MARS gene related symptoms and diseases
All the information presented here about the MARS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MARS gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Vomiting | Uncommon - Between 30% and 50% cases |
| Peripheral neuropathy | Uncommon - Between 30% and 50% cases |
| Hepatic failure | Uncommon - Between 30% and 50% cases |
| Interstitial pulmonary abnormality | Uncommon - Between 30% and 50% cases |
| Elevated hepatic transaminase | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MARS gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Abnormal lung morphology
- Hypothyroidism
- Dyspnea
- Acidosis
- Abnormality of the liver
- Cough
- Lactic acidosis
- Cirrhosis
And 45 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MARS gene
Here you will find a list of rare diseases related to the MARS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2U
Alternate names
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2U Is also known as charcot-marie-tooth disease, axonal, autosomal dominant, type 2u, charcot-marie-tooth neuropathy, type 2u, autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation, cmt2u
Description
Autosomal dominant Charcot-Marie-Tooth disease type 2U is a subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
Most common symptoms of AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2U
- Muscle weakness
- Pain
- Peripheral neuropathy
- Skeletal muscle atrophy
- Areflexia
More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2U
SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY
Alternate names
SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease, pap, reunion island type, pulmonary alveolar proteinosis, reunion island type, hereditary pulmonary alveolar proteinosis with hepatic involvement
Description
Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).
Most common symptoms of SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY
- Seizures
- Cardiomyopathy
- Vomiting
- Encephalopathy
- Jaundice
More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY
INTERSTITIAL LUNG AND LIVER DISEASE; ILLD
Alternate names
INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly, pulmonary alveolar proteinosis, reunion island, ilfs2, formerly
Description
Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).
Most common symptoms of INTERSTITIAL LUNG AND LIVER DISEASE; ILLD
- Generalized hypotonia
- Failure to thrive
- Anemia
- Motor delay
- Hepatomegaly
More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD
SOURCES: OMIM
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70
Alternate names
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70 Is also known as spg70
Description
Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.
Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70
- Global developmental delay
- Peripheral neuropathy
- Intellectual disability, mild
- Abnormality of movement
- Nephrotic syndrome
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70
SOURCES: ORPHANET
Search interest in MARS
Potential gene panels for MARS gene
Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1
More info about this panel United States.
Hereditary Spastic Paraplegia Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panel United States.
Charcot Marie Tooth Panel Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Charcot Marie Tooth Panel that also includes the following genes: SPTLC1 TTR PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel Argentina.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panel United States.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panel United States.
Neonatal Respiratory Distress Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Del/Dup Panel that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Neonatal Respiratory Distress Seq + Del/ Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Seq + Del/ Dup Panel that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Neonatal Respiratory Distress Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Seq Analysis that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel United States.
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 PRX GDAP1 TRIM2 FIG4 MFN2 TRPV4 FGD4 AARS GNB4
More info about this panel United States.
Charcot Marie Tooth Type 2U via MARS Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the MARS gene.
More info about this panel United States.
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
More info about this panel United States.
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panel United States.
Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX
More info about this panel United States.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
MARS Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the MARS gene.
More info about this panel Germany.
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 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.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
Germany.
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panel Germany.
Charcot-Marie-Tooth Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panel Estonia.
MARS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MARS gene.
More info about this panel United States.
Charcot-Marie-Tooth Neuropathy Panel Panel
Finland.
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panel Finland.
SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP
More info about this panel Spain.
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