FGD1 gene related symptoms and diseases

All the information presented here about the FGD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, 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 FGD1 gene

Symptoms // Phenotype	% Cases
Short stature	Common - Between 50% and 80% cases
Round face	Common - Between 50% and 80% cases
Pes planus	Common - Between 50% and 80% cases
Attention deficit hyperactivity disorder	Common - Between 50% and 80% cases
Cleft upper lip	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with FGD1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Short palm
Short foot
Hypoplasia of the maxilla
Broad palm
Inguinal hernia
Shawl scrotum
Broad foot
Genu recurvatum

And 101 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to FGD1 gene

Here you will find a list of rare diseases related to the FGD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AARSKOG-SCOTT SYNDROME

Alternate names

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome, faciodigitogenital syndrome, faciogenital dysplasia

Description

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

Most common symptoms of AARSKOG-SCOTT SYNDROME

Short stature
Hypertelorism
Strabismus
Cleft palate
Cryptorchidism

More info about AARSKOG-SCOTT SYNDROME

SOURCES: ORPHANET

AARSKOG-SCOTT SYNDROME; AAS

Alternate names

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked, faciodigitogenital syndrome, fgdy, faciogenital dysplasia

Description

Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

Most common symptoms of AARSKOG-SCOTT SYNDROME; AAS

Intellectual disability
Seizures
Global developmental delay
Short stature
Scoliosis

More info about AARSKOG-SCOTT SYNDROME; AAS

SOURCES: OMIM

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Intellectual disability
Seizures
Delayed speech and language development
Atrial septal defect
Autism

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

SOURCES: MESH OMIM

Search interest in FGD1

Potential gene panels for FGD1 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

FGD1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to FGD1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to FGD1 gene

AARSKOG-SCOTT SYNDROME

Alternate names

Description

Most common symptoms of AARSKOG-SCOTT SYNDROME

AARSKOG-SCOTT SYNDROME; AAS

Alternate names

Description

Most common symptoms of AARSKOG-SCOTT SYNDROME; AAS

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Search interest in FGD1

Potential gene panels for FGD1 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

Syndromic Autism Panel Panel

NGS XLID Panel Panel

Aarskog syndrome (FGD1) Panel

Aarskog Syndrome Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

FGD1. Complete sequencing Panel

FGD1. MLPA testing Panel

Aarskog syndrome (deletion/duplication analysis of FGD1 gene) Panel

Aarskog syndrome (sequence analysis of FGD1 gene) Panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Aarskog Syndrome Panel

Aarskog-Scott Syndrome Panel

Aarskog-Scott Syndrome via FGD1 Gene Sequencing with CNV Detection Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Brain Malformations / Neuronal Migration Disorders Panel

Aarskog syndrome Panel

Epileptic syndromes with epilepsy and intellectual disability panel Panel

Mental retardation, X-linked type 16 Panel

Faciogenital dysplasia Panel

AllNeuro panel Panel

Single gene testing FGD1 Panel

FGD1 SEQUENCING AARSKOG SYNDROME Panel

qCarrier Plus Panel

qGenEx Craniofacial Anomalies Panel

Aarskog syndrome: FGD1 gene sequence analysis Panel

Mental retardation, X-linked, non-syndromic Panel

Aarskog-Scott Syndrome: FGD1 Full Gene Sequencing Panel

Aarskog-Scott Syndrome: FGD1 Gene Deletion/Duplication Panel

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

Autism Spectrum Disorders: Tier 2 Panel Panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

Autism NGS Panel Panel

Epilepsy NGS Panel Panel

Intellectual Disability NGS Panel Panel

Short Stature NGS Panel Panel

XLID NGS Panel Panel

FGD1 Panel

Idiopathic Generalized Epilepsy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

Comprehensive Short Stature Syndrome Panel Panel

X-linked Intellectual Disability Panel Panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Aarskog-Scott syndrome Panel

Rapid microarray (CGH and SNP) Panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

AARSKOG SYNDROME (FACIODIGITOGENITAL SYNDROME OR FACIOGENITAL DYSPLASIA) Panel

Aarskog Syndrome, Sequencing FGD1 Gene Panel