PDGFB gene related symptoms and diseases
All the information presented here about the PDGFB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PDGFB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Chorea | Uncommon - Between 30% and 50% cases |
| Dementia | Uncommon - Between 30% and 50% cases |
| Depressivity | Uncommon - Between 30% and 50% cases |
| Headache | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PDGFB gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Dystonia
- Vertigo
- Dyskinesia
- Gait disturbance
- Parkinsonism
- Dysarthria
- Athetosis
- Psychosis
And 88 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PDGFB gene
Here you will find a list of rare diseases related to the PDGFB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
Description
Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare (Zang, 2001).Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (OMIM ), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2 ) associated with a mutation in the PTEN gene (OMIM ) developed a meningioma (Staal et al., 2002).
Most common symptoms of MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
- Neoplasm
- Meningioma
- Medulloblastoma
- Neoplasm of the central nervous system
More info about MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
BILATERAL STRIOPALLIDODENTATE CALCINOSIS
Alternate names
BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis, primary familial brain calcification, ferrocalcinosis, cerebrovascular, pfbc, bspdc, striopallidodentate calcinosis, bilateral, cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset, basal ganglia calcification, id
Description
Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
Most common symptoms of BILATERAL STRIOPALLIDODENTATE CALCINOSIS
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Ataxia
More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS
DERMATOFIBROSARCOMA PROTUBERANS
Alternate names
DERMATOFIBROSARCOMA PROTUBERANS Is also known as dfsp, giant cell fibroblastoma
Description
Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).
Most common symptoms of DERMATOFIBROSARCOMA PROTUBERANS
- Neoplasm
- Aggressive behavior
- Erythema
- Leukemia
- Subcutaneous nodule
More info about DERMATOFIBROSARCOMA PROTUBERANS
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5
Description
Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).
Most common symptoms of BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5
- Cognitive impairment
- Dysarthria
- Gait disturbance
- Dystonia
- Headache
More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5
SOURCES: OMIM
FAMILIAL MULTIPLE MENINGIOMA
Description
Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.
More info about FAMILIAL MULTIPLE MENINGIOMA
SOURCES: ORPHANET
Search interest in PDGFB
Potential gene panels for PDGFB gene
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
PDGFB. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PDGFB gene.
More info about this panel Spain.
Dermatofibrosarcoma protuberans (sequence analysis of PDGFB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PDGFB gene.
More info about this panel Portugal.
Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 XPR1 PDGFB PDGFRB
More info about this panel United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panel United States.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Dermatofibrosarcoma protuberans Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PDGFB gene.
More info about this panel Germany.
Basal ganglia calcification Panel Panel
Germany.
By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2
More info about this panel Germany.
FAMILIAL MULTIPLE MENINGIOMA Panel
Spain.
By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute FAMILIAL MULTIPLE MENINGIOMA that also includes the following genes: SMARCE1 SUFU MN1 NF2 PDGFB PTEN
More info about this panel Spain.
Fahr’s disease Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Fahr’s disease that also includes the following genes: SLC20A2 PDGFB PDGFRB
More info about this panel Spain.
PDGFB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PDGFB gene.
More info about this panel United States.
Parkinson Disease Panel Panel
Finland.
By Blueprint Genetics Parkinson Disease Panel that also includes the following genes: SLC20A2 SLC6A3 SNCA SPR SYNJ1 TH VPS35 FBXO7 PINK1 DNAJC6
More info about this panel Finland.
Dystonia Panel Panel
Finland.
By Blueprint Genetics Dystonia Panel that also includes the following genes: SGCE SLC2A1 SPR TH ANO3 KMT2B BCAP31 THAP1 FA2H ADCY5
More info about this panel Finland.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
BILATERAL STRIOPALLIDODENTATE CALCINOSIS (BSPDC) Panel
Spain.
By Laboratorio de Genetica Clinica SL BILATERAL STRIOPALLIDODENTATE CALCINOSIS (BSPDC) that also includes the following genes: SLC20A2 PDGFB PDGFRB
More info about this panel Spain.
Fahr Disease , Panel massive Sequencing (NGS) (SLC20A2, PDGFRB, PDGFB) Genes Panel
Spain.
By Reference Laboratory Genetics Fahr Disease , Panel massive Sequencing (NGS) (SLC20A2, PDGFRB, PDGFB) Genes that also includes the following genes: SLC20A2 PDGFB PDGFRB
More info about this panel Spain.
Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SMARCB1 SMARCE1 SUFU LZTR1 NF2 PDGFB PTEN
More info about this panel Spain.
Familial Meningioma , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Meningioma , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SMARCE1 SUFU MN1 NF2 PDGFB PTEN
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Primary Familial Brain Calcification: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Familial Brain Calcification: gene sequencing panel that also includes the following genes: SLC20A2 XPR1 PDGFB PDGFRB
More info about this panel Canada.
Primary Familial Brain Calcification: gene deletion/duplication panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Familial Brain Calcification: gene deletion/duplication panel that also includes the following genes: SLC20A2 PDGFB
More info about this panel Canada.
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