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Cherubism
1 OMIM reference -
1 associated gene
50 connected diseases
13 signs/symptoms
Disease Type of connection
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Combined immunodeficiency due to ZAP70 deficiency
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Familial papillary renal cell carcinoma
Gastrointestinal stromal tumor
Hepatocellular carcinoma, childhood-onset
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Acute biphenotypic leukemia
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Congenital atransferrinemia
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Minimally differentiated acute myeloblastic leukemia
Rabson-Mendenhall syndrome
Severe combined immunodeficiency due to LCK deficiency
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation
Giant cell glioblastoma
Gliosarcoma
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Septo-optic dysplasia
Chronic myeloid leukemia
Synonym(s):
- CRBM

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease

Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D002636

Gene symbol UniProt reference OMIM reference
SH3BP2 P78314602104
Very frequent
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Enlargment of jaw / large jaw
- High cheek bones

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anodontia / oligodontia / hypodontia
- Tooth shape anomaly

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Apnea / sleep apnea
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Proptosis / exophthalmos
- Visual loss / blindness / amblyopia