MCID: MNN044
MIFTS: 43

Mannosidosis, Beta malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases categories

Aliases & Classifications for Mannosidosis, Beta

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Sources:
49OMIM, 11diseasecard, 10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 24GTR, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
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Aliases & Descriptions for Mannosidosis, Beta:

Name: Mannosidosis, Beta 49 11
Beta-Mannosidosis 10 45 22 23 12 51 65 36 67
Beta-Mannosidase Deficiency 10 45 22 23 51 67
Lysosomal Beta-Mannosidase Deficiency 10 45 23 65 67
 
Beta-D-Mannosidosis 10 23 24
Mannosidosis, Beta a, Lysosomal 45 67
Lysosomal Beta a Mannosidosis 23
Mansb 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

OMIM49 248510
Disease Ontology10 DOID:3633
MeSH36 D044905
NCIt42 C84596
Orphanet51 118
SNOMED-CT59 238047006
ICD10 via Orphanet28 E77.1
MESH via Orphanet37 D044905
UMLS via Orphanet66 C0342849

Summaries for Mannosidosis, Beta

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UniProtKB/Swiss-Prot:67 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 fucosidosis and lysosomal storage disease, and has symptoms including hearing impairment, seizures and abnormal facial shape. An important gene associated with Mannosidosis, Beta is MANBA (Mannosidase, Beta A, Lysosomal), and among its related pathways are Glycosphingolipid biosynthesis - globo series and Glial Cell Differentiation. Affiliated tissues include bone and eye, and related mouse phenotypes are reproductive system and homeostasis/metabolism.

Disease Ontology:10 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:23 Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.

OMIM:49 Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency... (248510) more...

Related Diseases for Mannosidosis, Beta

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Diseases in the Mannosidosis family:

mannosidosis, beta Mannosidosis, Alpha-, Types I and Ii
Alpha Mannosidosis Type 2 Alpha-Mannosidosis Type 1
Alpha-Mannosidosis, Infantile Form Alpha-Mannosidosis, Adult Form

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

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis29.7CTSA, GAA, HEXA, NAGA
2lysosomal storage disease10.3
3mannosidosis10.3
4angiokeratoma10.3
5thyroiditis10.3
6skin melanoma10.2MANBA, NAGA
7gilles de la tourette syndrome10.2
8neuropathy10.2
9peripheral neuropathy10.2
10mantle cell lymphoma10.1MAN2B1, MANBA, NAGA
11amphetamine abuse10.1MAG, MBP
12spinocerebellar ataxia10.1
13ataxia10.1
14angiolipoma10.1CTSA, MANBA, NAGA
15secondary syphilis10.1MAG, MBP
16farber lipogranulomatosis10.1CTSA, NAGA
17htlv-1 associated myelopathy10.1MAG, MBP
18mucopolysaccharidosis is10.1CTSA, GAA
19spastic paraplegia 2, x-linked10.1MAG, MBP
20optic papillitis10.0MAG, MBP
21mucopolysaccharidosis vii10.0HEXA, MANBA
22aspartylglucosaminuria10.0CTSA, GAA, NAGA
23gastric adenocarcinoma10.0CTSA, HEXA
24neuroendocrine tumor10.0MAG, MBP
25niemann-pick disease, type a9.9CNP, MAG, MBP
26precursor t-lymphoblastic lymphoma/leukemia refractory9.9HEXA, MBP
27multiple sclerosis, disease progression, modifier of9.9CNP, MAG, MBP
28male infertility9.9CTSA, HEXA, MANBA
29gangliosidosis gm29.9CTSA, HEXA
30rubeosis iridis9.8CTSA, HEXA
31graves disease 19.8GAA, HEXA, MBP
32prolidase deficiency9.6CTSA, GAA, HEXA, MAN2B1, MANBA
33mannosidosis, beta8.3CNP, CTSA, GAA, HEXA, MAG, MAN2B1

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



Diseases related to mannosidosis, beta

Symptoms for Mannosidosis, Beta

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Symptoms by clinical synopsis from OMIM:

248510

Clinical features from OMIM:

248510

Symptoms:

 51 (show all 7)
  • facial dysmorphism
  • hearing loss/hypoacusia/deafness
  • absent/hypotonic/flaccid abdominal wall muscles
  • repeat respiratory infections
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance

HPO human phenotypes related to Mannosidosis, Beta:

(show all 20)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 seizures hallmark (90%) HP:0001250
3 abnormal facial shape hallmark (90%) HP:0001999
4 recurrent respiratory infections hallmark (90%) HP:0002205
5 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
6 cognitive impairment hallmark (90%) HP:0100543
7 autosomal recessive inheritance HP:0000007
8 hearing impairment HP:0000365
9 tortuosity of conjunctival vessels HP:0000503
10 aggressive behavior HP:0000718
11 hyperactivity HP:0000752
12 angiokeratoma HP:0001014
13 intellectual disability HP:0001249
14 seizures HP:0001250
15 muscular hypotonia HP:0001252
16 abnormality of metabolism/homeostasis HP:0001939
17 abnormal facial shape HP:0001999
18 neurological speech impairment HP:0002167
19 demyelinating peripheral neuropathy HP:0007108
20 increased urinary disaccharide excretion HP:0012066

Drugs & Therapeutics for Mannosidosis, Beta

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Krestin184

Interventional clinical trials:

idNameStatusNCT IDPhase
1Longitudinal Studies of the GlycoproteinosesRecruitingNCT01891422

Search NIH Clinical Center for Mannosidosis, Beta


Cochrane evidence based reviews: beta-Mannosidosis

Genetic Tests for Mannosidosis, Beta

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Genetic tests related to Mannosidosis, Beta:

id Genetic test Affiliating Genes
1 Beta-Mannosidosis22 MANBA
2 Beta-D-Mannosidosis24

Anatomical Context for Mannosidosis, Beta

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MalaCards organs/tissues related to Mannosidosis, Beta:

33
Bone, Eye

Animal Models for Mannosidosis, Beta or affiliated genes

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MGI Mouse Phenotypes related to Mannosidosis, Beta:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.8CNP, CTSA, HEXA, MANBA, MBP, SYCP3
2MP:00053766.3CNP, CTSA, GAA, HEXA, MAN2B1, MAOA
3MP:00053866.2CNP, CTSA, GAA, HEXA, MAG, MAN2B1

Publications for Mannosidosis, Beta

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Variations for Mannosidosis, Beta

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Clinvar genetic disease variations for Mannosidosis, Beta:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MANBAMANBA, IVS-AS, A-G, -2single nucleotide variantPathogenic
2MANBAMANBA, IVS7, A-G, +1single nucleotide variantPathogenic
3MANBAMANBA, 10-BP INS, NT562insertionPathogenic
4MANBAMANBA, IVS13AS, G-A, -1single nucleotide variantPathogenic
5MANBANM_005908.3(MANBA): c.1513T> C (p.Ser505Pro)single nucleotide variantPathogenicrs121434334GRCh37Chr 4, 103579030: 103579030
6MANBAMANBA, 375A-Gsingle nucleotide variantPathogenic
7MANBANM_005908.3(MANBA): c.247G> T (p.Glu83Ter)single nucleotide variantPathogenicrs121434335GRCh37Chr 4, 103647771: 103647771
8MANBANM_005908.3(MANBA): c.1276C> T (p.Gln426Ter)single nucleotide variantPathogenicrs121434336GRCh37Chr 4, 103590161: 103590161
9MANBAMANBA, 2-BP DEL, 1541ATdeletionPathogenic

Expression for genes affiliated with Mannosidosis, Beta

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

Pathways for genes affiliated with Mannosidosis, Beta

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4HEXA, NAGA
29.1CNP, MAG, MBP
39.1HEXA, MAN2B1, MANBA
47.9CTSA, GAA, HEXA, MAN2B1, MANBA, NAGA

GO Terms for genes affiliated with Mannosidosis, Beta

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

idNameGO IDScoreTop Affiliating Genes
1myelin sheath adaxonal regionGO:003574910.2CNP, MAG
2lysosomal lumenGO:00432029.2CTSA, GAA, HEXA
3myelin sheathGO:00432099.1CNP, MAG, MBP
4lysosomeGO:00057648.7CTSA, GAA, MAN2B1, MANBA, NAGA
5extracellular exosomeGO:00700627.3CNP, CTSA, GAA, HEXA, MAN2B1, NAGA

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

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid metabolic processGO:00066879.5CTSA, HEXA
2substantia nigra developmentGO:00217629.4CNP, MAG, MBP
3carbohydrate metabolic processGO:00059758.0GAA, HEXA, MAN2B1, MANBA, MGAT4C, NAGA

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

idNameGO IDScoreTop Affiliating Genes
1mannose bindingGO:00055379.6MAN2B1, MANBA
2carbohydrate bindingGO:00302469.2GAA, MAG, MAN2B1
3hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045538.3GAA, HEXA, MAN2B1, MANBA, NAGA

Sources for Mannosidosis, Beta

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet