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Metachondromatosis
1 OMIM reference -
1 associated gene
136 connected diseases
10 signs/symptoms
Disease Type of connection
Juvenile myelomonocytic leukemia
Noonan syndrome
LEOPARD syndrome
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Idiopathic hypereosinophilic syndrome
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
Hepatocellular carcinoma, childhood-onset
Gastrointestinal stromal tumor
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Distal 22q11.2 microdeletion syndrome
Autosomal dominant nonsyndromic intellectual deficit
Familial medullary thyroid carcinoma
Papillary or follicular thyroid carcinoma
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Budd-Chiari syndrome
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Giant cell glioblastoma
Gliosarcoma
Growth delay due to insulin-like growth factor I resistance
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
Congenital pulmonary alveolar proteinosis
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Familial papillary renal cell carcinoma
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Obesity due to leptin receptor gene deficiency
Laron syndrome
Short stature due to partial GHR deficiency
Autosomal agammaglobulinemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
SHORT syndrome
Autosomal dominant hyper-IgE syndrome
Hereditary gingival fibromatosis
Acute promyelocytic leukemia
Laron syndrome with immunodeficiency
Posterior polar cataract
Total congenital cataract
Amyotrophic lateral sclerosis
Primary familial polycythemia
Acute biphenotypic leukemia
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Complete androgen insensitivity syndrome
Craniopharyngioma
Desmoid tumor
Familial hypospadias
Kennedy disease
Leber congenital amaurosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Minimally differentiated acute myeloblastic leukemia
PLCG2-associated antibody deficiency and immune dysregulation
Partial androgen insensitivity syndrome
Pilomatrixoma
Senior-Loken syndrome
Acatalasemia
Lethal congenital contracture syndrome type 2
Intermittent hydrarthrosis
TRAPS syndrome
Mucocutaneous venous malformations
Atypical chronic myeloid leukemia
Chronic neutrophilic leukemia
Hereditary neutrophilia
Myeloid neoplasm associated with PDGFRA rearrangement
WHIM syndrome
Autosomal dominant distal renal tubular acidosis
Autosomal dominant macrothrombocytopenia
Burkitt lymphoma
Childhood-onset nemaline myopathy
Distal renal tubular acidosis with anemia
Early infantile epileptic encephalopathy
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia
Hereditary spherocytosis
Hyperparathyroidism - jaw tumor syndrome
Intermediate nemaline myopathy
Parathyroid carcinoma
Severe congenital nemaline myopathy
Southeast Asian ovalocytosis
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Typical nemaline myopathy
Severe combined immunodeficiency due to LCK deficiency
West syndrome
Chronic mucocutaneous candidiasis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Granulomatosis with polyangiitis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Stüve-Wiedemann syndrome
Susceptibility to viral and mycobacterial infections
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Bilateral renal agenesis
Bilateral renal dysplasia
Chronic myeloid leukemia
Congenital amegakaryocytic thrombocytopenia
Familial capillary hemangioma
Haddad syndrome
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hirschsprung disease
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Milroy disease
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Pilocytic astrocytoma
Unilateral renal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2C
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PTPN11 Q06124176876
Very frequent
- Autosomal dominant inheritance
- Bone pain
- Cranial nerves palsy
- Enchondroses
- Epiphyseal anomaly
- Exostoses
- Metaphyseal anomaly
- Osteonecrosis / bone infarction
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Periarticular tissue anomaly / extraarticular calcifications