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.

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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


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

AP3D1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AP3D1 gene.

More info about this panel

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

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


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