MOCS1 gene related symptoms and diseases

All the information presented here about the MOCS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MOCS1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Hypouricemia Very Common - Between 80% and 100% cases
Spastic tetraplegia Very Common - Between 80% and 100% cases
Tetraparesis Very Common - Between 80% and 100% cases
Progressive microcephaly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MOCS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Spastic tetraparesis
  • Poor head control
  • Hemiplegia
  • Ectopia lentis
  • Opisthotonus
  • Axonal loss
  • Lens luxation
  • Myoclonic spasms

And 44 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MOCS1 gene

Here you will find a list of rare diseases related to the MOCS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A


Alternate names

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of, combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a, mocod type a

Description

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

Most common symptoms of SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

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


More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

SOURCES: ORPHANET OMIM MESH


Potential gene panels for MOCS1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

MOCS1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MOCS1 gene.

More info about this panel

MOCS1 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MOCS1 gene.

More info about this panel

MOCS1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MOCS1 gene.

More info about this panel

MOCS1 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MOCS1 gene.

More info about this panel

Epilepsy Panel - Comprehensive Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5

More info about this panel

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB

More info about this panel

Molybdenum cofactor deficiency A (sequence analysis of MOCS1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MOCS1 gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

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 panel

Molybdenum Cofactor Deficiency Type A via MOCS1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MOCS1 gene.

More info about this panel

Molybdenum cofactor deficiency, type A Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the MOCS1 gene.

More info about this panel

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

Neurogenetic Disorders - panels Panel

Germany.

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 panel

Molybdenum cofactor deficiency, type A (MOCS1) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the MOCS1 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Molybdenum cofactor deficiency type A Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MOCS1 gene.

More info about this panel

Epileptic Encephalopathy Panel Panel

Germany.

By CeGaT GmbH Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SPTAN1

More info about this panel

Metabolic Epilepsy Panel Panel

Germany.

By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO

More info about this panel

Molybdenum Cofactor Deficiency Panel Panel

Germany.

By CeGaT GmbH Molybdenum Cofactor Deficiency Panel that also includes the following genes: GPHN MOCS1 MOCS2

More info about this panel

Single gene testing MOCS1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the MOCS1 gene.

More info about this panel

Epilepsy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8

More info about this panel

Invitae Purine Metabolism Disorders Panel Panel

United States.

By Invitae Invitae Purine Metabolism Disorders Panel that also includes the following genes: XDH GPHN MOCOS ADA ADSL AMPD1 HPRT1 MOCS1 PNP

More info about this panel

Invitae Treatable Neurometabolic Disorders Panel Panel

United States.

By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2

More info about this panel

Epilepsy NGS Panel Panel

United States.

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 panel

Lysosomal Disorders NGS Panel Panel

United States.

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 panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

MOCS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MOCS1 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

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 panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

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 panel

Comprehensive Metabolism Panel Panel

Finland.

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 panel

Metabolic Epilepsy Panel Panel

Finland.

By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT

More info about this panel

Epileptic Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

Nephrolithiasis Panel Panel

Finland.

By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2

More info about this panel

Purine and Pyrimidine Metabolism Disorders Panel Panel

Finland.

By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH

More info about this panel

MOLYBDENUM COFACTOR DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL MOLYBDENUM COFACTOR DEFICIENCY that also includes the following genes: GPHN MOCS1 MOCS2

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HDC TPO ESPN EMC1 POLG2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more