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.

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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

SOURCES: ORPHANET MESH OMIM

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


Potential gene panels for EFEMP2 gene

Comprehensive Pulmonary Panel Panel

United States.

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 panel

EFEMP5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the EFEMP2 gene.

More info about this panel

Cystic Lung Disease Panel (8 Genes) Panel

United States.

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 panel

PulmoGene Panel (64 Genes) Panel

United States.

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 panel

Aortopathy Panel, Sequencing and Deletion/Duplication Panel

United States.

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 panel

Connective Tissue Disorders Panel Panel

United States.

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 panel

Cutis Laxa Panel Panel

United States.

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 panel

EFEMP2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EFEMP2 gene.

More info about this panel

Connective Tissue Seq Analysis Panel

United States.

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 panel

Connective Tissue Seq + Del/Dup Panel Panel

United States.

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 panel

Connective Tissue Del/Dup Panel Panel

United States.

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 panel

Cutis Laxa type 1A, recessive (sequence analysis of EFEMP2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EFEMP2 gene.

More info about this panel

Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel

United States.

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 panel

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

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 panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

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 panel

Cutis Laxa, Type 1B (ARCL1B) via EFEMP2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the EFEMP2 gene.

More info about this panel

Cutis laxa Deletion / Duplication panel Panel

United States.

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 panel

Cutis laxa NGS panel Panel

United States.

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 panel

Cutis laxa Comprehensive panel Panel

United States.

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 panel

Marfan syndrome, EDS and other connective tissue disorders - different panels Panel

Germany.

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 panel

Vascular and connective tissue diseases - panels Panel

Germany.

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 panel

Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) Panel

Germany.

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 panel

Cutis laxa panel Panel

Germany.

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 panel

Cutis laxa type IB Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EFEMP2 gene.

More info about this panel

Comprehensive pulmonary disease panel Panel

Germany.

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 panel

Marfan, Loeys-Dietz syndrome and related disorders panel Panel

Germany.

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 panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

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 panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

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 panel

Ehlers-Danlos Syndrome Panel

Estonia.

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 panel

HAD panel 2 Panel

Belgium.

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 panel

EFEMP2 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the EFEMP2 gene.

More info about this panel

Cutis laxa gene panel Panel

Belgium.

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 panel

Cardiovascular Diseases_General Panel Panel

Spain.

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 panel

Aortic diseases Panel Panel

Spain.

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 panel

Invitae Aortopathy Comprehensive Panel Panel

United States.

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 panel

NGS panel - Cutis laxa Panel

Netherlands.

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 panel

NGS panel - Aortic or arterial dilatation / dissection Panel

Netherlands.

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 panel

NGS panel- Aortic or arterial dilatation/dissection Panel

Netherlands.

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 panel

NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA Panel

Netherlands.

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 panel

NGS panel- Aortic or arterial dilatation/dissection + COL5A1 Panel

Netherlands.

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 panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

United States.

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 panel

Cystic Lung Disease: Sequencing Panel Panel

United States.

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 panel

Cystic Lung Disease: Deletion/Duplication Panel Panel

United States.

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 panel

Cystic Lung Disease NGS Panel Panel

United States.

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 panel

Lung Disorders NGS Panel Panel

United States.

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 panel

EFEMP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EFEMP2 gene.

More info about this panel

Cutis Laxa Panel Panel

Finland.

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 panel

Marfan Syndrome Panel Panel

Finland.

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 panel

Cystic Lung Disease Panel Panel

Finland.

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 panel

Aorta Panel Panel

Finland.

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 panel

Ehlers-Danlos Syndrome Panel Panel

Finland.

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 panel

Comprehensive Pulmonology Panel Panel

Finland.

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 panel

Autosomal recessive cutis laxa type 1 Panel

Spain.

By Bioarray

This panel specifically test the EFEMP2 gene.

More info about this panel

CUTIS LAXA: NGS PANEL Panel

Spain.

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 panel

CUTIS LAXA (AUTOSOMAL RECESSIVE) Panel

Spain.

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 panel

Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

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 panel

Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel

Spain.

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 panel

EFEMP2-Related Cutis Laxa: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the EFEMP2 gene.

More info about this panel


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