MLPH gene related symptoms and diseases

All the information presented here about the MLPH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MLPH gene

Symptoms // Phenotype % Cases
Hypopigmentation of the skin Very Common - Between 80% and 100% cases
Hypopigmentation of hair Very Common - Between 80% and 100% cases
Iris hypopigmentation Very Common - Between 80% and 100% cases
Partial albinism Very Common - Between 80% and 100% cases
White eyelashes Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MLPH gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Silver-gray hair
  • Large clumps of pigment irregularly distributed along hair shaft
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Rare diseases associated to MLPH gene

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


GRISCELLI SYNDROME TYPE 3


Alternate names

GRISCELLI SYNDROME TYPE 3 Is also known as griscelli-pruni√Čras syndrome type 3

Most common symptoms of GRISCELLI SYNDROME TYPE 3

  • Hypopigmentation of the skin
  • Hypopigmentation of hair
  • Iris hypopigmentation
  • Partial albinism
  • White eyelashes


More info about GRISCELLI SYNDROME TYPE 3

SOURCES: MESH OMIM ORPHANET


Potential gene panels for MLPH gene

Platelet Disorders Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 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

Griscelli syndrome type 3 (sequence analysis of MLPH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MLPH 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

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST

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

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

MLPH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MLPH 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

GRISCELLI DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL GRISCELLI DISEASE that also includes the following genes: MLPH MYO5A RAB27A

More info about this panel

Griscelli Syndrome , Panel Massive Sequencing (NGS) MLPH, MYO5A, RAB27A Genes Panel

Spain.

By Reference Laboratory Genetics Griscelli Syndrome , Panel Massive Sequencing (NGS) MLPH, MYO5A, RAB27A Genes that also includes the following genes: MLPH MYO5A RAB27A

More info about this panel


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