MAN2B1 gene related symptoms and diseases

All the information presented here about the MAN2B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, 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 MAN2B1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Uncommon - Between 30% and 50% cases
Prominent supraorbital ridges	Uncommon - Between 30% and 50% cases
Hallucinations	Uncommon - Between 30% and 50% cases
Spastic gait	Uncommon - Between 30% and 50% cases
Low anterior hairline	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MAN2B1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Narrow palate
Recurrent bacterial infections
Widely spaced teeth
Increased intracranial pressure
Chronic otitis media
Gingival overgrowth
Heart murmur
Flat occiput

And 149 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MAN2B1 gene

Here you will find a list of rare diseases related to the MAN2B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Alternate names

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis, lysosomal alpha-d-mannosidase deficiency, alpha-mannosidase b deficiency

Description

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

Most common symptoms of MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Intellectual disability
Global developmental delay
Generalized hypotonia
Hearing impairment
Scoliosis

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

SOURCES: ORPHANET OMIM

ALPHA-MANNOSIDOSIS, INFANTILE FORM

Alternate names

ALPHA-MANNOSIDOSIS, INFANTILE FORM Is also known as lysosomal alpha-d-mannosidase deficiency, infantile form

More info about ALPHA-MANNOSIDOSIS, INFANTILE FORM

SOURCES: ORPHANET

ALPHA-MANNOSIDOSIS, ADULT FORM

Alternate names

ALPHA-MANNOSIDOSIS, ADULT FORM Is also known as lysosomal alpha-d-mannosidase deficiency, adult form

More info about ALPHA-MANNOSIDOSIS, ADULT FORM

SOURCES: ORPHANET

Search interest in MAN2B1

Potential gene panels for MAN2B1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

MAN2B1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MAN2B1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to MAN2B1 gene

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Alternate names

Description

Most common symptoms of MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

ALPHA-MANNOSIDOSIS, INFANTILE FORM

Alternate names

ALPHA-MANNOSIDOSIS, ADULT FORM

Alternate names

Search interest in MAN2B1

Potential gene panels for MAN2B1 gene

MitoMet®Plus aCGH Analysis Panel

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

Lysosomal Storage Disease Panel Panel

NGS Hearing Loss Panel Panel

Alpha-mannosidosis Panel

Lysosomal Storage Disease Panel Panel

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

MAN2B1. Complete sequencing Panel

MAN2B1. Detection of the mutations p.Arg750Trp, p.Leu809Pro and c.1830 1G>C by sequencing Panel

Alpha-mannosidase (sequence analysis of MAN2B1 gene) Panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Alpha-Mannosidosis via MAN2B1 Gene Sequencing with CNV Detection Panel

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Mannosidosis, alpha-, types I and II (MAN2B1) Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Mannosidosis-alpha Panel

Single gene testing MAN2B1 Panel

Lysosomal Storage Disease Panel

Family Prep Screen Panel

qCarrier Plus Panel

Invitae Comprehensive Lysosomal Storage Disorders Panel Panel

Invitae Oligosaccharidoses Panel Panel

Invitae Treatable Neurometabolic Disorders Panel Panel

Alpha-Mannosidosis: MAN2B1 Gene Sequencing Panel

Alpha-Mannosidosis: MAN2B1 Gene Deletion/Duplication Panel

Lysosomal Storage Disorders: Sequencing Panel Panel

Inherited Metabolic Disorders: Sequencing Panel Panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

Alpha-Mannosidosis (MAN2B1) Panel

Inheritest NGS, Comprehensive Panel

Lysosomal Disorders NGS Panel Panel

Intellectual Disability NGS Panel Panel

MAN2B1 Panel

Comprehensive Hearing Loss and Deafness Panel Panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Syndromic Hearing Loss Panel Panel

Comprehensive Metabolism Panel Panel

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Panel

Alpha-Mannosidosis , Sequencing MAN2B1 Gene Panel

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel