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4 OMIM references -
3 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
22 signs/symptoms
Bilateral striopallidodentate calcinosis
Stickler syndrome type 1

PDGFB COL2A1
PDGFRB
SLC20A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PDGFB
(0.68)
COL2A1



Citations in the biomedical literature:


Bilateral striopallidodentate calcinosis
PDGFB PDGFRB SLC20A2
Stickler syndrome type 1
COL2A1



Bilateral striopallidodentate calcinosis
Stickler syndrome type 1

Synonym(s):
- BSPDC
- Cerebrovascular ferrocalcinosis
- Idiopathic basal ganglia calcification

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Bilateral striopallidodentate calcinosis
Stickler syndrome type 1

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Autosomal recessive inheritance
- Dilated cerebral ventricles without hydrocephaly
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intracranial / cerebral calcifications
- Intrauterine growth retardation
- Microcephaly
- Purpura / petichiae
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thrombocytopenia / thrombopenia

Frequent
- Corneal clouding / opacity / vascularisation
- Structural anomalies of the liver and the biliary tract



Very frequent
- Autosomal dominant inheritance
- Cataract / lens opacification
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Long philtrum
- Myopia
- Retinal detachment
- Short / small nose
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Frequent
- Articular / joint pain / arthralgia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Epiphyseal anomaly
- Epiphyseal vertebral anomaly
- Hyperextensible joints / articular hyperlaxity
- Marfanoid morphotype
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Osteoarthritis
- Platyspondyly
- Proptosis / exophthalmos
- Sensorineural deafness / hearing loss

Occasional
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Visual loss / blindness / amblyopia