ABCB7 gene related symptoms and diseases
All the information presented here about the ABCB7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ABCB7 gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Very Common - Between 80% and 100% cases |
Abnormality of movement | Very Common - Between 80% and 100% cases |
Sideroblastic anemia | Very Common - Between 80% and 100% cases |
Hypochromic microcytic anemia | Very Common - Between 80% and 100% cases |
Hyperactive deep tendon reflexes | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ABCB7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Microcytic anemia
- Dysdiadochokinesis
- Incoordination
- Clonus
- Intention tremor
- Dysmetria
- Neurological speech impairment
- Scoliosis
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ABCB7 gene
Here you will find a list of rare diseases related to the ABCB7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA
Alternate names
X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA Is also known as x-linked sideroblastic anemia with ataxia, xlsa-a, pagon-bird-detter syndrome
Description
X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
Most common symptoms of X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA
- Global developmental delay
- Scoliosis
- Ataxia
- Nystagmus
- Strabismus
More info about X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA
Search interest in ABCB7
Potential gene panels for ABCB7 gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelMitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelHereditary ataxias (NGS panel for 44 genes) Panel
By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12
More info about this panelMitochondrial Ataxia Panel
By MGZ Medical Genetics Center Mitochondrial Ataxia that also includes the following genes: SPG7 APTX COQ8A TACO1 MARS2 MTPAP C12orf65 AFG3L2 ABCB7 POLG
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelAtaxia Panel
By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3
More info about this panelMitochondrial Diseases Panel
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panelComprehensive mitochondrial disorders panel Panel
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panelAnemia, sideroblastic, with ataxia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ABCB7 gene.
More info about this panelAllNeuro panel Panel
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 panelCongenital sideroblastic anemia panel Panel
By Centogene AG - the Rare Disease Company Congenital sideroblastic anemia panel that also includes the following genes: SLC19A2 PUS1 TRNT1 GLRX5 YARS2 SLC25A38 ALAS2 ABCB7
More info about this panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelAtaxia, autosomal recessive and X-linked Panel Panel
By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14
More info about this panelMitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panelSpinocerebellar Ataxia Panel
By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX
More info about this panelHereditary Sideroblastic Anemia Panel
By Asper Biogene Asper Biogene LLC Hereditary Sideroblastic Anemia that also includes the following genes: SLC19A2 PUS1 TRNT1 GLRX5 YARS2 SLC25A38 ALAS2 ABCB7 HSPA9
More info about this panelNGS Panel for Congenital and Acquired Sideroblastic Anemia Panel
By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital and Acquired Sideroblastic Anemia that also includes the following genes: SF3B1 SLC19A2 PUS1 LARS2 TRNT1 GLRX5 NDUFB11 YARS2 STEAP3 SLC25A38
More info about this panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelABCB7 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCB7 gene.
More info about this panelX-chromosome High Resolution microarray analysis Panel
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 panelAtaxia Panel Panel
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panelComprehensive Hematology Panel Panel
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panelAnemia Panel Panel
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panelSPINOCEREBELLAR ATAXIA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX
More info about this panelSideroblastic Anemia , Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Sideroblastic Anemia , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: PUS1 GLRX5 YARS2 SLC25A38 ALAS2 ABCB7
More info about this panelSideroblastic Anemia and Ataxia: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ABCB7 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ABCA3 FBN2 CPA1 EGFR NEXMIF GNE BICRA