SLC6A9 gene related symptoms and diseases
All the information presented here about the SLC6A9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC6A9 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Trigonocephaly | Uncommon - Between 30% and 50% cases |
| Dolichocephaly | Uncommon - Between 30% and 50% cases |
| Arthrogryposis multiplex congenita | Uncommon - Between 30% and 50% cases |
| Abnormality of the foot | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC6A9 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Esotropia
- Hip dysplasia
- Long eyelashes
- Clonus
- Elbow flexion contracture
- Deep philtrum
- Sparse eyebrow
- Broad forehead
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC6A9 gene
Here you will find a list of rare diseases related to the SLC6A9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
Description
Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).
Most common symptoms of GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Failure to thrive
- Abnormal facial shape
More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
SOURCES: OMIM
INFANTILE GLYCINE ENCEPHALOPATHY
Alternate names
INFANTILE GLYCINE ENCEPHALOPATHY Is also known as infantile non-ketotic hyperglycinemia, infantile nkh
Description
Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.
More info about INFANTILE GLYCINE ENCEPHALOPATHY
SOURCES: ORPHANET
ATYPICAL GLYCINE ENCEPHALOPATHY
Alternate names
ATYPICAL GLYCINE ENCEPHALOPATHY Is also known as atypical non-ketotic hyperglycinemia, atypical nka
Description
Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.
More info about ATYPICAL GLYCINE ENCEPHALOPATHY
SOURCES: ORPHANET
Search interest in SLC6A9
Potential gene panels for SLC6A9 gene
Glycine transporter 1 deficiency (SLC6A9) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the SLC6A9 gene.
More info about this panel Netherlands.
Invitae Glycine Encephalopathy Panel Panel
United States.
By Invitae Invitae Glycine Encephalopathy Panel that also includes the following genes: SLC6A9 NFU1 LIAS GCSH GLDC AMT
More info about this panel United States.
Invitae Elevated Glycine Panel Panel
United States.
By Invitae Invitae Elevated Glycine Panel that also includes the following genes: SLC6A9 NFU1 LIAS GCSH GLDC AMT
More info about this panel United States.
SLC6A9 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC6A9 gene.
More info about this panel United States.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Panel
Finland.
By Blueprint Genetics Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel that also includes the following genes: SLC6A9 NFU1 LIAS GLRX5 BOLA3 LIPT1 GCSH GLDC AMT
More info about this panel Finland.
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