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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
19 signs/symptoms
Autoimmune lymphoproliferative syndrome with recurrent infections
Spondylometaphyseal dysplasia - cone-rod dystrophy

CASP8 PCYT1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CASP8
(0.55)
PCYT1A



Citations in the biomedical literature:


Autoimmune lymphoproliferative syndrome with recurrent infections
CASP8
Spondylometaphyseal dysplasia - cone-rod dystrophy
PCYT1A



Autoimmune lymphoproliferative syndrome with recurrent infections
Spondylometaphyseal dysplasia - cone-rod dystrophy

Synonym(s):
- ALPS with recurrent infections

Synonym(s):
- SMD-CRD

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic 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: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
Average age of death: no data available
Type of inheritance: autosomal recessive

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

Spondylometaphyseal dysplasia - cone-rod dystrophy

Very frequent
- Bowed diaphysis / diaphyses / long bones
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Metaphyseal anomaly
- Platyspondyly
- Retinitis pigmentosa / retinal pigmentary changes
- Rhizomelic micromelia
- Short stature / dwarfism / nanism

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Astigmatism
- Hypermetropia
- Lordosis
- Myopia
- Nystagmus
- Photophobia
- Rib structure anomalies
- Scoliosis
- Visual loss / blindness / amblyopia

Occasional
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly


Autoimmune lymphoproliferative syndrome with recurrent infections

(no data available)