MANSB
MCID: MNN019
MIFTS: 51

Mannosidosis, Beta a, Lysosomal (MANSB)

Categories: Bone diseases, Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare 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
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, eye and skin, and related phenotypes are intellectual disability and seizures

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.

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

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.

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)

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 31)
# Related Disease Score Top Affiliating Genes
1 mannosidosis 31.6 MAN2B1 MANBA NAGA
2 angiokeratoma 30.4 CTSA MANBA NAGA
3 lysosomal storage disease 29.8 CTSA GAA HEXA MAN2B1 MANBA
4 fucosidosis 29.7 CTSA GAA HEXA NAGA
5 skin hemangioma 10.2 MANBA NAGA
6 neuraminidase deficiency 10.2 CTSA NAGA
7 neuroaxonal dystrophy 10.1 MBP NAGA
8 gaucher disease, perinatal lethal 10.1 CTSA HEXA
9 mucopolysaccharidosis, type vii 10.1 HEXA MANBA
10 gilles de la tourette syndrome 10.1
11 peripheral nervous system disease 10.1
12 neuropathy 10.1
13 gangliosidosis gm1 10.1 CTSA HEXA
14 glycoproteinosis 10.1 CTSA GAA
15 autoimmune disease of peripheral nervous system 10.0 MAG MBP
16 childhood disintegrative disease 10.0 HEXA MBP
17 spindle cell synovial sarcoma 10.0 MAG MBP
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
19 autosomal dominant cerebellar ataxia 10.0
20 schindler disease 10.0
21 gangliosidosis gm2 10.0 CTSA HEXA NAGA
22 mucolipidosis iv 10.0 CTSA HEXA
23 progressive multifocal leukoencephalopathy 10.0 BCL2 MBP
24 central pontine myelinolysis 10.0 BCL2 MAG MBP
25 internuclear ophthalmoplegia 10.0 HEXA MBP
26 isolated optic neuritis 9.9 CNP MBP
27 scheie syndrome 9.9 CTSA GAA HEXA
28 polyradiculoneuropathy 9.9 MAG MBP
29 krabbe disease 9.9 GAA MBP
30 aspartylglucosaminuria 9.8 CTSA GAA HEXA NAGA
31 mannosidosis, alpha b, lysosomal 9.7 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 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001250
3 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
4 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
5 abnormal facial shape 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001999
6 hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0005247
7 neurological speech impairment 32 HP:0002167
8 abnormality of metabolism/homeostasis 32 HP:0001939
9 angiokeratoma 32 HP:0001014
10 aggressive behavior 32 HP:0000718
11 recurrent infections 32 HP:0002719
12 generalized hypotonia 32 HP:0001290
13 hyperactivity 32 HP:0000752
14 demyelinating peripheral neuropathy 32 occasional (7.5%) HP:0007108
15 tortuosity of conjunctival vessels 32 HP:0000503
16 increased urinary disaccharide excretion 32 HP:0012066

GenomeRNAi Phenotypes related to Mannosidosis, Beta a, Lysosomal according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.23 CDIPT CTSA HEXA MAN2B1 MANBA MBP

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 BCL2 C12orf10 CNP CTSA GAA HEXA
2 growth/size/body region MP:0005378 10.02 BCL2 CDIPT CNP CTSA GAA HEXA
3 hematopoietic system MP:0005397 9.91 BCL2 CNP CTSA MAG MAN2B1 MANBA
4 homeostasis/metabolism MP:0005376 9.9 BCL2 C12orf10 CDIPT CNP CTSA GAA
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, Eye, Skin

Publications for Mannosidosis, Beta a, Lysosomal

Articles related to Mannosidosis, Beta a, Lysosomal:

# Title Authors Year
1
The structure of mammalian β-mannosidase provides insight into β-mannosidosis and Nystagmus. ( 30552791 )
2018
2
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency. ( 16401745 )
2006
3
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency. ( 8859034 )
1996
4
Human beta-mannosidase deficiency associated with peripheral neuropathy. ( 8285582 )
1994
5
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. ( 2079835 )
1990
6
Otic pathology of caprine beta-mannosidosis. ( 3212889 )
1988
7
The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis. ( 4062743 )
1985

Variations for Mannosidosis, Beta a, Lysosomal

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

6 (show top 50) (show all 114)
# Gene Variation Type Significance SNP ID Assembly Location
1 MANBA MANBA, IVS-AS, A-G, -2 single nucleotide variant Pathogenic
2 MANBA NM_005908.3(MANBA): c.960+1G> A single nucleotide variant Pathogenic rs890870104 GRCh37 Chromosome 4, 103610730: 103610730
3 MANBA NM_005908.3(MANBA): c.960+1G> A single nucleotide variant Pathogenic rs890870104 GRCh38 Chromosome 4, 102689573: 102689573
4 MANBA NM_005908.3: c.563_572dupTTAGTTGGGA duplication Pathogenic
5 MANBA MANBA, IVS13AS, G-A, -1 single nucleotide variant Pathogenic
6 MANBA NM_005908.3(MANBA): c.1513T> C (p.Ser505Pro) single nucleotide variant Pathogenic rs121434334 GRCh37 Chromosome 4, 103579030: 103579030
7 MANBA NM_005908.3(MANBA): c.1513T> C (p.Ser505Pro) single nucleotide variant Pathogenic rs121434334 GRCh38 Chromosome 4, 102657873: 102657873
8 MANBA NM_005908.3(MANBA): c.375A> G (p.Arg125=) single nucleotide variant Pathogenic rs771587242 GRCh38 Chromosome 4, 102723865: 102723865
9 MANBA NM_005908.3(MANBA): c.375A> G (p.Arg125=) single nucleotide variant Pathogenic rs771587242 GRCh37 Chromosome 4, 103645022: 103645022
10 MANBA NM_005908.3(MANBA): c.247G> T (p.Glu83Ter) single nucleotide variant Pathogenic rs121434335 GRCh37 Chromosome 4, 103647771: 103647771
11 MANBA NM_005908.3(MANBA): c.247G> T (p.Glu83Ter) single nucleotide variant Pathogenic rs121434335 GRCh38 Chromosome 4, 102726614: 102726614
12 MANBA NM_005908.3(MANBA): c.1276C> T (p.Gln426Ter) single nucleotide variant Pathogenic rs121434336 GRCh37 Chromosome 4, 103590161: 103590161
13 MANBA NM_005908.3(MANBA): c.1276C> T (p.Gln426Ter) single nucleotide variant Pathogenic rs121434336 GRCh38 Chromosome 4, 102669004: 102669004
14 MANBA NM_005908.3: c.1454_1455delAT deletion Pathogenic
15 MANBA NM_005908.3(MANBA): c.2102C> T (p.Thr701Met) single nucleotide variant Benign rs2866413 GRCh37 Chromosome 4, 103557077: 103557077
16 MANBA NM_005908.3(MANBA): c.2102C> T (p.Thr701Met) single nucleotide variant Benign rs2866413 GRCh38 Chromosome 4, 102635920: 102635920
17 MANBA NM_005908.3(MANBA): c.2368T> C (p.Leu790=) single nucleotide variant Benign rs2272697 GRCh37 Chromosome 4, 103555992: 103555992
18 MANBA NM_005908.3(MANBA): c.2368T> C (p.Leu790=) single nucleotide variant Benign rs2272697 GRCh38 Chromosome 4, 102634835: 102634835
19 MANBA NM_005908.3(MANBA): c.*516T> C single nucleotide variant Uncertain significance rs562838260 GRCh38 Chromosome 4, 102631541: 102631541
20 MANBA NM_005908.3(MANBA): c.*516T> C single nucleotide variant Uncertain significance rs562838260 GRCh37 Chromosome 4, 103552698: 103552698
21 MANBA NM_005908.3(MANBA): c.*401G> A single nucleotide variant Benign rs4013 GRCh37 Chromosome 4, 103552813: 103552813
22 MANBA NM_005908.3(MANBA): c.*401G> A single nucleotide variant Benign rs4013 GRCh38 Chromosome 4, 102631656: 102631656
23 MANBA NM_005908.3(MANBA): c.*8T> G single nucleotide variant Uncertain significance rs199881261 GRCh37 Chromosome 4, 103553206: 103553206
24 MANBA NM_005908.3(MANBA): c.*8T> G single nucleotide variant Uncertain significance rs199881261 GRCh38 Chromosome 4, 102632049: 102632049
25 MANBA NM_005908.3(MANBA): c.2296C> T (p.Arg766Trp) single nucleotide variant Uncertain significance rs147428514 GRCh38 Chromosome 4, 102634907: 102634907
26 MANBA NM_005908.3(MANBA): c.2296C> T (p.Arg766Trp) single nucleotide variant Uncertain significance rs147428514 GRCh37 Chromosome 4, 103556064: 103556064
27 MANBA NM_005908.3(MANBA): c.1705-13C> A single nucleotide variant Likely benign rs34754408 GRCh38 Chromosome 4, 102650714: 102650714
28 MANBA NM_005908.3(MANBA): c.1705-13C> A single nucleotide variant Likely benign rs34754408 GRCh37 Chromosome 4, 103571871: 103571871
29 MANBA NM_005908.3(MANBA): c.1682C> T (p.Pro561Leu) single nucleotide variant Uncertain significance rs147023714 GRCh38 Chromosome 4, 102657704: 102657704
30 MANBA NM_005908.3(MANBA): c.1682C> T (p.Pro561Leu) single nucleotide variant Uncertain significance rs147023714 GRCh37 Chromosome 4, 103578861: 103578861
31 MANBA NM_005908.3(MANBA): c.1112+8A> C single nucleotide variant Uncertain significance rs752741187 GRCh38 Chromosome 4, 102673911: 102673911
32 MANBA NM_005908.3(MANBA): c.1112+8A> C single nucleotide variant Uncertain significance rs752741187 GRCh37 Chromosome 4, 103595068: 103595068
33 MANBA NM_005908.3(MANBA): c.831A> G (p.Leu277=) single nucleotide variant Benign/Likely benign rs17033168 GRCh38 Chromosome 4, 102690614: 102690614
34 MANBA NM_005908.3(MANBA): c.831A> G (p.Leu277=) single nucleotide variant Benign/Likely benign rs17033168 GRCh37 Chromosome 4, 103611771: 103611771
35 MANBA NM_005908.3(MANBA): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs144917953 GRCh38 Chromosome 4, 102722941: 102722941
36 MANBA NM_005908.3(MANBA): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs144917953 GRCh37 Chromosome 4, 103644098: 103644098
37 MANBA NM_005908.3(MANBA): c.178-8A> G single nucleotide variant Uncertain significance rs113584126 GRCh38 Chromosome 4, 102726691: 102726691
38 MANBA NM_005908.3(MANBA): c.178-8A> G single nucleotide variant Uncertain significance rs113584126 GRCh37 Chromosome 4, 103647848: 103647848
39 MANBA NM_005908.3(MANBA): c.*437A> T single nucleotide variant Uncertain significance rs80064803 GRCh37 Chromosome 4, 103552777: 103552777
40 MANBA NM_005908.3(MANBA): c.*437A> T single nucleotide variant Uncertain significance rs80064803 GRCh38 Chromosome 4, 102631620: 102631620
41 MANBA NM_005908.3(MANBA): c.*384C> T single nucleotide variant Benign rs4019 GRCh37 Chromosome 4, 103552830: 103552830
42 MANBA NM_005908.3(MANBA): c.*384C> T single nucleotide variant Benign rs4019 GRCh38 Chromosome 4, 102631673: 102631673
43 MANBA NM_005908.3(MANBA): c.*317A> G single nucleotide variant Likely benign rs78514870 GRCh37 Chromosome 4, 103552897: 103552897
44 MANBA NM_005908.3(MANBA): c.*317A> G single nucleotide variant Likely benign rs78514870 GRCh38 Chromosome 4, 102631740: 102631740
45 MANBA NM_005908.3(MANBA): c.*314A> G single nucleotide variant Uncertain significance rs886058966 GRCh37 Chromosome 4, 103552900: 103552900
46 MANBA NM_005908.3(MANBA): c.*314A> G single nucleotide variant Uncertain significance rs886058966 GRCh38 Chromosome 4, 102631743: 102631743
47 MANBA NM_005908.3(MANBA): c.*124T> C single nucleotide variant Benign rs3194585 GRCh37 Chromosome 4, 103553090: 103553090
48 MANBA NM_005908.3(MANBA): c.*124T> C single nucleotide variant Benign rs3194585 GRCh38 Chromosome 4, 102631933: 102631933
49 MANBA NM_005908.3(MANBA): c.-58G> A single nucleotide variant Uncertain significance rs548442432 GRCh38 Chromosome 4, 102760952: 102760952
50 MANBA NM_005908.3(MANBA): c.2351C> G (p.Pro784Arg) single nucleotide variant Likely benign rs116340501 GRCh37 Chromosome 4, 103556009: 103556009

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 myelin sheath GO:0043209 9.46 BCL2 CNP MAG MBP
2 lysosome GO:0005764 9.43 CTSA GAA HEXA MAN2B1 MANBA NAGA
3 myelin sheath adaxonal region GO:0035749 9.32 CNP MAG
4 compact myelin GO:0043218 9.26 MAG MBP
5 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 9.71 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 axon regeneration GO:0031103 9.37 BCL2 MAG
5 carbohydrate metabolic process GO:0005975 9.35 GAA HEXA MAN2B1 MANBA NAGA
6 oligosaccharide catabolic process GO:0009313 9.26 MAN2B1 MANBA
7 regulation of mitochondrial membrane permeability GO:0046902 9.16 BCL2 CNP
8 metabolic process GO:0008152 9.02 GAA HEXA MAN2B1 MANBA 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 9.7 CNP CTSA GAA HEXA MAN2B1 MANBA
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 GAA NAGA
3 carbohydrate binding GO:0030246 9.26 CDIPT GAA MAG MAN2B1
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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