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1 OMIM reference -
2 associated genes
25 signs/symptoms

PROTEIN INTERACTIONS: 1

Severe combined immunodeficiency due to LCK deficiency

1 associated gene
No signs/symptoms info

Monosomy 5p

Severe combined immunodeficiency due to LCK deficiency

CTNND2	(UniProt - OMIM)		LCK	(UniProt - OMIM)
SEMA5A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTNND2	(0.55)	LCK

Citations in the biomedical literature:

Monosomy 5p		Severe combined immunodeficiency due to LCK deficiency
	Synonym(s): - Cri du chat syndrome - Deletion 5p		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 developmental defect during embryogenesis - Rare eye disease - 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: 1-9 / 100 000 Average age onset: neonatal/infancy 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: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 2 MeSH references: C538482 / D003410		External references: No OMIM references No MeSH references

Monosomy 5p
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Broad nasal root - Epicanthic folds - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Round face - Total / partial trisomy / duplication Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - High vaulted / narrow palate - Hypertelorism - Intrauterine growth retardation - Scoliosis - Short neck - Short stature / dwarfism / nanism - Small hand / acromicria Occasional - Abnormal / absent ossification - Congenital cardiac anomaly / malformation / cardiopathy - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Mutiple fractures / bone fragility - Preauricular / branchial tags / appendages - Syndactyly of fingers / interdigital palm
Severe combined immunodeficiency due to LCK deficiency
(no data available)