ARSE gene related symptoms and diseases
All the information presented here about the ARSE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ARSE gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Autoimmunity | Uncommon - Between 30% and 50% cases |
| Short nasal septum | Uncommon - Between 30% and 50% cases |
| Vitamin K deficiency | Uncommon - Between 30% and 50% cases |
| Epiphyseal stippling | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ARSE gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of the vertebral column
- Systemic lupus erythematosus
- Anosmia
- Short phalanx of finger
- Short distal phalanx of finger
- Ichthyosis
- Hypogonadism
- Seizures
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARSE gene
Here you will find a list of rare diseases related to the ARSE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA
Alternate names
BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA Is also known as bcdp, brachytelephalangic chondrodysplasia punctata
Description
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.
More info about BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
Alternate names
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic, cpxr
Most common symptoms of CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
SOURCES: OMIM
Search interest in ARSE
Potential gene panels for ARSE gene
ARSE sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the ARSE gene.
More info about this panel United States.
ARSE deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the ARSE gene.
More info about this panel United States.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
ARSE Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the ARSE gene.
More info about this panel United States.
ARSE. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ARSE gene.
More info about this panel Spain.
Chondrodysplasia punctata, brachytelephalangic, X-linked (sequence analysis of ARSE gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ARSE gene.
More info about this panel Portugal.
Skeletal dysplasia (NGS panel for 31 genes) Panel
Portugal.
By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1
More info about this panel Portugal.
Chondrodysplasia Punctata 1, X-Linked Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the ARSE gene.
More info about this panel United Kingdom.
X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panel United States.
Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1) via ARSE Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ARSE gene.
More info about this panel United States.
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.
Chondrodysplasia punctata and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders Deletion / Duplication panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5
More info about this panel United States.
Chondrodysplasia punctata and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders Comprehensive panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5
More info about this panel United States.
Chondrodysplasia punctata and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders NGS panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5
More info about this panel United States.
Skeletal dysplasia extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended NGS panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Skeletal dysplasia core & extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended Comprehensive panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Skeletal dysplasia core & extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia core & extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended Deletion / Duplication panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Chondrodysplasia punctata, X-linked recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ARSE gene.
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.
Chondrodysplasia punctata Panel Panel
Germany.
By CeGaT GmbH Chondrodysplasia punctata Panel that also includes the following genes: NSDHL EBP AGPS GNPAT LBR ARSE PEX7
More info about this panel Germany.
Chondrodysplasia punctata Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ARSE gene.
More info about this panel Austria.
Chondrodysplasia punctata Panel
Slovakia.
By MedGene
This panel specifically test the ARSE gene.
More info about this panel Slovakia.
Invitae ARSE-Related Chondrodysplasia Punctata Test Panel
United States.
By Invitae
This panel specifically test the ARSE gene.
More info about this panel United States.
Chondrodysplasia punctata 1, X-linked recessive: ARSE gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ARSE gene.
More info about this panel Spain.
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 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.
ARSE Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARSE gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Chondrodysplasia Punctata Panel Panel
Finland.
By Blueprint Genetics Chondrodysplasia Punctata Panel that also includes the following genes: NSDHL EBP AGPS GNPAT LBR ARSE PEX14 PEX7 PEX19
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.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ARSE gene.
More info about this panel Spain.
Brachytelephalangic Chondrodysplasia Punctata , Sequencing ARSE Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ARSE gene.
More info about this panel Spain.
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 Spain.
Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: IMPAD1 EBP AGPS GNPAT LBR ARSE PEX7
More info about this panel Spain.
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