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.
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
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
Search interest in LTBP4
Potential gene panels for LTBP4 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 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 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 panelLTBP4. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LTBP4 gene.
More info about this panelCutis Laxa via LTBP4 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the LTBP4 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 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 1C, autosomal recessive Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the LTBP4 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 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 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 panelLTBP4 mutational analysis Panel
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the LTBP4 gene.
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 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 panelLTBP4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LTBP4 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 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 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 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 Recessive Cutis Laxa Type IC, Sequencing LTBP4 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the LTBP4 gene.
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 panelLTBP4-Related Cutis Laxa: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the LTBP4 gene.
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