KLF1 gene related symptoms and diseases

All the information presented here about the KLF1 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 KLF1 gene

Symptoms // Phenotype % Cases
Anemia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Hydrops fetalis Rare - less than 30% cases
Erythroid hyperplasia Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with KLF1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Congenital hypoplastic anemia
  • Normochromic anemia
  • Fetal distress
  • Anemia of inadequate production
  • Reticulocytosis
  • Hyperbilirubinemia
  • Wide anterior fontanel
  • Micropenis

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KLF1 gene

Here you will find a list of rare diseases related to the KLF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME


Alternate names

HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME Is also known as hpfh-beta-thalassemia syndrome

Description

Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.

Most common symptoms of HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Pallor
  • Persistence of hemoglobin F


More info about HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME

SOURCES: ORPHANET

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV


Alternate names

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv, cda type 4, congenital dyserythropoietic anemia due to klf1 mutation, cda iv, cdan4, congenital dyserythropoietic anemia type 4, cda type iv, cda due to klf1 mutation

Description

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

Most common symptoms of CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

SOURCES: OMIM ORPHANET

BLOOD GROUP--LUTHERAN INHIBITOR; INLU


Alternate names

BLOOD GROUP--LUTHERAN INHIBITOR; INLU Is also known as dominant lu (a-b-) phenotype

Description

The Lutheran inhibitor blood group phenotype (In(Lu)) is characterized phenotypically by the apparent absence of the Lu antigen (BCAM ) on red blood cells during serologic tests, i.e., Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, Singleton et al. (2008) found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene.The Lu-null phenotype, or autosomal recessive true Lu(a-b-) (OMIM ), is caused by homozygous or compound heterozygous inactivating mutations in the BCAM gene.

Most common symptoms of BLOOD GROUP--LUTHERAN INHIBITOR; INLU

  • Absence of Lutheran antigen on erythrocytes


More info about BLOOD GROUP--LUTHERAN INHIBITOR; INLU

SOURCES: OMIM

FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6; HBFQTL6


Alternate names

FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6; HBFQTL6 Is also known as hereditary persistence of fetal hemoglobin, klf1-related


More info about FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6; HBFQTL6

SOURCES: OMIM

HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-SICKLE CELL DISEASE SYNDROME


Alternate names

HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-SICKLE CELL DISEASE SYNDROME Is also known as hpfh-sickle cell disease syndrome

Description

A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis.


More info about HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-SICKLE CELL DISEASE SYNDROME

SOURCES: ORPHANET


Potential gene panels for KLF1 gene

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel

Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel

United States.

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 panel

Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: SEC23B LPIN2 CDAN1 C15orf41 ALAS2 GATA1 KLF1 KIF23

More info about this panel

KLF1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the KLF1 gene.

More info about this panel

KLF1 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the KLF1 gene.

More info about this panel

Congenital Dyserythropoietic Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Dyserythropoietic Anemia Deletion/Duplication Panel that also includes the following genes: SEC23B LPIN2 CDAN1 C15orf41 GATA1 KLF1 KIF23

More info about this panel

Hemolytic Anemia Deletion/Duplication Panel Panel

United States.

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 panel

Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1

More info about this panel

Congenital Dyserythropoietic Anemia Type IV via KLF1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KLF1 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Erythrocytes, Anemia Panel Panel

Germany.

By CeGaT GmbH Erythrocytes, Anemia Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7 SEC23B

More info about this panel

NGS Panel for Congenital Dyserythropoietic Anemia Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital Dyserythropoietic Anemia that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1 KIF23

More info about this panel

Congenital Dyserythropoietic Anemia Panel

United States.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine Congenital Dyserythropoietic Anemia that also includes the following genes: SEC23B CDAN1 KLF1

More info about this panel

Dyserythropoietic anemia, congenital Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Dyserythropoietic anemia, congenital that also includes the following genes: SEC23B CDAN1 C15orf41 KLF1

More info about this panel

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel

United States.

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 panel

KLF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KLF1 gene.

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

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 panel

Anemia Panel Panel

Finland.

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 panel

ACONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE 4 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the KLF1 gene.

More info about this panel

CONGENITAL DYSERYTHROPOIETIC ANEMIA, NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL DYSERYTHROPOIETIC ANEMIA, NGS PANEL that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1 KIF23

More info about this panel

Congenital Dyserythropoietic Anemia , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Dyserythropoietic Anemia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: SEC23B CDAN1 GATA1 KLF1

More info about this panel


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