MANSB
MCID: MNN044
MIFTS: 44

Mannosidosis, Beta (MANSB) malady

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

Aliases & Classifications for Mannosidosis, Beta

Aliases & Descriptions for Mannosidosis, Beta:

Name: Mannosidosis, Beta 54 13
Beta-Mannosidosis 12 50 24 25 56 66 42 14 69
Beta-Mannosidase Deficiency 12 50 24 25 56 66
Lysosomal Beta-Mannosidase Deficiency 12 50 25 66 69
Mannosidosis, Beta a, Lysosomal 54 50 66
Beta-D-Mannosidosis 12 25 29
Lysosomal Beta a Mannosidosis 25
Mansb 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
mannosidosis, beta:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 248510
Disease Ontology 12 DOID:3633
MeSH 42 D044905
NCIt 47 C84596
SNOMED-CT 64 238047006
Orphanet 56 ORPHA118
MESH via Orphanet 43 D044905
UMLS via Orphanet 70 C0342849
ICD10 via Orphanet 34 E77.1
UMLS 69 C4048196

Summaries for Mannosidosis, Beta

UniProtKB/Swiss-Prot : 66 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, also known as beta-mannosidosis, is related to mannosidosis and intracranial hypotension, and has symptoms including seizures, intellectual disability and hearing impairment. An important gene associated with Mannosidosis, Beta is MANBA (Mannosidase Beta), and among its related pathways/superpathways are MECP2 and Associated Rett Syndrome and Lysosome. The drug Krestin has been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are behavior/neurological and cellular

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.

OMIM : 54 Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency... (248510) more...

Wikipedia : 71 Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide... more...

Related Diseases for Mannosidosis, Beta

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



Diseases related to Mannosidosis, Beta

Symptoms & Phenotypes for Mannosidosis, Beta

Symptoms by clinical synopsis from OMIM:

248510

Clinical features from OMIM:

248510

Human phenotypes related to Mannosidosis, Beta:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Very frequent (99-80%) HP:0001250
2 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
3 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
4 recurrent respiratory infections 56 32 Very frequent (99-80%) HP:0002205
5 abnormal facial shape 56 32 Very frequent (99-80%) HP:0001999
6 hypoplasia of the abdominal wall musculature 56 32 Very frequent (99-80%) HP:0005247
7 muscular hypotonia 32 HP:0001252
8 neurological speech impairment 32 HP:0002167
9 abnormality of metabolism/homeostasis 32 HP:0001939
10 angiokeratoma 32 HP:0001014
11 recurrent infections 32 HP:0002719
12 aggressive behavior 32 HP:0000718
13 hyperactivity 32 HP:0000752
14 demyelinating peripheral neuropathy 32 HP:0007108
15 tortuosity of conjunctival vessels 32 HP:0000503
16 increased urinary disaccharide excretion 32 HP:0012066

MGI Mouse Phenotypes related to Mannosidosis, Beta:

44
id 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 10.02 CTSA GAA MAN2B1 MANBA MBP SERPINB5
3 homeostasis/metabolism MP:0005376 9.9 BCL2 CNP CTBS CTSA GAA HEXA
4 hematopoietic system MP:0005397 9.86 MAN2B1 MANBA BCL2 CNP CTBS CTSA
5 hearing/vestibular/ear MP:0005377 9.72 BCL2 HEXA MAG MAN2B1 MBP
6 renal/urinary system MP:0005367 9.43 BCL2 CTBS CTSA HEXA MAN2B1 MANBA
7 reproductive system MP:0005389 9.17 BCL2 CNP CTSA HEXA MANBA MBP

Drugs & Therapeutics for Mannosidosis, Beta

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


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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422

Search NIH Clinical Center for Mannosidosis, Beta

Cochrane evidence based reviews: beta-mannosidosis

Genetic Tests for Mannosidosis, Beta

Genetic tests related to Mannosidosis, Beta:

id Genetic test Affiliating Genes
1 Beta-D-Mannosidosis 29
2 Beta-Mannosidosis 24 MANBA

Anatomical Context for Mannosidosis, Beta

MalaCards organs/tissues related to Mannosidosis, Beta:

39
Bone

Publications for Mannosidosis, Beta

Variations for Mannosidosis, Beta

ClinVar genetic disease variations for Mannosidosis, Beta:

6
id 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 MANBA, 375A-G single nucleotide variant Pathogenic
7 MANBA NM_005908.3(MANBA): c.247G> T (p.Glu83Ter) single nucleotide variant Pathogenic rs121434335 GRCh37 Chromosome 4, 103647771: 103647771
8 MANBA NM_005908.3(MANBA): c.1276C> T (p.Gln426Ter) single nucleotide variant Pathogenic rs121434336 GRCh37 Chromosome 4, 103590161: 103590161
9 MANBA MANBA, 2-BP DEL, 1541AT deletion Pathogenic

Expression for Mannosidosis, Beta

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

Pathways for Mannosidosis, Beta

Pathways related to Mannosidosis, Beta according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.29 CNP MAG MBP
2 11.19 CTSA GAA HEXA MAN2B1 MANBA NAGA
3
Show member pathways
10.94 HEXA NAGA
4 10.59 HEXA MAN2B1 MANBA
5 10.03 CNP MAG MBP
6 9.96 MAN2B1 MANBA

GO Terms for Mannosidosis, Beta

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.92 CNP CTBS CTSA GAA HEXA MAN2B1
2 mitochondrial outer membrane GO:0005741 9.54 BCL2 CNP MAOA
3 myelin sheath GO:0043209 9.46 BCL2 CNP MAG MBP
4 lysosomal lumen GO:0043202 9.35 CTSA GAA HEXA MAN2B1 MANBA
5 myelin sheath adaxonal region GO:0035749 9.26 CNP MAG
6 lysosome GO:0005764 9.17 CTBS CTSA GAA HEXA MAN2B1 MANBA

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

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.67 CTSA GAA MAN2B1 MANBA
2 metabolic process GO:0008152 9.63 CTBS GAA HEXA MAN2B1 MANBA NAGA
3 response to toxic substance GO:0009636 9.5 BCL2 CNP MBP
4 regulation of mitochondrial membrane permeability GO:0046902 9.26 BCL2 CNP
5 carbohydrate metabolic process GO:0005975 9.17 CTBS GAA HEXA MAN2B1 MANBA MGAT4C
6 oligosaccharide catabolic process GO:0009313 9.13 CTBS MAN2B1 MANBA

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.76 CNP CTBS CTSA GAA HEXA MAN2B1
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.13 GAA MAN2B1 NAGA
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.1 CTBS GAA HEXA MAN2B1 MANBA NAGA

Sources for Mannosidosis, Beta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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