POLA1 gene related symptoms and diseases
All the information presented here about the POLA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to POLA1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Visual impairment | Common - Between 50% and 80% cases |
| Dystonia | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with POLA1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dysarthria
- Focal dystonia
- Spasticity
Not very common - Between 30% and 50% cases
- Hernia
- Visual loss
- Inguinal hernia
- Bronchiectasis
- Recurrent respiratory infections
And 65 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to POLA1 gene
Here you will find a list of rare diseases related to the POLA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
N SYNDROME
Description
N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.
Most common symptoms of N SYNDROME
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Neoplasm
- Cryptorchidism
More info about N SYNDROME
X-LINKED RETICULATE PIGMENTARY DISORDER
Alternate names
X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis, mental retardation, x-linked, with dystonic movements, ataxia, and seizures, pdr, mental retardation, x-linked, syndromic 1, x-linked cutaneous amyloidosis, xlpdr, mrx36, partington syndrome, partington disease, mrxs1, mental retarda
Description
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.
Most common symptoms of X-LINKED RETICULATE PIGMENTARY DISORDER
- Intellectual disability
- Seizures
- Global developmental delay
- Hypertelorism
- Abnormal facial shape
More info about X-LINKED RETICULATE PIGMENTARY DISORDER
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR
Alternate names
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr
Description
X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).
Most common symptoms of PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR
- Intellectual disability
- Seizures
- Global developmental delay
- Failure to thrive
- Visual impairment
More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR
SOURCES: OMIM
Search interest in POLA1
Potential gene panels for POLA1 gene
POLA1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the POLA1 gene.
More info about this panel Germany.
X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
X-LINKED RETICULATE PIGMENTARY DISORDER Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the POLA1 gene.
More info about this panel Spain.
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