CTCF gene related symptoms and diseases

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

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Global developmental delay	Very Common - Between 80% and 100% cases
Short stature	Very Common - Between 80% and 100% cases
Generalized hypotonia	Very Common - Between 80% and 100% cases
Microcephaly	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
Strabismus
Cleft palate
Cryptorchidism
Feeding difficulties
Atrial septal defect
Abnormality of the dentition
Patent ductus arteriosus
Autistic behavior

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CTCF gene

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

INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Description

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Most common symptoms of INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Intellectual disability
Global developmental delay
Short stature
Generalized hypotonia
Microcephaly

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

SOURCES: ORPHANET OMIM

Search interest in CTCF

Potential gene panels for CTCF gene

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

CTCF gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CTCF gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to CTCF gene

INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Description

Most common symptoms of INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Search interest in CTCF

Potential gene panels for CTCF gene

Non-Specific Intellectual Disability Panel Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

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

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

CTCF Panel

FoundationOne® Heme Panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

Providence Personalized Medicine Panel - Solid Tumor Panel

Tempus xT assay Panel

Tempus xO assay Panel