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.
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
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
Search interest in FTO
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 Portugal.
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 United States.
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 Germany.
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 Germany.
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 United States.
FTO Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FTO gene.
More info about this panel United States.
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