MYO5A gene related symptoms and diseases

All the information presented here about the MYO5A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MYO5A gene

Symptoms // Phenotype % Cases
Hypopigmentation of the skin Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MYO5A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nystagmus
  • Muscular hypotonia
  • Spasticity
  • Premature graying of hair
  • Not very common - Between 30% and 50% cases

  • Rigidity
  • Myopia
  • Optic atrophy
  • Tremor

And 82 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MYO5A gene

Here you will find a list of rare diseases related to the MYO5A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GRISCELLI SYNDROME TYPE 1

Alternate names

GRISCELLI SYNDROME TYPE 1 Is also known as partial albinism and primary neurologic disease without hemophagocytic syndrome, griscelli syndrome, cutaneous and neurologic type, griscelli-pruniÉras syndrome type 1, hypopigmentation-neurologic impairment syndrome, griscelli syndrome with neurologic impair

Description

Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (OMIM ), is caused by mutation in the RAB27A gene (OMIM ). Griscelli syndrome type 3 (OMIM ), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH ) or MYO5A genes.Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse.Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and {3,2:Bahadoran et al. (2003, 2003)} suggested that Elejalde syndrome (OMIM ) in some patients and GS1 represent the same entity.

Most common symptoms of GRISCELLI SYNDROME TYPE 1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


More info about GRISCELLI SYNDROME TYPE 1

SOURCES: MESH OMIM ORPHANET

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

SOURCES: MESH OMIM ORPHANET

NEUROECTODERMAL MELANOLYSOSOMAL DISEASE

Alternate names

NEUROECTODERMAL MELANOLYSOSOMAL DISEASE Is also known as elejalde disease

Description

Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.

Most common symptoms of NEUROECTODERMAL MELANOLYSOSOMAL DISEASE

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus


More info about NEUROECTODERMAL MELANOLYSOSOMAL DISEASE

SOURCES: ORPHANET

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Alternate names

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Description

Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

Most common symptoms of ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

SOURCES: OMIM


Potential gene panels for MYO5A 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.

MYO5A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MYO5A gene.

More info about this panel
Spain.

Griscelli Syndrome type 1 (sequence analysis of MYO5A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYO5A gene.

More info about this panel
Portugal.

Albinism (NGS panel for 12 genes) Panel

Portugal.

By CGC Genetics Albinism (NGS panel for 12 genes) that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R MITF MYO5A

More info about this panel
Portugal.

Oculocutaneous Albinism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Oculocutaneous Albinism Sequencing Panel with CNV Detection that also includes the following genes: TYR TYRP1 SLC45A2 HPS6 LYST GPR143 SLC24A5 LRMDA MC1R MITF

More info about this panel
United States.

Oculocutaneous Albinism in Griscelli syndrome via MYO5A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MYO5A gene.

More info about this panel
United States.

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.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Griscelli syndrome type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MYO5A gene.

More info about this panel
Germany.

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
Germany.

Albinism Panel

Germany.

By Centogene AG - the Rare Disease Company Albinism that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 MC1R MITF MYO5A OCA2 RAB27A

More info about this panel
Germany.

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.

Griscelli syndrome, type 1: MYO5A gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the MYO5A gene.

More info about this panel
Spain.

Albinism Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Albinism that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R MITF MYO5A OCA2

More info about this panel
Spain.

Albinism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Albinism NGS Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 MC1R MITF MYO5A OCA2 RAB27A

More info about this panel
United States.

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel
United States.

MYO5A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MYO5A gene.

More info about this panel
United States.

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel
Finland.

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.

Hemophagocytic Lymphohistiocytosis Panel Panel

Finland.

By Blueprint Genetics Hemophagocytic Lymphohistiocytosis Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG LYST UNC13D MAGT1 FADD XIAP

More info about this panel
Finland.

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.

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
Finland.

Griscelli syndrome, type 1 Panel

Spain.

By Bioarray

This panel specifically test the MYO5A gene.

More info about this panel
Spain.

ALBINISM: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ALBINISM: NGS PANEL that also includes the following genes: TYR TYRP1 SLC45A2 HPS6 LYST GPR143 SLC24A5 LRMDA MC1R MITF

More info about this panel
Spain.

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.

Albinisim panel Panel

Canada.

By LifeLabs Genetics Albinisim panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R MITF MYO5A OCA2

More info about this panel
Canada.

Griscelli Syndrome Type 1, Sequencing MYO5A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MYO5A gene.

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.

Albinism , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Albinism , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R MITF MYO5A

More info about this panel
Spain.

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