POMT1 gene related symptoms and diseases

All the information presented here about the POMT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,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 POMT1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Common - Between 50% and 80% cases
Microcephaly	Common - Between 50% and 80% cases
Congenital muscular dystrophy	Common - Between 50% and 80% cases
Muscular dystrophy	Common - Between 50% and 80% cases
Muscle weakness	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with POMT1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Elevated serum creatine phosphokinase
Generalized hypotonia
Not very common - Between 30% and 50% cases
Abnormality of the cerebral white matter
Pachygyria
Cerebellar hypoplasia
Intellectual disability, severe
Hypoplasia of the corpus callosum
Myopia

And 183 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to POMT1 gene

Here you will find a list of rare diseases related to the POMT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K

Alternate names

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K Is also known as muscular dystrophy, limb-girdle, type 2k, muscular dystrophy, limb-girdle, autosomal recessive 11, lgmd2k, limb-girdle muscular dystrophy-intellectual disability syndrome, lgmdr11

Description

Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K

Intellectual disability
Microcephaly
Scoliosis
Muscle weakness
Flexion contracture

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K

SOURCES: OMIM ORPHANET

MUSCLE-EYE-BRAIN DISEASE

Alternate names

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome, santavuori congenital muscular dystrophy, walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related, muscle-eye-brain syndrome

Description

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

Most common symptoms of MUSCLE-EYE-BRAIN DISEASE

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about MUSCLE-EYE-BRAIN DISEASE

SOURCES: ORPHANET OMIM

WALKER-WARBURG SYNDROME

Alternate names

WALKER-WARBURG SYNDROME Is also known as hard syndrome, cerebroocular dysplasia-muscular dystrophy syndrome, hydrocephalus, agyria, and retinal dysplasia, walker-warburg syndrome or muscle-eye-brain disease, pomt1-related, wws, hydrocephalus-agyria-retinal dysplasia syndrome, cod-md syndrome

Description

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

Most common symptoms of WALKER-WARBURG SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about WALKER-WARBURG SYNDROME

SOURCES: ORPHANET OMIM

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

Alternate names

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Is also known as muscular dystrophy, congenital, pomt1-related

Description

Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B)Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGB3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGB4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGB5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGB6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); and MDDGB14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

Most common symptoms of MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

Intellectual disability
Global developmental delay
Generalized hypotonia
Microcephaly
Scoliosis

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

SOURCES: OMIM

CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT

Alternate names

CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT Is also known as cmd with cerebellar involvement, cmd-crb

Description

Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscule weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.

More info about CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT

SOURCES: ORPHANET

CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY

Alternate names

CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY Is also known as cmd with intellectual disability, cmd-mr

Description

Congenital muscular dystrophy with intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY

SOURCES: ORPHANET

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

Alternate names

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY Is also known as cmd without intellectual disability, cmd-no mr, congenital muscular dystrophy-dystroglycanopathy without intellectual disability

Description

Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.

Most common symptoms of CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

Intellectual disability
Generalized hypotonia
Microcephaly
Motor delay
Ventriculomegaly

More info about CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

SOURCES: ORPHANET

Search interest in POMT1

Potential gene panels for POMT1 gene

Limb Girdle Muscular Dystrophy Advanced Evaluation Panel

United States.

By Athena Diagnostics Inc Limb Girdle Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

POMT1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to POMT1 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 POMT1 gene

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K

MUSCLE-EYE-BRAIN DISEASE

Alternate names

Description

Most common symptoms of MUSCLE-EYE-BRAIN DISEASE

WALKER-WARBURG SYNDROME

Alternate names

Description

Most common symptoms of WALKER-WARBURG SYNDROME

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

Alternate names

Description

Most common symptoms of MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT

Alternate names

Description

CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY

Alternate names

Description

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

Alternate names

Description

Most common symptoms of CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

Search interest in POMT1

Potential gene panels for POMT1 gene

Limb Girdle Muscular Dystrophy Advanced Evaluation Panel

Muscular Dystrophy Advanced Evaluation Panel

Congenital Muscular Dystrophy Advanced Sequencing Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Neuromuscular Disorders Panel Panel

Test for POMT1-Related Muscle Diseases Panel

CMD panel Panel

Comprehensive Brain Malformation Panel Panel

Comprehensive Neuromuscular Panel Panel

Congenital Muscular Dystrophy Panel

Limb-Girdle Muscular Dystrophy Panel

Cerebral Cortical Deletion/Duplication Panel Panel

Cerebral Cortical Malformation Sequencing Panel Panel

Lissencephaly Sequencing Panel Panel

Comprehensive Lissencephaly Panel Panel

Cobblestone Lissencephaly Panel Panel

Congenital Muscular Dystrophy Deletion/Duplication Analysis Panel

Congenital Muscular Dystrophy Sequencing Panel Panel

Limb-Girdle Muscular Dystrophy Sequencing Panel Panel

Cerebral Cortical Malformations Deletion/Duplication Panel Panel

Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel Panel

Congenital Muscular Dystrophy- Dystroglycanopathy Sequencing Panel Panel

Ataxia Exome Panel Panel

POMT1 Panel

Comprehensive Brain Malformations Panel Panel

Cortical Brain Malformations Panel Panel

Lissencephaly Panel Panel

POMT1. Complete sequencing Panel

Limb-girdle muscular dystrophies (NGS panel for 26 genes) Panel

Walker-Warburg syndrome (sequence analysis of POMT1 gene) Panel

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Congenital muscular dystrophies (NGS panel for 31 genes) Panel

Lissencephaly (NGS panel for 12 genes) Panel

POMT1 Sequencing Panel

Walker-Warburg Syndrome via POMT1 Gene Sequencing with CNV Detection Panel

Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel Panel

Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel

Congenital Muscular Dystrophy Sequencing Panel Panel

Comprehensive Neuromuscular Sequencing Panel Panel

Hydrocephalus Sequencing Panel with CNV Detection Panel

Limb girdle muscular dystrophy Comprehensive panel Panel

Limb girdle muscular dystrophy Deletion / Duplication panel Panel

Limb girdle muscular dystrophy NGS panel Panel

Lissencephaly and related disorders NGS test Panel

Lissencephaly and related disorders Deletion / Duplication test Panel