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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in AFF4

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

AFF4 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to AFF4 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to AFF4 gene

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

Alternate names

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

Search interest in AFF4

Potential gene panels for AFF4 gene

Monogenic Obesity Sequencing Panel Panel

Cornelia de Lange PLUS Deletion/Duplication Panel Panel

Monogenic Obesity Deletion/Duplication Panel Panel

Cornelia de Lange Syndrome Sequencing Panel with CNV Detection Panel

CHOPS Syndrome via AFF4 Gene Sequencing with CNV Detection Panel

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

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Cornelia de Lange syndrome Comprehensive panel Panel

Cornelia de Lange syndrome Deletion / Duplication panel Panel

Cornelia de Lange syndrome NGS panel Panel

Mental retardation - different panels Panel

Cornelia de Lange Syndrome Panel

Invitae CHOPS Syndrome Test Panel

AFF4 Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel