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
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-pruniÉras 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
Search interest in MLPH
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 United States.
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 United States.
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 United States.
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 Portugal.
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.
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 Germany.
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 Germany.
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 United States.
MLPH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MLPH gene.
More info about this panel United States.
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 Finland.
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 Spain.
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 Spain.
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