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
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
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
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
Search interest in ACAN
Potential gene panels for ACAN gene
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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 panelSpondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel
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 panelSpondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel
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 panelSpondylo-Epi-Metaphyseal dysplasias NGS panel Panel
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 panelDisproportionate Short Stature: Sequencing Panel Panel
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 panelACAN Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACAN gene.
More info about this panelSpondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel Panel
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 panelSkeletal Dysplasias Core Panel Panel
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 panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
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 panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelRheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes Panel
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
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