ODCs

Click node...

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
5 signs/symptoms

Severe combined immunodeficiency due to LCK deficiency

Autosomal dominant congenital benign spinal muscular atrophy


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		Autosomal dominant congenital benign spinal muscular atrophy
	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): - Autosomal dominant benign distal spinal muscular atrophy - Congenital benign spinal muscular atrophy with contractures - Congenital nonprogressive spinal muscular atrophy

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Diseases of the nervous system -

	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: (no data available)

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

Autosomal dominant congenital benign spinal muscular atrophy
	Very frequent - Autosomal recessive inheritance - Hypotonia - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Restricted joint mobility / joint stiffness / ankylosis - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
Severe combined immunodeficiency due to LCK deficiency
(no data available)