DPM2 gene related symptoms and diseases

All the information presented here about the DPM2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,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 DPM2 gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase	Very Common - Between 80% and 100% cases
Myopathic facies	Very Common - Between 80% and 100% cases
Congenital contracture	Very Common - Between 80% and 100% cases
Trigonocephaly	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DPM2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Severe muscular hypotonia
Postnatal microcephaly
Hypotelorism
Dental malocclusion
Generalized myoclonic seizures
Respiratory tract infection
Thin upper lip vermilion
Cerebellar hypoplasia

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DPM2 gene

Here you will find a list of rare diseases related to the DPM2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY

Alternate names

CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY Is also known as cdg syndrome type iu, carbohydrate deficient glycoprotein syndrome type iu, congenital disorder of glycosylation type 1u, congenital disorder of glycosylation type iu, cdg1u, dpm2-cdg, cdg-iu, cdg iu, cdgiu, cmd with intellectual disability and severe epilepsy

Description

Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.

Most common symptoms of CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY

Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Scoliosis

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY

SOURCES: OMIM ORPHANET

Search interest in DPM2

Potential gene panels for DPM2 gene

Congenital Muscular Dystrophy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Congenital Muscular Dystrophy Advanced Sequencing Evaluation that also includes the following genes: TCAP RXYLT1 B4GAT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2

DPM2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to DPM2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to DPM2 gene

CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY

Alternate names

Description

Most common symptoms of CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY

Search interest in DPM2

Potential gene panels for DPM2 gene

Congenital Muscular Dystrophy Advanced Sequencing Evaluation Panel

Neuromuscular Disorders Panel Panel

Neuromuscular Disorders Sequencing Panel Panel

Congenital Muscular Dystrophy Deletion/Duplication Analysis Panel

Congenital Muscular Dystrophy Sequencing Panel Panel

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

Congenital disorder of glycosylation type 1u (sequence analysis of DPM2 gene) Panel

Congenital muscular dystrophies (NGS panel for 31 genes) Panel

Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel Panel

Congenital Muscular Dystrophy Sequencing Panel Panel

Congenital Disorder of Glycosylation, Type Iu and Secondary Dystroglycanopathy via DPM2 Gene Sequencing with CNV Detection Panel

Comprehensive Neuromuscular Sequencing Panel Panel

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Neurogenetic Disorders - panels Panel

Epileptic Encephalopathy Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Muscle Disease with CNS Involvement Panel

Newborn: “Floppy Infant “ Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Epilepsy Panel

Glycosylation disorder type 1U Panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

Muscular Dystrophies Panel Panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

Invitae Comprehensive Neuromuscular Disorders Panel Panel

Invitae Dystroglycanopathy Panel Panel

Invitae Comprehensive Muscular Dystrophy Panel Panel

Invitae Congenital Muscular Dystrophy Panel Panel

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel

Invitae Congenital Disorders of Glycosylation Panel Panel

Congenital Muscular Dystrophy: Deletion/Duplication Panel Panel

Congenital Muscular Dystrophy: Sequencing Panel Panel

Comprehensive Epilepsy NGS Panel Panel

Congenital Disorders of Glycosylation Panel Panel

Comprehensive Metabolism Panel Panel