MANSB
MCID: MNN019
MIFTS: 49

Mannosidosis, Beta a, Lysosomal (MANSB)

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

Aliases & Classifications for Mannosidosis, Beta a, Lysosomal

MalaCards integrated aliases for Mannosidosis, Beta a, Lysosomal:

Name: Mannosidosis, Beta a, Lysosomal 57 20 72
Beta-Mannosidosis 57 12 73 20 43 58 72 36 44 15 70
Lysosomal Beta-Mannosidase Deficiency 57 12 73 20 43 72 70
Beta-Mannosidase Deficiency 57 12 20 43 58 72
Beta-D-Mannosidosis 12 43 29 6
Mannosidosis, Beta 57 13 39
Mansb 57 72
Lysosomal Beta a Mannosidosis 43

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
mannosidosis, beta a, lysosomal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:3633
OMIM® 57 248510
KEGG 36 H00140
MeSH 44 D044905
NCIt 50 C84596
SNOMED-CT 67 238047006
MESH via Orphanet 45 D044905
ICD10 via Orphanet 33 E77.1
UMLS via Orphanet 71 C0342849 C2931893
Orphanet 58 ORPHA118
UMLS 70 C2931893 C4048196

Summaries for Mannosidosis, Beta a, Lysosomal

MedlinePlus Genetics : 43 Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be extremely introverted, prone to depression, or have behavioral problems such as hyperactivity, impulsivity or aggression.People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial features and clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas).

MalaCards based summary : Mannosidosis, Beta a, Lysosomal, also known as beta-mannosidosis, is related to lysosomal storage disease and mannosidosis, alpha b, lysosomal. An important gene associated with Mannosidosis, Beta a, Lysosomal is MANBA (Mannosidase Beta), and among its related pathways/superpathways are Other glycan degradation and Lysosome. The drug polysaccharide-K has been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and thyroid, and related phenotypes are intellectual disability and hearing impairment

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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 118 Definition Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

OMIM® : 57 Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease (Bedilu et al., 2002) The disorder was first described in goats (Jones and Dawson, 1981), who have a more severe neurodegenerative disorder than that seen in humans. (248510) (Updated 20-May-2021)

KEGG : 36 Beta-Mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-mannosidase. This disorder is characterized by mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide... more...

Related Diseases for Mannosidosis, Beta a, Lysosomal

Diseases in the Mannosidosis, Beta a, Lysosomal family:

Mannosidosis, Alpha B, Lysosomal

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 lysosomal storage disease 30.6 MANBA MAN2B1 HGSNAT
2 mannosidosis, alpha b, lysosomal 29.6 MANBA MAN2B1 MAN2A1 CTBS
3 autosomal recessive disease 10.3
4 tremor 10.3
5 branchiootic syndrome 1 10.2
6 angiokeratoma 10.2
7 pathologic nystagmus 10.1
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
9 hypotonia 10.1
10 graft-versus-host disease 10.0
11 mucopolysaccharidosis, type vii 10.0 MANBA HGSNAT
12 bronchopneumonia 10.0
13 tic disorder 10.0
14 peripheral nervous system disease 10.0
15 inherited metabolic disorder 10.0
16 neuropathy 10.0
17 encephalopathy 10.0
18 fabry disease 10.0
19 attention deficit-hyperactivity disorder 10.0
20 gilles de la tourette syndrome 10.0
21 sandhoff disease 9.9 MAN2B1 CTBS
22 congenital disorder of glycosylation, type iib 9.9 MANEA ALG12
23 ataxia and polyneuropathy, adult-onset 9.9
24 alacrima, achalasia, and mental retardation syndrome 9.9
25 mucopolysaccharidosis-plus syndrome 9.9
26 hydrocephalus 9.9
27 horner's syndrome 9.9
28 polyneuropathy 9.9
29 autosomal dominant cerebellar ataxia 9.9
30 demyelinating polyneuropathy 9.9
31 achalasia 9.9
32 speech disorder 9.9
33 schindler disease 9.9
34 spasticity 9.9
35 pseudoxanthoma elasticum 9.9
36 mucopolysaccharidosis, type iiia 9.9
37 fucosidosis 9.9

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



Diseases related to Mannosidosis, Beta a, Lysosomal

Symptoms & Phenotypes for Mannosidosis, Beta a, Lysosomal

Human phenotypes related to Mannosidosis, Beta a, Lysosomal:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
3 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
4 abnormal facial shape 58 31 occasional (7.5%) Very frequent (99-80%) HP:0001999
5 hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0005247
6 seizure 31 occasional (7.5%) HP:0001250
7 demyelinating peripheral neuropathy 31 occasional (7.5%) HP:0007108
8 seizures 58 Very frequent (99-80%)
9 neurological speech impairment 31 HP:0002167
10 angiokeratoma 31 HP:0001014
11 abnormality of metabolism/homeostasis 31 HP:0001939
12 recurrent infections 31 HP:0002719
13 aggressive behavior 31 HP:0000718
14 hyperactivity 31 HP:0000752
15 generalized hypotonia 31 HP:0001290
16 tortuosity of conjunctival vessels 31 HP:0000503
17 increased urinary disaccharide excretion 31 HP:0012066

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
angiokeratoma

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggression

Cardiovascular Vascular:
tortuosity of conjunctival vessels

Head And Neck Ears:
deafness

Skin Nails Hair Skin Histology:
cytoplasmic vacuolization

Neurologic Peripheral Nervous System:
demyelinating peripheral neuropathy, progressive (rare)

Immunology:
recurrent infections

Head And Neck Eyes:
tortuosity of conjunctival vessels

Neurologic Central Nervous System:
hypotonia
mental retardation
seizures (rare)
speech impairment
gilles de la tourette syndrome (reported in 1 patient)

Head And Neck Face:
mild facial dysmorphism may occur

Muscle Soft Tissue:
thenar amyotrophy (rare)

Laboratory Abnormalities:
decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes
increased urinary disaccharides (mannosyl-n-acetylglucosamine)

Clinical features from OMIM®:

248510 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Mannosidosis, Beta a, Lysosomal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.1 CTBS HGSNAT KATNB1 MAN2A1 MAN2B1 MANBA

Drugs & Therapeutics for Mannosidosis, Beta a, Lysosomal

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 polysaccharide-K

Interventional clinical trials:


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

Search NIH Clinical Center for Mannosidosis, Beta a, Lysosomal

Cochrane evidence based reviews: beta-mannosidosis

Genetic Tests for Mannosidosis, Beta a, Lysosomal

Genetic tests related to Mannosidosis, Beta a, Lysosomal:

# Genetic test Affiliating Genes
1 Beta-D-Mannosidosis 29 MANBA

Anatomical Context for Mannosidosis, Beta a, Lysosomal

MalaCards organs/tissues related to Mannosidosis, Beta a, Lysosomal:

40
Eye, Kidney, Thyroid, Brain, Skin

Publications for Mannosidosis, Beta a, Lysosomal

Articles related to Mannosidosis, Beta a, Lysosomal:

(show top 50) (show all 109)
# Title Authors PMID Year
1
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations. 6 61 57
18565776 2008
2
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency. 57 6 61
16401745 2006
3
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. 6 57 61
12468273 2002
4
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. 61 57 6
9384606 1998
5
Human beta-mannosidosis: a 3-year-old boy with speech impairment and emotional instability. 6 57 61
1623631 1992
6
Beta-mannosidosis and ethanolaminuria in a female patient. 61 6 57
1499588 1992
7
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. 57 6 61
2079835 1990
8
Human beta-mannosidase deficiency. 57 6
3762648 1986
9
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant. 61 6
19728872 2009
10
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. 61 6
17420068 2007
11
Molecular analysis in two beta-mannosidosis patients: description of a new adult case. 6 61
16904924 2006
12
Beta-mannosidosis mice: a model for the human lysosomal storage disease. 57 61
16377659 2006
13
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. 61 6
12890191 2003
14
Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis. 61 57
8921369 1996
15
Human beta-mannosidase deficiency associated with peripheral neuropathy. 61 57
8285582 1994
16
Animal model of human disease. Bovine beta-mannosidosis. 57 61
8456950 1993
17
Beta-mannosidosis in two brothers with hearing loss. 61 57
3141715 1988
18
Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine. 61 57
3128685 1988
19
Caprine beta-mannosidosis: clinical and pathological features. 57 61
6842266 1983
20
Distribution of central nervous system lesions in beta-mannosidosis. 57 61
6659869 1983
21
Beta-mannosidosis: lesions of the distal peripheral nervous system. 61 57
6637401 1983
22
Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase. 61 57
7228876 1981
23
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. 6
30872814 2019
24
A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation. 6
22369051 2011
25
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency. 57
8859034 1996
26
beta-mannosidase deficiency in a female infant with epileptic encephalopathy. 57
1861456 1991
27
Human beta-mannosidase deficiency. 57
2945113 1986
28
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant. 61
32847582 2020
29
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. 61
31115173 2019
30
Beta-mannosidosis: a new cause of spinocerebellar ataxia. 61
18980795 2009
31
Molecular cloning and structural organization of the gene encoding the mouse lysosomal di-N-acetylchitobiase (ctbs). 61
18440730 2008
32
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. 61
17694356 2007
33
Beta-mannosidosis with angiokeratoma corporis diffusum. 61
15729869 2004
34
Mouse beta-mannosidase: cDNA cloning, expression, and chromosomal localization. 61
11892998 2001
35
Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes. 61
10594236 1999
36
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. 61
10571005 1999
37
[Beta-mannosidosis]. 61
9645109 1998
38
Biochemical and morphological expression of early prenatal caprine beta-mannosidosis. 61
9203214 1997
39
[Beta mannosidosis: a new case]. 61
9097826 1997
40
The mannosidoses and ceroid-lipofuscinoses: experimental studies on two types of storage disease. 61
9094178 1997
41
mRNA levels for central nervous system myelin proteins in myelin deficiency of caprine beta-mannosidosis. 61
8821484 1996
42
[Lysosomal storage diseases with angiokeratoma corporis diffusum]. 61
8577059 1995
43
[Disorders of glycoprotein degradation]. 61
8577045 1995
44
Development and efficacy of ultrasound-guided fetal fluid aspiration techniques for prenatal diagnosis of caprine beta-mannosidosis. 61
16727750 1995
45
[Beta-D-mannosidase]. 61
7583460 1995
46
Molecular cloning and characterization of bovine beta-mannosidase. 61
7876128 1995
47
Mammalian alpha-mannosidases--multiple forms but a common purpose? 61
7881169 1994
48
HPLC analysis of oligosaccharides in urine from oligosaccharidosis patients. 61
8087986 1994
49
Biochemical and histochemical analysis of lysosomal enzyme activities in caprine beta-mannosidosis. 61
8179772 1994
50
Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle. 61
8293984 1993

Variations for Mannosidosis, Beta a, Lysosomal

ClinVar genetic disease variations for Mannosidosis, Beta a, Lysosomal:

6 (show top 50) (show all 119)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MANBA MANBA, IVS-AS, A-G, -2 SNV Pathogenic 1675 GRCh37:
GRCh38:
2 MANBA NM_005908.4(MANBA):c.960+1G>A SNV Pathogenic 1676 rs890870104 GRCh37: 4:103610730-103610730
GRCh38: 4:102689573-102689573
3 MANBA MANBA, IVS13AS, G-A, -1 SNV Pathogenic 1678 GRCh37:
GRCh38:
4 MANBA NM_005908.4(MANBA):c.1513T>C (p.Ser505Pro) SNV Pathogenic 1679 rs121434334 GRCh37: 4:103579030-103579030
GRCh38: 4:102657873-102657873
5 MANBA NM_005908.4(MANBA):c.375A>G (p.Arg125=) SNV Pathogenic 1680 rs771587242 GRCh37: 4:103645022-103645022
GRCh38: 4:102723865-102723865
6 MANBA NM_005908.4(MANBA):c.247G>T (p.Glu83Ter) SNV Pathogenic 1681 rs121434335 GRCh37: 4:103647771-103647771
GRCh38: 4:102726614-102726614
7 MANBA NM_005908.4(MANBA):c.1276C>T (p.Gln426Ter) SNV Pathogenic 1682 rs121434336 GRCh37: 4:103590161-103590161
GRCh38: 4:102669004-102669004
8 MANBA NM_005908.4(MANBA):c.563_572dup (p.Trp192_Gly193insTer) Duplication Pathogenic 1677 rs752343321 GRCh37: 4:103635695-103635696
GRCh38: 4:102714538-102714539
9 MANBA NM_005908.4(MANBA):c.693G>A (p.Trp231Ter) SNV Pathogenic 632877 rs763849774 GRCh37: 4:103611909-103611909
GRCh38: 4:102690752-102690752
10 MANBA NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter) SNV Pathogenic 929155 GRCh37: 4:103585929-103585929
GRCh38: 4:102664772-102664772
11 MANBA NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) Deletion Pathogenic 1683 rs1188116333 GRCh37: 4:103585872-103585873
GRCh38: 4:102664715-102664716
12 MANBA NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) Deletion Pathogenic 542166 rs775574131 GRCh37: 4:103579002-103579003
GRCh38: 4:102657845-102657846
13 MANBA NM_005908.4(MANBA):c.2158-2A>G SNV Pathogenic 590928 rs772852668 GRCh37: 4:103556204-103556204
GRCh38: 4:102635047-102635047
14 MANBA NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) SNV Likely pathogenic 594436 rs771865668 GRCh37: 4:103578921-103578921
GRCh38: 4:102657764-102657764
15 MANBA NM_005908.4(MANBA):c.1922G>A (p.Arg641His) SNV Likely pathogenic 975740 GRCh37: 4:103560962-103560962
GRCh38: 4:102639805-102639805
16 MANBA NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter) SNV Likely pathogenic 444636 rs1553945794 GRCh37: 4:103590201-103590201
GRCh38: 4:102669044-102669044
17 MANBA NM_005908.4(MANBA):c.1318-1G>T SNV Likely pathogenic 446030 rs374545788 GRCh37: 4:103586010-103586010
GRCh38: 4:102664853-102664853
18 MANBA NM_005908.4(MANBA):c.177+2T>C SNV Likely pathogenic 1028959 GRCh37: 4:103681873-103681873
GRCh38: 4:102760716-102760716
19 MANBA NM_005908.4(MANBA):c.2191G>A (p.Val731Met) SNV Conflicting interpretations of pathogenicity 779672 rs150554352 GRCh37: 4:103556169-103556169
GRCh38: 4:102635012-102635012
20 MANBA NM_005908.4(MANBA):c.531T>C (p.His177=) SNV Conflicting interpretations of pathogenicity 347097 rs149902075 GRCh37: 4:103644046-103644046
GRCh38: 4:102722889-102722889
21 MANBA NM_005908.4(MANBA):c.961-8C>A SNV Uncertain significance 347094 rs886058969 GRCh37: 4:103595235-103595235
GRCh38: 4:102674078-102674078
22 MANBA NM_005908.4(MANBA):c.*8T>G SNV Uncertain significance 347076 rs199881261 GRCh37: 4:103553206-103553206
GRCh38: 4:102632049-102632049
23 MANBA NM_005908.4(MANBA):c.*172G>A SNV Uncertain significance 347073 rs146374185 GRCh37: 4:103553042-103553042
GRCh38: 4:102631885-102631885
24 MANBA NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) SNV Uncertain significance 347079 rs367692761 GRCh37: 4:103553416-103553416
GRCh38: 4:102632259-102632259
25 MANBA NM_005908.4(MANBA):c.*314A>G SNV Uncertain significance 347071 rs886058966 GRCh37: 4:103552900-103552900
GRCh38: 4:102631743-102631743
26 MANBA NM_005908.4(MANBA):c.1953G>A (p.Thr651=) SNV Uncertain significance 347086 rs886058968 GRCh37: 4:103560931-103560931
GRCh38: 4:102639774-102639774
27 MANBA NM_005908.4(MANBA):c.590C>G (p.Pro197Arg) SNV Uncertain significance 522705 rs1553951373 GRCh37: 4:103635678-103635678
GRCh38: 4:102714521-102714521
28 MANBA NM_005908.4(MANBA):c.378+1G>A SNV Uncertain significance 585124 rs142029636 GRCh37: 4:103645018-103645018
GRCh38: 4:102723861-102723861
29 MANBA NM_005908.4(MANBA):c.2415+1G>C SNV Uncertain significance 631932 rs1284324018 GRCh37: 4:103555944-103555944
GRCh38: 4:102634787-102634787
30 MANBA NC_000004.12:g.(?_102650517)_(102726703_?)del Deletion Uncertain significance 832905 GRCh37: 4:103571674-103647860
GRCh38:
31 MANBA NM_005908.4(MANBA):c.2201G>A (p.Arg734His) SNV Uncertain significance 859480 GRCh37: 4:103556159-103556159
GRCh38: 4:102635002-102635002
32 MANBA NM_005908.4(MANBA):c.1477G>A (p.Val493Ile) SNV Uncertain significance 347092 rs561172083 GRCh37: 4:103585850-103585850
GRCh38: 4:102664693-102664693
33 MANBA NM_005908.4(MANBA):c.2311G>T (p.Val771Phe) SNV Uncertain significance 347082 rs201779762 GRCh37: 4:103556049-103556049
GRCh38: 4:102634892-102634892
34 MANBA NM_005908.4(MANBA):c.2389G>A (p.Val797Met) SNV Uncertain significance 347080 rs747236675 GRCh37: 4:103555971-103555971
GRCh38: 4:102634814-102634814
35 MANBA NM_005908.4(MANBA):c.479G>A (p.Arg160His) SNV Uncertain significance 347098 rs144917953 GRCh37: 4:103644098-103644098
GRCh38: 4:102722941-102722941
36 MANBA NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys) SNV Uncertain significance 347085 rs763613927 GRCh37: 4:103556148-103556148
GRCh38: 4:102634991-102634991
37 MANBA NM_005908.4(MANBA):c.1112+8A>C SNV Uncertain significance 347093 rs752741187 GRCh37: 4:103595068-103595068
GRCh38: 4:102673911-102673911
38 MANBA NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr) SNV Uncertain significance 347078 rs182869272 GRCh37: 4:103553381-103553381
GRCh38: 4:102632224-102632224
39 MANBA NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala) SNV Uncertain significance 347090 rs778853902 GRCh37: 4:103579021-103579021
GRCh38: 4:102657864-102657864
40 MANBA NM_005908.4(MANBA):c.*184A>G SNV Uncertain significance 347072 rs886058967 GRCh37: 4:103553030-103553030
GRCh38: 4:102631873-102631873
41 MANBA NM_005908.4(MANBA):c.1072A>G (p.Ile358Val) SNV Uncertain significance 900300 GRCh37: 4:103595116-103595116
GRCh38: 4:102673959-102673959
42 MANBA NM_005908.4(MANBA):c.746G>A (p.Gly249Asp) SNV Uncertain significance 900302 GRCh37: 4:103611856-103611856
GRCh38: 4:102690699-102690699
43 MANBA NM_005908.4(MANBA):c.492C>T (p.Pro164=) SNV Uncertain significance 900303 GRCh37: 4:103644085-103644085
GRCh38: 4:102722928-102722928
44 MANBA NM_005908.4(MANBA):c.*503G>C SNV Uncertain significance 901344 GRCh37: 4:103552711-103552711
GRCh38: 4:102631554-102631554
45 MANBA NM_005908.4(MANBA):c.*447G>A SNV Uncertain significance 901345 GRCh37: 4:103552767-103552767
GRCh38: 4:102631610-102631610
46 MANBA NM_005908.4(MANBA):c.2269T>C (p.Leu757=) SNV Uncertain significance 901397 GRCh37: 4:103556091-103556091
GRCh38: 4:102634934-102634934
47 MANBA NM_005908.4(MANBA):c.2115T>C (p.Tyr705=) SNV Uncertain significance 901398 GRCh37: 4:103557064-103557064
GRCh38: 4:102635907-102635907
48 MANBA NM_005908.4(MANBA):c.111G>T (p.Ser37=) SNV Uncertain significance 901456 GRCh37: 4:103681941-103681941
GRCh38: 4:102760784-102760784
49 MANBA NM_005908.4(MANBA):c.77G>A (p.Arg26His) SNV Uncertain significance 901457 GRCh37: 4:103681975-103681975
GRCh38: 4:102760818-102760818
50 MANBA NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys) SNV Uncertain significance 901458 GRCh37: 4:103681984-103681984
GRCh38: 4:102760827-102760827

UniProtKB/Swiss-Prot genetic disease variations for Mannosidosis, Beta a, Lysosomal:

72
# Symbol AA change Variation ID SNP ID
1 MANBA p.Arg182Trp VAR_081392 rs374377679
2 MANBA p.Gly392Glu VAR_081393
3 MANBA p.Ser505Pro VAR_081395 rs121434334

Expression for Mannosidosis, Beta a, Lysosomal

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

Pathways for Mannosidosis, Beta a, Lysosomal

Pathways related to Mannosidosis, Beta a, Lysosomal according to KEGG:

36
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1 11.44 MANBA MAN2B1 HGSNAT
2 10.21 MANBA MAN2B1
3 9.32 MANBA MAN2B1

GO Terms for Mannosidosis, Beta a, Lysosomal

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.92 MANBA MAN2B1 HGSNAT CTBS

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.62 MANBA MAN2B1 MAN2A1 CTBS
2 protein targeting GO:0006605 9.37 KATNB1 CACNG3
3 mannose metabolic process GO:0006013 9.26 MAN2B1 MAN2A1
4 metabolic process GO:0008152 9.26 MANBA MAN2B1 MAN2A1 CTBS
5 protein deglycosylation GO:0006517 9.16 MAN2B1 MAN2A1
6 oligosaccharide catabolic process GO:0009313 8.8 MANBA MAN2B1 CTBS

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.73 MANEA MANBA MAN2B1 MAN2A1 CTBS CNP
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 MANBA CTBS
3 alpha-mannosidase activity GO:0004559 9.13 MANEA MAN2B1 MAN2A1
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.02 MANEA MANBA MAN2B1 MAN2A1 CTBS

Sources for Mannosidosis, Beta a, Lysosomal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....