EFEMP2 gene related symptoms and diseases
All the information presented here about the EFEMP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EFEMP2 gene
Symptoms // Phenotype | % Cases |
---|---|
Aortic aneurysm | Common - Between 50% and 80% cases |
Pectus excavatum | Common - Between 50% and 80% cases |
Cutis laxa | Common - Between 50% and 80% cases |
Arterial stenosis | Common - Between 50% and 80% cases |
Congenital diaphragmatic hernia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with EFEMP2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Oligohydramnios
- Overgrowth
- Recurrent fractures
- Arachnodactyly
- Emphysema
- Inguinal hernia
- Joint laxity
- Hernia
And 84 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EFEMP2 gene
Here you will find a list of rare diseases related to the EFEMP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B
Description
Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).
Most common symptoms of CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B
- Generalized hypotonia
- Microcephaly
- Hypertelorism
- Micrognathia
- Abnormal facial shape
More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B
SOURCES: OMIM
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1
Alternate names
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1, autosomal recessive cutis laxa with severe systemic involvement, cutis laxa, autosomal recessive, autosomal recessive cutis laxa, pulmonary emphysema type
Description
Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
Most common symptoms of AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Microcephaly
- Sensorineural hearing impairment
More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1
LETHAL ARTERIOPATHY SYNDROME DUE TO FIBULIN-4 DEFICIENCY
Description
Lethal arteriopathy syndrome due to fibulin-4 deficiency is a rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
More info about LETHAL ARTERIOPATHY SYNDROME DUE TO FIBULIN-4 DEFICIENCY
SOURCES: ORPHANET
Search interest in EFEMP2
Potential gene panels for EFEMP2 gene
Comprehensive Pulmonary Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panelEFEMP5 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the EFEMP2 gene.
More info about this panelCystic Lung Disease Panel (8 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Cystic Lung Disease Panel (8 Genes) that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1
More info about this panelPulmoGene Panel (64 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panelAortopathy Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Aortopathy Panel, Sequencing and Deletion/Duplication that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2
More info about this panelConnective Tissue Disorders Panel Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panelCutis Laxa Panel Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Cutis Laxa Panel that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 PTDSS1 PYCR1 ALDH18A1
More info about this panelEFEMP2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EFEMP2 gene.
More info about this panelConnective Tissue Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq Analysis that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL1A2
More info about this panelConnective Tissue Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq + Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panelConnective Tissue Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panelCutis Laxa type 1A, recessive (sequence analysis of EFEMP2 gene) Panel
By CGC Genetics
This panel specifically test the EFEMP2 gene.
More info about this panelMarfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection that also includes the following genes: SKI SMS TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panelEhlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6
More info about this panelComprehensive Cardiology Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panelCutis Laxa, Type 1B (ARCL1B) via EFEMP2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the EFEMP2 gene.
More info about this panelCutis laxa Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Cutis laxa Deletion / Duplication panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1
More info about this panelCutis laxa NGS panel Panel
By Connective Tissue Gene Tests Cutis laxa NGS panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1
More info about this panelCutis laxa Comprehensive panel Panel
By Connective Tissue Gene Tests Cutis laxa Comprehensive panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1
More info about this panelMarfan syndrome, EDS and other connective tissue disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Marfan syndrome, EDS and other connective tissue disorders - different panels that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS GATA5
More info about this panelVascular and connective tissue diseases - panels Panel
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panelThoracic Aortic Aneurysms and Aortic Dissections (TAAD) Panel
By MGZ Medical Genetics Center Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 EFEMP2 FBN1
More info about this panelCutis laxa panel Panel
By Centogene AG - the Rare Disease Company Cutis laxa panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1
More info about this panelCutis laxa type IB Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the EFEMP2 gene.
More info about this panelComprehensive pulmonary disease panel Panel
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panelMarfan, Loeys-Dietz syndrome and related disorders panel Panel
By Centogene AG - the Rare Disease Company Marfan, Loeys-Dietz syndrome and related disorders panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 SLC2A10 COL3A1 COL5A1 COL5A2 EFEMP2
More info about this panelConnective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panelConnective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panelEhlers-Danlos Syndrome Panel
By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2
More info about this panelHAD panel 2 Panel
By Connective Tissue Laboratory Ghent University Hospital HAD panel 2 that also includes the following genes: ADAMTS10 SLC2A10 EFEMP2 ELN FBN2 FLNA MYLK NOTCH1 PRKG1
More info about this panelEFEMP2 mutational analysis Panel
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the EFEMP2 gene.
More info about this panelCutis laxa gene panel Panel
By Connective Tissue Laboratory Ghent University Hospital Cutis laxa gene panel that also includes the following genes: TALDO1 ATP6V0A2 COG7 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelAortic diseases Panel Panel
By Health in Code Aortic diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS GATA5
More info about this panelInvitae Aortopathy Comprehensive Panel Panel
By Invitae Invitae Aortopathy Comprehensive Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panelNGS panel - Cutis laxa Panel
By Genome Diagnostics VU University Medical Center NGS panel - Cutis laxa that also includes the following genes: RIN2 EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1
More info about this panelNGS panel - Aortic or arterial dilatation / dissection Panel
By Genome Diagnostics VU University Medical Center NGS panel - Aortic or arterial dilatation / dissection that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 EFEMP2
More info about this panelNGS panel- Aortic or arterial dilatation/dissection Panel
By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 EFEMP2
More info about this panelNGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA Panel
By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 COL5A1
More info about this panelNGS panel- Aortic or arterial dilatation/dissection + COL5A1 Panel
By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection + COL5A1 that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 COL5A1
More info about this panelPulmonary Disease: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT
More info about this panelCystic Lung Disease: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cystic Lung Disease: Sequencing Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1
More info about this panelCystic Lung Disease: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cystic Lung Disease: Deletion/Duplication Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1
More info about this panelCystic Lung Disease NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Cystic Lung Disease NGS Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1
More info about this panelLung Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC
More info about this panelEFEMP2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EFEMP2 gene.
More info about this panelCutis Laxa Panel Panel
By Blueprint Genetics Cutis Laxa Panel that also includes the following genes: SLC2A10 ATP6V0A2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1
More info about this panelMarfan Syndrome Panel Panel
By Blueprint Genetics Marfan Syndrome Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ADAMTS10 SLC2A10 CBS
More info about this panelCystic Lung Disease Panel Panel
By Blueprint Genetics Cystic Lung Disease Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1
More info about this panelAorta Panel Panel
By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS
More info about this panelEhlers-Danlos Syndrome Panel Panel
By Blueprint Genetics Ehlers-Danlos Syndrome Panel that also includes the following genes: BGN TGFB2 TGFBR1 TGFBR2 CBS ATP6V0A2 FKBP14 SLC39A13 DSE ADAMTS2
More info about this panelComprehensive Pulmonology Panel Panel
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
More info about this panelAutosomal recessive cutis laxa type 1 Panel
By Bioarray
This panel specifically test the EFEMP2 gene.
More info about this panelCUTIS LAXA: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CUTIS LAXA: NGS PANEL that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1
More info about this panelCUTIS LAXA (AUTOSOMAL RECESSIVE) Panel
By Laboratorio de Genetica Clinica SL CUTIS LAXA (AUTOSOMAL RECESSIVE) that also includes the following genes: ATP6V0A2 EFEMP2 FBLN5 LTBP4 PYCR1 ALDH18A1
More info about this panelAutosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes Panel
By Reference Laboratory Genetics Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TALDO1 ATP6V0A2 COG7 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A
More info about this panelConective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel
By Reference Laboratory Genetics Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 ADAMTS10 SLC2A10 CBS ACVR1
More info about this panelEFEMP2-Related Cutis Laxa: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the EFEMP2 gene.
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