FTO gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to FTO gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Dandy-Walker malformation Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FTO gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Wide mouth
  • Severe global developmental delay
  • Thin vermilion border
  • Macroglossia
  • Bifid uvula
  • Delayed myelination
  • Ventricular hypertrophy
  • Patent ductus arteriosus

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FTO gene

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


LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Description

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Most common symptoms of LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

SOURCES: MESH ORPHANET OMIM

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14


Alternate names

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14 Is also known as obesity, susceptibility to


More info about BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14

SOURCES: OMIM


Potential gene panels for FTO gene

Obesity genetic testing Panel

Portugal.

By CGC Genetics Obesity genetic testing that also includes the following genes: APOA5 INSIG2 FTO GNB3 MC4R

More info about this panel

FTO-Deficiency Syndrome via FTO Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FTO gene.

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

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

FTO Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FTO gene.

More info about this panel


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