome
Familial pancreatic carcinoma
Amyotrophic lateral sclerosis
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Giant cell glioblastoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
17q11 microdeletion syndrome
Weaver syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Hereditary breast and ovarian cancer syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Frontotemporal dementia with motor neuron disease
Juvenile amyotrophic lateral sclerosis
Myxoid / round cell liposarcoma
Catecholaminergic polymorphic ventricular tachycardia
Charcot-Marie-Tooth disease type 4D
Cholesterol-ester transfer protein deficiency
Disseminated superficial actinic porokeratosis
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Hyperimmunoglobulinemia D with periodic fever
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Mevalonic aciduria
Myhre syndrome
Pulmonary capillary hemangiomatosis
Pulmonary venoocclusive disease
Pyruvate dehydrogenase E3-binding protein deficiency
Renal tubular dysgenesis of genetic origin
Syndromic multisystem autoimmune disease due to Itch deficiency
Estrogen resistance syndrome
X-linked dystonia-parkinsonism
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Autosomal dominant secondary polycythemia
Brugada syndrome
COFS syndrome
Cabezas syndrome
Cerebellar ataxia-deafness-narcolepsy syndrome
Common variable immunodeficiency
Cornelia de Lange syndrome
Dentatorubral pallidoluysian atrophy
Familial isolated hyperparathyroidism
Familial melanoma
Familial parathyroid adenoma
Fibronectin glomerulopathy
Glycogen storage disease due to liver phosphorylase kinase deficiency
Herpetic encephalitis
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inherited acute myeloid leukemia
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Multiple endocrine neoplasia type 1
Multiple paragangliomas associated with polycythemia
Nager syndrome
Papillary or follicular thyroid carcinoma
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pseudohypoaldosteronism type 2E
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Spinocerebellar ataxia type 19 / 22
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Translocation renal cell carcinoma
Wolf-Hirschhorn syndrome
Xeroderma pigmentosum complementation group G
Zollinger-Ellison syndrome
Familial isolated dilated cardiomyopathy
Renal coloboma syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation
Isolated delta-storage pool disease
Paris-Trousseau thrombocytopenia
Peripheral primitive neuroectodermal tumor
Autosomal recessive malignant osteopetrosis
Autosomal recessive optic atrophy, OPA7 type
Kostmann syndrome

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare oncologic disease

Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
1 MeSH reference: D058405

Gene symbol UniProt reference OMIM reference
EWSR1 Q01844133450
WT1 P19544607102
Very frequent
- Acute abdominal pain / colic
- Digestive neoplasm / tumor / carcinoma / cancer
- Lymphadenopathy / polyadenopathies
- Peritoneal diseases
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

- Hepatomegaly / liver enlargement (excluding storage disease)
- Intestinal obstruction / ileus
- Mediastinal / hilar adenopathies
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Weight loss / loss of appetite / break in weight curve / general health alteration

- Anaemia
- Ascitis
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Nose / nasal sinus neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Testis anomalies
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy