HK1 gene related symptoms and diseases
All the information presented here about the HK1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HK1 gene
Symptoms // Phenotype | % Cases |
---|---|
Anemia | Common - Between 50% and 80% cases |
Scoliosis | Uncommon - Between 30% and 50% cases |
Visual loss | Uncommon - Between 30% and 50% cases |
Cholelithiasis | Uncommon - Between 30% and 50% cases |
Prolonged neonatal jaundice | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HK1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Reticulocytosis
- Nonspherocytic hemolytic anemia
- Cholecystitis
- Normocytic anemia
- Normochromic anemia
- Chronic hemolytic anemia
- Cognitive impairment
- Blindness
And 42 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HK1 gene
Here you will find a list of rare diseases related to the HK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHARCOT-MARIE-TOOTH DISEASE TYPE 4G
Alternate names
CHARCOT-MARIE-TOOTH DISEASE TYPE 4G Is also known as hereditary motor and sensory neuropathy, russe type, cmt4g, hmsnr, charcot-marie-tooth disease, type 4g, charcot-marie-tooth neuropathy, type 4g, charcot-marie-tooth disease, autosomal recessive, type 4g
Description
Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.
Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 4G
- Scoliosis
- Peripheral neuropathy
- Skeletal muscle atrophy
- Areflexia
- Hyporeflexia
More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4G
NON-SPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY
Description
Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.
Most common symptoms of NON-SPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY
- Anemia
- Fatigue
- Splenomegaly
- Abnormality of metabolism/homeostasis
- Jaundice
More info about NON-SPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY
RETINITIS PIGMENTOSA 79; RP79
Most common symptoms of RETINITIS PIGMENTOSA 79; RP79
- Cognitive impairment
- Anemia
- Blindness
- Visual loss
- Rod-cone dystrophy
More info about RETINITIS PIGMENTOSA 79; RP79
SOURCES: OMIM
Search interest in HK1
Potential gene panels for HK1 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 panelRetinitis Pigmentosa Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelRed Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panelHemolytic Anemia Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8
More info about this panelHK1 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the HK1 gene.
More info about this panelHK1 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the HK1 gene.
More info about this panelHemolytic Anemia Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2
More info about this panelRed Blood Cell Enzymopathies Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Enzymopathies Deletion/Duplication Panel that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panelHK1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the HK1 gene.
More info about this panelHereditary Hemolytic Anemia Panel, Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemolytic Anemia Panel, Sequencing that also includes the following genes: SLCO1B1 SLCO1B3 SPTA1 SPTB TPI1 UGT1A1 UGT1A6 UGT1A7 NT5C3A ADA
More info about this panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panelHK1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HK1 gene.
More info about this panelCharcot-Marie-Tooth disease type 4G (CMT4G, sequence analysis of HK1 gene) Panel
By CGC Genetics
This panel specifically test the HK1 gene.
More info about this panelRBC Enzymopathies (NGS panel of 14 genes) Panel
By CGC Genetics RBC Enzymopathies (NGS panel of 14 genes) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panelHereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK
More info about this panelCharcot-Marie-Tooth disease (NGS panel for 43 genes) Panel
By CGC Genetics Charcot-Marie-Tooth disease (NGS panel for 43 genes) that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 KIF1B LITAF FIG4 MFN2 TRPV4
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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 panelNeuropathy Panel
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
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 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 panelRetinitis pigmentosa, autosomal dominant and X-linked Panel Panel
By CeGaT GmbH Retinitis pigmentosa, autosomal dominant and X-linked Panel that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A SPP2 BEST1
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 panelCharcot-Marie-Tooth and Sensory Neuropathies Panel Panel
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panelCharcot-Marie-Tooth Disease Panel
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panelNGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel
By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8
More info about this panelRetinal Dystrophy Panel Panel
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 panelMVL Vision Panel Panel
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelCHARCOT- MARIE TOOTH Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CHARCOT- MARIE TOOTH that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelHereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59
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 panelHK1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HK1 gene.
More info about this panelRetinal Dystrophy Panel Panel
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panelCharcot-Marie-Tooth Neuropathy Panel Panel
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panelRetinitis Pigmentosa Panel Panel
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panelHemolytic anemia due to hexokinase deficiency Panel
By Bioarray
This panel specifically test the HK1 gene.
More info about this panelCHARCOT-MARIE-TOOTH : NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CHARCOT-MARIE-TOOTH : NGS PANEL that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelHemolytic Anemia due to Hexokinase Deficiency , Sequencing HK1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the HK1 gene.
More info about this panelCharcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelCharcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes Panel
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SURF1 PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 EGR2 HK1 MTMR2
More info about this panelNonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel that also includes the following genes: RHO ROM1 RP1 RP9 RPE65 SEMA4A SPP2 BEST1 CA4 PRPF31
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