SLC39A4 gene related symptoms and diseases
All the information presented here about the SLC39A4 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 SLC39A4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Conjunctivitis | Very Common - Between 80% and 100% cases |
| Paronychia | Very Common - Between 80% and 100% cases |
| Ridged fingernail | Very Common - Between 80% and 100% cases |
| Glossitis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC39A4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Failure to thrive
- Ridged nail
- Furrowed tongue
- Corneal erosion
- Abnormal eyebrow morphology
- Blepharitis
- Pustule
- Poor appetite
And 39 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC39A4 gene
Here you will find a list of rare diseases related to the SLC39A4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACRODERMATITIS ENTEROPATHICA
Alternate names
ACRODERMATITIS ENTEROPATHICA Is also known as inherited zinc deficiency, aez, acrodermatitis enteropathica, zinc deficiency type
Description
Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
Most common symptoms of ACRODERMATITIS ENTEROPATHICA
- Short stature
- Failure to thrive
- Visual impairment
- Alopecia
- Cerebral cortical atrophy
More info about ACRODERMATITIS ENTEROPATHICA
SOURCES: ORPHANET
ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
Most common symptoms of ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
- Short stature
- Ataxia
- Failure to thrive
- Visual impairment
- Hepatomegaly
More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
Search interest in SLC39A4
Potential gene panels for SLC39A4 gene
SLC39A4 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SLC39A4 gene.
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
SLC39A4. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC39A4 gene.
More info about this panel Spain.
Acrodermatitis enteropathica (sequence analysis of SLC39A4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC39A4 gene.
More info about this panel Portugal.
Acrodermatitis enteropathica /zinc transporter (SLC39A4) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the SLC39A4 gene.
More info about this panel Netherlands.
Acrodermatitis enteropathica Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC39A4 gene.
More info about this panel Germany.
Acrodermatitis Enteropathica, Zinc-Deficiency Type (SLC39A4) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SLC39A4 gene.
More info about this panel Germany.
qCarrier Plus Panel
Spain.
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 panel Spain.
Acrodermatitis enteropathica: SLC39A4 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC39A4 gene.
More info about this panel Spain.
SLC39A4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC39A4 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.
Hereditary Acrodermatitis Enteropathica Panel Panel
Finland.
By Blueprint Genetics
This panel specifically test the SLC39A4 gene.
More info about this panel Finland.
Acrodermatitis enteropathica, zinc deficiency type Panel
Spain.
By Bioarray
This panel specifically test the SLC39A4 gene.
More info about this panel Spain.
ACRODERMATITIS ENTEROPATHICA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC39A4 gene.
More info about this panel Spain.
Acrodermatitis Enteropathica, Sequencing SLC39A4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC39A4 gene.
More info about this panel Spain.
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