MCID: MNN044
MIFTS: 30

Mannosidosis, Beta malady

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

Summaries for Mannosidosis, Beta

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OMIM:45 Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency... (248510) more...

MalaCards based summary: Mannosidosis, Beta, also known as beta-mannosidosis, is related to lysosomal storage disease and mannosidosis, and has symptoms including hearing impairment, seizures and abnormal facial shape. An important gene associated with Mannosidosis, Beta is MANBA (mannosidase, beta A, lysosomal). Affiliated tissues include bone.

Disease Ontology:9 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:21 Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.

Aliases & Classifications for Mannosidosis, Beta

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Sources:
45OMIM, 10diseasecard, 9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 60UMLS, 22GTR, 38NCIt, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Mannosidosis, Beta, Aliases & Descriptions:

Name: Mannosidosis, Beta 45 10
Beta-Mannosidosis 9 41 20 21 11 47 60
Lysosomal Beta-Mannosidase Deficiency 9 41 21 60
Beta-Mannosidase Deficiency 9 41 21 47
 
Beta-D-Mannosidosis 9 21 22
Mannosidosis, Beta a, Lysosomal 41
Lysosomal Beta a Mannosidosis 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
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:

OMIM45 248510
Disease Ontology9 DOID:3633
NCIt38 C84596
MeSH33 D044905
SNOMED-CT55 238047006
Orphanet47 118
MESH via Orphanet34 D044905
ICD10 via Orphanet26 E77.1
UMLS via Orphanet61 C0342849

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:

idRelated DiseaseScoreTop Affiliating Genes
1lysosomal storage disease10.3
2mannosidosis10.3
3angiokeratoma10.3
4thyroiditis10.3
5gilles de la tourette syndrome10.2
6neuropathy10.2
7peripheral neuropathy10.2
8fucosidosis10.1
9spinocerebellar ataxia10.1
10ataxia10.1

Graphical network of 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:

 47 (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 21)
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 recurrent infections HP:0002719
20 demyelinating peripheral neuropathy HP:0007108
21 increased urinary disaccharide excretion HP:0012066

Drugs & Therapeutics for Mannosidosis, Beta

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Drug clinical trials:

Search ClinicalTrials for Mannosidosis, Beta

Search NIH Clinical Center for Mannosidosis, Beta

Genetic Tests for Mannosidosis, Beta

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Genetic tests related to Mannosidosis, Beta:

id Genetic test Affiliating Genes
1 Beta-Mannosidosis20 MANBA
2 Beta-D-Mannosidosis22

Anatomical Context for Mannosidosis, Beta

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MalaCards organs/tissues related to Mannosidosis, Beta:

31
Bone

Animal Models for Mannosidosis, Beta or affiliated genes

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Publications for Mannosidosis, Beta

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Variations for Mannosidosis, Beta

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Clinvar genetic disease variations for Mannosidosis, Beta:

6
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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Compounds for genes affiliated with Mannosidosis, Beta

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GO Terms for genes affiliated with Mannosidosis, Beta

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Products for genes affiliated with Mannosidosis, Beta

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mannosidosis, Beta

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet