ACAN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to ACAN gene

Symptoms // Phenotype % Cases
Short stature Common - Between 50% and 80% cases
Proportionate short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

  • Platyspondyly
  • Delayed skeletal maturation
  • Severe short stature
  • Short thumb
  • Lumbar hyperlordosis
  • Hyperlordosis
  • Rarely - Less than 30% cases

  • Relative macrocephaly
  • Mesomelia

And 57 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ACAN gene

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


FAMILIAL OSTEOCHONDRITIS DISSECANS

Alternate names

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature, od, osteochondritis dissecans, short stature, and early-onset osteoarthritis

Description

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

Most common symptoms of FAMILIAL OSTEOCHONDRITIS DISSECANS

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


More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

SOURCES: MESH ORPHANET OMIM

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

Alternate names

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE Is also known as semd, aggrecan type

Description

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

Most common symptoms of SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

  • Short stature
  • Low-set ears
  • Brachydactyly
  • Macrocephaly
  • Short neck


More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

SOURCES: ORPHANET MESH OMIM

SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE

Description

Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.

Most common symptoms of SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE

  • Short stature
  • Delayed skeletal maturation
  • Platyspondyly
  • Genu valgum
  • Micromelia


More info about SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE

SOURCES: ORPHANET OMIM MESH

SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME

Most common symptoms of SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME

  • Brachydactyly
  • Midface retrusion
  • Osteoarthritis
  • Short thumb
  • Developmental stagnation


More info about SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME

SOURCES: ORPHANET


Potential gene panels for ACAN gene

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.

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.

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.

ACAN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACAN 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.

Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: CCN6 LPIN2 TRPV4 ACAN HPGD IL1RN

More info about this panel
Spain.

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