LARS2 gene related symptoms and diseases
All the information presented here about the LARS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LARS2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Sensorineural hearing impairment | Common - Between 50% and 80% cases |
| Hearing impairment | Common - Between 50% and 80% cases |
| Primary amenorrhea | Common - Between 50% and 80% cases |
| Amenorrhea | Common - Between 50% and 80% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with LARS2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Internuclear ophthalmoplegia
- Abnormality of the uterus
- Severe hearing impairment
- Hypoplasia of the uterus
- Congenital sensorineural hearing impairment
- Premature ovarian insufficiency
- Progressive hearing impairment
- Titubation
And 67 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LARS2 gene
Here you will find a list of rare diseases related to the LARS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PERRAULT SYNDROME
Alternate names
PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness, gonadal dysgenesis, xx type, with deafness, xx gonodal dysgenesis-deafness syndrome
Description
Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.
Most common symptoms of PERRAULT SYNDROME
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
- Ataxia
More info about PERRAULT SYNDROME
PERRAULT SYNDROME 4; PRLTS4
Description
Perrault syndrome is characterized by premature ovarian failure (POF) in females and by progressive hearing loss in both females and males (summary by Pierce et al., 2013).For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (OMIM ).
Most common symptoms of PERRAULT SYNDROME 4; PRLTS4
- Hearing impairment
- Sensorineural hearing impairment
- Amenorrhea
- Primary amenorrhea
- Progressive hearing impairment
More info about PERRAULT SYNDROME 4; PRLTS4
SOURCES: OMIM
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA
Most common symptoms of HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA
- Seizures
- Anemia
- Hypertension
- Intrauterine growth retardation
- Ventricular septal defect
More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA
SOURCES: OMIM
Search interest in LARS2
Potential gene panels for LARS2 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
NGS Hearing Loss Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A
More info about this panel United States.
OtoSCOPE Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panel United States.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
OtoGenome Test for Hearing Loss (110 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panel United States.
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
Perrault syndrome 4 (PRLTS4, sequence analysis of LARS2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LARS2 gene.
More info about this panel Portugal.
Perrault Syndrome Type 4 via LARS2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the LARS2 gene.
More info about this panel United States.
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panel United States.
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.
Mitochondrial Diseases Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panel Germany.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
NGS Panel for Congenital and Acquired Sideroblastic Anemia Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital and Acquired Sideroblastic Anemia that also includes the following genes: SF3B1 SLC19A2 PUS1 LARS2 TRNT1 GLRX5 NDUFB11 YARS2 STEAP3 SLC25A38
More info about this panel Spain.
Perrault syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Perrault syndrome that also includes the following genes: LARS2 CLPP HARS2 HSD17B4
More info about this panel Spain.
Hearing Loss: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panel United States.
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 United States.
LARS2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LARS2 gene.
More info about this panel United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Ataxia Panel Panel
Finland.
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panel Finland.
Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panel Finland.
PERRAULT SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL PERRAULT SYNDROME that also includes the following genes: TWNK LARS2 CLPP ERAL1 HARS2 HSD17B4
More info about this panel Spain.
Perrault Syndrome Type 4 , Sequencing LARS2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LARS2 gene.
More info about this panel Spain.
Perrault Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Perrault Syndrome , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TWNK LARS2 CLPP HARS2 HSD17B4
More info about this panel Spain.
Perrault Syndrome: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Perrault Syndrome: gene sequencing panel that also includes the following genes: LARS2 CLPP HARS2 HSD17B4
More info about this panel Canada.
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