ABCC6 gene related symptoms and diseases
All the information presented here about the ABCC6 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 ABCC6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypertension | Very Common - Between 80% and 100% cases |
| Intermittent claudication | Common - Between 50% and 80% cases |
| Premature occlusive vascular stenosis | Common - Between 50% and 80% cases |
| Peau d'orange | Common - Between 50% and 80% cases |
| Medial calcification of large arteries | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ABCC6 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Visual loss
- Reduced visual acuity
- Angioid streaks of the fundus
- Gastrointestinal hemorrhage
- Visual impairment
- Retinal hemorrhage
- Mitral valve prolapse
- Blue sclerae
And 103 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ABCC6 gene
Here you will find a list of rare diseases related to the ABCC6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GENERALIZED ARTERIAL CALCIFICATION OF INFANCY
Alternate names
GENERALIZED ARTERIAL CALCIFICATION OF INFANCY Is also known as idiopathic infantile arterial calcification, infantile arteriosclerosis, occlusive infantile arteriopathy, idiopathic obliterative arteriopathy
Description
Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.
Most common symptoms of GENERALIZED ARTERIAL CALCIFICATION OF INFANCY
- Hypertension
- Congestive heart failure
- Dilatation
- Papule
- Tachycardia
More info about GENERALIZED ARTERIAL CALCIFICATION OF INFANCY
PSEUDOXANTHOMA ELASTICUM
Alternate names
PSEUDOXANTHOMA ELASTICUM Is also known as pxe, gronblad-strandberg-touraine syndrome, gronblad-strandberg syndrome
Description
Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.
Most common symptoms of PSEUDOXANTHOMA ELASTICUM
- Scoliosis
- Growth delay
- High palate
- Visual impairment
- Hypertension
More info about PSEUDOXANTHOMA ELASTICUM
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
Most common symptoms of PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
- Scoliosis
- High palate
- Visual impairment
- Hypertension
- Myopia
More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
SOURCES: OMIM
Search interest in ABCC6
Potential gene panels for ABCC6 gene
NGS Connective Tissue Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2
More info about this panel United States.
ABCC6 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the ABCC6 gene.
More info about this panel United States.
Connective Tissue Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel United States.
Pseudoxanthoma Elasticum Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the ABCC6 gene.
More info about this panel United Kingdom.
ABCC6 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the ABCC6 gene.
More info about this panel Netherlands.
ABCC6. Sequencing of the exons 21,27, 29 and 30 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
ABCC6. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
ABCC6. Detection of the deletion exon 23-29 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
ABCC6. Sequencing of the exons 24 and 28 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
ABCC6. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
ABCC6. NextGeneDx. Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
Pseudoxanthoma elasticum (sequence analysis of exons 24 and 28 of ABCC6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ABCC6 gene.
More info about this panel Portugal.
Pseudoxanthoma elasticum (sequence analysis of ABCC6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ABCC6 gene.
More info about this panel Portugal.
Pseudoxanthoma elasticum (deletion/duplication analysis of ABCC6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ABCC6 gene.
More info about this panel Portugal.
Arterial Calcification of Infancy2 Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the ABCC6 gene.
More info about this panel United Kingdom.
Pseudoxanthoma elasticum Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory Pseudoxanthoma elasticum that also includes the following genes: ENPP1 ABCC6
More info about this panel United Kingdom.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Sequencing Panel with CNV Detection that also includes the following genes: ENPP1 ABCC6
More info about this panel United States.
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum (PEX) via ABCC6 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ABCC6 gene.
More info about this panel United States.
Arterial calcification, generalized, of infancy NGS panel Panel
United States.
By Connective Tissue Gene Tests Arterial calcification, generalized, of infancy NGS panel that also includes the following genes: ENPP1 ABCC6
More info about this panel United States.
Arterial calcification, generalized, of infancy Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Arterial calcification, generalized, of infancy Deletion/ Duplication panel that also includes the following genes: ENPP1 ABCC6
More info about this panel United States.
Arterial calcification, generalized, of infancy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Arterial calcification, generalized, of infancy Comprehensive panel that also includes the following genes: ENPP1 ABCC6
More info about this panel United States.
Pseudoxanthoma elasticum Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Pseudoxanthoma elasticum Deletion / Duplication panel that also includes the following genes: GGCX ABCC6
More info about this panel United States.
Pseudoxanthoma elasticum Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Pseudoxanthoma elasticum Comprehensive panel that also includes the following genes: GGCX ABCC6
More info about this panel United States.
Pseudoxanthoma elasticum NGS panel Panel
United States.
By Connective Tissue Gene Tests Pseudoxanthoma elasticum NGS panel that also includes the following genes: GGCX ABCC6
More info about this panel United States.
Macrocephaly Panel
Germany.
By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Germany.
Vascular and connective tissue diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Teenager Stroke / Stroke-Like Episodes Panel
Germany.
By MGZ Medical Genetics Center Teenager Stroke / Stroke-Like Episodes that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TREX1 TTR SLC2A10 CACNA1C CBS ADA2 COL3A1
More info about this panel Germany.
Cystic Fibrosis and CBAVD Testing Panel
United States.
By FirmaLab
This panel specifically test the ABCC6 gene.
More info about this panel United States.
Pseudoxanthoma elasticum, forme fruste Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ABCC6 gene.
More info about this panel Germany.
Pseudoxanthoma elasticum Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ABCC6 gene.
More info about this panel Germany.
Arterial calcification type 2, generalized, infantile Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ABCC6 gene.
More info about this panel Germany.
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.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel Germany.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel Germany.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Pseudoxanthoma Elasticum (PXE) gene panel Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital Pseudoxanthoma Elasticum (PXE) gene panel that also includes the following genes: ENPP1 GGCX ABCC6
More info about this panel Belgium.
ABCC6 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the ABCC6 gene.
More info about this panel Belgium.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Pseudoxanthoma elasticum: ABCC6 gene sequence analysis and 16.4kb deletion analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
Pseudoxanthoma elasticum: ABCC6 gene deletions-duplicacions (MLPA) analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
Pseudoxanthoma elasticum: ABCC6 gene deletions analysis (16.4Kb 23-29) and sequence analysis (exons 24, 28) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
Connective Tissue NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Connective Tissue NGS Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
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.
ABCC6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCC6 gene.
More info about this panel United States.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
Aorta Panel Panel
Finland.
By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS
More info about this panel Finland.
Ehlers-Danlos Syndrome Panel Panel
Finland.
By Blueprint Genetics Ehlers-Danlos Syndrome Panel that also includes the following genes: BGN TGFB2 TGFBR1 TGFBR2 CBS ATP6V0A2 FKBP14 SLC39A13 DSE ADAMTS2
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
Dilated Cardiomyopathy (DCM) Panel Panel
Finland.
By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panel Finland.
Pseudoxanthoma elasticum Panel
Spain.
By Bioarray
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
PSEUDOXANTHOMA ELASTICUM Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
Pseudoxanthoma Elasticum , Sequencing ABCC6 Gene and Deletion 16.4 Kb Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ABCC6 gene.
More info about this panel Spain.
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel
Spain.
By Reference Laboratory Genetics Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 ADAMTS10 SLC2A10 CBS ACVR1
More info about this panel Spain.
Pseudoxanthoma Elasticum , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Pseudoxanthoma Elasticum , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: VEGFA XYLT1 XYLT2 ENPP1 GGCX ABCC6
More info about this panel Spain.
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel
Spain.
By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C
More info about this panel Spain.
Pseudoxanthoma elasticum Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the ABCC6 gene.
More info about this panel Germany.
Pseudoxanthoma Elasticum: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ABCC6 gene.
More info about this panel Canada.
Pseudoxanthoma Elasticum: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ABCC6 gene.
More info about this panel Canada.
Idiopathic Infantile Arterial Calcification: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Idiopathic Infantile Arterial Calcification: gene sequencing panel that also includes the following genes: ENPP1 ABCC6
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EDARADD F12