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
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
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
Search interest in MYO5A
Potential gene panels for MYO5A gene
Platelet Disorders Panel
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 panelAlbinism sequencing panel Panel
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 panelAlbinism Deletion/Duplication Panel Panel
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 panelMYO5A. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MYO5A gene.
More info about this panelGriscelli Syndrome type 1 (sequence analysis of MYO5A gene) Panel
By CGC Genetics
This panel specifically test the MYO5A gene.
More info about this panelAlbinism (NGS panel for 12 genes) Panel
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 panelOculocutaneous Albinism Sequencing Panel with CNV Detection Panel
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 panelOculocutaneous Albinism in Griscelli syndrome via MYO5A Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MYO5A gene.
More info about this panelHypopigmentation Sequencing Panel with CNV Detection Panel
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 panelMental retardation - different panels Panel
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 panelGriscelli syndrome type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MYO5A gene.
More info about this panelAllNeuro panel Panel
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 panelAlbinism Panel
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 panelGenetic disorders with abnormal pigmentation Panel Panel
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 panelDefects of phagocytosis Panel Panel
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 panelHermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel
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 panelGriscelli syndrome, type 1: MYO5A gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the MYO5A gene.
More info about this panelAlbinism Panel
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 panelAlbinism NGS Panel Panel
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 panelIntellectual Disability NGS Panel Panel
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 panelMYO5A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MYO5A gene.
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelAlbinism Panel Panel
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 panelHemophagocytic Lymphohistiocytosis Panel Panel
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 panelComprehensive Hematology Panel Panel
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 panelBone Marrow Failure Syndrome Panel Panel
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 panelGriscelli syndrome, type 1 Panel
By Bioarray
This panel specifically test the MYO5A gene.
More info about this panelALBINISM: NGS PANEL Panel
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 panelGRISCELLI DISEASE Panel
By Laboratorio de Genetica Clinica SL GRISCELLI DISEASE that also includes the following genes: MLPH MYO5A RAB27A
More info about this panelAlbinisim panel Panel
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 panelGriscelli Syndrome Type 1, Sequencing MYO5A Gene Panel
By Reference Laboratory Genetics
This panel specifically test the MYO5A gene.
More info about this panelGriscelli Syndrome , Panel Massive Sequencing (NGS) MLPH, MYO5A, RAB27A Genes Panel
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 panelAlbinism , Panel Massive Sequencing (NGS) 12 Genes Panel
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
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