AP1S1 gene related symptoms and diseases
All the information presented here about the AP1S1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AP1S1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Erythema | Very Common - Between 80% and 100% cases |
| Hypocupremia | Very Common - Between 80% and 100% cases |
| Intrahepatic cholestasis | Very Common - Between 80% and 100% cases |
| Congenital sensorineural hearing impairment | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with AP1S1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Erythroderma
- Abnormal intestine morphology
- Hepatic fibrosis
- Cholestasis
- Cirrhosis
- Ichthyosis
- High forehead
- Global developmental delay
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AP1S1 gene
Here you will find a list of rare diseases related to the AP1S1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MEDNIK SYNDROME
Alternate names
MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome, ekv3, erythrokeratodermia variabilis, kamouraska type, erythrokeratodermia variabilis 3
Description
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).
Most common symptoms of MEDNIK SYNDROME
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Growth delay
More info about MEDNIK SYNDROME
Search interest in AP1S1
Potential gene panels for AP1S1 gene
AP1S1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the AP1S1 gene.
More info about this panel Germany.
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SLC27A4 ST14 TGM1 ALOXE3 ABCA12 CLDN1 POMP PNPLA1 ABHD5 LIPN
More info about this panel United States.
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 Germany.
MEDNIK syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the AP1S1 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.
Ichthyoses and related disorders of cornification Panel Panel
Germany.
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
More info about this panel Germany.
Invitae Copper Metabolism Disorders Panel Panel
United States.
By Invitae Invitae Copper Metabolism Disorders Panel that also includes the following genes: CP AP1S1 ATP7A ATP7B SLC33A1
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
AP1S1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AP1S1 gene.
More info about this panel United States.
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP
More info about this panel Spain.
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