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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM

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


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

ABCC6 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ABCC6 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

Pseudoxanthoma elasticum (sequence analysis of ABCC6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCC6 gene.

More info about this panel

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

Arterial Calcification of Infancy2 Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the ABCC6 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Cystic Fibrosis and CBAVD Testing Panel

United States.

By FirmaLab

This panel specifically test the ABCC6 gene.

More info about this panel

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

Pseudoxanthoma elasticum Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCC6 gene.

More info about this panel

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

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

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

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

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

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

ABCC6 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the ABCC6 gene.

More info about this panel

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

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

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

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

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

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

ABCC6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCC6 gene.

More info about this panel

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

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

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

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

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

Pseudoxanthoma elasticum Panel

Spain.

By Bioarray

This panel specifically test the ABCC6 gene.

More info about this panel

PSEUDOXANTHOMA ELASTICUM Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ABCC6 gene.

More info about this panel

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

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

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

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

Pseudoxanthoma elasticum Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the ABCC6 gene.

More info about this panel

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

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

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


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