AFF4 gene related symptoms and diseases

All the information presented here about the AFF4 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 AFF4 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal vertebral morphology Very Common - Between 80% and 100% cases
Thick eyebrow Very Common - Between 80% and 100% cases
Downturned corners of mouth Very Common - Between 80% and 100% cases
Vesicoureteral reflux Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AFF4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Round face
  • Abnormal lung morphology
  • Long eyelashes
  • Aspiration
  • Coarse facial features
  • Horseshoe kidney
  • Laryngomalacia
  • Aspiration pneumonia

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AFF4 gene

Here you will find a list of rare diseases related to the AFF4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME


Alternate names

COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome, cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Most common symptoms of COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for AFF4 gene

Monogenic Obesity Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Monogenic Obesity Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8

More info about this panel

Cornelia de Lange PLUS Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cornelia de Lange PLUS Deletion/Duplication Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8

More info about this panel

Monogenic Obesity Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8

More info about this panel

Cornelia de Lange Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21

More info about this panel

CHOPS Syndrome via AFF4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AFF4 gene.

More info about this panel

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Cornelia de Lange syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cornelia de Lange syndrome Comprehensive panel that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21

More info about this panel

Cornelia de Lange syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cornelia de Lange syndrome Deletion / Duplication panel that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21

More info about this panel

Cornelia de Lange syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Cornelia de Lange syndrome NGS panel that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Cornelia de Lange Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cornelia de Lange Syndrome that also includes the following genes: SMC1A TAF6 HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21

More info about this panel

Invitae CHOPS Syndrome Test Panel

United States.

By Invitae

This panel specifically test the AFF4 gene.

More info about this panel

AFF4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AFF4 gene.

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel


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