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Beta-D-mannosidosis(MANSB)

MedGen UID:: 888408
•Concept ID:: C4048196
•: Disease or Syndrome

Synonyms:	Beta-mannosidase deficiency; Beta-Mannosidosis; Lysosomal beta-mannosidase deficiency; Mannosidosis, beta A, lysosomal; MANSB
SNOMED CT:	Beta-D-mannosidosis (238047006); Beta-mannosidase deficiency (238047006)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	MANBA (4q24)

Monarch Initiative:	MONDO:0009562
OMIM®:	248510
Orphanet:	ORPHA118

Definition

Beta-mannosidosis (MANSB) is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease (Bedilu et al., 2002). The disorder was first described in goats (Jones and Dawson, 1981), who have a more severe neurodegenerative disorder than that seen in humans. [from OMIM]

Additional description

From MedlinePlus Genetics
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.

Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges from infancy to adulthood. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be prone to depression or have behavioral problems such as hyperactivity, impulsivity or aggression. People with beta-mannosidosis are often extremely introverted.

People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial features and clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas). https://medlineplus.gov/genetics/condition/beta-mannosidosis

Clinical features

From HPO

Increased urinary disaccharide excretion

MedGen UID:: 868660
•Concept ID:: C4023062
•: Finding

Increased concentration of disaccharide in the urine.

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Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

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Aggressive behavior

MedGen UID:: 1375
•Concept ID:: C0001807
•: Individual Behavior

Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).

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Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Demyelinating peripheral neuropathy

MedGen UID:: 82859
•Concept ID:: C0270922
•: Disease or Syndrome

Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.

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Hyperactivity

MedGen UID:: 98406
•Concept ID:: C0424295
•: Finding

Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.

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Abnormal speech pattern

MedGen UID:: 1853271
•Concept ID:: C3687424
•: Finding

An abnormality in the sound (volume) or cadence (rate) of speech.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Hypotonia

MedGen UID:: 10133
•Concept ID:: C0026827
•: Finding

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

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Generalized hypotonia

MedGen UID:: 346841
•Concept ID:: C1858120
•: Finding

Generalized muscular hypotonia (abnormally low muscle tone).

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Recurrent infections

MedGen UID:: 65998
•Concept ID:: C0239998
•: Finding

Increased susceptibility to infections.

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Decreased circulating beta-mannosidase activity

MedGen UID:: 1853122
•Concept ID:: C5872910
•: Finding

Activity of the enzyme beta-mannosidase below the lower limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.

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Reduced tissue beta-mannosidase activity

MedGen UID:: 1853286
•Concept ID:: C5872954
•: Finding

Concentration or activity of beta-mannosidase (EC 3.2.1.25) below the lower limit of normal. Beta-mannosidas enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.

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Abnormal facial shape

MedGen UID:: 98409
•Concept ID:: C0424503
•: Finding

An abnormal morphology (form) of the face or its components.

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Angiokeratoma

MedGen UID:: 1542
•Concept ID:: C0002985
•: Neoplastic Process

Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.

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Tortuosity of conjunctival vessels

MedGen UID:: 344487
•Concept ID:: C1855391
•: Finding

The presence of an increased number of twists and turns of the conjunctival blood vessels.

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Show all Hide all

Abnormality of head or neck
- Abnormal facial shape
Abnormality of metabolism/homeostasis
- Decreased circulating beta-mannosidase activity
- Reduced tissue beta-mannosidase activity
Abnormality of the eye
- Tortuosity of conjunctival vessels
Abnormality of the genitourinary system
- Increased urinary disaccharide excretion
Abnormality of the immune system
- Recurrent infections
Abnormality of the integument
- Angiokeratoma
Abnormality of the musculoskeletal system
- Generalized hypotonia
- Hypotonia
Abnormality of the nervous system
Ear malformation
- Hearing impairment

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBeta-D-mannosidosis

Lysosomal disease with hypertrophic cardiomyopathy
- Beta-D-mannosidosis

Professional guidelines

PubMed

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Semeraro M, Sacchetti E, Deodato F, Coşkun T, Lay I, Catesini G, Olivieri G, Rizzo C, Boenzi S, Dionisi-Vici C
Orphanet J Rare Dis 2021 Jan 9;16(1):24. doi: 10.1186/s13023-020-01662-8. PMID: 33422100 Free PMC Article

UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.

Huang R, Cathey S, Pollard L, Wood T
Clin Chem 2018 Dec;64(12):1772-1779. Epub 2018 Sep 10 doi: 10.1373/clinchem.2018.289645. PMID: 30201803

Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle.

Taylor JF, Abbitt B, Walter JP, Davis SK, Jaques JT, Ochoa RF
Genetics 1993 Nov;135(3):855-68. doi: 10.1093/genetics/135.3.855. PMID: 8293984 Free PMC Article

See all (4)

MedGen

National Center for Biotechnology Information

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Beta-D-mannosidosis(MANSB)

Definition

Additional description

Clinical features

Term Hierarchy

Professional guidelines

PubMed

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