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4 OMIM references -
3 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
Bilateral striopallidodentate calcinosis
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

PDGFB PTEN
PDGFRB
SLC20A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PDGFRB
(0.85)
PTEN



Citations in the biomedical literature:


Bilateral striopallidodentate calcinosis
PDGFB PDGFRB SLC20A2
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
PTEN



Bilateral striopallidodentate calcinosis
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

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

Synonym(s):
- SOLAMEN syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Bilateral striopallidodentate calcinosis
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

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
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Autosomal dominant inheritance
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Follicular / erythematous / edematous papules / milium
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lymphangioma / lymphatic malformations
- Rippled skin
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Varices / varicous veins / venous insufficiency

Frequent
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mutiple fractures / bone fragility
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Talipes-varus / metatarsal varus
- Thyroid neoplasm / tumor / carcinoma / cancer
- Visceral angiomatosis (excluding skin)