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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Congenital muscular dystrophy, Ullrich type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type

COL6A1 COL2A1
COL6A2
COL6A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL6A1
(0.52)
COL2A1



Citations in the biomedical literature:


Congenital muscular dystrophy, Ullrich type
COL6A1 COL6A2 COL6A3
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
COL2A1



Congenital muscular dystrophy, Ullrich type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Synonym(s):
- Scleroatonic muscular dystrophy
- UCMD
- Ullrich disease

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Very frequent
- Autosomal dominant inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Lordosis
- Metaphyseal anomaly
- Platyspondyly
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism

Frequent
- Abnormal gait
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Flat face
- Genu valgum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Kyphosis
- Myopia
- Osteoarthritis
- Retinal detachment

Occasional
- Genu varum
- Odontoid hypoplasia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis
- Talipes-varus / metatarsal varus


Congenital muscular dystrophy, Ullrich type

(no data available)