CANT1 gene related symptoms and diseases

All the information presented here about the CANT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CANT1 gene

Symptoms // Phenotype % Cases
Scoliosis Very Common - Between 80% and 100% cases
Advanced ossification of carpal bones Very Common - Between 80% and 100% cases
Short femoral neck Very Common - Between 80% and 100% cases
Clinodactyly Common - Between 50% and 80% cases
Severe short stature Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CANT1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Metaphyseal widening
  • Proptosis
  • Pes planus
  • Joint laxity
  • Postnatal growth retardation
  • Narrow chest
  • Flat face
  • Respiratory distress

And 133 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CANT1 gene

Here you will find a list of rare diseases related to the CANT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7

Most common symptoms of EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7

  • Scoliosis
  • Platyspondyly
  • Joint dislocation
  • Genu varum
  • Abnormality of the hand


More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7

SOURCES: OMIM

DESBUQUOIS SYNDROME

Alternate names

DESBUQUOIS SYNDROME Is also known as desbuquois dysplasia, dbqd

Description

Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

Most common symptoms of DESBUQUOIS SYNDROME

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


More info about DESBUQUOIS SYNDROME

SOURCES: OMIM ORPHANET

DESBUQUOIS DYSPLASIA 1; DBQD1

Alternate names

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome, micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Description

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

Most common symptoms of DESBUQUOIS DYSPLASIA 1; DBQD1

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


More info about DESBUQUOIS DYSPLASIA 1; DBQD1

SOURCES: OMIM


Potential gene panels for CANT1 gene

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel
United States.

Optic Atrophy and Early Glaucoma Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP

More info about this panel
United States.

CANT1 - Desbuquois syndrome Panel

Switzerland.

By Centre of Molecular Diseases (CMM) CHUV

This panel specifically test the CANT1 gene.

More info about this panel
Switzerland.

CANT1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CANT1 gene.

More info about this panel
Spain.

Desbuquois syndrome (sequence analysis of CANT1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CANT1 gene.

More info about this panel
Portugal.

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
United States.

Desbuquois dysplasia and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders Deletion / Duplication panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22

More info about this panel
United States.

Desbuquois dysplasia and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders NGS panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22

More info about this panel
United States.

Desbuquois dysplasia and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders Comprehensive panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22

More info about this panel
United States.

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
United States.

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
United States.

Desbuquois dysplasia core Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia core Comprehensive panel that also includes the following genes: XYLT1 CANT1 CSGALNACT1 IMPAD1

More info about this panel
United States.

Desbuquois dysplasia core Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia core Deletion / Duplication panel that also includes the following genes: XYLT1 CANT1 CSGALNACT1 IMPAD1

More info about this panel
United States.

Desbuquois dysplasia core NGS panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia core NGS panel that also includes the following genes: XYLT1 CANT1 CSGALNACT1 IMPAD1

More info about this panel
United States.

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
United States.

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
United States.

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
United States.

Desbuquois dysplasia 1 NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the CANT1 gene.

More info about this panel
United States.

Desbuquois dysplasia 1 Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the CANT1 gene.

More info about this panel
United States.

Desbuquois dysplasia 1 Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the CANT1 gene.

More info about this panel
United States.

Desbuquois Dysplasia Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CANT1 gene.

More info about this panel
Germany.

Desbuquois dysplasia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CANT1 gene.

More info about this panel
Germany.

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
Germany.

Potentially lethal skeletal disorders Panel Panel

Germany.

By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1

More info about this panel
Germany.

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
Estonia.

Glaucoma (Advance) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2

More info about this panel
Spain.

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
United States.

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
United States.

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
United States.

Glaucoma NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2

More info about this panel
United States.

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel
United States.

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
United States.

CANT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CANT1 gene.

More info about this panel
United States.

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
Finland.

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
Finland.

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
Finland.

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
Finland.

Desbuquois dysplasia Panel

Spain.

By Bioarray

This panel specifically test the CANT1 gene.

More info about this panel
Spain.

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel
United States.

GLAUCOMA NGS ÀNEL Panel

Spain.

By Laboratorio de Genetica Clinica SL GLAUCOMA NGS ÀNEL that also includes the following genes: SLC4A4 TEK BEST1 ACVR1 OPTN ASB10 MFRP CANT1 SBF2 COL18A1

More info about this panel
Spain.

Desbuquois Dysplasia , Sequencing CANT1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CANT1 gene.

More info about this panel
Spain.

Larsen Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Larsen Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CHST3 CANT1 IMPAD1 FLNB B3GAT3

More info about this panel
Spain.

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