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Familial rhabdoid tumor
2 OMIM references -
2 associated genes
173 connected diseases
No signs/symptoms info
Disease Type of connection
Coffin-Siris syndrome
Familial multiple meningioma
Atypical teratoid tumor
Neurofibromatosis type 3
Precursor B-cell acute lymphoblastic leukemia
Familial pancreatic carcinoma
Intellectual deficit - sparse hair - brachydactyly
Precursor T-cell acute lymphoblastic leukemia
Essential thrombocythemia
B-cell chronic lymphocytic leukemia
Giant cell glioblastoma
Gliosarcoma
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
6q25 microdeletion syndrome
Adrenocortical carcinoma
Burkitt lymphoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Synovial sarcoma
Estrogen resistance syndrome
Congenital dyserythropoietic anemia type IV
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
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
Williams syndrome
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
Squamous cell carcinoma of head and neck
Familial prostate cancer
Glucocorticoid resistance
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Peters anomaly
Translocation renal cell carcinoma
Autosomal recessive primary microcephaly
Premature chromosome condensation with microcephaly and intellectual deficit
Autosomal dominant secondary polycythemia
Chronic myeloid leukemia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Isolated adermatoglyphia
Isolated delta-storage pool disease
Multiple paragangliomas associated with polycythemia
Pseudohypoaldosteronism type 2E
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Myelofibrosis with myeloid metaplasia
Acute promyelocytic leukemia
Immunodeficiency by defective expression of HLA class 2
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Peutz-Jeghers syndrome
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Fanconi anemia
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Hypocalcemic vitamin D-resistant rickets
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Tyrosinemia type 2
Xeroderma pigmentosum complementation group C
Anophthalmia / microphthalmia - esophageal atresia
CHARGE syndrome
Colobomatous microphthalmia
Isolated anophthalmia - microphthalmia
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Omenn syndrome
Septo-optic dysplasia
Aniridia - cerebellar ataxia - intellectual deficit
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Autosomal dominant keratitis
Combined cervical dystonia
Common variable immunodeficiency
Constitutional mismatch repair deficiency syndrome
Familial melanoma
Familial partial lipodystrophy associated with PPARG mutations
Foveal hypoplasia - presenile cataract
Hereditary nonpolyposis colon cancer
Isolated aniridia
Isolated optic nerve hypoplasia
Mantle cell lymphoma
Melanoma and neural system tumor syndrome
Melanoma of soft part
Melanoma-pancreatic cancer syndrome
Morning glory syndrome
Non-polyposis Turcot syndrome
WAGR syndrome
Cowden syndrome
Proteus syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Autosomal dominant hyper-IgE syndrome
Inherited acute myeloid leukemia
Miller-Dieker syndrome
Young adult-onset Parkinsonism
Zonular cataract
Autosomal agammaglobulinemia
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
46,XY partial gonadal dysgenesis
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Adams-Oliver syndrome
Aneurysm - osteoarthritis syndrome
Atrial septal defect, ostium secundum type
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Dedifferentiated liposarcoma
Familial isolated dilated cardiomyopathy
Familial thoracic aortic aneurysm and aortic dissection
Follicular lymphoma
Fuchs endothelial corneal dystrophy
Holt-Oram syndrome
Intermediate nemaline myopathy
Intravascular large B-cell lymphoma
Juvenile myelomonocytic leukemia
Kabuki syndrome
Left ventricular noncompaction
MODY syndrome
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Noonan syndrome
Oculopharyngeal muscular dystrophy
Papillary or follicular thyroid carcinoma
Pilocytic astrocytoma
Posterior polymorphous corneal dystrophy
Primary mediastinal large B-cell lymphoma
Severe congenital nemaline myopathy
Typical nemaline myopathy
Watson syndrome
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
X-linked Emery-Dreifuss muscular dystrophy
Pancytopenia due to IKZF1 mutations
Acquired idiopathic sideroblastic anemia
Acute myeloid leukemia with multilineage dysplasia
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
Polycythemia vera
Refractory anemia
Refractory anemia with excess blasts
Adult-onset autosomal dominant leukodystrophy
Richieri Costa-Pereira syndrome
Synonym(s):
- RTPS
- Rhabdoid tumor predisposition syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
SMARCA4 P51532603254
SMARCB1 Q12824601607
No signs/symptoms info available.