LTBP4 gene related symptoms and diseases

All the information presented here about the LTBP4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LTBP4 gene

Symptoms // Phenotype % Cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Dilatation Very Common - Between 80% and 100% cases
Respiratory failure Very Common - Between 80% and 100% cases
Muscular dystrophy Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LTBP4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Limb muscle weakness
  • Falls
  • Distal amyotrophy
  • Macroglossia
  • Attention deficit hyperactivity disorder
  • Chest pain
  • Sudden cardiac death
  • Waddling gait

And 116 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LTBP4 gene

Here you will find a list of rare diseases related to the LTBP4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES


Alternate names

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome, arcl1c, autosomal recessive cutis laxa type 1c, urds, cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Description

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Most common symptoms of CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

SOURCES: MESH OMIM ORPHANET

DUCHENNE MUSCULAR DYSTROPHY


Alternate names

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd, duchenne muscular dystrophy, severe dystrophinopathy, duchenne type, muscular dystrophy, pseudohypertrophic progressive, duchenne type

Description

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

Most common symptoms of DUCHENNE MUSCULAR DYSTROPHY

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


More info about DUCHENNE MUSCULAR DYSTROPHY

SOURCES: OMIM MESH ORPHANET


Potential gene panels for LTBP4 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

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

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

LTBP4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LTBP4 gene.

More info about this panel

Cutis Laxa via LTBP4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LTBP4 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

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 1C, autosomal recessive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LTBP4 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

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

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

LTBP4 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the LTBP4 gene.

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

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

LTBP4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LTBP4 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

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

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

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 Recessive Cutis Laxa Type IC, Sequencing LTBP4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LTBP4 gene.

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

LTBP4-Related Cutis Laxa: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the LTBP4 gene.

More info about this panel


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