ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Autosomal dominant brachyolmia

Severe combined immunodeficiency due to LCK deficiency


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

Citations in the biomedical literature:

Autosomal dominant brachyolmia		Severe combined immunodeficiency due to LCK deficiency
	Synonym(s): - Brachyolmia type 3		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

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: - Average age onset: - 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 recessive

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

Autosomal dominant brachyolmia
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Kyphosis - Platyspondyly - Scoliosis - Short rib cage / thorax - Short stature / dwarfism / nanism Occasional - Metaphyseal anomaly
Severe combined immunodeficiency due to LCK deficiency
(no data available)