AP3D1 gene related symptoms and diseases
All the information presented here about the AP3D1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AP3D1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| EEG abnormality | Very Common - Between 80% and 100% cases |
| Pierre-Robin sequence | Very Common - Between 80% and 100% cases |
| Arachnoid cyst | Very Common - Between 80% and 100% cases |
| Interstitial pulmonary abnormality | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with AP3D1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Albinism
- Hypotelorism
- Delayed myelination
- Abnormal bleeding
- Generalized myoclonic seizures
- Neutropenia
- Smooth philtrum
- Generalized tonic-clonic seizures
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AP3D1 gene
Here you will find a list of rare diseases related to the AP3D1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HERMANSKY-PUDLAK SYNDROME 10; HPS10
Description
Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).
Most common symptoms of HERMANSKY-PUDLAK SYNDROME 10; HPS10
- Seizures
- Generalized hypotonia
- Microcephaly
- Nystagmus
- Low-set ears
More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10
SOURCES: OMIM
Search interest in AP3D1
Potential gene panels for AP3D1 gene
Hypopigmentation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypopigmentation Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panel United States.
AP3D1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AP3D1 gene.
More info about this panel United States.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Hermansky-Pudlak Syndrome Panel Panel
Finland.
By Blueprint Genetics Hermansky-Pudlak Syndrome Panel that also includes the following genes: SFTPB SFTPC TERC TERT TINF2 TYR TYRP1 HPS3 HPS4 SLC45A2
More info about this panel Finland.
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