Page last updated: 2024-09-27

beta-Mannosidase Deficiency

An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation.

Synonyms(5)

Synonym
Lysosomal beta A Mannosidosis
Mannosidosis, beta A, Lysosomal
Lysosomal beta-Mannosidase Deficiency
beta-Mannosidosis
beta-Mannosidase Deficiency

Research

Studies (3)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's1 (33.33)18.1394
2010's1 (33.33)28.8240
2020's1 (33.33)9.53
DrugIndicatedRelationship StrengthStudiesTrials
adenine0low10
flumazenil0low10
mannose0low10
guanine0low10

Protein Targets (129)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
Chain A, MTA/SAH nucleosidase0101
Chain A, Ribosome-inactivating protein alpha-trichosanthin0011
Chain A, Ricin A chain0011
Chain A, Ribosome-inactivating protein 30011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
RAR-related orphan receptor gamma1001
TDP1 protein2002
AR protein1001
nuclear receptor subfamily 1, group I, member 32002
cytochrome P450 family 3 subfamily A polypeptide 41001
glucocorticoid receptor [Homo sapiens]1001
estrogen-related nuclear receptor alpha1001
pregnane X nuclear receptor1001
estrogen nuclear receptor alpha1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
nuclear factor erythroid 2-related factor 2 isoform 22002
heat shock protein beta-11001
importin subunit beta-1 isoform 11001
snurportin-11001
tumor susceptibility gene 101 protein1001
GTP-binding nuclear protein Ran isoform 11001
lamin isoform A-delta101001
Voltage-dependent calcium channel gamma-2 subunit1001
Bile salt export pump0202
Cyclin-dependent kinase 10101
Heat shock protein HSP 90-beta0101
Glutamate receptor 21001
Xanthine dehydrogenase/oxidase0101
TAR DNA-binding protein 432002
Protein mono-ADP-ribosyltransferase PARP150101
Leucine-rich repeat serine/threonine-protein kinase 20202
ATPase family AAA domain-containing protein 51001
Ataxin-21001
endonuclease IV1001
thioredoxin reductase1001
phosphopantetheinyl transferase1001
aldehyde dehydrogenase 1 family, member A11001
thyroid stimulating hormone receptor1001
progesterone receptor1001
regulator of G-protein signaling 41001
EWS/FLI fusion protein1001
G1001
arylsulfatase A1001
euchromatic histone-lysine N-methyltransferase 21001
Bloom syndrome protein isoform 11001
cytochrome P450 2D6 isoform 11001
cytochrome P450 2C19 precursor1001
flap endonuclease 11001
nuclear receptor ROR-gamma isoform 11001
geminin1001
survival motor neuron protein isoform d1001
muscleblind-like protein 1 isoform 11001
muscarinic acetylcholine receptor M11001
Gamma-aminobutyric acid receptor subunit pi0101
Gamma-aminobutyric acid receptor subunit pi0202
Gamma-aminobutyric acid receptor subunit delta0101
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Bile salt export pump0101
Interferon beta1001
HLA class I histocompatibility antigen, B alpha chain 1001
Gamma-aminobutyric acid receptor subunit alpha-10202
Gamma-aminobutyric acid receptor subunit beta-10202
Neuronal acetylcholine receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit alpha-20202
Gamma-aminobutyric acid receptor subunit alpha-30202
Neuronal acetylcholine receptor subunit beta-20101
Gamma-aminobutyric acid receptor subunit alpha-10112
Gamma-aminobutyric acid receptor subunit beta-10202
Gamma-aminobutyric acid receptor subunit beta-10101
Gamma-aminobutyric acid receptor subunit delta0202
Gamma-aminobutyric acid receptor subunit gamma-20112
Gamma-aminobutyric acid receptor subunit gamma-20202
5-hydroxytryptamine receptor 1A0101
Gamma-aminobutyric acid receptor subunit alpha-50202
Gamma-aminobutyric acid receptor subunit alpha-30202
Gamma-aminobutyric acid receptor subunit alpha-40202
Gamma-aminobutyric acid receptor subunit gamma-20202
Gamma-aminobutyric acid receptor subunit gamma-10202
Gamma-aminobutyric acid receptor subunit alpha-20202
Gamma-aminobutyric acid receptor subunit alpha-40202
Gamma-aminobutyric acid receptor subunit beta-30112
Gamma-aminobutyric acid receptor subunit gamma-30202
Gamma-aminobutyric acid receptor subunit alpha-60202
Gamma-aminobutyric acid receptor subunit alpha-50112
Gamma-aminobutyric acid receptor subunit alpha-30112
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit beta-20101
Gamma-aminobutyric acid receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit alpha-10202
Gamma-aminobutyric acid receptor subunit beta-30202
Gamma-aminobutyric acid receptor subunit beta-20202
Gamma-aminobutyric acid receptor subunit epsilon0101
Neuronal acetylcholine receptor subunit alpha-70101
Gamma-aminobutyric acid receptor subunit alpha-60101
Gamma-aminobutyric acid receptor subunit gamma-10101
GABA theta subunit0202
Inositol hexakisphosphate kinase 11001
Canalicular multispecific organic anion transporter 10101
Gamma-aminobutyric acid receptor subunit gamma-30101
Gamma-aminobutyric acid receptor subunit epsilon0202
Gamma-aminobutyric acid receptor subunit theta0101
cytochrome P450 2C9, partial1001
Purine nucleoside phosphorylase0202
Hypoxanthine-guanine phosphoribosyltransferase0001
Ricin0101
2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase0011
Purine nucleoside phosphorylase 0012
Shiga toxin subunit A0101
Guanine deaminase0001
chromobox protein homolog 11001
transcriptional regulator ERG isoform 31001
DNA polymerase kappa isoform 11001
Alpha-mannosidase 2C10101
Fucose-binding lectin PA-IIL0101
CD209 antigen0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]