MATN3 gene related symptoms and diseases

All the information presented here about the MATN3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MATN3 gene

Symptoms // Phenotype % Cases
Short stature Common - Between 50% and 80% cases
Waddling gait Common - Between 50% and 80% cases
Small epiphyses Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Irregular epiphyses Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MATN3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Bowing of the legs
  • Hyperlordosis
  • Platyspondyly
  • Micromelia
  • Flat face
  • Limb undergrowth
  • Lumbar hyperlordosis
  • Short long bone

And 42 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MATN3 gene

Here you will find a list of rare diseases related to the MATN3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5


Alternate names

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 Is also known as multiple epiphyseal dysplasia, matn3-related, polyepiphyseal dysplasia type 5, microepiphyseal dysplasia, bilateral hereditary, edm5, bhmed, med5, bilateral hereditary micro-epiphyseal dysplasia

Description

Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.

Most common symptoms of MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5

  • Short stature
  • Pain
  • Gait disturbance
  • Fatigue
  • Abnormality of the skeletal system


More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5

SOURCES: OMIM ORPHANET MESH

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE


Alternate names

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE Is also known as semd, matrilin-3 type, semd, matn3-related

Description

Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.

Most common symptoms of SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE

  • Short stature
  • Pectus excavatum
  • Severe short stature
  • Hyperlordosis
  • Platyspondyly


More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE

SOURCES: OMIM ORPHANET MESH

OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2


Alternate names

OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2 Is also known as dipoa, hoa, hand osteoarthritis, oadip, osteoarthritis of distal interphalangeal joints

Description

In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints (Stefansson et al., 2003). Patients with osteoarthritis may have one, a few, or all of these sites affected. Heberden nodes are bony excrescences of the phalanges of the distal interphalangeal joints of the fingers (Stecher, 1955). They can be considered a variety of osteoarthrosis, or degenerative arthritis.For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 (OMIM ).

Most common symptoms of OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2

  • Arthritis
  • Osteoarthritis
  • Heberden's node


More info about OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2

SOURCES: OMIM


Potential gene panels for MATN3 gene

MATN3. Sequencing of the exon 2 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MATN3 gene.

More info about this panel

MATN3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MATN3 gene.

More info about this panel

Epiphyseal dysplasia multiple (NGS panel for 7 gene) Panel

Portugal.

By CGC Genetics Epiphyseal dysplasia multiple (NGS panel for 7 gene) that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

Multiple Epiphyseal Dysplasia via MATN3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MATN3 gene.

More info about this panel

Multiple Epiphyseal Dysplasia Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Multiple Epiphyseal Dysplasia Sequencing Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel that also includes the following genes: SLC26A2 CANT1 COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

Multiple epiphyseal dysplasia (MED) NGS panel Panel

United States.

By Connective Tissue Gene Tests Multiple epiphyseal dysplasia (MED) NGS panel that also includes the following genes: SLC26A2 CANT1 COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

Multiple epiphyseal dysplasia (MED) Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Multiple epiphyseal dysplasia (MED) Comprehensive panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Multiple Epiphyseal Dysplasia, Dominant Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum Multiple Epiphyseal Dysplasia, Dominant that also includes the following genes: COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

Single gene testing MATN3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the MATN3 gene.

More info about this panel

Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel Panel

Germany.

By CeGaT GmbH Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel that also includes the following genes: RMRP SMARCAL1 ACP5 CCN6 XYLT1 RAB33B B3GALT6 TRPV4 CHST3 CANT1

More info about this panel

Multiple epiphyseal dysplasia and pseudoachondroplasia Panel Panel

Germany.

By CeGaT GmbH Multiple epiphyseal dysplasia and pseudoachondroplasia Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3 PTH1R

More info about this panel

Multiple epiphyseal dysplasia, MATN3 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the MATN3 gene.

More info about this panel

Epiphyseal dysplasia, multiple, 5 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MATN3 gene.

More info about this panel

Spondyloepimetaphyseal dysplasia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MATN3 gene.

More info about this panel

Epiphyseal dysplasia, multiple, 5 Panel

Slovakia.

By MedGene

This panel specifically test the MATN3 gene.

More info about this panel

Spondyloepimetaphyseal dysplasia Panel

Slovakia.

By MedGene

This panel specifically test the MATN3 gene.

More info about this panel

Multiple epiphyseal dysplasia: COMP gene (exons 8-14) and MATN3 gene (exon 2) screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Multiple epiphyseal dysplasia: COMP gene (exons 8-14) and MATN3 gene (exon 2) screening that also includes the following genes: COMP MATN3

More info about this panel

Multiple epiphyseal dysplasia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Multiple epiphyseal dysplasia that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

Skeletal dysplasias Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1

More info about this panel

Multiple Epiphyseal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Multiple Epiphyseal Dysplasia: Sequencing Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

Disproportionate Short Stature: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1

More info about this panel

Multiple Epiphyseal Dysplasia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Multiple Epiphyseal Dysplasia NGS Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

MATN3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MATN3 gene.

More info about this panel

Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel that also includes the following genes: RMRP BGN SMARCAL1 ACP5 CCN6 RAB33B B3GALT6 TRPV4 CHST3 CANT1

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

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

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

Multiple epiphyseal dysplasia type 5 Panel

Spain.

By Bioarray

This panel specifically test the MATN3 gene.

More info about this panel

Multiple epiphyseal dysplasia type 1 Panel

Spain.

By Bioarray

This panel specifically test the MATN3 gene.

More info about this panel

EPIPHYSEAL DYSPLASIA, MULTIPLE (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL EPIPHYSEAL DYSPLASIA, MULTIPLE (AUTOSOMAL DOMINANT) that also includes the following genes: COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

Multiple Epiphyseal Dysplasia , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Multiple Epiphyseal Dysplasia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3

More info about this panel

Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel

Spain.

By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1

More info about this panel


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