AK2 gene related symptoms and diseases

All the information presented here about the AK2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AK2 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Chronic otitis media Very Common - Between 80% and 100% cases
Congenital agranulocytosis Very Common - Between 80% and 100% cases
Agranulocytosis Very Common - Between 80% and 100% cases
Aplasia/Hypoplasia of the thymus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AK2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Aplasia of the thymus
  • Abnormality of the thymus
  • Granulocytopenia
  • Impaired T cell function
  • Abnormality of neutrophils
  • Cellular immunodeficiency
  • Hypoplasia of the thymus
  • Severe combined immunodeficiency

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AK2 gene

Here you will find a list of rare diseases related to the AK2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RETICULAR DYSGENESIS


Alternate names

RETICULAR DYSGENESIS Is also known as congenital aleukia, scid with leukopenia, de vaal disease, hematopoietic hypoplasia, generalized, reticular dysgenesia, congenital aleukocytosis, severe combined immunodeficiency with leukopenia, ak2 deficiency, aleukocytosis, generalized hematopoietic hypoplasia

Description

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

Most common symptoms of RETICULAR DYSGENESIS

  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea


More info about RETICULAR DYSGENESIS

SOURCES: ORPHANET OMIM


Potential gene panels for AK2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

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 panel

AK2 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 AK2 gene.

More info about this panel

AK2 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 AK2 gene.

More info about this panel

AK2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the AK2 gene.

More info about this panel

Reticular dysgenesis (sequence analysis of AK2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AK2 gene.

More info about this panel

Severe combined immunodeficiency (SCID) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Severe combined immunodeficiency (SCID) panel that also includes the following genes: STAT5B STIM1 TBX1 CD40 CD40LG ZAP70 CD3D CD3E CD3G CD8A

More info about this panel

Comprehensive SCID panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

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 panel

Reticular dysgenesis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AK2 gene.

More info about this panel

B-negative SCID panel Panel

Germany.

By Centogene AG - the Rare Disease Company B-negative SCID panel that also includes the following genes: DCLRE1C ADA NHEJ1 AK2 LIG4 RAC2 RAG1 RAG2

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

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 panel

Combined immunodeficiencies Panel Panel

Germany.

By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40

More info about this panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel Panel

United States.

By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: ZAP70 CD3D CD3E CD247 DCLRE1C ADA CORO1A NHEJ1 AK2 IL2RG

More info about this panel

Invitae T-B-NK- Severe Combined Immunodeficiency (SCID) Panel Panel

United States.

By Invitae Invitae T-B-NK- Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: ADA AK2

More info about this panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3D CD3E CD3G

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

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 panel

AK2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AK2 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Dyskeratosis Congenita Panel Panel

Finland.

By Blueprint Genetics Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 DCLRE1B WRAP53 USB1 CTC1

More info about this panel

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

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

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Reticular dysgenesis Panel

Spain.

By Bioarray

This panel specifically test the AK2 gene.

More info about this panel

SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL that also includes the following genes: STAT1 STIM1 FOXN1 ZAP70 CARD11 CD3D CD3E CD247 DCLRE1C ADA

More info about this panel

Reticular Dysgenesis , Sequencing AK2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AK2 gene.

More info about this panel

Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2 Panel

Spain.

By Reference Laboratory Genetics Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2 that also includes the following genes: SRY DHH AK2 NR5A1

More info about this panel

Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: STAT5B STIM1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA NHEJ1 ORAI1

More info about this panel


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