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.

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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

SOURCES: ORPHANET MESH OMIM


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

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

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

MEDNIK syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AP1S1 gene.

More info about this panel

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

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

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

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

AP1S1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AP1S1 gene.

More info about this panel

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


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