PDGFRB gene related symptoms and diseases

All the information presented here about the PDGFRB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PDGFRB gene

Symptoms // Phenotype % Cases
Depressivity Uncommon - Between 30% and 50% cases
Scoliosis Rare - less than 30% cases
Pain Rare - less than 30% cases
Dementia Rare - less than 30% cases
Rigidity Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with PDGFRB gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Abnormal pyramidal sign
  • Cognitive impairment
  • Parkinsonism
  • Cerebral calcification
  • Bradykinesia
  • Progressive neurologic deterioration
  • Thin skin
  • Basal ganglia calcification

And 189 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PDGFRB gene

Here you will find a list of rare diseases related to the PDGFRB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHRONIC MYELOMONOCYTIC LEUKEMIA

Alternate names

CHRONIC MYELOMONOCYTIC LEUKEMIA Is also known as cmml


More info about CHRONIC MYELOMONOCYTIC LEUKEMIA

SOURCES: ORPHANET

INFANTILE MYOFIBROMATOSIS

Alternate names

INFANTILE MYOFIBROMATOSIS Is also known as myofibromatosis, juvenile, cgf, fibromatosis, congenital generalized

Description

Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts.

Most common symptoms of INFANTILE MYOFIBROMATOSIS

  • Neoplasm
  • Pain
  • Abnormality of the kidney
  • Abnormality of the eye
  • Limitation of joint mobility


More info about INFANTILE MYOFIBROMATOSIS

SOURCES: OMIM MESH ORPHANET

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Alternate names

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Description

Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

Most common symptoms of ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

SOURCES: ORPHANET OMIM MESH

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

SOURCES: ORPHANET OMIM

MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA

Alternate names

MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA Is also known as mpe, emp, eosinophils, malignant proliferation of

Most common symptoms of MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA

  • Eosinophilia
  • Myeloproliferative disorder
  • Malignant eosinophil proliferation


More info about MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA

SOURCES: OMIM MESH

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4

Description

Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by Nicolas 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, 4; IBGC4

  • Nystagmus
  • Cognitive impairment
  • Depressivity
  • Dementia
  • Hyperactivity


More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4

SOURCES: OMIM

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

Alternate names

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration, kosaki overgrowth syndrome

Description

Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

Most common symptoms of SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

  • Scoliosis
  • Neoplasm
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge


More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

SOURCES: OMIM ORPHANET

MYELOID/LYMPHOID NEOPLASM ASSOCIATED WITH PDGFRB REARRANGEMENT

Description

Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.


More info about MYELOID/LYMPHOID NEOPLASM ASSOCIATED WITH PDGFRB REARRANGEMENT

SOURCES: ORPHANET

PRIMARY HYPEREOSINOPHILIC SYNDROME

Alternate names

PRIMARY HYPEREOSINOPHILIC SYNDROME Is also known as neoplastic hypereosinophilic syndrome, hes-m, primary hes, hes-n, clonal hypereosinophilic syndrome

Most common symptoms of PRIMARY HYPEREOSINOPHILIC SYNDROME

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Leukemia
  • Bone marrow hypocellularity


More info about PRIMARY HYPEREOSINOPHILIC SYNDROME

SOURCES: ORPHANET

CHRONIC MYELOPROLIFERATIVE DISEASE, UNCLASSIFIABLE

Alternate names

CHRONIC MYELOPROLIFERATIVE DISEASE, UNCLASSIFIABLE Is also known as cmpd-u, undifferentiated myeloproliferative disease

Description

Chronic myeloproliferative disease, unclassifiable is a hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.


More info about CHRONIC MYELOPROLIFERATIVE DISEASE, UNCLASSIFIABLE

SOURCES: ORPHANET


Potential gene panels for PDGFRB 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.

PDGFRB. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PDGFRB gene.

More info about this panel
Spain.

Myeloproliferative disorder with eosinophilia (sequence analysis of PDGFRB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PDGFRB gene.

More info about this panel
Portugal.

RT-PCR t(5;12) (TEL/PDGFRb) Panel

Portugal.

By CGC Genetics RT-PCR t(5;12) (TEL/PDGFRb) that also includes the following genes: ETV6 PDGFRB

More info about this panel
Portugal.

Basal ganglia calcification, idiopathic 1 (sequence anaysis of PDGFRB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PDGFRB gene.

More info about this panel
Portugal.

Detection by FISH of PDGFRB (5q32) rearrangements Panel

Portugal.

By CGC Genetics

This panel specifically test the PDGFRB gene.

More info about this panel
Portugal.

Infantile myofibromatosis 1 (sequence analysis of PDGFRB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PDGFRB 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.

Infantile Myofibromatosis and Idiopathic Basal Ganglia Calcification via PDGFRB Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PDGFRB gene.

More info about this panel
United States.

Infantile Myofibromatosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Infantile Myofibromatosis Sequencing Panel with CNV Detection that also includes the following genes: NOTCH3 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.

Overgrowth syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Overgrowth syndrome NGS panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB

More info about this panel
United States.

Overgrowth syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Overgrowth syndrome Comprehensive panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB

More info about this panel
United States.

Overgrowth syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Overgrowth syndrome Deletion / Duplication panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB

More info about this panel
United States.

Progeroid syndromes and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel
United States.

Progeroid syndromes and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel
United States.

Progeroid syndromes and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel
United States.

Custom solid tumor gene sequencing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A

More info about this panel
United States.

Cancer Hotspot Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A

More info about this panel
Germany.

Solid Tumor Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A

More info about this panel
Germany.

Myeloproliferative disorder, chronic, with eosinophilia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PDGFRB gene.

More info about this panel
Germany.

Fluorescent in situ Hybridization - Hematopathology Panel

United States.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA Fluorescent in situ Hybridization - Hematopathology that also includes the following genes: BCL6 BCR RUNX1 ABI1 TCF3 TP53 DLEU1 CRLF2 RUNX1T1 CBFB

More info about this panel
United States.

Disorders associated with malignancy Panel Panel

Germany.

By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA

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.

Platelets, Coagulation disorders Panel Panel

Germany.

By CeGaT GmbH Platelets, Coagulation disorders Panel that also includes the following genes: VHL VWF ADAMTS13 TET2 DSG1 ENTPD1 ETV6 F10 F11 F12

More info about this panel
Germany.

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.

Dystonia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel
United States.

PDGFRB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PDGFRB gene.

More info about this panel
United States.

Onco microarray for ALL Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for ALL that also includes the following genes: BTG1 TP53 IKZF1 CDKN2A EBF1 ETV6 JAK2 PAX5 PDGFRB RB1

More info about this panel
United States.

Onco microarray for MDS/AML Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1

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.

Focus::Renal® NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Renal® NGS Panel that also includes the following genes: RHEB ROS1 BRAF ARID1A KDM5C SMO TP53 TSC1 TSC2 VHL

More info about this panel
United States.

Solid Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C

More info about this panel
United States.

Hematopoietic Disorders Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1

More info about this panel
United States.

Melanoma Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Melanoma Gene Set that also includes the following genes: ROS1 BRAF TERT MED12 TP53 KMT2C CCND1 CDK4 CDKN2A CTNNB1

More info about this panel
United States.

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel
United States.

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel
United States.

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.

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel
United States.

Infantile Myofibromatosis Type 1 , Sequencing PDGFRB Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PDGFRB gene.

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.

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel
United States.

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel
United States.

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.

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