MANSB
MCID: MNN019
MIFTS: 51

Mannosidosis, Beta a, Lysosomal (MANSB)

Categories: Bone diseases, Eye diseases, Genetic diseases, Mental 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 56 52 73
Beta-Mannosidosis 56 12 74 52 25 58 73 36 43 15 71
Lysosomal Beta-Mannosidase Deficiency 56 12 74 52 25 73 71
Beta-Mannosidase Deficiency 56 12 52 25 58 73
Beta-D-Mannosidosis 12 25 29 6
Mannosidosis, Beta 56 13 39
Mansb 56 73
Lysosomal Beta a Mannosidosis 25

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:

56
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 56 248510
KEGG 36 H00140
MeSH 43 D044905
NCIt 49 C84596
SNOMED-CT 67 238047006
MESH via Orphanet 44 D044905
ICD10 via Orphanet 33 E77.1
UMLS via Orphanet 72 C0342849 C2931893
Orphanet 58 ORPHA118
UMLS 71 C2931893 C4048196

Summaries for Mannosidosis, Beta a, Lysosomal

Genetics Home Reference : 25 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 skin, bone and kidney, and related phenotypes are hearing impairment and intellectual disability

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.

NIH Rare Diseases : 52 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 . Visit the Orphanet disease page for more resources.

OMIM : 56 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)

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 : 73 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 : 74 Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide... more...

Related Diseases for Mannosidosis, Beta a, Lysosomal

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 (showing 17, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
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 abnormality of metabolism/homeostasis 31 HP:0001939
11 angiokeratoma 31 HP:0001014
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:

56
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

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

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.43 CTBS HGSNAT KATNB1 MAN2A1 MAN2B1 MANBA
2 nervous system MP:0003631 9.28 CACNG3 CNP DSCAML1 HGSNAT KATNB1 LRTOMT

Drugs & Therapeutics for Mannosidosis, Beta a, Lysosomal

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

(showing 1, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 polysaccharide-K

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
2 Biomarker for Mannosidosis Disease - An International, Multicenter, Epidemiological Protocol Active, not recruiting NCT03264040

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
Skin, Bone, Kidney, Brain, Thyroid

Publications for Mannosidosis, Beta a, Lysosomal

Articles related to Mannosidosis, Beta a, Lysosomal:

(showing 106, show less)
# Title Authors PMID Year
1
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations. 6 56 61
18565776 2008
2
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency. 6 56 61
16401745 2006
3
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. 56 6 61
12468273 2002
4
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. 6 61 56
9384606 1998
5
Human beta-mannosidosis: a 3-year-old boy with speech impairment and emotional instability. 61 56 6
1623631 1992
6
Beta-mannosidosis and ethanolaminuria in a female patient. 61 56 6
1499588 1992
7
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. 61 56 6
2079835 1990
8
Human beta-mannosidase deficiency. 6 56
3762648 1986
9
Beta-mannosidosis mice: a model for the human lysosomal storage disease. 61 56
16377659 2006
10
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. 6 61
12890191 2003
11
Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis. 61 56
8921369 1996
12
Human beta-mannosidase deficiency associated with peripheral neuropathy. 61 56
8285582 1994
13
Animal model of human disease. Bovine beta-mannosidosis. 56 61
8456950 1993
14
Beta-mannosidosis in two brothers with hearing loss. 61 56
3141715 1988
15
Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine. 56 61
3128685 1988
16
Caprine beta-mannosidosis: clinical and pathological features. 61 56
6842266 1983
17
Distribution of central nervous system lesions in beta-mannosidosis. 56 61
6659869 1983
18
Beta-mannosidosis: lesions of the distal peripheral nervous system. 61 56
6637401 1983
19
Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase. 56 61
7228876 1981
20
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency. 56
8859034 1996
21
beta-mannosidase deficiency in a female infant with epileptic encephalopathy. 56
1861456 1991
22
Human beta-mannosidase deficiency. 56
2945113 1986
23
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. 61
31115173 2019
24
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant. 61
19728872 2009
25
Beta-mannosidosis: a new cause of spinocerebellar ataxia. 61
18980795 2009
26
Molecular cloning and structural organization of the gene encoding the mouse lysosomal di-N-acetylchitobiase (ctbs). 61
18440730 2008
27
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. 61
17694356 2007
28
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. 61
17420068 2007
29
Molecular analysis in two beta-mannosidosis patients: description of a new adult case. 61
16904924 2006
30
Beta-mannosidosis with angiokeratoma corporis diffusum. 61
15729869 2004
31
Mouse beta-mannosidase: cDNA cloning, expression, and chromosomal localization. 61
11892998 2001
32
Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes. 61
10594236 1999
33
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. 61
10571005 1999
34
[Beta-mannosidosis]. 61
9645109 1998
35
Biochemical and morphological expression of early prenatal caprine beta-mannosidosis. 61
9203214 1997
36
[Beta mannosidosis: a new case]. 61
9097826 1997
37
The mannosidoses and ceroid-lipofuscinoses: experimental studies on two types of storage disease. 61
9094178 1997
38
mRNA levels for central nervous system myelin proteins in myelin deficiency of caprine beta-mannosidosis. 61
8821484 1996
39
[Disorders of glycoprotein degradation]. 61
8577045 1995
40
[Lysosomal storage diseases with angiokeratoma corporis diffusum]. 61
8577059 1995
41
Development and efficacy of ultrasound-guided fetal fluid aspiration techniques for prenatal diagnosis of caprine beta-mannosidosis. 61
16727750 1995
42
[Beta-D-mannosidase]. 61
7583460 1995
43
Molecular cloning and characterization of bovine beta-mannosidase. 61
7876128 1995
44
Mammalian alpha-mannosidases--multiple forms but a common purpose? 61
7881169 1994
45
HPLC analysis of oligosaccharides in urine from oligosaccharidosis patients. 61
8087986 1994
46
Biochemical and histochemical analysis of lysosomal enzyme activities in caprine beta-mannosidosis. 61
8179772 1994
47
Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle. 61
8293984 1993
48
Myelin-associated glycoprotein (MAG) in myelin deficiency of caprine beta-mannosidosis. 61
7691380 1993
49
Ubiquitinated inclusions in brains from Salers calves with beta-mannosidosis. 61
8212463 1993
50
Bovine beta-mannosidosis: pathologic and genetic findings in Salers calves. 61
8470335 1993
51
Possible beta-mannosidosis chimera. Altered expression of metabolic perturbations. 61
8127051 1993
52
Caprine beta-mannosidosis: aberrant phenotype in a 5-month-old euthyroid animal. 61
8295417 1993
53
Bovine kidney beta-mannosidase: purification and characterization. 61
8424779 1993
54
Bovine plasma beta-mannosidase activity and its potential use for beta-mannosidosis carrier detection. 61
1457547 1992
55
Prenatal analyses in a pregnancy at risk for beta-mannosidosis. 61
1475254 1992
56
Beta-mannosidosis in Salers calves in Australia. 61
1642601 1992
57
Determination of sequence and linkage of tissue oligosaccharides in caprine beta-mannosidosis by fast atom bombardment, collisionally activated dissociation tandem mass spectrometry. 61
1422131 1992
58
Purification and characterization of goat lysosomal beta-mannosidase using monoclonal and polyclonal antibodies. 61
1556126 1992
59
Evidence for lipase abnormality: high levels of free and triacylglycerol forms of unsaturated fatty acids in neuronal ceroid-lipofuscinosis tissue. 61
1609837 1992
60
Mammalian beta-D-mannosidase and beta-mannosidosis. 61
1576208 1992
61
Oligosaccharides accumulated in the bovine beta-mannosidosis kidney. 61
1583877 1992
62
The ocular and otic pathology of bovine beta-mannosidosis. 61
1554780 1992
63
Caprine beta-mannosidosis: regional differences in deficits of CNS myelin proteins. 61
1283736 1992
64
Neuropathology of bovine beta-mannosidosis. 61
1895144 1991
65
Thyroid structure and function in bovine beta-mannosidosis. 61
1886407 1991
66
Complementation studies in human and caprine beta-mannosidosis. 61
1861455 1991
67
Beta-mannosidosis in twelve Salers calves. 61
1995562 1991
68
Sialyl-alpha 2-6-mannosyl-beta 1-4-N-acetylglucosamine, a novel compound occurring in urine of patients with beta-mannosidosis. 61
2246252 1990
69
beta-Mannosidosis in a Salers calf: a new storage disease of cattle. 61
16031588 1990
70
Regional central nervous system oligosaccharide storage in caprine beta-mannosidosis. 61
2370553 1990
71
Caprine beta-mannosidosis. Abnormal thyroid structure and function in a lysosomal storage disease. 61
2374396 1990
72
Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients. 61
2116550 1990
73
Investigation of dysmyelinogenesis in caprine beta-mannosidosis: in vitro characterization of oligodendrocytes. 61
2141598 1990
74
Caprine beta-mannosidosis: development of glial and myelin abnormalities in optic nerve and corpus callosum. 61
2138133 1990
75
Alpha- and beta-mannosidoses. 61
2122120 1990
76
Accumulation of mannosyl-beta(1----4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of beta-mannosidase. 61
2317928 1990
77
Preferential inhibition of lysosomal beta-mannosidase by sucrose. 61
2095335 1990
78
Novel storage products in human beta-mannosidosis. 61
2122084 1990
79
Disorders of glycoprotein degradation. 61
2122119 1990
80
Ocular pathology of caprine beta-mannosidosis. 61
2588439 1989
81
Otic pathology of caprine beta-mannosidosis. 61
3212889 1988
82
Partial purification of goat kidney beta-mannosidase. 61
3355501 1988
83
Absence of endo-beta-N-acetylglucosaminidase activity in the kidneys of sheep, cattle and pig. 61
3124807 1987
84
Properties and prenatal ontogeny of beta-D-mannosidase in selected goat tissues. 61
3632638 1987
85
Acid beta-mannosidase of human plasma: influence of age and sex on enzyme activity. 61
3123780 1987
86
Dysmyelinogenesis in caprine beta-mannosidosis: ultrastructural and morphometric studies in fetal optic nerve. 61
3503502 1987
87
Caprine beta-mannosidosis: phenotypic features. 61
2939617 1986
88
Glycoprotein metabolism in normal and beta-mannosidase-deficient cultured goat skin fibroblasts. 61
3085658 1986
89
Beta-mannosidosis: prenatal detection of caprine allantoic fluid oligosaccharides with thin layer, gel permeation and high performance liquid chromatography. 61
3088329 1986
90
Inheritance of beta-mannosidosis in goats. 61
3740554 1986
91
Structural characterization of novel complex oligosaccharides accumulated in the caprine beta-mannosidosis kidney. Occurrence of tetra- and pentasaccharides containing a beta-linked mannose residue at the nonreducing terminus. 61
4066670 1985
92
The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis. 61
4062743 1985
93
Caprine beta-Mannosidosis in Kids from an Ontario Herd. 61
17422528 1985
94
Axonal and myelin lesions in beta-mannosidosis: ultrastructural characteristics. 61
4038839 1985
95
Identification of glycoprotein storage diseases by lectins: a new diagnostic method. 61
6501863 1984
96
Beta-mannosidosis: prenatal biochemical and morphological characteristics. 61
6434833 1984
97
Structural analysis of the major caprine beta-mannosidosis urinary oligosaccharides. 61
6882792 1983
98
Caprine alpha- and beta-mannosidase activities: effects of age, sex, and reproductive status and potential use in heterozygote detection of beta-mannosidosis. 61
6869966 1983
99
Measurement of caprine plasma beta-mannosidase with a p-nitrophenyl substrate. 61
6869965 1983
100
Caprine beta mannosidosis: temporal bone pathology. 61
6624589 1983
101
Alternative substrates for use in the detection of goats heterozygous for beta-mannosidosis. 61
7134652 1982
102
Plasma alpha- and beta-mannosidase activities in caprine beta-mannosidosis. 61
7103175 1982
103
Evidence for two distinct forms of mammalian beta-mannosidase. 61
7061483 1982
104
Caprine beta-mannosidosis. 61
7122615 1982
105
Oligosaccharides accumulated in the kidney of a goat with beta-mannosidosis: mass spectrometry of intact permethylated derivatives. 61
7305382 1981
106
Caprine oligosaccharide storage disease. Accumulation of beta-mannosyl (1 goes to 4) beta-N-acetylglucosaminyl (1 goes to 4) beta-N-acetylglucosamine in brain. 61
7228875 1981

Variations for Mannosidosis, Beta a, Lysosomal

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

6 (showing 92, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MANBA NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)deletion Pathogenic 542166 rs775574131 4:103579002-103579003 4:102657845-102657846
2 MANBA NM_005908.4(MANBA):c.2158-2A>GSNV Pathogenic 590928 rs772852668 4:103556204-103556204 4:102635047-102635047
3 MANBA NM_005908.4(MANBA):c.693G>A (p.Trp231Ter)SNV Pathogenic 632877 rs763849774 4:103611909-103611909 4:102690752-102690752
4 MANBA MANBA, IVS-AS, A-G, -2SNV Pathogenic 1675
5 MANBA NM_005908.4(MANBA):c.960+1G>ASNV Pathogenic 1676 rs890870104 4:103610730-103610730 4:102689573-102689573
6 MANBA NM_005908.4(MANBA):c.563_572dup (p.Trp192_Gly193insTer)duplication Pathogenic 1677 rs752343321 4:103635695-103635696 4:102714538-102714539
7 MANBA MANBA, IVS13AS, G-A, -1SNV Pathogenic 1678
8 MANBA NM_005908.4(MANBA):c.1513T>C (p.Ser505Pro)SNV Pathogenic 1679 rs121434334 4:103579030-103579030 4:102657873-102657873
9 MANBA NM_005908.4(MANBA):c.375A>G (p.Arg125=)SNV Pathogenic 1680 rs771587242 4:103645022-103645022 4:102723865-102723865
10 MANBA NM_005908.4(MANBA):c.247G>T (p.Glu83Ter)SNV Pathogenic 1681 rs121434335 4:103647771-103647771 4:102726614-102726614
11 MANBA NM_005908.4(MANBA):c.1276C>T (p.Gln426Ter)SNV Pathogenic 1682 rs121434336 4:103590161-103590161 4:102669004-102669004
12 MANBA NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs)deletion Pathogenic 1683 rs1188116333 4:103585872-103585873 4:102664715-102664716
13 MANBA NM_005908.4(MANBA):c.1318-1G>TSNV Likely pathogenic 446030 rs374545788 4:103586010-103586010 4:102664853-102664853
14 MANBA NM_005908.4(MANBA):c.2191G>A (p.Val731Met)SNV Conflicting interpretations of pathogenicity 779672 4:103556169-103556169 4:102635012-102635012
15 MANBA NM_005908.4(MANBA):c.531T>C (p.His177=)SNV Conflicting interpretations of pathogenicity 347097 rs149902075 4:103644046-103644046 4:102722889-102722889
16 MANBA NM_005908.4(MANBA):c.*172G>ASNV Uncertain significance 347073 rs146374185 4:103553042-103553042 4:102631885-102631885
17 MANBA NM_005908.4(MANBA):c.*184A>GSNV Uncertain significance 347072 rs886058967 4:103553030-103553030 4:102631873-102631873
18 MANBA NM_005908.4(MANBA):c.2438A>T (p.Asp813Val)SNV Uncertain significance 347079 rs367692761 4:103553416-103553416 4:102632259-102632259
19 MANBA NM_005908.4(MANBA):c.1477G>A (p.Val493Ile)SNV Uncertain significance 347092 rs561172083 4:103585850-103585850 4:102664693-102664693
20 MANBA NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr)SNV Uncertain significance 347078 rs182869272 4:103553381-103553381 4:102632224-102632224
21 MANBA NM_005908.4(MANBA):c.2389G>A (p.Val797Met)SNV Uncertain significance 347080 rs747236675 4:103555971-103555971 4:102634814-102634814
22 MANBA NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala)SNV Uncertain significance 347090 rs778853902 4:103579021-103579021 4:102657864-102657864
23 MANBA NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn)SNV Uncertain significance 647562 4:103553314-103553314 4:102632157-102632157
24 MANBA NM_005908.4(MANBA):c.1471G>A (p.Glu491Lys)SNV Uncertain significance 639822 4:103585856-103585856 4:102664699-102664699
25 MANBA NM_005908.4(MANBA):c.2415+1G>CSNV Uncertain significance 631932 rs1284324018 4:103555944-103555944 4:102634787-102634787
26 MANBA NM_005908.4(MANBA):c.130G>A (p.Val44Ile)SNV Uncertain significance 475411 rs1432738569 4:103681922-103681922 4:102760765-102760765
27 MANBA NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser)SNV Uncertain significance 475412 rs538584064 4:103556078-103556078 4:102634921-102634921
28 MANBA NM_005908.4(MANBA):c.590C>G (p.Pro197Arg)SNV Uncertain significance 522705 rs1553951373 4:103635678-103635678 4:102714521-102714521
29 MANBA NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs)deletion Uncertain significance 542165 rs1341763493 4:103556004-103556008 4:102634847-102634851
30 MANBA NM_005908.4(MANBA):c.378+1G>ASNV Uncertain significance 585124 rs142029636 4:103645018-103645018 4:102723861-102723861
31 MANBA NM_005908.4(MANBA):c.*503G>CSNV Uncertain significance 901344 4:103552711-103552711 4:102631554-102631554
32 MANBA NM_005908.4(MANBA):c.*447G>ASNV Uncertain significance 901345 4:103552767-103552767 4:102631610-102631610
33 MANBA NM_005908.4(MANBA):c.*328T>ASNV Uncertain significance 901897 4:103552886-103552886 4:102631729-102631729
34 MANBA NM_005908.4(MANBA):c.2358C>T (p.Asn786=)SNV Uncertain significance 900243 4:103556002-103556002 4:102634845-102634845
35 MANBA NM_005908.4(MANBA):c.2269T>C (p.Leu757=)SNV Uncertain significance 901397 4:103556091-103556091 4:102634934-102634934
36 MANBA NM_005908.4(MANBA):c.2115T>C (p.Tyr705=)SNV Uncertain significance 901398 4:103557064-103557064 4:102635907-102635907
37 MANBA NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)SNV Uncertain significance 901951 4:103560963-103560963 4:102639806-102639806
38 MANBA NM_005908.4(MANBA):c.1913G>A (p.Arg638His)SNV Uncertain significance 901952 4:103560971-103560971 4:102639814-102639814
39 MANBA NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu)SNV Uncertain significance 901953 4:103571809-103571809 4:102650652-102650652
40 MANBA NM_005908.4(MANBA):c.1746A>T (p.Ser582=)SNV Uncertain significance 901954 4:103571817-103571817 4:102650660-102650660
41 MANBA NM_005908.4(MANBA):c.1072A>G (p.Ile358Val)SNV Uncertain significance 900300 4:103595116-103595116 4:102673959-102673959
42 MANBA NM_005908.4(MANBA):c.746G>A (p.Gly249Asp)SNV Uncertain significance 900302 4:103611856-103611856 4:102690699-102690699
43 MANBA NM_005908.4(MANBA):c.492C>T (p.Pro164=)SNV Uncertain significance 900303 4:103644085-103644085 4:102722928-102722928
44 MANBA NM_005908.4(MANBA):c.111G>T (p.Ser37=)SNV Uncertain significance 901456 4:103681941-103681941 4:102760784-102760784
45 MANBA NM_005908.4(MANBA):c.77G>A (p.Arg26His)SNV Uncertain significance 901457 4:103681975-103681975 4:102760818-102760818
46 MANBA NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys)SNV Uncertain significance 901458 4:103681984-103681984 4:102760827-102760827
47 MANBA NM_005908.4(MANBA):c.2416-3C>TSNV Uncertain significance 900242 4:103553441-103553441 4:102632284-102632284
48 MANBA NM_005908.4(MANBA):c.1317+14C>ASNV Uncertain significance 902849 4:103590106-103590106 4:102668949-102668949
49 MANBA NC_000004.12:g.(?_102650517)_(102726703_?)deldeletion Uncertain significance 832905 4:103571674-103647860
50 MANBA NM_005908.4(MANBA):c.2201G>A (p.Arg734His)SNV Uncertain significance 859480 4:103556159-103556159 4:102635002-102635002
51 MANBA NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp)SNV Uncertain significance 850663 4:103592551-103592551 4:102671394-102671394
52 MANBA NM_005908.4(MANBA):c.178-3C>TSNV Uncertain significance 854075 4:103647843-103647843 4:102726686-102726686
53 MANBA NM_005908.4(MANBA):c.*516T>CSNV Uncertain significance 347064 rs562838260 4:103552698-103552698 4:102631541-102631541
54 MANBA NM_005908.4(MANBA):c.*8T>GSNV Uncertain significance 347076 rs199881261 4:103553206-103553206 4:102632049-102632049
55 MANBA NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)SNV Uncertain significance 347083 rs147428514 4:103556064-103556064 4:102634907-102634907
56 MANBA NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu)SNV Uncertain significance 347089 rs147023714 4:103578861-103578861 4:102657704-102657704
57 MANBA NM_005908.4(MANBA):c.1112+8A>CSNV Uncertain significance 347093 rs752741187 4:103595068-103595068 4:102673911-102673911
58 MANBA NM_005908.4(MANBA):c.479G>A (p.Arg160His)SNV Uncertain significance 347098 rs144917953 4:103644098-103644098 4:102722941-102722941
59 MANBA NM_005908.4(MANBA):c.*314A>GSNV Uncertain significance 347071 rs886058966 4:103552900-103552900 4:102631743-102631743
60 MANBA NM_005908.4(MANBA):c.2311G>T (p.Val771Phe)SNV Uncertain significance 347082 rs201779762 4:103556049-103556049 4:102634892-102634892
61 MANBA NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys)SNV Uncertain significance 347085 rs763613927 4:103556148-103556148 4:102634991-102634991
62 MANBA NM_005908.4(MANBA):c.1953G>A (p.Thr651=)SNV Uncertain significance 347086 rs886058968 4:103560931-103560931 4:102639774-102639774
63 MANBA NM_005908.4(MANBA):c.961-8C>ASNV Uncertain significance 347094 rs886058969 4:103595235-103595235 4:102674078-102674078
64 MANBA NM_005908.4(MANBA):c.-58G>ASNV Likely benign 347101 rs548442432 4:103682109-103682109 4:102760952-102760952
65 MANBA NM_005908.4(MANBA):c.1705-13C>TSNV Likely benign 347087 rs34754408 4:103571871-103571871 4:102650714-102650714
66 MANBA NM_005908.4(MANBA):c.*437A>TSNV Likely benign 347066 rs80064803 4:103552777-103552777 4:102631620-102631620
67 MANBA NM_005908.4(MANBA):c.*521G>ASNV Likely benign 901343 4:103552693-103552693 4:102631536-102631536
68 MANBA NM_005908.4(MANBA):c.478C>T (p.Arg160Cys)SNV Likely benign 790006 4:103644099-103644099 4:102722942-102722942
69 MANBA NM_005908.4(MANBA):c.1112+9T>CSNV Likely benign 753980 4:103595067-103595067 4:102673910-102673910
70 MANBA NM_005908.4(MANBA):c.2416-9C>TSNV Likely benign 789430 4:103553447-103553447 4:102632290-102632290
71 MANBA NM_005908.4(MANBA):c.2136G>A (p.Ser712=)SNV Benign/Likely benign 786074 4:103557043-103557043 4:102635886-102635886
72 MANBA NM_005908.4(MANBA):c.1254C>G (p.Ala418=)SNV Benign/Likely benign 791001 4:103590183-103590183 4:102669026-102669026
73 MANBA NM_005908.4(MANBA):c.1485+9T>CSNV Benign/Likely benign 542167 rs199592616 4:103585833-103585833 4:102664676-102664676
74 MANBA NM_005908.4(MANBA):c.2246T>A (p.Leu749His)SNV Benign/Likely benign 347084 rs142248415 4:103556114-103556114 4:102634957-102634957
75 MANBA NM_005908.4(MANBA):c.*356G>ASNV Benign 347069 rs7672268 4:103552858-103552858 4:102631701-102631701
76 MANBA NM_005908.4(MANBA):c.315G>A (p.Thr105=)SNV Benign 347099 rs6857760 4:103645082-103645082 4:102723925-102723925
77 MANBA NM_005908.4(MANBA):c.*384C>TSNV Benign 347068 rs4019 4:103552830-103552830 4:102631673-102631673
78 MANBA NM_005908.4(MANBA):c.*317A>GSNV Benign 347070 rs78514870 4:103552897-103552897 4:102631740-102631740
79 MANBA NM_005908.4(MANBA):c.*124T>CSNV Benign 347075 rs3194585 4:103553090-103553090 4:102631933-102631933
80 MANBA NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg)SNV Benign 347081 rs116340501 4:103556009-103556009 4:102634852-102634852
81 MANBA NM_005908.4(MANBA):c.178-8A>GSNV Benign 347100 rs113584126 4:103647848-103647848 4:102726691-102726691
82 MANBA NM_005908.4(MANBA):c.831A>G (p.Leu277=)SNV Benign 347095 rs17033168 4:103611771-103611771 4:102690614-102690614
83 MANBA NM_005908.4(MANBA):c.1705-13C>ASNV Benign 347088 rs34754408 4:103571871-103571871 4:102650714-102650714
84 MANBA NM_005908.4(MANBA):c.*401G>ASNV Benign 347067 rs4013 4:103552813-103552813 4:102631656-102631656
85 MANBA NM_005908.4(MANBA):c.2102C>T (p.Thr701Met)SNV Benign 95319 rs2866413 4:103557077-103557077 4:102635920-102635920
86 MANBA NM_005908.4(MANBA):c.2368T>C (p.Leu790=)SNV Benign 95320 rs2272697 4:103555992-103555992 4:102634835-102634835
87 MANBA NM_005908.4(MANBA):c.849+13A>CSNV Benign 900301 4:103611740-103611740 4:102690583-102690583
88 MANBA NM_005908.4(MANBA):c.1482G>T (p.Leu494=)SNV Benign 347091 rs74718667 4:103585845-103585845 4:102664688-102664688
89 MANBA NM_005908.4(MANBA):c.757G>A (p.Val253Ile)SNV Benign 347096 rs227368 4:103611845-103611845 4:102690688-102690688
90 MANBA NM_005908.4(MANBA):c.2482G>A (p.Val828Ile)SNV Benign 347077 rs75826658 4:103553372-103553372 4:102632215-102632215
91 MANBA NM_005908.4(MANBA):c.*161C>TSNV Benign 347074 rs1054029 4:103553053-103553053 4:102631896-102631896
92 MANBA NM_005908.4(MANBA):c.*505G>ASNV Benign 347065 rs1054037 4:103552709-103552709 4:102631552-102631552

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

73 (showing 3, show less)
# 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 (showing 2, show less)
# 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:

(showing 3, show less)
# 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:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.02 SNX14 MANBA MAN2B1 HGSNAT CTBS

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

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.56 MANBA MAN2B1 MAN2A1 CTBS
2 protein targeting GO:0006605 9.4 KATNB1 CACNG3
3 protein deglycosylation GO:0006517 9.37 MAN2B1 MAN2A1
4 mannose metabolic process GO:0006013 9.32 MAN2B1 MAN2A1
5 metabolic process GO:0008152 9.26 MANBA MAN2B1 MAN2A1 CTBS
6 auditory receptor cell development GO:0060117 9.16 PDZD7 LRTOMT
7 oligosaccharide catabolic process GO:0009313 8.8 MANBA MAN2B1 CTBS

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

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 MANEA MANBA MAN2B1 MAN2A1 CTBS CNP
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 MANBA CTBS
3 mannose binding GO:0005537 9.16 MANBA MAN2B1
4 alpha-mannosidase activity GO:0004559 9.13 MANEA MAN2B1 MAN2A1
5 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....