SLC30A10 gene related symptoms and diseases
All the information presented here about the SLC30A10 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC30A10 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Microcephaly | Very Common - Between 80% and 100% cases |
| Axonal loss | Very Common - Between 80% and 100% cases |
| Echolalia | Very Common - Between 80% and 100% cases |
| Hypomimic face | Very Common - Between 80% and 100% cases |
| Action tremor | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC30A10 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Generalized dystonia
- Limb dystonia
- Polycythemia
- Abnormality of coagulation
- Astrocytosis
- Steppage gait
- Toe walking
- Emotional lability
And 59 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC30A10 gene
Here you will find a list of rare diseases related to the SLC30A10. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME
Alternate names
CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc, hypermanganesemia with dystonia, polycythemia, and cirrhosis
Description
Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012).
Most common symptoms of CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME
- Microcephaly
- Ataxia
- Hypertension
- Peripheral neuropathy
- Hepatomegaly
More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME
Search interest in SLC30A10
Potential gene panels for SLC30A10 gene
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Hypermanganesemia with dystonia, polycythemia and cirrhosis (sequence analysis of SLC30A10 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC30A10 gene.
More info about this panel Portugal.
Dystonia (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panel Portugal.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
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.
Hypermanganesemia with dystonia, polycythemia, and cirrhosis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC30A10 gene.
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.
Parkinsons disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Germany.
Hereditary Degenerative Syndromes Panel Panel
Germany.
By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A
More info about this panel Germany.
Parkinson all Panel Panel
Germany.
By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7
More info about this panel Germany.
Atypical Parkinson syndrome Panel Panel
Germany.
By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10
More info about this panel Germany.
Parkinson Dystonia Panel Panel
Germany.
By CeGaT GmbH Parkinson Dystonia Panel that also includes the following genes: SLC6A3 SPR TAF1 TH SLC30A10 GCH1 ATP1A3 PLA2G6 PRKRA
More info about this panel Germany.
Parkinson Syndrome, autosomal recessive Panel Panel
Germany.
By CeGaT GmbH Parkinson Syndrome, autosomal recessive Panel that also includes the following genes: SYNJ1 FBXO7 PINK1 DNAJC6 PARK7 VPS13C SLC30A10 ATP13A2 PRKN PLA2G6
More info about this panel Germany.
Dystonia Plus Syndrome Panel Panel
Germany.
By CeGaT GmbH Dystonia Plus Syndrome Panel that also includes the following genes: SGCE SPR TAF1 TH BCAP31 TUBB4A SLC30A10 COX20 FTL GCH1
More info about this panel Germany.
Dystonia All Panel Panel
Germany.
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel Germany.
Single gene testing SLC30A10 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SLC30A10 gene.
More info about this panel Germany.
Dystonia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB
More info about this panel Estonia.
Parkinson Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Parkinson Disease that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35 FBXO7
More info about this panel Estonia.
NGS panel - Parkinson Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1
More info about this panel Netherlands.
SLC30A10 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC30A10 gene.
More info about this panel United States.
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 Finland.
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