NGLY1 gene related symptoms and diseases

All the information presented here about the NGLY1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NGLY1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Apraxia Very Common - Between 80% and 100% cases
Coxa valga Very Common - Between 80% and 100% cases
Aspiration Very Common - Between 80% and 100% cases
Decreased liver function Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NGLY1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Postnatal microcephaly
  • Decreased body weight
  • Involuntary movements
  • Choreoathetosis
  • Increased serum lactate
  • Sleep apnea
  • Delayed myelination
  • Gliosis

And 67 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to NGLY1 gene

Here you will find a list of rare diseases related to the NGLY1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME


Alternate names

ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME Is also known as cdg1v, formerly, congenital disorder of glycosylation, type iv, formerly, ngly1 deficiency, ngly1-cddg

Description

Alacrimia-choreoathetosis-liver dysfunction syndrome is a rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.

Most common symptoms of ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for NGLY1 gene

Congenital disorders of glycosylation (NGS panel for 39 genes) Panel

Portugal.

By CGC Genetics Congenital disorders of glycosylation (NGS panel for 39 genes) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 COG4 COG6 COG7

More info about this panel

Osteopetrosis, autosomal recessive 2 (sequence analysis of TNFSF11 gene) Panel

Portugal.

By CGC Genetics Osteopetrosis, autosomal recessive 2 (sequence analysis of TNFSF11 gene) that also includes the following genes: SSR4 NGLY1 STT3B STT3A

More info about this panel

Congenital disorder of glycosylation type 1v (sequence analysis of NGLY1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NGLY1 gene.

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4

More info about this panel

Invitae Epilepsy Panel Panel

United States.

By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1

More info about this panel

Invitae Rett and Angelman Syndromes and Related Disorders Panel Panel

United States.

By Invitae Invitae Rett and Angelman Syndromes and Related Disorders Panel that also includes the following genes: SCN8A SLC9A6 CDKL5 STXBP1 TCF4 UBE3A CNTNAP2 ZEB2 NGLY1 MBD5

More info about this panel

Invitae Congenital Disorders of Glycosylation Panel Panel

United States.

By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2

More info about this panel

Congenital Disorders of Glycosylation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

More info about this panel

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

More info about this panel

Congenital Disorders of Glycosylation Panel Panel

Finland.

By Blueprint Genetics Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 ATP6V0A2 COG4

More info about this panel

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PSEN2 PEX11B LPCAT2 MT-TQ

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more