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Enchondromatosis

1 OMIM reference -
3 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Reticular dysgenesis

1 OMIM reference -
1 associated gene
23 signs/symptoms

Enchondromatosis

Reticular dysgenesis

IDH1	(UniProt - OMIM)		AK2	(UniProt - OMIM)
IDH2	(UniProt - OMIM)
PTH1R	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IDH1	(0.49)	AK2

Citations in the biomedical literature:

Enchondromatosis		Reticular dysgenesis
	Synonym(s): - Ollier disease		Synonym(s): - AK2 deficiency - Congenital aleukocytosis - De Vaal disease - Generalized hematopoietic hypoplasia - SCID with leukopenia - Severe combined immunodeficiency with leukopenia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare genetic disease - Rare immune 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D004687		External references: 1 OMIM reference - 1 MeSH reference: C538361


COMMON SIGNS	- Anaemia - Chronic skin infection / ulcerations / ulcers / cancrum

Enchondromatosis		Reticular dysgenesis
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Bone tumefaction / swelling - Cavernous / tuberous hemangioma - Metaphyseal anomaly - 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 - Bone / osseous neoplasm / tumor / carcinoma / cancer - 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 - Acute diarrhea - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Autosomal recessive inheritance - Chronic / relapsing otitis - Hearing loss / hypoacusia / deafness - Immunodeficiency / increased susceptibility to infections / recurrent infections - Leukopenia / hypoleukocytosis - Polynuclear cells / neutrophils anomalies / neutropenia - Repeat respiratory infections - Respiratory chain / mitochondrial anomalies - Sepsis severe / septicemia - Severe combined immune deficiency syndrome / SCID - T-cell deficiency / cellular immunity deficiency - Thymic aplasia / hypoplasia Frequent - Early death / lethality - Failure to thrive / difficulties for feeding in infancy / growth delay - Fever / chilling - Malabsorption / chronic diarrhea / steatorrhea - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Cutaneous rash - Dehydration / hydroelectrolytic loss