BLOC1S3 gene related symptoms and diseases

All the information presented here about the BLOC1S3 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 BLOC1S3 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Hypopigmentation of the skin Uncommon - Between 30% and 50% cases
Beta-cell dysfunction Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with BLOC1S3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Myopia
  • Recurrent infections
  • Reduced visual acuity
  • Pallor
  • Hypermetropia
  • Astigmatism
  • Bruising susceptibility
  • Neutropenia

And 43 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BLOC1S3 gene

Here you will find a list of rare diseases related to the BLOC1S3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


POLYCYSTIC OVARY SYNDROME 1; PCOS1


Alternate names

POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos

Description

a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance

Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1

  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Obesity
  • Diabetes mellitus
  • Apnea


More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1

SOURCES: OMIM MESH

HERMANSKY-PUDLAK SYNDROME TYPE 8


Alternate names

HERMANSKY-PUDLAK SYNDROME TYPE 8 Is also known as hps8

Most common symptoms of HERMANSKY-PUDLAK SYNDROME TYPE 8

  • Nystagmus
  • Visual impairment
  • Myopia
  • Recurrent infections
  • Reduced visual acuity


More info about HERMANSKY-PUDLAK SYNDROME TYPE 8

SOURCES: ORPHANET OMIM


Potential gene panels for BLOC1S3 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Ocular Albinism and Hermansky Pudlak Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Ocular Albinism and Hermansky Pudlak Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Hermansky-Pudlak and Pulmonary Fibrosis Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hermansky-Pudlak and Pulmonary Fibrosis Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT TINF2 NKX2-1 HPS3

More info about this panel

Albinism sequencing panel Panel

United States.

By Genetic Services Laboratory University of Chicago Albinism sequencing panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

Albinism Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Albinism Deletion/Duplication Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

Hermansky-Pudlak Syndrome Panel (9 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Hermansky-Pudlak Syndrome Panel (9 Genes) that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6

More info about this panel

PulmoGene Panel (64 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT NKX2-1 HPS3 HPS4

More info about this panel

Hermansky-Pudlak syndrome 8 (sequence analysis of BLOC1S3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BLOC1S3 gene.

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3

More info about this panel

Platelet Function Disorder Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Platelet Function Disorder Sequencing Panel with CNV Detection that also includes the following genes: TBXA2R TBXAS1 GP6 HPS3 HPS4 CD36 HPS5 DTNBP1 P2RY12 HPS6

More info about this panel

Hermansky-Pudlak Syndrome (HPS) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hermansky-Pudlak Syndrome (HPS) Sequencing Panel with CNV Detection that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6

More info about this panel

Hermansky-Pudlak Syndrome Type 8 (HPS8) via BLOC1S3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the BLOC1S3 gene.

More info about this panel

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

Platelet bleeding disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Platelet bleeding disorders NGS panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1

More info about this panel

Platelet bleeding disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Platelet bleeding disorders Deletion / Duplication panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1

More info about this panel

Platelet bleeding disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Platelet bleeding disorders Comprehensive panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1

More info about this panel

Hermansky-Pudlak syndrome type 8 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BLOC1S3 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Comprehensive pulmonary disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD

More info about this panel

Hermansky-Pudlak syndrome Panel Panel

Germany.

By CeGaT GmbH Hermansky-Pudlak syndrome Panel that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6

More info about this panel

Hermansky-Pudlak Syndrome Panel Panel

Germany.

By CeGaT GmbH Hermansky-Pudlak Syndrome Panel that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6

More info about this panel

Defects of phagocytosis Panel Panel

Germany.

By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3

More info about this panel

Oculocutaneous Albinism Panel

Estonia.

By Asper Biogene Asper Biogene LLC Oculocutaneous Albinism that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel

United States.

By Molecular Vision Laboratory Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6

More info about this panel

BLOC1S3 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the BLOC1S3 gene.

More info about this panel

aCGH Deletion/Duplication Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB

More info about this panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT

More info about this panel

Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel that also includes the following genes: SFTPA1 SFTPB SFTPC SFTPD TERT HPS3 HPS4 DTNBP1 HPS6 BLOC1S3

More info about this panel

Hermansky-Pudlak Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hermansky-Pudlak Syndrome NGS Panel that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6

More info about this panel

Lung Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC

More info about this panel

BLOC1S3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BLOC1S3 gene.

More info about this panel

Albinism Panel Panel

Finland.

By Blueprint Genetics Albinism Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

Platelet Function Disorder Panel Panel

Finland.

By Blueprint Genetics Platelet Function Disorder Panel that also includes the following genes: RUNX1 TBXA2R THPO WIPF1 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6

More info about this panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

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

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

HERMANSKY-PUDLAK SYNDROME: NGS PANEL- Panel

Spain.

By Laboratorio de Genetica Clinica SL HERMANSKY-PUDLAK SYNDROME: NGS PANEL- that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6

More info about this panel

HERMANSKY-PUDLAK SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL HERMANSKY-PUDLAK SYNDROME that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6

More info about this panel

Hermansky-Pudlak Syndrome Type 8 , Sequencing BLOC1S3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the BLOC1S3 gene.

More info about this panel

Hermansky-Pudlak Syndrome , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Hermansky-Pudlak Syndrome , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6

More info about this panel

Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes Panel

Spain.

By Reference Laboratory Genetics Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: TBXA2R GP6 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6 BLOC1S3 ANO6

More info about this panel


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