MCID: MNN044
MIFTS: 42

Mannosidosis, Beta 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:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Mannosidosis, Beta:

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

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

HPO:

61
mannosidosis, beta:
Inheritance: autosomal recessive inheritance


Classifications:



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
UMLS65 C0342849, C2931893

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 gastric neuroendocrine neoplasm and xanthomatosis, and has symptoms including cognitive impairment, aplasia/hypoplasia of the abdominal wall musculature and recurrent respiratory infections. An important gene associated with Mannosidosis, Beta is MANBA (Mannosidase Beta), 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 top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1gastric neuroendocrine neoplasm10.3MANBA, NAGA
2xanthomatosis10.3CTSA, NAGA
3adenocarcinoma10.3
4neuronitis10.3
5peritonitis10.3
6mantle cell lymphoma10.2MAN2B1, MANBA, NAGA
7spotted fever10.2
8endotheliitis10.2
9medulloepithelioma10.2CTSA, MANBA, NAGA
10spinal muscular atrophy with progressive myoclonic epilepsy10.1CTSA, NAGA
11myocardial infarction10.1
12prostate cancer10.1
13holt-oram syndrome10.1
14insulin-like growth factor i10.1
15peutz-jeghers syndrome10.1
16menkes disease10.1
17nephrogenic syndrome of inappropriate antidiuresis10.1
18lipoma10.1
19acute myocardial infarction10.1
20charcot-marie-tooth disease10.1
21follicular lymphoma10.1
22colon adenoma10.1
23mucosal melanoma10.1
24lymphoma10.1
25nasopharyngitis10.1
26tooth disease10.1
27pericardial effusion10.1
28esophagitis10.1
29chagas disease10.1
30gynecomastia10.1
31leiomyoma10.1
32patent foramen ovale10.1
33down syndrome10.1
34dracunculiasis10.1
35neuronal ceroid lipofuscinosis10.1
36hypothyroidism10.1
37prostatitis10.1
38melanoma10.1
39intestinal perforation10.1
40colon adenocarcinoma10.1
41basal cell carcinoma10.1
42cervicitis10.1
43teratoma10.1
44purpura10.1
45hidradenoma10.1
46pancreatitis10.1
47acquired immunodeficiency syndrome10.1
48adenoma10.1
49thyroiditis10.1
50mediastinitis10.1

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

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
1Krestin189

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

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:00053766.2CNP, CTSA, GAA, HEXA, MAG, MAN2B1
3MP:00053865.9CNP, 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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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
1lysosomeGO:00057649.6CTSA, MAN2B1, MANBA

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

idNameGO IDScoreTop Affiliating Genes
1cellular protein modification processGO:00064649.9MAN2B1, MANBA
2substantia nigra developmentGO:00217629.7MAG, MBP
3glycosphingolipid metabolic processGO:00066879.5CTSA, HEXA

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