LTBP3 gene related symptoms and diseases

All the information presented here about the LTBP3 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 LTBP3 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Short palm Common - Between 50% and 80% cases
Thickened skin Common - Between 50% and 80% cases
Round face Common - Between 50% and 80% cases
Small hand Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with LTBP3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Joint stiffness
  • Long philtrum
  • Anteverted nares
  • Abnormal facial shape
  • Delayed skeletal maturation
  • Not very common - Between 30% and 50% cases

  • Osteopenia
  • Thick vermilion border
  • Short nose

And 105 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LTBP3 gene

Here you will find a list of rare diseases related to the LTBP3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME


Alternate names

BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME Is also known as vbs, platyspondyly with amelogenesis imperfecta, sthag6, formerly, tooth agenesis, selective, 6, formerly, platyspondyly-amelogenesis imperfecta syndrome, verloes-bourguignon syndrome

Description

Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.

Most common symptoms of BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Myopia
  • Abnormality of the dentition


More info about BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME

SOURCES: ORPHANET OMIM

ACROMICRIC DYSPLASIA


Description

Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Most common symptoms of ACROMICRIC DYSPLASIA

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares


More info about ACROMICRIC DYSPLASIA

SOURCES: OMIM ORPHANET MESH

GELEOPHYSIC DYSPLASIA


Alternate names

GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism

Description

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

Most common symptoms of GELEOPHYSIC DYSPLASIA

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


More info about GELEOPHYSIC DYSPLASIA

SOURCES: ORPHANET OMIM

GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Most common symptoms of GELEOPHYSIC DYSPLASIA 3; GPHYSD3

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

SOURCES: OMIM


Potential gene panels for LTBP3 gene

Platyspondyly with amelogenesis imperfecta (sequence analysis of LTBP3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LTBP3 gene.

More info about this panel

Platyspondyly with amelogenesis imperfecta (sequence analysis of LTBP3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LTBP3 gene.

More info about this panel

Amelogenesis Imperfecta Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Amelogenesis Imperfecta Sequencing Panel with CNV Detection that also includes the following genes: CNNM4 SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 ROGDI ENAM

More info about this panel

Dental Anomalies and Amelogenesis Imperfecta via LTBP3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LTBP3 gene.

More info about this panel

Tooth Agenesis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Tooth Agenesis Sequencing Panel with CNV Detection that also includes the following genes: WNT10A EDARADD EDAR EDA LTBP3 MSX1 PAX9 AXIN2

More info about this panel

Oligodontia - Selective tooth agenesis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis Comprehensive panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel

Oligodontia - Selective tooth agenesis NGS panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis NGS panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel

Oligodontia - Selective tooth agenesis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis Deletion / Duplication panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel

Connective tissue disorder Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Connective tissue disorder Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Connective tissue disorder NGS panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Glaucoma Panel

Estonia.

By Asper Biogene Asper Biogene LLC Glaucoma that also includes the following genes: SLC4A4 BEST1 ACVR1 OPTN ASB10 CANT1 SBF2 COL18A1 CYP1B1 WDR36

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel Panel

United States.

By Invitae Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel that also includes the following genes: WNT10A EDARADD EDAR EDA LTBP3 MSX1 NFKBIA PAX9

More info about this panel

LTBP3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LTBP3 gene.

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel Panel

Finland.

By Blueprint Genetics Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel that also includes the following genes: SLC24A4 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68 AMELX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Geleophysic Dysplasia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Geleophysic Dysplasia: gene sequencing panel that also includes the following genes: ADAMTSL2 FBN1 LTBP3

More info about this panel


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