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1 associated gene
22 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
2 OMIM references -
2 associated genes
10 signs/symptoms
Dysspondyloenchondromatosis
Metaphyseal anadysplasia

COL2A1 MMP13
MMP9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
(0.52)
MMP13



Citations in the biomedical literature:


Dysspondyloenchondromatosis
COL2A1
Metaphyseal anadysplasia
MMP13 MMP9



Dysspondyloenchondromatosis
Metaphyseal anadysplasia

Synonym(s):
(no synonyms)

Synonym(s):
- Maroteaux-Verloes-Stanescu syndrome
- Regressive metaphyseal dysplasia

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C537351


COMMON
SIGNS
- Short stature / dwarfism / nanism
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray


Dysspondyloenchondromatosis
Metaphyseal anadysplasia

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
- 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

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


Very frequent
- Bowed diaphysis / diaphyses / long bones
- Epiphyseal anomaly
- Lower limb segmental anomalies
- Metaphyseal anomaly
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Restricted joint mobility / joint stiffness / ankylosis
- Rhizomelic micromelia
- X-linked recessive inheritance