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

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Mannosidosis, Beta:

Name: Mannosidosis, Beta 52 12
Beta-Mannosidosis 11 48 24 25 54 70 39 13 68
Beta-Mannosidase Deficiency 11 48 24 25 54 70
Lysosomal Beta-Mannosidase Deficiency 11 48 25 70 68
 
Mannosidosis, Beta a, Lysosomal 52 48 70
Beta-D-Mannosidosis 11 25 27
Lysosomal Beta a Mannosidosis 25
Mansb 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
mannosidosis, beta:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 248510
Disease Ontology11 DOID:3633
MeSH39 D044905
NCIt45 C84596
Orphanet54 ORPHA118
SNOMED-CT62 238047006
MESH via Orphanet40 D044905
UMLS via Orphanet69 C0342849
ICD10 via Orphanet31 E77.1

Summaries for Mannosidosis, Beta

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UniProtKB/Swiss-Prot:70 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 Array, Array and Array. An important gene associated with Mannosidosis, Beta is MANBA (Mannosidase Beta), and among its related pathways are Lysosomal oligosaccharide catabolism and Globo Sphingolipid Metabolism. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Disease Ontology:11 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:52 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

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Graphical network of diseases related to Mannosidosis, Beta:



Diseases related to mannosidosis, beta

Symptoms & Phenotypes for Mannosidosis, Beta

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Symptoms by clinical synopsis from OMIM:

248510

Clinical features from OMIM:

248510

Human phenotypes related to Mannosidosis, Beta:

 54 64 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment64 54 Very frequent (99-80%) HP:0000365
2 intellectual disability64 54 Very frequent (99-80%) HP:0001249
3 seizures64 54 Very frequent (99-80%) HP:0001250
4 abnormal facial shape64 54 Very frequent (99-80%) HP:0001999
5 recurrent respiratory infections64 54 Very frequent (99-80%) HP:0002205
6 hypoplasia of the abdominal wall musculature64 54 Very frequent (99-80%) HP:0005247
7 tortuosity of conjunctival vessels64 HP:0000503
8 aggressive behavior64 HP:0000718
9 hyperactivity64 HP:0000752
10 angiokeratoma64 HP:0001014
11 muscular hypotonia64 HP:0001252
12 abnormality of metabolism/homeostasis64 HP:0001939
13 neurological speech impairment64 HP:0002167
14 recurrent infections64 HP:0002719
15 demyelinating peripheral neuropathy64 HP:0007108
16 increased urinary disaccharide excretion64 HP:0012066

MGI Mouse Phenotypes related to Mannosidosis, Beta according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6BCL2, HEXA, MAG, MAN2B1, MBP
2MP:00053679.2BCL2, CTBS, CTSA, HEXA, MAN2B1, MANBA
3MP:00053978.1BCL2, CNP, CTBS, CTSA, MAG, MAN2B1
4MP:00053897.7BCL2, CNP, CTSA, HEXA, MANBA, MBP
5MP:00053847.6BCL2, CNP, CTBS, CTSA, GAA, MAN2B1
6MP:00053866.8BCL2, CNP, CTSA, GAA, HEXA, MAG
7MP:00053766.4BCL2, CNP, CTBS, CTSA, GAA, HEXA

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
1Krestin210

Interventional clinical trials:

idNameStatusNCT IDPhase
1Longitudinal Studies of the GlycoproteinosesUnknown statusNCT01891422

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-D-Mannosidosis27
2 Beta-Mannosidosis24 MANBA

Anatomical Context for Mannosidosis, Beta

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MalaCards organs/tissues related to Mannosidosis, Beta:

36
Bone

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, -2SNVPathogenic
2MANBAMANBA, IVS7, A-G, +1SNVPathogenic
3MANBAMANBA, 10-BP INS, NT562insertionPathogenic
4MANBAMANBA, IVS13AS, G-A, -1SNVPathogenic
5MANBANM_ 005908.3(MANBA): c.1513T> C (p.Ser505Pro)SNVPathogenicrs121434334GRCh37Chr 4, 103579030: 103579030
6MANBAMANBA, 375A-GSNVPathogenic
7MANBANM_ 005908.3(MANBA): c.247G> T (p.Glu83Ter)SNVPathogenicrs121434335GRCh37Chr 4, 103647771: 103647771
8MANBANM_ 005908.3(MANBA): c.1276C> T (p.Gln426Ter)SNVPathogenicrs121434336GRCh37Chr 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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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
1lysosomal lumenGO:00432029.4CTSA, GAA, HEXA, MAN2B1, MANBA
2mitochondrial outer membraneGO:00057419.3BCL2, CNP, MAOA
3myelin sheath adaxonal regionGO:00357499.3CNP, MAG
4myelin sheathGO:00432098.8BCL2, CNP, MAG, MBP
5lysosomeGO:00057648.5CTBS, CTSA, GAA, HEXA, MAN2B1, MANBA
6extracellular exosomeGO:00700627.6CNP, CTBS, CTSA, GAA, HEXA, MAN2B1

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

idNameGO IDScoreTop Affiliating Genes
1oligosaccharide catabolic processGO:000931310.0CTBS, MAN2B1, MANBA
2regulation of mitochondrial membrane permeabilityGO:00469029.9BCL2, CNP
3neutrophil degranulationGO:00433129.7CTSA, GAA, MAN2B1, MANBA
4response to toxic substanceGO:00096369.0BCL2, CNP, MBP
5metabolic processGO:00081528.9CTBS, GAA, HEXA, MAN2B1, MANBA, NAGA
6carbohydrate metabolic processGO:00059758.7CTBS, GAA, HEXA, MAN2B1, MANBA, MGAT4C

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

idNameGO IDScoreTop Affiliating Genes
1hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045539.4GAA, MAN2B1, NAGA
2hydrolase activity, acting on glycosyl bondsGO:00167988.6CTBS, GAA, HEXA, MAN2B1, MANBA, NAGA
3hydrolase activityGO:00167877.6CNP, CTBS, CTSA, GAA, HEXA, MAN2B1

Sources for Mannosidosis, Beta

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet