ODCs

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Enchondromatosis

1 OMIM reference -
3 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Shwachman-Diamond syndrome

1 OMIM reference -
1 associated gene
28 signs/symptoms

Enchondromatosis

Shwachman-Diamond syndrome

IDH1	(UniProt - OMIM)		SBDS	(UniProt - OMIM)
IDH2	(UniProt - OMIM)
PTH1R	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IDH1	(0.63)	SBDS

Citations in the biomedical literature:

Enchondromatosis		Shwachman-Diamond syndrome
	Synonym(s): - Ollier disease		Synonym(s): - Congenital lipomatosis of pancreas

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: any age Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D004687		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Metaphyseal anomaly

Enchondromatosis		Shwachman-Diamond syndrome
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Bone tumefaction / swelling - Cavernous / tuberous hemangioma - Osteolysis / osteoclasia / bone destruction / erosions - Short limbs / micromelia / brachymelia - Visceral angiomatosis (excluding skin) Frequent - Bone pain - Restricted joint mobility / joint stiffness / ankylosis - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Anaemia - Bone / osseous neoplasm / tumor / carcinoma / cancer - Chronic skin infection / ulcerations / ulcers / cancrum - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Lymphangioma / lymphatic malformations - Neoplasms / tumors - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Platyspondyly - Precocious puberty - Sarcoma - Venous thrombosis / phlebitis / thrombophlebitis		Very frequent - Autosomal recessive inheritance - Pancreatic failure / exocrine pancreas disease - Polynuclear cells / neutrophils anomalies / neutropenia - Structural anomalies of the pancreas Frequent - Delayed bone age - Eczema - Failure to thrive / difficulties for feeding in infancy / growth delay - Ichthyosis / ichthyosiform dermatitis - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocytic anemia - Malabsorption / chronic diarrhea / steatorrhea - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Short stature / dwarfism / nanism - Thrombocytopenia / thrombopenia Occasional - Abnormal gait - Acute leukemia - Bone marrow failure / pancytopenia - Complete / partial microdontia - Enanthema / aphtosa / aphta / leukoplakia - Hepatomegaly / liver enlargement (excluding storage disease) - Insulin-dependent / type 1 diabetes - Multiple caries - Myeloproliferative syndrome / chronic leukemia - Pectus carinatum - Scoliosis - Short rib cage / thorax