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1 associated gene
22 signs/symptoms
PROTEIN INTERACTIONS: 1
7 OMIM references -
9 associated genes
No signs/symptoms info
Dysspondyloenchondromatosis
Immunodeficiency due to an early component of complement deficiency

COL2A1 C1QA
C1QB
C1QC
C1R
C1S
C2
C4A
C4B
SERPING1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
(0.52)
C1QA



Citations in the biomedical literature:


Dysspondyloenchondromatosis
COL2A1
Immunodeficiency due to an early component of complement deficiency
C1QA C1QB C1QC C1R C1S C2
C4A C4B SERPING1



Dysspondyloenchondromatosis
Immunodeficiency due to an early component of complement deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Immunodeficiency due to a C1, C4, or C2 component complement deficiency

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
7 OMIM references -
No MeSH references

Dysspondyloenchondromatosis

Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Exostoses
- Joint / articular deformation
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Scoliosis
- Short stature / dwarfism / nanism
- Vascular anomalies of skin / mucosae
- Vertebral segmentation anomaly / hemivertebrae

Frequent
- Delayed bone age
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Genu valgum
- Osteoarthritis
- Platyspondyly
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Occasional
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications


Immunodeficiency due to an early component of complement deficiency

(no data available)