ALG13 gene related symptoms and diseases

All the information presented here about the ALG13 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to ALG13 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Global developmental delay	Very Common - Between 80% and 100% cases
Generalized hypotonia	Very Common - Between 80% and 100% cases
Microcephaly	Very Common - Between 80% and 100% cases
Abnormal facial shape	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ALG13 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Intellectual disability, severe
Seizures
Not very common - Between 30% and 50% cases
Small hand
Epileptic encephalopathy
Delayed myelination
Abnormal bleeding
Sleep disturbance
Coarse facial features

And 52 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ALG13 gene

Here you will find a list of rare diseases related to the ALG13. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx, mrx18, mental retardation, x-linked 78, mrx78, mental retardation, x-linked 18

Description

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: MESH OMIM ORPHANET

ALG13-CDG

Alternate names

ALG13-CDG Is also known as cdg syndrome type is, congenital disorder of glycosylation type is, cdg1s, cdg-is, congenital disorder of glycosylation type 1s

Description

ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

Most common symptoms of ALG13-CDG

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about ALG13-CDG

SOURCES: ORPHANET OMIM

Search interest in ALG13

Potential gene panels for ALG13 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

ALG13 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ALG13 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to ALG13 gene

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

Description

Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

ALG13-CDG

Alternate names

Description

Most common symptoms of ALG13-CDG

Search interest in ALG13

Potential gene panels for ALG13 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

Congenital Disorders of Glycosylation Panel

Early Infantile Epileptic Encephalopathy Panel Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

CHOP Epilepsy Panel Panel

Glycosylation disorder type Is (sequence analysis of ALG13 gene) Panel

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

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Epilepsy: ALG13-Related Early Infantile Epileptic Encephalopathy via ALG13 Gene Sequencing with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Congenital Disorders of Glycosylation (CDG) Panel

AllNeuro panel Panel

Glycosylation disorder type 1S Panel

Epileptic Encephalopathy Panel Panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

Muscular Dystrophies Panel Panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

Epilepsy Panel

Invitae Epilepsy Panel Panel

Invitae Congenital Disorders of Glycosylation Panel Panel

Congenital disorder of N-linked glycosylation (CDG) Panel

Congenital Disorders of Glycosylation: Sequencing Panel Panel

Congenital Disorder of Glycosylation Type Is: ALG13 Gene Deletion/Duplication Panel

Congenital Disorder of Glycosylation Is: ALG13 Gene Sequencing Panel

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

Congenital Disorders of Glycosylation NGS Panel Panel

ALG13 Panel

Essential Epilepsy NGS Panel Panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

X-chromosome High Resolution microarray analysis Panel

Congenital Disorders of Glycosylation Panel Panel

Comprehensive Metabolism Panel Panel

Epileptic Encephalopathy Panel Panel

Comprehensive Epilepsy Panel Panel

Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Panel