ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
4 signs/symptoms

Severe combined immunodeficiency due to LCK deficiency

Familial digital arthropathy-brachydactyly


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LCK	(0.74)	TRPV4

Citations in the biomedical literature:

Severe combined immunodeficiency due to LCK deficiency		Familial digital arthropathy-brachydactyly
	Synonym(s): - SCID due to LCK deficiency - SCID due to lymphocyte-specific protein tyrosine kinase deficiency - Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare immune 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): - Diseases of the musculoskeletal system and connective tissue -

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

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

Familial digital arthropathy-brachydactyly
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Autosomal dominant inheritance - Irregular length / shape of fingers - Short hand / brachydactyly
Severe combined immunodeficiency due to LCK deficiency
(no data available)