ODCs

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3 OMIM references -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
17 signs/symptoms

Autoimmune lymphoproliferative syndrome

Metaphyseal dysplasia - maxillary hypoplasia - brachydacty


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PRKCD	(0.55)	RUNX2

Citations in the biomedical literature:

Autoimmune lymphoproliferative syndrome		Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
	Synonym(s): - ALPS - Canale-Smith syndrome - FAS deficiency		Synonym(s): (no synonyms)

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: D056735		External references: 1 OMIM reference - No MeSH references

Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
	Very frequent - Autosomal dominant inheritance - Beaked nose - Dental staining anomaly / spotted teeth / erythrodontia - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Short hand / brachydactyly - Short philtrum - Short stature / dwarfism / nanism - Thin / retracted lips Frequent - Abnormal vertebral size / shape - Camptodactyly of fingers - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Mutiple fractures / bone fragility
Autoimmune lymphoproliferative syndrome
(no data available)