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Atypical teratoid tumor
1 OMIM reference -
1 associated gene
88 connected diseases
16 signs/symptoms
Disease Type of connection
Coffin-Siris syndrome
Familial rhabdoid tumor
Familial multiple meningioma
Neurofibromatosis type 3
Intellectual deficit - sparse hair - brachydactyly
Precursor T-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Precursor B-cell acute lymphoblastic leukemia
Familial pancreatic carcinoma
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
Burkitt lymphoma
Adrenocortical carcinoma
Giant cell glioblastoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Synovial sarcoma
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
6q25 microdeletion syndrome
Williams syndrome
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Thrombocytopenia with congenital dyserythropoietic anemia
Tyrosinemia type 2
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Xeroderma pigmentosum complementation group C
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Estrogen resistance syndrome
Mantle cell lymphoma
Squamous cell carcinoma of head and neck
Cowden syndrome
Proteus syndrome
Autosomal recessive primary microcephaly
Premature chromosome condensation with microcephaly and intellectual deficit
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Autosomal dominant secondary polycythemia
Childhood-onset nemaline myopathy
Chronic myeloid leukemia
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Intermediate nemaline myopathy
Isolated adermatoglyphia
Isolated delta-storage pool disease
Multiple paragangliomas associated with polycythemia
Myelofibrosis with myeloid metaplasia
Pseudohypoaldosteronism type 2E
Severe congenital nemaline myopathy
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Typical nemaline myopathy
X-linked Emery-Dreifuss muscular dystrophy
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
Translocation renal cell carcinoma
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
Richieri Costa-Pereira syndrome
(no synonyms)

Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
SMARCB1 Q12824601607
Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Nausea / vomiting / regurgitation / merycism / hyperemesis

- Ataxia / incoordination / trouble of the equilibrium
- Early death / lethality
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Muscle weakness / flaccidity
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sleep and vigilance disorders

- Acute palsy
- Cranial nerves palsy
- Intracranial / cerebral calcifications