MCID: MNN047
MIFTS: 56

Mannosidosis, Alpha B, Lysosomal

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

Aliases & Classifications for Mannosidosis, Alpha B, Lysosomal

MalaCards integrated aliases for Mannosidosis, Alpha B, Lysosomal:

Name: Mannosidosis, Alpha B, Lysosomal 57 75 38
Alpha-Mannosidosis 57 38 12 76 24 53 25 59 75 37 44 15 73
Lysosomal Alpha-D-Mannosidase Deficiency 57 76 24 53 25 59 75
Deficiency of Alpha-Mannosidase 12 25 29 6
Alpha-Mannosidase B Deficiency 57 25 75
Alpha-Mannosidase Deficiency 12 25 40
Mannosidosis, Alpha-, Types I and Ii 57 13
Alpha-D-Mannosidosis 12 25
Mansa 57 75
Alpha-Mannosidosis Types I and Ii 75
Mannosidosis, Alpha B Lysosomal 53
Mannosidase Deficiency Diseases 73
Alpha Mannosidase B Deficiency 53
Lysosomal Alpha B Mannosidosis 25
Mannosidosis 25

Characteristics:

Orphanet epidemiological data:

59
alpha-mannosidosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),<1/1000000 (Sweden); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
wide phenotypic variability and severity
neurologic symptoms are progressive
most patients show early childhood onset after a period of normal development
some patients show infantile onset
some patients show onset later in childhood


HPO:

32
mannosidosis, alpha b, lysosomal:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mannosidosis, Alpha B, Lysosomal

NIH Rare Diseases : 53 Alpha mannosidosis  is a lysosomal storage disorder, a form of inborn metabolic disease. It is characterized by intellectual disability, hearing loss, ataxia, skeletal abnormalities, and coarse facial features.Signs and symptoms vary, but often include mild to moderate intellectual disability, hearing loss, weakened immune system, distinctive facial features, and cerebellar disorders (e.g., ataxia). Symptoms slowly worsen over time. According to the severity of the symptoms it is classified in 3 sub-types:Type 1: A mild form recognized after age ten years with absence of skeletal abnormalities, muscle problems (myopathy), and slow progression Type 2: A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression. It is the most common form. Type 3: A severe form manifested as pregnancy loss or early death from progressive central nervous system involvement. Alpha mannosidosis is caused by a mutations in the MAN2B1 gene,  which codifies a type of enzyme (lysosomal alpha-mannosidase), that degrade glycoproteins (proteins attached to sugar residues) into smaller fragments. The lack or deficiency of this enzyme results in the toxic build-up of sugars (i.e., mannose-containing oligosaccharides) in the cells of the body. Inheritance is autosomal recessive. Treatment aims to avoid complications and improve the quality of life. Ongoing research for new treatments include bone marrow transplant and enzyme replacement.

MalaCards based summary : Mannosidosis, Alpha B, Lysosomal, also known as alpha-mannosidosis, is related to mannosidosis and mannosidosis, beta a, lysosomal, and has symptoms including muscle spasticity and gait ataxia. An important gene associated with Mannosidosis, Alpha B, Lysosomal is MAN2B1 (Mannosidase Alpha Class 2B Member 1), and among its related pathways/superpathways are Other glycan degradation and Lysosome. The drugs Mannitol and Glycine have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and bone marrow, and related phenotypes are macrocephaly and hypertelorism

OMIM : 57 Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). (248500)

UniProtKB/Swiss-Prot : 75 Mannosidosis, alpha B, lysosomal: A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities.

Genetics Home Reference : 25 Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue. The skeletal abnormalities that can occur in this disorder include reduced bone density (osteopenia), thickening of the bones at the top of the skull (calvaria), deformations of the bones in the spine (vertebrae), bowed legs or knock knees, and deterioration of the bones and joints.

Disease Ontology : 12 A lysosomal storage disease that has material basis in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.

Wikipedia : 76 Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in... more...

GeneReviews: NBK1396

Related Diseases for Mannosidosis, Alpha B, Lysosomal

Diseases in the Mannosidosis, Beta a, Lysosomal family:

Mannosidosis, Alpha B, Lysosomal

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 mannosidosis 32.6 MAN2B1 MANBA
2 mannosidosis, beta a, lysosomal 30.4 CTSA GAA HEXA MAN2B1 MANBA
3 lysosomal storage disease 26.5 CTSA GAA HEXA MAN2B1 MANBA
4 alpha-mannosidosis, infantile form 12.2
5 alpha-mannosidosis, adult form 12.2
6 malaria 9.9
7 schistosomiasis 9.9
8 mucopolysaccharidosis, type vii 9.9 HEXA MANBA
9 systemic lupus erythematosus 9.9
10 aging 9.9
11 hematopoietic stem cell transplantation 9.9
12 polyneuropathy 9.9
13 retinitis 9.9
14 neuronitis 9.9
15 periodontitis 9.9
16 fundus dystrophy 9.9
17 lupus erythematosus 9.9
18 angiokeratoma 9.8 CTSA MANBA
19 mucolipidosis iv 9.7 CTSA HEXA
20 sphingolipidosis 9.7 CTSA HEXA
21 tay-sachs disease 9.6 CTSA HEXA
22 aspartylglucosaminuria 9.4 CTSA GAA
23 inherited metabolic disorder 9.2 GAA HEXA
24 gangliosidosis gm2 8.9 CTSA GAA HEXA
25 fucosidosis 8.9 CTSA GAA HEXA
26 scheie syndrome 8.9 CTSA GAA HEXA
27 trehalase deficiency 8.4 GAA HEXA MAN2B1

Graphical network of the top 20 diseases related to Mannosidosis, Alpha B, Lysosomal:



Diseases related to Mannosidosis, Alpha B, Lysosomal

Symptoms & Phenotypes for Mannosidosis, Alpha B, Lysosomal

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
flat occiput

Neurologic Central Nervous System:
nystagmus
spasticity
dysarthria
hyperreflexia
gait ataxia
more
AbdomenSpleen:
splenomegaly

Chest External Features:
pectus carinatum

Skeletal Spine:
spondylolisthesis
increased vertebral height
abnormal vertebral bodies (ovoid, flat, beaked)
thoracolumbar gibbus deformity

Immunology:
recurrent bacterial infections
decreased serum immunoglobulin

Head And Neck Eyes:
epicanthal folds
heavy eyebrows
lenticular 'spoke-like' opacities
retinal degeneration in adult patients, progressive
impaired smooth pursuit in adult patients
more
Head And Neck Ears:
large ears
sensorineural deafness

Growth Other:
growth retardation in severe cases

Chest Ribs Sternum Clavicles And Scapulae:
thick, undertubulated ribs

Skeletal Limbs:
bowed femurs

Head And Neck Face:
frontal bossing
broad forehead
midface hypoplasia
prognathism
coarse facies

Head And Neck Mouth:
macroglossia
gingival hypertrophy

Abdomen Liver:
hepatomegaly

Skeletal:
dysostosis multiplex

Skin Nails Hair Hair:
low anterior hairline
hypertrichosis
heavy eyebrows
anterior hair whorl

Hematology:
vacuolated lymphocytes

Head And Neck Nose:
flat nose

Genitourinary External Genitalia Male:
inguinal hernia (in some patients)

Head And Neck Teeth:
widely-spaced teeth

Skeletal Skull:
thickening of the calvaria

Laboratory Abnormalities:
increased urinary mannose-containing oligosaccharides
decreased lysosomal alpha-mannosidase activity in plasma and leukocytes


Clinical features from OMIM:

248500

Human phenotypes related to Mannosidosis, Alpha B, Lysosomal:

59 32 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
8 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
9 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
10 narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0000189
11 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
12 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
13 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
14 prominent supraorbital ridges 59 32 frequent (33%) Frequent (79-30%) HP:0000336
15 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
16 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
17 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
18 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
19 widely spaced teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000687
20 dental malocclusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000689
21 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
22 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
23 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
24 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
25 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
26 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
27 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
28 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
29 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
30 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
31 craniofacial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004493
32 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
33 type ii diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005978
34 bowing of the long bones 59 32 frequent (33%) Frequent (79-30%) HP:0006487
35 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
36 hypoplastic inferior ilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008821
37 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807
38 aseptic necrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010885
39 abnormality of the helix 59 32 frequent (33%) Frequent (79-30%) HP:0011039
40 generalized abnormality of skin 59 32 frequent (33%) Frequent (79-30%) HP:0011354
41 synostosis of joints 59 32 occasional (7.5%) Occasional (29-5%) HP:0100240
42 malar flattening 32 HP:0000272
43 frontal bossing 32 HP:0002007
44 nystagmus 32 HP:0000639
45 spasticity 32 HP:0001257
46 dysarthria 32 HP:0001260
47 hyperreflexia 32 HP:0001347
48 behavioral abnormality 59 Frequent (79-30%)
49 pectus carinatum 32 HP:0000768
50 thickened calvaria 32 HP:0002684

UMLS symptoms related to Mannosidosis, Alpha B, Lysosomal:


muscle spasticity, gait ataxia

MGI Mouse Phenotypes related to Mannosidosis, Alpha B, Lysosomal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 MAN2B1 MANBA CTSA GAA HEXA
2 cardiovascular system MP:0005385 9.46 CTSA GAA MAN2B1 MANBA
3 liver/biliary system MP:0005370 9.26 CTSA HEXA MAN2B1 MANBA
4 renal/urinary system MP:0005367 8.92 CTSA HEXA MAN2B1 MANBA

Drugs & Therapeutics for Mannosidosis, Alpha B, Lysosomal

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

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
2
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
7
alemtuzumab Approved, Investigational Phase 2 216503-57-0
8
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
9
Mesna Approved, Investigational Phase 2 3375-50-6 598
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
12
Mycophenolic acid Approved Phase 2 24280-93-1 446541
13
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
14
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
15
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
16
rituximab Approved Phase 2 174722-31-7 10201696
17
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
18
Hydroxyurea Approved Phase 2 127-07-1 3657
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20 tannic acid Approved, Nutraceutical Phase 2
21
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
23 Alkylating Agents Phase 2
24 Antilymphocyte Serum Phase 2
25 Antineoplastic Agents, Alkylating Phase 2
26 Antirheumatic Agents Phase 2
27 Immunosuppressive Agents Phase 2
28 Methylprednisolone acetate Phase 2
29 Methylprednisolone Hemisuccinate Phase 2
30 Prednisolone acetate Phase 2
31 Prednisolone hemisuccinate Phase 2
32 Prednisolone phosphate Phase 2
33 Anti-Bacterial Agents Phase 2
34 Antibiotics, Antitubercular Phase 2
35 Antifungal Agents Phase 2
36 Anti-Infective Agents Phase 2
37 Antitubercular Agents Phase 2
38 Calcineurin Inhibitors Phase 2
39 Cyclosporins Phase 2
40 Dermatologic Agents Phase 2
41 Antimetabolites Phase 2
42 Antimetabolites, Antineoplastic Phase 2
43 N-monoacetylcystine Phase 2
44 Thioctic Acid Phase 2
45 Tocopherols Phase 2
46 Tocotrienols Phase 2
47 Vitamins Phase 2
48 Nucleic Acid Synthesis Inhibitors Phase 2
49 Alpha-lipoic Acid Nutraceutical Phase 2
50 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 A Placebo-Controlled Phase 3 Trial of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis Completed NCT01681953 Phase 3 Lamazym;Placebo
2 Evaluation of Long-term Efficacy of Treatment With Lamazym Completed NCT02478840 Phase 3 Lamazym
3 Lamazym Aftercare Study FR Designed to Provide Treatment for French Patients Active, not recruiting NCT01908712 Phase 3 Lamazym
4 Lamazym Aftercare Study Active, not recruiting NCT01908725 Phase 3 Lamazym
5 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
6 Dose Finding Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis Unknown status NCT01285700 Phase 2 Lamazym
7 Long-term Efficacy and Safety of Lamazym for the Treatment of Patients With Alpha-Mannosidosis Completed NCT01681940 Phase 2 Lamazym
8 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
9 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
10 Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis Recruiting NCT02998879 Phase 2 Velmanase Alfa (e.g. Lamazym)
11 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
12 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
13 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
14 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
15 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
16 Safety Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis Completed NCT01268358 Phase 1 Lamazym
17 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
18 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
19 The Natural History of Alpha-Mannosidosis Completed NCT00498420
20 Biomarker for Alpha-Mannosidosis Disease Recruiting NCT03264040
21 Clinical Biomarkers in Alpha-mannosidosis Recruiting NCT02141503
22 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
23 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200

Search NIH Clinical Center for Mannosidosis, Alpha B, Lysosomal

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mannosidosis, Alpha B, Lysosomal cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mannosidosis, Alpha B, Lysosomal:
Enriched hematopoetic stem cell for inherited metabolic disorders
Embryonic/Adult Cultured Cells Related to Mannosidosis, Alpha B, Lysosomal:
Bone marrow-derived hematopoietic stem cells (family) PMIDs: 22430083

Cochrane evidence based reviews: alpha-mannosidosis

Genetic Tests for Mannosidosis, Alpha B, Lysosomal

Genetic tests related to Mannosidosis, Alpha B, Lysosomal:

# Genetic test Affiliating Genes
1 Deficiency of Alpha-Mannosidase 29 MAN2B1

Anatomical Context for Mannosidosis, Alpha B, Lysosomal

MalaCards organs/tissues related to Mannosidosis, Alpha B, Lysosomal:

41
Bone, Tongue, Bone Marrow, Skin, Eye

Publications for Mannosidosis, Alpha B, Lysosomal

Articles related to Mannosidosis, Alpha B, Lysosomal:

# Title Authors Year
1
Deficiency of alpha-mannosidase in Angus cattle. An inherited lysosomal storage disease. ( 4673577 )
1972

Variations for Mannosidosis, Alpha B, Lysosomal

UniProtKB/Swiss-Prot genetic disease variations for Mannosidosis, Alpha B, Lysosomal:

75 (show all 40)
# Symbol AA change Variation ID SNP ID
1 MAN2B1 p.His72Leu VAR_003338 rs387906261
2 MAN2B1 p.Thr355Pro VAR_003342 rs864621992
3 MAN2B1 p.Pro356Arg VAR_003343 rs121434333
4 MAN2B1 p.Trp714Arg VAR_003346 rs864621993
5 MAN2B1 p.Arg750Trp VAR_003347 rs80338680
6 MAN2B1 p.Leu809Pro VAR_003348 rs80338681
7 MAN2B1 p.His200Leu VAR_026412 rs864621978
8 MAN2B1 p.Ser453Tyr VAR_026413 rs864621984
9 MAN2B1 p.Gly801Asp VAR_026414 rs864621994
10 MAN2B1 p.Cys55Phe VAR_068034 rs864621975
11 MAN2B1 p.Asp74Glu VAR_068035 rs746702002
12 MAN2B1 p.Ala95Pro VAR_068036 rs754036398
13 MAN2B1 p.Tyr99His VAR_068037 rs794727484
14 MAN2B1 p.Asp159Asn VAR_068038 rs864621976
15 MAN2B1 p.Pro197Arg VAR_068039 rs864621977
16 MAN2B1 p.His200Asn VAR_068040 rs772108001
17 MAN2B1 p.Arg202Pro VAR_068041 rs864621979
18 MAN2B1 p.Arg229Trp VAR_068042 rs763257568
19 MAN2B1 p.Pro263Leu VAR_068044 rs746808159
20 MAN2B1 p.Ser318Leu VAR_068046 rs774034389
21 MAN2B1 p.Leu352Pro VAR_068048 rs864621980
22 MAN2B1 p.Pro379Leu VAR_068049 rs864621981
23 MAN2B1 p.Gly390Cys VAR_068050 rs864621982
24 MAN2B1 p.Gly420Val VAR_068051 rs772853856
25 MAN2B1 p.His445Tyr VAR_068052 rs864621983
26 MAN2B1 p.Gly451Cys VAR_068053 rs368899357
27 MAN2B1 p.Ser453Phe VAR_068054 rs864621984
28 MAN2B1 p.Val457Glu VAR_068055 rs864621985
29 MAN2B1 p.Cys501Ser VAR_068056 rs747721968
30 MAN2B1 p.Leu565Pro VAR_068057 rs864621986
31 MAN2B1 p.Thr745Arg VAR_068059 rs864621987
32 MAN2B1 p.Gly800Arg VAR_068060 rs398123456
33 MAN2B1 p.Gly800Trp VAR_068061 rs398123456
34 MAN2B1 p.Gly891Arg VAR_068063 rs864621988
35 MAN2B1 p.Leu892Pro VAR_068064 rs864621989
36 MAN2B1 p.Arg916Cys VAR_068065 rs864621990
37 MAN2B1 p.Arg916His VAR_068066 rs758765126
38 MAN2B1 p.Arg950Pro VAR_068067 rs139041112
39 MAN2B1 p.Leu956Arg VAR_068068 rs768233248
40 MAN2B1 p.Phe1000Ser VAR_068069 rs864621991

ClinVar genetic disease variations for Mannosidosis, Alpha B, Lysosomal:

6
(show top 50) (show all 236)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAN2B1 NM_000528.3(MAN2B1): c.2278C> T (p.Arg760Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434331 GRCh37 Chromosome 19, 12760232: 12760232
2 MAN2B1 NM_000528.3(MAN2B1): c.2278C> T (p.Arg760Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434331 GRCh38 Chromosome 19, 12649418: 12649418
3 MAN2B1 NM_000528.3(MAN2B1): c.1915C> T (p.Gln639Ter) single nucleotide variant Pathogenic rs121434332 GRCh37 Chromosome 19, 12763190: 12763190
4 MAN2B1 NM_000528.3(MAN2B1): c.1915C> T (p.Gln639Ter) single nucleotide variant Pathogenic rs121434332 GRCh38 Chromosome 19, 12652376: 12652376
5 MAN2B1 NM_000528.3(MAN2B1): c.2248C> T (p.Arg750Trp) single nucleotide variant Pathogenic rs80338680 GRCh37 Chromosome 19, 12760746: 12760746
6 MAN2B1 NM_000528.3(MAN2B1): c.2248C> T (p.Arg750Trp) single nucleotide variant Pathogenic rs80338680 GRCh38 Chromosome 19, 12649932: 12649932
7 MAN2B1 NM_000528.3(MAN2B1): c.1830+1G> C single nucleotide variant Pathogenic rs80338677 GRCh37 Chromosome 19, 12766507: 12766507
8 MAN2B1 NM_000528.3(MAN2B1): c.1830+1G> C single nucleotide variant Pathogenic rs80338677 GRCh38 Chromosome 19, 12655693: 12655693
9 MAN2B1 NM_000528.3(MAN2B1): c.1831-2A> G single nucleotide variant Pathogenic rs80338678 GRCh37 Chromosome 19, 12763276: 12763276
10 MAN2B1 NM_000528.3(MAN2B1): c.1831-2A> G single nucleotide variant Pathogenic rs80338678 GRCh38 Chromosome 19, 12652462: 12652462
11 MAN2B1 NM_000528.3(MAN2B1): c.2165+1G> A single nucleotide variant Pathogenic rs80338679 GRCh37 Chromosome 19, 12760917: 12760917
12 MAN2B1 NM_000528.3(MAN2B1): c.2165+1G> A single nucleotide variant Pathogenic rs80338679 GRCh38 Chromosome 19, 12650103: 12650103
13 MAN2B1 NM_000528.3(MAN2B1): c.2426T> C (p.Leu809Pro) single nucleotide variant Likely pathogenic rs80338681 GRCh37 Chromosome 19, 12759960: 12759960
14 MAN2B1 NM_000528.3(MAN2B1): c.2426T> C (p.Leu809Pro) single nucleotide variant Likely pathogenic rs80338681 GRCh38 Chromosome 19, 12649146: 12649146
15 MAN2B1 NM_000528.3(MAN2B1): c.2436+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs398123457 GRCh37 Chromosome 19, 12759948: 12759948
16 MAN2B1 NM_000528.3(MAN2B1): c.2436+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs398123457 GRCh38 Chromosome 19, 12649134: 12649134
17 MAN2B1 NM_000528.3(MAN2B1): c.1383C> G (p.Tyr461Ter) single nucleotide variant Pathogenic/Likely pathogenic rs775200333 GRCh37 Chromosome 19, 12768296: 12768296
18 MAN2B1 NM_000528.3(MAN2B1): c.1383C> G (p.Tyr461Ter) single nucleotide variant Pathogenic/Likely pathogenic rs775200333 GRCh38 Chromosome 19, 12657482: 12657482
19 MAN2B1 NM_000528.3(MAN2B1): c.1109G> A (p.Trp370Ter) single nucleotide variant Likely pathogenic rs786204715 GRCh38 Chromosome 19, 12658428: 12658428
20 MAN2B1 NM_000528.3(MAN2B1): c.1109G> A (p.Trp370Ter) single nucleotide variant Likely pathogenic rs786204715 GRCh37 Chromosome 19, 12769242: 12769242
21 MAN2B1 NM_000528.3(MAN2B1): c.2402dupG (p.Ser802Glnfs) duplication Pathogenic rs797044680 GRCh37 Chromosome 19, 12759984: 12759984
22 MAN2B1 NM_000528.3(MAN2B1): c.2402dupG (p.Ser802Glnfs) duplication Pathogenic rs797044680 GRCh38 Chromosome 19, 12649170: 12649170
23 MAN2B1 NM_000528.3(MAN2B1): c.295T> C (p.Tyr99His) single nucleotide variant Uncertain significance rs794727484 GRCh37 Chromosome 19, 12776307: 12776307
24 MAN2B1 NM_000528.3(MAN2B1): c.295T> C (p.Tyr99His) single nucleotide variant Uncertain significance rs794727484 GRCh38 Chromosome 19, 12665493: 12665493
25 MAN2B1 NM_000528.3(MAN2B1): c.747C> T (p.Thr249=) single nucleotide variant Benign/Likely benign rs61737536 GRCh37 Chromosome 19, 12774533: 12774533
26 MAN2B1 NM_000528.3(MAN2B1): c.747C> T (p.Thr249=) single nucleotide variant Benign/Likely benign rs61737536 GRCh38 Chromosome 19, 12663719: 12663719
27 MAN2B1 NM_000528.3(MAN2B1): c.743C> T (p.Pro248Leu) single nucleotide variant Likely benign rs117843968 GRCh37 Chromosome 19, 12774537: 12774537
28 MAN2B1 NM_000528.3(MAN2B1): c.743C> T (p.Pro248Leu) single nucleotide variant Likely benign rs117843968 GRCh38 Chromosome 19, 12663723: 12663723
29 MAN2B1 NM_000528.3(MAN2B1): c.2999T> C (p.Phe1000Ser) single nucleotide variant Uncertain significance rs864621991 GRCh38 Chromosome 19, 12646657: 12646657
30 MAN2B1 NM_000528.3(MAN2B1): c.2999T> C (p.Phe1000Ser) single nucleotide variant Uncertain significance rs864621991 GRCh37 Chromosome 19, 12757471: 12757471
31 MAN2B1 NM_000528.3(MAN2B1): c.2867T> G (p.Leu956Arg) single nucleotide variant Uncertain significance rs768233248 GRCh37 Chromosome 19, 12758103: 12758103
32 MAN2B1 NM_000528.3(MAN2B1): c.2867T> G (p.Leu956Arg) single nucleotide variant Uncertain significance rs768233248 GRCh38 Chromosome 19, 12647289: 12647289
33 MAN2B1 NM_000528.3(MAN2B1): c.2849G> C (p.Arg950Pro) single nucleotide variant Uncertain significance rs139041112 GRCh37 Chromosome 19, 12758121: 12758121
34 MAN2B1 NM_000528.3(MAN2B1): c.2849G> C (p.Arg950Pro) single nucleotide variant Uncertain significance rs139041112 GRCh38 Chromosome 19, 12647307: 12647307
35 MAN2B1 NM_000528.3(MAN2B1): c.2747G> A (p.Arg916His) single nucleotide variant Uncertain significance rs758765126 GRCh38 Chromosome 19, 12647516: 12647516
36 MAN2B1 NM_000528.3(MAN2B1): c.2747G> A (p.Arg916His) single nucleotide variant Uncertain significance rs758765126 GRCh37 Chromosome 19, 12758330: 12758330
37 MAN2B1 NM_000528.3(MAN2B1): c.2746C> T (p.Arg916Cys) single nucleotide variant Uncertain significance rs864621990 GRCh37 Chromosome 19, 12758331: 12758331
38 MAN2B1 NM_000528.3(MAN2B1): c.2746C> T (p.Arg916Cys) single nucleotide variant Uncertain significance rs864621990 GRCh38 Chromosome 19, 12647517: 12647517
39 MAN2B1 NM_000528.3(MAN2B1): c.2675T> C (p.Leu892Pro) single nucleotide variant Uncertain significance rs864621989 GRCh37 Chromosome 19, 12758402: 12758402
40 MAN2B1 NM_000528.3(MAN2B1): c.2675T> C (p.Leu892Pro) single nucleotide variant Uncertain significance rs864621989 GRCh38 Chromosome 19, 12647588: 12647588
41 MAN2B1 NM_000528.3(MAN2B1): c.2671G> A (p.Gly891Arg) single nucleotide variant Uncertain significance rs864621988 GRCh37 Chromosome 19, 12758406: 12758406
42 MAN2B1 NM_000528.3(MAN2B1): c.2671G> A (p.Gly891Arg) single nucleotide variant Uncertain significance rs864621988 GRCh38 Chromosome 19, 12647592: 12647592
43 MAN2B1 NM_000528.3(MAN2B1): c.2402G> A (p.Gly801Asp) single nucleotide variant Uncertain significance rs864621994 GRCh38 Chromosome 19, 12649170: 12649170
44 MAN2B1 NM_000528.3(MAN2B1): c.2402G> A (p.Gly801Asp) single nucleotide variant Uncertain significance rs864621994 GRCh37 Chromosome 19, 12759984: 12759984
45 MAN2B1 NM_000528.3(MAN2B1): c.2398G> T (p.Gly800Trp) single nucleotide variant Uncertain significance rs398123456 GRCh37 Chromosome 19, 12759988: 12759988
46 MAN2B1 NM_000528.3(MAN2B1): c.2398G> T (p.Gly800Trp) single nucleotide variant Uncertain significance rs398123456 GRCh38 Chromosome 19, 12649174: 12649174
47 MAN2B1 NM_000528.3(MAN2B1): c.2398G> C (p.Gly800Arg) single nucleotide variant Uncertain significance rs398123456 GRCh38 Chromosome 19, 12649174: 12649174
48 MAN2B1 NM_000528.3(MAN2B1): c.2398G> C (p.Gly800Arg) single nucleotide variant Uncertain significance rs398123456 GRCh37 Chromosome 19, 12759988: 12759988
49 MAN2B1 NM_000528.3(MAN2B1): c.2234C> G (p.Thr745Arg) single nucleotide variant Uncertain significance rs864621987 GRCh37 Chromosome 19, 12760760: 12760760
50 MAN2B1 NM_000528.3(MAN2B1): c.2234C> G (p.Thr745Arg) single nucleotide variant Uncertain significance rs864621987 GRCh38 Chromosome 19, 12649946: 12649946

Expression for Mannosidosis, Alpha B, Lysosomal

Search GEO for disease gene expression data for Mannosidosis, Alpha B, Lysosomal.

Pathways for Mannosidosis, Alpha B, Lysosomal

Pathways related to Mannosidosis, Alpha B, Lysosomal according to KEGG:

37
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Lysosome hsa04142

GO Terms for Mannosidosis, Alpha B, Lysosomal

Cellular components related to Mannosidosis, Alpha B, Lysosomal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.35 CTSA GAA HEXA MAN2B1 MANBA
2 azurophil granule lumen GO:0035578 9.26 CTSA MAN2B1
3 azurophil granule membrane GO:0035577 9.16 GAA MANBA
4 lysosomal lumen GO:0043202 9.02 CTSA GAA HEXA MAN2B1 MANBA

Biological processes related to Mannosidosis, Alpha B, Lysosomal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.46 GAA HEXA MAN2B1 MANBA
2 cellular protein modification process GO:0006464 9.37 MAN2B1 MANBA
3 glycosphingolipid metabolic process GO:0006687 9.32 CTSA HEXA
4 oligosaccharide catabolic process GO:0009313 9.26 MAN2B1 MANBA
5 neutrophil degranulation GO:0043312 9.26 CTSA GAA MAN2B1 MANBA
6 carbohydrate metabolic process GO:0005975 8.92 GAA HEXA MAN2B1 MANBA

Molecular functions related to Mannosidosis, Alpha B, Lysosomal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.35 CTSA GAA HEXA MAN2B1 MANBA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 GAA HEXA MAN2B1 MANBA

Sources for Mannosidosis, Alpha B, Lysosomal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....