ANK1 gene related symptoms and diseases

All the information presented here about the ANK1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ANK1 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases
Hemolytic anemia Very Common - Between 80% and 100% cases
Spherocytosis Very Common - Between 80% and 100% cases
Iris coloboma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ANK1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Feeding difficulties
  • Depressed nasal bridge
  • Epicanthus
  • Talipes equinovarus
  • Atrial septal defect
  • Patent ductus arteriosus
  • Upslanted palpebral fissure
  • Hypogonadism

And 39 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to ANK1 gene

Here you will find a list of rare diseases related to the ANK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY SPHEROCYTOSIS


Alternate names

HEREDITARY SPHEROCYTOSIS Is also known as sph, hs, minkowski-chauffard disease, hs1, spherocytosis, hereditary, 1

Description

Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

Most common symptoms of HEREDITARY SPHEROCYTOSIS

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


More info about HEREDITARY SPHEROCYTOSIS

SOURCES: ORPHANET OMIM

8P11.2 DELETION SYNDROME


Alternate names

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2), monosomy 8p11.2

Description

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

Most common symptoms of 8P11.2 DELETION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about 8P11.2 DELETION SYNDROME

SOURCES: ORPHANET


Potential gene panels for ANK1 gene

Red Blood Cell Membrane Disorders 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 Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ATP11C ABCG5 ABCG8 COL4A1 PIEZO1

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

ANK1 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 ANK1 gene.

More info about this panel

ANK1 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 ANK1 gene.

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

Red Blood Cell Membrane Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Membrane Disorders Deletion/Duplication Panel that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ABCG5 ABCG8 PIEZO1 EPB41 EPB42

More info about this panel

Hereditary Hemolytic Anemia Panel, Sequencing Panel

United States.

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 panel

ANK1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ANK1 gene.

More info about this panel

Hereditary spherocytosis (sequence analysis of ANK1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ANK1 gene.

More info about this panel

Hereditary spherocytosis (NGS panel for 5 genes) Panel

Portugal.

By CGC Genetics Hereditary spherocytosis (NGS panel for 5 genes) that also includes the following genes: SPTA1 SPTB EPB42 ANK1

More info about this panel

Hereditary spherocytosis (NGS panel for 5 genes) Panel

Portugal.

By CGC Genetics Hereditary spherocytosis (NGS panel for 5 genes) that also includes the following genes: SPTA1 SPTB EPB42 ANK1

More info about this panel

Spherocytosis/Elliptocytosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Spherocytosis/Elliptocytosis Sequencing Panel with CNV Detection that also includes the following genes: SPTA1 SPTB EPB41 EPB42 ANK1

More info about this panel

Hereditary Spherocytosis Type 1 via ANK1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ANK1 gene.

More info about this panel

Erythrocyte membrane disorder panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Erythrocyte membrane disorder panel that also includes the following genes: RHAG SPTA1 SPTB EPB41 EPB42 ANK1

More info about this panel

Spherocytosis panel Panel

Germany.

By Centogene AG - the Rare Disease Company Spherocytosis panel that also includes the following genes: SPTA1 SPTB EPB42 ANK1

More info about this panel

Spherocytosis type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ANK1 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

Spherocytosis, Type 1 (ANK1) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the ANK1 gene.

More info about this panel

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel

Spain.

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 panel

Hereditary Spherocytosis Panel

United States.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine Hereditary Spherocytosis that also includes the following genes: SPTA1 SPTB ANK1

More info about this panel

Spherocytosis, Hereditary: ANK1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ANK1 gene.

More info about this panel

SPHEROCYTOSIS Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SPHEROCYTOSIS that also includes the following genes: SPTA1 SPTB EPB42 ANK1

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

Hereditary Spherocytosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Spherocytosis NGS Panel that also includes the following genes: SPTA1 SPTB EPB42 ANK1

More info about this panel

ANK1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ANK1 gene.

More info about this panel

Red Blood Cell Membrane Disorder Panel Panel

Finland.

By Blueprint Genetics Red Blood Cell Membrane Disorder Panel that also includes the following genes: RHAG SPTA1 SPTB EPB41 EPB42 ANK1

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

Hereditary spherocytosis type 1 Panel

Spain.

By Bioarray

This panel specifically test the ANK1 gene.

More info about this panel

Hereditary Spherocytosis (AD and AR) NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hereditary Spherocytosis (AD and AR) NGS and Deletion/Duplication Panel that also includes the following genes: SPTA1 SPTB EPB42 ANK1

More info about this panel

Hereditary Spherocytosis autosomal dominant only NGS and Deletion/Duplication panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hereditary Spherocytosis autosomal dominant only NGS and Deletion/Duplication panel that also includes the following genes: SPTB ANK1

More info about this panel

ANK1 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the ANK1 gene.

More info about this panel

HEREDITARY SPHEROCYTOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL HEREDITARY SPHEROCYTOSIS that also includes the following genes: SPTA1 SPTB EPB42 ANK1

More info about this panel

HEREDITARY SPHEROCYTOSIS: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HEREDITARY SPHEROCYTOSIS: NGS PANEL that also includes the following genes: SPTA1 SPTB EPB42 ANK1

More info about this panel

Hereditary Spherocytosis Type 1, Sequencing ANK1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ANK1 gene.

More info about this panel

Hereditary Spherocytosis , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Spherocytosis , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SPTA1 SPTB EPB42 ANK1

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MEOX1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more