MCOLN1 gene related symptoms and diseases
All the information presented here about the MCOLN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MCOLN1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Absent speech | Very Common - Between 80% and 100% cases |
Developmental stagnation | Very Common - Between 80% and 100% cases |
Microcephaly | Very Common - Between 80% and 100% cases |
Corneal opacity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MCOLN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of ganglioside metabolism
- Photophobia
- Coarse facial features
- Abnormality of mucopolysaccharide metabolism
- Hyperreflexia
- Muscular hypotonia
- Strabismus
- Nystagmus
And 58 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MCOLN1 gene
Here you will find a list of rare diseases related to the MCOLN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MUCOLIPIDOSIS TYPE IV
Description
Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.
Most common symptoms of MUCOLIPIDOSIS TYPE IV
- Intellectual disability
- Microcephaly
- Ataxia
- Nystagmus
- Strabismus
SOURCES: ORPHANET
MUCOLIPIDOSIS IV; ML4
Alternate names
MUCOLIPIDOSIS IV; ML4 Is also known as ml iv, sialolipidosis
Description
Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).
Most common symptoms of MUCOLIPIDOSIS IV; ML4
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Ataxia
SOURCES: OMIM
Search interest in MCOLN1
Potential gene panels for MCOLN1 gene
GeneAware Complete Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Complete Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panelGeneAware ACMG/ACOG Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Male) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB
More info about this panelGeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panelGeneAware ACMG/ACOG Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Female) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR DMD FANCC FMR1 GBA HBA1
More info about this panelLysosomal Storage Disease Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1
More info about this panelmucolipidosis type IV Panel
By Center for Human Genetics, Inc
This panel specifically test the MCOLN1 gene.
More info about this panelAshkenazi Jewish Carrier Screening Panel Panel
By Center for Human Genetics, Inc Ashkenazi Jewish Carrier Screening Panel that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD F11 FANCC FKTN
More info about this panelTest for Mucolipidosis IV Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the MCOLN1 gene.
More info about this panelDystonia Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelMovement Disorders Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panelMucolipidosis IV Panel
By Molecular Genetics Columbia University
This panel specifically test the MCOLN1 gene.
More info about this panelLysosomal Storage Disease Panel Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panelAshkenazi Jewish Diseases, 16 Genes Panel
By ARUP Laboratories, Molecular Genetics and Genomics Ashkenazi Jewish Diseases, 16 Genes that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD FANCC G6PC HEXA
More info about this panelMucolipidosis Type IV (MCOLN1), 2 Variants Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the MCOLN1 gene.
More info about this panelMCOLN1 Gene Sequencing Panel
By GeneDx
This panel specifically test the MCOLN1 gene.
More info about this panelMucolipidosis type IV (sequence analysis of MCOLN1 gene) Panel
By CGC Genetics
This panel specifically test the MCOLN1 gene.
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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 panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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 panelMucolipidosis Type IV via MCOLN1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MCOLN1 gene.
More info about this panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panelMucopolysaccharidosis Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Mucopolysaccharidosis Deletion / Duplication panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1
More info about this panelMucopolysaccharidosis Comprehensive panel Panel
By Connective Tissue Gene Tests Mucopolysaccharidosis Comprehensive panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1
More info about this panelMucopolysaccharidosis NGS panel Panel
By Connective Tissue Gene Tests Mucopolysaccharidosis NGS panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1
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 panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelMucolipidosis IV (MCOLN1) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the MCOLN1 gene.
More info about this panelAshkenazi panel (basic) Panel
By Centogene AG - the Rare Disease Company Ashkenazi panel (basic) that also includes the following genes: BLM MCOLN1 FANCC HEXA ELP1 ASPA
More info about this panelAshkenazi panel (advanced) Panel
By Centogene AG - the Rare Disease Company Ashkenazi panel (advanced) that also includes the following genes: BLM CLRN1 MCOLN1 PCDH15 CFTR DLD FANCC G6PC GBA HEXA
More info about this panelMucolipidosis IV Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MCOLN1 gene.
More info about this panelLysosomal Disorders Panel Panel
By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA
More info about this panelLysosomal Disorders Panel Panel
By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA
More info about this panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panelSingle gene testing MCOLN1 Panel
By CeGaT GmbH
This panel specifically test the MCOLN1 gene.
More info about this panelAshkenazi Jewish diseases Panel
By Asper Biogene Asper Biogene LLC Ashkenazi Jewish diseases that also includes the following genes: BLM BRCA1 BRCA2 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 LRRK2 CFTR
More info about this panelLysosomal Storage Disease Panel
By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panelFamily Prep Screen Panel
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelInvitae Mucolipidosis Panel Panel
By Invitae Invitae Mucolipidosis Panel that also includes the following genes: MCOLN1 GNPTG GNPTAB NEU1
More info about this panelInvitae Comprehensive Lysosomal Storage Disorders Panel Panel
By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panelLysosomal Storage Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3
More info about this panelInherited Metabolic Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panelPan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panelAshkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panelDystonia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelACOG/ACMG Carrier Screen: Gene Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics ACOG/ACMG Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HEXA ELP1 ASPA
More info about this panelACOG/ACMG Carrier Screen: Targeted Mutation Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics ACOG/ACMG Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HEXA ELP1 ASPA
More info about this panelAshkenazi Jewish Carrier Screen: Targeted Mutation Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panelInheritest NGS, Society Guided Panel Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Society Guided Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC FMR1 GBA HBB HEXA
More info about this panelInheritest NGS, Ashkenazi Jewish Ancestry Panel Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS
More info about this panelAshkenazi Jewish Carrier Testing Panel
By Integrated Genetics Westborough Integrated Genetics Ashkenazi Jewish Carrier Testing that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC FKTN
More info about this panelMucolipidosis type IV Panel
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the MCOLN1 gene.
More info about this panelInheritest NGS, Comprehensive Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panelLysosomal Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
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 panelMCOLN1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MCOLN1 gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panelMucolipidosis Type IV Mutation Analysis Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the MCOLN1 gene.
More info about this panelMucolipidosis Type IV Mutation Analysis (NY) Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the MCOLN1 gene.
More info about this panelLysosomal Disorders and Mucopolysaccharidosis Panel Panel
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelMucolipidosis Type IV , Sequencing MCOLN1 Panel
By Reference Laboratory Genetics
This panel specifically test the MCOLN1 gene.
More info about this panelPeroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5
More info about this panelStorage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
More info about this panelplanTrue Extended Panel
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panelplanTrue ACOG & ACMG Screen Panel
By True Health Diagnostics planTrue ACOG & ACMG Screen that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB
More info about this panelplanTrue Standard Panel
By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panelplanTrue Jewish Screen Panel
By True Health Diagnostics planTrue Jewish Screen that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panelCEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panelCEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panelMucolipidosis IV: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the MCOLN1 gene.
More info about this panelPan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelMucolipidosis IV: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the MCOLN1 gene.
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