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Bilateral striopallidodentate calcinosis
4 OMIM references -
3 associated genes
130 connected diseases
12 signs/symptoms
Disease Type of connection
Idiopathic hypereosinophilic syndrome
Dermatofibrosarcoma protuberans
Chronic myelomonocytic leukemia
Familial multiple meningioma
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Precursor B-cell acute lymphoblastic leukemia
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
LEOPARD syndrome
Noonan syndrome
Gastrointestinal stromal tumor
Myeloid neoplasm associated with PDGFRA rearrangement
Juvenile myelomonocytic leukemia
Ehlers-Danlos syndrome type 1
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Cowden syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Autosomal agammaglobulinemia
SHORT syndrome
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Pilocytic astrocytoma
Bannayan-Riley-Ruvalcaba syndrome
Dyssegmental dysplasia, Silverman-Handmaker type
Hereditary breast and ovarian cancer syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Schwartz-Jampel syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Giant cell glioblastoma
Caffey disease
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Autosomal dominant limb-girdle muscular dystrophy type 1C
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Rippling muscle disease
Romano-Ward syndrome
Autosomal dominant macrothrombocytopenia
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia
Achondrogenesis type 2
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Autosomal dominant rhegmatogenous retinal detachment
Bethlem myopathy
Congenital muscular dystrophy, Ullrich type
Czech dysplasia, metatarsal type
Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, vascular type
Familial abdominal aortic aneurysm
Familial avascular necrosis of femoral head
Familial cerebral saccular aneurysm
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial porencephaly
Familial vascular leukoencephalopathy
Giant cell arteritis
Granulomatosis with polyangiitis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Pediatric systemic lupus erythematosus
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
T-B+ severe combined immunodeficiency due to CD45 deficiency
Walker-Warburg syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Congenital mesoblastic nephroma
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Spondylocarpotarsal synostosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Autosomal dominant nonsyndromic intellectual deficit
Acute promyelocytic leukemia
Autosomal dominant hyper-IgE syndrome
CLOVE syndrome
Costello syndrome
Hereditary nonpolyposis colon cancer
Laron syndrome with immunodeficiency
Linear nevus sebaceus syndrome
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Phakomatosis pigmentokeratotica
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Distal 22q11.2 microdeletion syndrome
- Cerebrovascular ferrocalcinosis
- Idiopathic basal ganglia calcification

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
PDGFB P01127190040
PDGFRB P09619173410
SLC20A2 Q08357158378
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

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