MCID: MNN019
MIFTS: 47

Mannosidosis, Beta a, Lysosomal

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Eye diseases

Aliases & Classifications for Mannosidosis, Beta a, Lysosomal

MalaCards integrated aliases for Mannosidosis, Beta a, Lysosomal:

Name: Mannosidosis, Beta a, Lysosomal 57 53 75
Beta-Mannosidosis 57 12 76 53 25 59 75 37 44 15 73
Lysosomal Beta-Mannosidase Deficiency 57 12 76 53 25 75 73
Beta-Mannosidase Deficiency 57 12 53 25 59 75
Beta-D-Mannosidosis 12 25 29 6 40
Mannosidosis, Beta 57 13
Mansb 57 75
Lysosomal Beta a Mannosidosis 25

Characteristics:

Orphanet epidemiological data:

59
beta-mannosidosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Czech Republic),1-9/1000000 (Netherlands),1-9/1000000 (Portugal); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
mannosidosis, beta a, lysosomal:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 248510
Disease Ontology 12 DOID:3633
MeSH 44 D044905
NCIt 50 C84596
SNOMED-CT 68 238047006
Orphanet 59 ORPHA118
MESH via Orphanet 45 D044905
UMLS via Orphanet 74 C0342849 C2931893
ICD10 via Orphanet 34 E77.1
KEGG 37 H00140

Summaries for Mannosidosis, Beta a, Lysosomal

UniProtKB/Swiss-Prot : 75 Mannosidosis, beta A, lysosomal: An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes.

MalaCards based summary : Mannosidosis, Beta a, Lysosomal, also known as beta-mannosidosis, is related to mannosidosis and angiokeratoma. An important gene associated with Mannosidosis, Beta a, Lysosomal is MANBA (Mannosidase Beta), and among its related pathways/superpathways are Other glycan degradation and Lysosome. The drug Krestin has been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are hearing impairment and intellectual disability

OMIM : 57 Beta-mannosidosis 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. (248510)

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 118Disease definitionBeta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.Visit the Orphanet disease page for more resources.

Genetics Home Reference : 25 Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.

Disease Ontology : 12 A lysosomal storage disease that has material basis in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.

Wikipedia : 76 Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide... more...

Related Diseases for Mannosidosis, Beta a, Lysosomal

Diseases in the Mannosidosis, Beta a, Lysosomal family:

Mannosidosis, Alpha B, Lysosomal

Diseases related to Mannosidosis, Beta a, Lysosomal via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 mannosidosis 31.7 MAN2B1 MANBA NAGA
2 angiokeratoma 30.5 CTSA MANBA NAGA
3 fucosidosis 28.2 CTSA GAA HEXA NAGA
4 lysosomal storage disease 27.9 CTSA GAA HEXA MAN2B1 MANBA
5 skin hemangioma 10.6 MANBA NAGA
6 glycoproteinosis 10.5 CTSA NAGA
7 mucopolysaccharidosis, type vii 10.2 HEXA MANBA
8 spindle cell synovial sarcoma 10.1 MAG MBP
9 isolated optic neuritis 10.1 CNP MBP
10 hereditary neuropathies 10.0 MAG MBP
11 thyroiditis 10.0
12 mucolipidosis iv 10.0 CTSA HEXA
13 polyradiculoneuropathy 10.0 MAG MBP
14 gilles de la tourette syndrome 9.9
15 peripheral nervous system disease 9.9
16 childhood disintegrative disease 9.9 HEXA MBP
17 aging 9.9
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
19 autosomal dominant cerebellar ataxia 9.9
20 schindler disease 9.9
21 sphingolipidosis 9.9 CTSA HEXA
22 internuclear ophthalmoplegia 9.9 HEXA MBP
23 central pontine myelinolysis 9.9 BCL2 MAG MBP
24 optic neuritis 9.8 MAG MBP
25 pelizaeus-merzbacher disease 9.7 MAG MBP
26 niemann-pick disease, type a 9.6 CNP MAG MBP
27 aspartylglucosaminuria 9.6 CTSA GAA NAGA
28 krabbe disease 9.5 GAA MBP
29 tay-sachs disease 9.4 CTSA HEXA
30 scheie syndrome 9.2 CTSA GAA HEXA
31 gangliosidosis gm2 8.9 CTSA GAA HEXA NAGA
32 mannosidosis, alpha b, lysosomal 8.6 CTSA GAA HEXA MAN2B1 MANBA

Graphical network of the top 20 diseases related to Mannosidosis, Beta a, Lysosomal:



Diseases related to Mannosidosis, Beta a, Lysosomal

Symptoms & Phenotypes for Mannosidosis, Beta a, Lysosomal

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
angiokeratoma

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggression

Cardiovascular Vascular:
tortuosity of conjunctival vessels

Head And Neck Ears:
deafness

Skin Nails Hair Skin Histology:
cytoplasmic vacuolization

Neurologic Peripheral Nervous System:
demyelinating peripheral neuropathy, progressive (rare)

Immunology:
recurrent infections

Head And Neck Eyes:
tortuosity of conjunctival vessels

Neurologic Central Nervous System:
hypotonia
mental retardation
seizures (rare)
speech impairment
gilles de la tourette syndrome (reported in 1 patient)

Head And Neck Face:
mild facial dysmorphism may occur

Muscle Soft Tissue:
thenar amyotrophy (rare)

Laboratory Abnormalities:
decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes
increased urinary disaccharides (mannosyl-n-acetylglucosamine)


Clinical features from OMIM:

248510

Human phenotypes related to Mannosidosis, Beta a, Lysosomal:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001250
4 abnormal facial shape 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001999
5 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
6 hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0005247
7 tortuosity of conjunctival vessels 32 HP:0000503
8 aggressive behavior 32 HP:0000718
9 hyperactivity 32 HP:0000752
10 angiokeratoma 32 HP:0001014
11 generalized hypotonia 32 HP:0001290
12 abnormality of metabolism/homeostasis 32 HP:0001939
13 neurological speech impairment 32 HP:0002167
14 recurrent infections 32 HP:0002719
15 demyelinating peripheral neuropathy 32 occasional (7.5%) HP:0007108
16 increased urinary disaccharide excretion 32 HP:0012066

MGI Mouse Phenotypes related to Mannosidosis, Beta a, Lysosomal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 BCL2 CNP CTSA GAA HEXA MAG
2 cellular MP:0005384 9.97 SERPINB5 BCL2 CNP CTSA GAA MAN2B1
3 hematopoietic system MP:0005397 9.91 CTSA MAG MAN2B1 MANBA MBP NAGA
4 homeostasis/metabolism MP:0005376 9.81 CTSA GAA HEXA MAG MAN2B1 MBP
5 hearing/vestibular/ear MP:0005377 9.72 BCL2 HEXA MAG MAN2B1 MBP
6 immune system MP:0005387 9.56 BCL2 CNP CTSA MAG MAN2B1 MANBA
7 reproductive system MP:0005389 9.17 BCL2 CNP CTSA HEXA MANBA MBP

Drugs & Therapeutics for Mannosidosis, Beta a, Lysosomal

Drugs for Mannosidosis, Beta a, Lysosomal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Krestin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422

Search NIH Clinical Center for Mannosidosis, Beta a, Lysosomal

Cochrane evidence based reviews: beta-mannosidosis

Genetic Tests for Mannosidosis, Beta a, Lysosomal

Genetic tests related to Mannosidosis, Beta a, Lysosomal:

# Genetic test Affiliating Genes
1 Beta-D-Mannosidosis 29 MANBA

Anatomical Context for Mannosidosis, Beta a, Lysosomal

MalaCards organs/tissues related to Mannosidosis, Beta a, Lysosomal:

41
Bone

Publications for Mannosidosis, Beta a, Lysosomal

Articles related to Mannosidosis, Beta a, Lysosomal:

# Title Authors Year
1
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency. ( 16401745 )
2006
2
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency. ( 8859034 )
1996
3
Human beta-mannosidase deficiency associated with peripheral neuropathy. ( 8285582 )
1994
4
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. ( 2079835 )
1990

Variations for Mannosidosis, Beta a, Lysosomal

ClinVar genetic disease variations for Mannosidosis, Beta a, Lysosomal:

6
(show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 MANBA MANBA, IVS-AS, A-G, -2 single nucleotide variant Pathogenic
2 MANBA MANBA, IVS7, A-G, +1 single nucleotide variant Pathogenic
3 MANBA MANBA, 10-BP INS, NT562 insertion Pathogenic
4 MANBA MANBA, IVS13AS, G-A, -1 single nucleotide variant Pathogenic
5 MANBA NM_005908.3(MANBA): c.1513T> C (p.Ser505Pro) single nucleotide variant Pathogenic rs121434334 GRCh37 Chromosome 4, 103579030: 103579030
6 MANBA NM_005908.3(MANBA): c.1513T> C (p.Ser505Pro) single nucleotide variant Pathogenic rs121434334 GRCh38 Chromosome 4, 102657873: 102657873
7 MANBA MANBA, 375A-G single nucleotide variant Pathogenic
8 MANBA NM_005908.3(MANBA): c.247G> T (p.Glu83Ter) single nucleotide variant Pathogenic rs121434335 GRCh37 Chromosome 4, 103647771: 103647771
9 MANBA NM_005908.3(MANBA): c.247G> T (p.Glu83Ter) single nucleotide variant Pathogenic rs121434335 GRCh38 Chromosome 4, 102726614: 102726614
10 MANBA NM_005908.3(MANBA): c.1276C> T (p.Gln426Ter) single nucleotide variant Pathogenic rs121434336 GRCh37 Chromosome 4, 103590161: 103590161
11 MANBA NM_005908.3(MANBA): c.1276C> T (p.Gln426Ter) single nucleotide variant Pathogenic rs121434336 GRCh38 Chromosome 4, 102669004: 102669004
12 MANBA MANBA, 2-BP DEL, 1541AT deletion Pathogenic
13 MANBA NM_005908.3(MANBA): c.*516T> C single nucleotide variant Uncertain significance rs562838260 GRCh38 Chromosome 4, 102631541: 102631541
14 MANBA NM_005908.3(MANBA): c.*516T> C single nucleotide variant Uncertain significance rs562838260 GRCh37 Chromosome 4, 103552698: 103552698
15 MANBA NM_005908.3(MANBA): c.*401G> A single nucleotide variant Benign rs4013 GRCh37 Chromosome 4, 103552813: 103552813
16 MANBA NM_005908.3(MANBA): c.*401G> A single nucleotide variant Benign rs4013 GRCh38 Chromosome 4, 102631656: 102631656
17 MANBA NM_005908.3(MANBA): c.*8T> G single nucleotide variant Uncertain significance rs199881261 GRCh37 Chromosome 4, 103553206: 103553206
18 MANBA NM_005908.3(MANBA): c.*8T> G single nucleotide variant Uncertain significance rs199881261 GRCh38 Chromosome 4, 102632049: 102632049
19 MANBA NM_005908.3(MANBA): c.2296C> T (p.Arg766Trp) single nucleotide variant Uncertain significance rs147428514 GRCh38 Chromosome 4, 102634907: 102634907
20 MANBA NM_005908.3(MANBA): c.2296C> T (p.Arg766Trp) single nucleotide variant Uncertain significance rs147428514 GRCh37 Chromosome 4, 103556064: 103556064
21 MANBA NM_005908.3(MANBA): c.1705-13C> A single nucleotide variant Likely benign rs34754408 GRCh38 Chromosome 4, 102650714: 102650714
22 MANBA NM_005908.3(MANBA): c.1705-13C> A single nucleotide variant Likely benign rs34754408 GRCh37 Chromosome 4, 103571871: 103571871
23 MANBA NM_005908.3(MANBA): c.1682C> T (p.Pro561Leu) single nucleotide variant Uncertain significance rs147023714 GRCh38 Chromosome 4, 102657704: 102657704
24 MANBA NM_005908.3(MANBA): c.1682C> T (p.Pro561Leu) single nucleotide variant Uncertain significance rs147023714 GRCh37 Chromosome 4, 103578861: 103578861
25 MANBA NM_005908.3(MANBA): c.1112+8A> C single nucleotide variant Uncertain significance rs752741187 GRCh38 Chromosome 4, 102673911: 102673911
26 MANBA NM_005908.3(MANBA): c.1112+8A> C single nucleotide variant Uncertain significance rs752741187 GRCh37 Chromosome 4, 103595068: 103595068
27 MANBA NM_005908.3(MANBA): c.831A> G (p.Leu277=) single nucleotide variant Benign/Likely benign rs17033168 GRCh38 Chromosome 4, 102690614: 102690614
28 MANBA NM_005908.3(MANBA): c.831A> G (p.Leu277=) single nucleotide variant Benign/Likely benign rs17033168 GRCh37 Chromosome 4, 103611771: 103611771
29 MANBA NM_005908.3(MANBA): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs144917953 GRCh38 Chromosome 4, 102722941: 102722941
30 MANBA NM_005908.3(MANBA): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs144917953 GRCh37 Chromosome 4, 103644098: 103644098
31 MANBA NM_005908.3(MANBA): c.178-8A> G single nucleotide variant Uncertain significance rs113584126 GRCh38 Chromosome 4, 102726691: 102726691
32 MANBA NM_005908.3(MANBA): c.178-8A> G single nucleotide variant Uncertain significance rs113584126 GRCh37 Chromosome 4, 103647848: 103647848
33 MANBA NM_005908.3(MANBA): c.*437A> T single nucleotide variant Uncertain significance rs80064803 GRCh37 Chromosome 4, 103552777: 103552777
34 MANBA NM_005908.3(MANBA): c.*437A> T single nucleotide variant Uncertain significance rs80064803 GRCh38 Chromosome 4, 102631620: 102631620
35 MANBA NM_005908.3(MANBA): c.*384C> T single nucleotide variant Benign rs4019 GRCh37 Chromosome 4, 103552830: 103552830
36 MANBA NM_005908.3(MANBA): c.*384C> T single nucleotide variant Benign rs4019 GRCh38 Chromosome 4, 102631673: 102631673
37 MANBA NM_005908.3(MANBA): c.*317A> G single nucleotide variant Likely benign rs78514870 GRCh37 Chromosome 4, 103552897: 103552897
38 MANBA NM_005908.3(MANBA): c.*317A> G single nucleotide variant Likely benign rs78514870 GRCh38 Chromosome 4, 102631740: 102631740
39 MANBA NM_005908.3(MANBA): c.*314A> G single nucleotide variant Uncertain significance rs886058966 GRCh37 Chromosome 4, 103552900: 103552900
40 MANBA NM_005908.3(MANBA): c.*314A> G single nucleotide variant Uncertain significance rs886058966 GRCh38 Chromosome 4, 102631743: 102631743
41 MANBA NM_005908.3(MANBA): c.*124T> C single nucleotide variant Benign rs3194585 GRCh37 Chromosome 4, 103553090: 103553090
42 MANBA NM_005908.3(MANBA): c.*124T> C single nucleotide variant Benign rs3194585 GRCh38 Chromosome 4, 102631933: 102631933
43 MANBA NM_005908.3(MANBA): c.2351C> G (p.Pro784Arg) single nucleotide variant Likely benign rs116340501 GRCh37 Chromosome 4, 103556009: 103556009
44 MANBA NM_005908.3(MANBA): c.2351C> G (p.Pro784Arg) single nucleotide variant Likely benign rs116340501 GRCh38 Chromosome 4, 102634852: 102634852
45 MANBA NM_005908.3(MANBA): c.2311G> T (p.Val771Phe) single nucleotide variant Uncertain significance rs201779762 GRCh38 Chromosome 4, 102634892: 102634892
46 MANBA NM_005908.3(MANBA): c.2311G> T (p.Val771Phe) single nucleotide variant Uncertain significance rs201779762 GRCh37 Chromosome 4, 103556049: 103556049
47 MANBA NM_005908.3(MANBA): c.2246T> A (p.Leu749His) single nucleotide variant Likely benign rs142248415 GRCh38 Chromosome 4, 102634957: 102634957
48 MANBA NM_005908.3(MANBA): c.2246T> A (p.Leu749His) single nucleotide variant Likely benign rs142248415 GRCh37 Chromosome 4, 103556114: 103556114
49 MANBA NM_005908.3(MANBA): c.2212C> T (p.Arg738Cys) single nucleotide variant Uncertain significance rs763613927 GRCh38 Chromosome 4, 102634991: 102634991
50 MANBA NM_005908.3(MANBA): c.2212C> T (p.Arg738Cys) single nucleotide variant Uncertain significance rs763613927 GRCh37 Chromosome 4, 103556148: 103556148

Expression for Mannosidosis, Beta a, Lysosomal

Search GEO for disease gene expression data for Mannosidosis, Beta a, Lysosomal.

Pathways for Mannosidosis, Beta a, Lysosomal

Pathways related to Mannosidosis, Beta a, Lysosomal according to KEGG:

37
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Lysosome hsa04142

GO Terms for Mannosidosis, Beta a, Lysosomal

Cellular components related to Mannosidosis, Beta a, Lysosomal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 CNP CTSA GAA HEXA MAN2B1 NAGA
2 myelin sheath GO:0043209 9.46 BCL2 CNP MAG MBP
3 lysosome GO:0005764 9.43 CTSA GAA HEXA MAN2B1 MANBA NAGA
4 myelin sheath adaxonal region GO:0035749 9.32 CNP MAG
5 compact myelin GO:0043218 9.26 MAG MBP
6 lysosomal lumen GO:0043202 9.02 CTSA GAA HEXA MAN2B1 MANBA

Biological processes related to Mannosidosis, Beta a, Lysosomal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.67 CTSA GAA MAN2B1 MANBA
2 response to toxic substance GO:0009636 9.5 BCL2 CNP MBP
3 glycosphingolipid metabolic process GO:0006687 9.43 CTSA HEXA
4 substantia nigra development GO:0021762 9.4 CNP MBP
5 metabolic process GO:0008152 9.35 GAA HEXA MAN2B1 MANBA NAGA
6 regulation of mitochondrial membrane permeability GO:0046902 9.26 BCL2 CNP
7 oligosaccharide catabolic process GO:0009313 9.16 MAN2B1 MANBA
8 carbohydrate metabolic process GO:0005975 9.1 GAA HEXA MAN2B1 MANBA MGAT4C NAGA

Molecular functions related to Mannosidosis, Beta a, Lysosomal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.5 CNP CTSA GAA HEXA MAN2B1 MANBA
2 carbohydrate binding GO:0030246 9.43 GAA MAG MAN2B1
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 GAA NAGA
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.02 GAA HEXA MAN2B1 MANBA NAGA

Sources for Mannosidosis, Beta a, Lysosomal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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