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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
25 signs/symptoms
Severe combined immunodeficiency due to LCK deficiency
Monosomy 5p

LCK CTNND2
SEMA5A


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Severe combined immunodeficiency due to LCK deficiency
LCK
Monosomy 5p
CTNND2 SEMA5A



Severe combined immunodeficiency due to LCK deficiency
Monosomy 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

Synonym(s):
- Cri du chat syndrome
- Deletion 5p

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

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

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)