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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
22 signs/symptoms
Severe combined immunodeficiency due to LCK deficiency
Spondylometaphyseal dysplasia, Kozlowski type

LCK TRPV4


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
LCK
Spondylometaphyseal dysplasia, Kozlowski type
TRPV4



Severe combined immunodeficiency due to LCK deficiency
Spondylometaphyseal dysplasia, Kozlowski type

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):
- 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 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535797

Spondylometaphyseal dysplasia, Kozlowski type

Very frequent
- Abnormal gait
- Autosomal dominant inheritance
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Metaphyseal anomaly
- Platyspondyly
- Short rib cage / thorax
- Short stature / dwarfism / nanism

Frequent
- Delayed bone age
- Depressed nasal bridge
- Genu valgum
- High forehead
- Joint / articular deformation
- Kyphosis
- Pectus carinatum
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Short hand / brachydactyly
- Short neck

Occasional
- Clavicle absent / abnormal
- Epiphyseal anomaly
- Narrow rib cage / thorax
- Odontoid hypoplasia


Severe combined immunodeficiency due to LCK deficiency

(no data available)