SIM1 gene related symptoms and diseases
All the information presented here about the SIM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SIM1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Polyphagia | Common - Between 50% and 80% cases |
| Obesity | Common - Between 50% and 80% cases |
| Muscular hypotonia | Uncommon - Between 30% and 50% cases |
| Autistic behavior | Uncommon - Between 30% and 50% cases |
| Short stature | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SIM1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Global developmental delay
Rarely - Less than 30% cases
- Full cheeks
- Brachycephaly
- Autism
- Macrotia
- EEG abnormality
- Prominent nasal bridge
- Bulbous nose
And 50 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SIM1 gene
Here you will find a list of rare diseases related to the SIM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OBESITY
Description
excessively high accumulation of body fat or adipose tissue in relation to lean body mass; the amount of body fat (or adiposity) includes concern for both the distribution of fat throughout the body and the size of the adipose tissue deposits; individuals are usually at high clinical risk because of excess amount of body fat (BMI greater than 30).
Most common symptoms of OBESITY
- Hypertension
- Obesity
- Hypogonadism
- Diabetes mellitus
- Weight loss
More info about OBESITY
SOURCES: OMIM
6Q16 DELETION SYNDROME
Alternate names
6Q16 DELETION SYNDROME Is also known as del(6)(q16), prader-willi-like syndrome due to deletion 6q16, monosomy 6q16
Description
Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.
Most common symptoms of 6Q16 DELETION SYNDROME
- Global developmental delay
- Short stature
- Microcephaly
- Hypertelorism
- Nystagmus
More info about 6Q16 DELETION SYNDROME
SOURCES: ORPHANET
OBESITY DUE TO SIM1 DEFICIENCY
Most common symptoms of OBESITY DUE TO SIM1 DEFICIENCY
- Global developmental delay
- Short stature
- Muscular hypotonia
- Cognitive impairment
- Feeding difficulties
More info about OBESITY DUE TO SIM1 DEFICIENCY
SOURCES: ORPHANET
PRADER-WILLI-LIKE SYNDROME DUE TO A POINT MUTATION
Alternate names
PRADER-WILLI-LIKE SYNDROME DUE TO A POINT MUTATION Is also known as pws-like due to a point mutation
More info about PRADER-WILLI-LIKE SYNDROME DUE TO A POINT MUTATION
SOURCES: ORPHANET
Search interest in SIM1
Potential gene panels for SIM1 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
More info about this panel United States.
Monogenic Obesity Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8
More info about this panel United States.
SIM1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SIM1 gene.
More info about this panel Spain.
Obesity (sequence analysis of SIM1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SIM1 gene.
More info about this panel Portugal.
Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection that also includes the following genes: SIM1 UCP3 KSR2 SH2B1 LEP LEPR MC4R NR0B2 NTRK2 PCSK1
More info about this panel United States.
Monogenic Obesity via SIM1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SIM1 gene.
More info about this panel United States.
Comprehensive Monogenic Obesity Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6
More info about this panel United States.
Obesity, severe, susceptibility to, Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SIM1 gene.
More info about this panel Austria.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
Obesity, severe, susceptibility to, Panel
Slovakia.
By MedGene
This panel specifically test the SIM1 gene.
More info about this panel Slovakia.
Congenital Obesity: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Obesity: Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 ARL6 TRIM32 PHF6 BBS7 TTC8 VPS13B BBS10 BBS12
More info about this panel United States.
Diabetes-Obesity NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL
More info about this panel United States.
SIM1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SIM1 gene.
More info about this panel United States.
Monogenic Obesity Panel Panel
Finland.
By Blueprint Genetics Monogenic Obesity Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 PHF6 KSR2 BBS7 TTC8 VPS13B
More info about this panel Finland.
Obesity, mild, early-onset Panel
Spain.
By Bioarray
This panel specifically test the SIM1 gene.
More info about this panel Spain.
Severe Obesity (Susceptibility to) , Sequencing SIM1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SIM1 gene.
More info about this panel Spain.
Severe Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes Panel
Spain.
By Reference Laboratory Genetics Severe Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: SDC3 SIM1 UCP1 UCP3 GHRL CARTPT ADRB3 PPARGC1B AGRP ENPP1
More info about this panel Spain.
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