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.
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
Search interest in NGLY1
Potential gene panels for NGLY1 gene
Congenital disorders of glycosylation (NGS panel for 39 genes) Panel
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 panelOsteopetrosis, autosomal recessive 2 (sequence analysis of TNFSF11 gene) Panel
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 panelCongenital disorder of glycosylation type 1v (sequence analysis of NGLY1 gene) Panel
By CGC Genetics
This panel specifically test the NGLY1 gene.
More info about this panelEpilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
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 panelCongenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel
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 panelInvitae Epilepsy Panel Panel
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 panelInvitae Rett and Angelman Syndromes and Related Disorders Panel Panel
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 panelInvitae Congenital Disorders of Glycosylation Panel Panel
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 panelCongenital Disorders of Glycosylation: Sequencing Panel Panel
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 panelCongenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
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 panelCongenital Disorders of Glycosylation Panel Panel
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 panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
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