MANSA
MCID: MNN047
MIFTS: 67

Mannosidosis, Alpha B, Lysosomal (MANSA)

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

Aliases & Classifications for Mannosidosis, Alpha B, Lysosomal

MalaCards integrated aliases for Mannosidosis, Alpha B, Lysosomal:

Name: Mannosidosis, Alpha B, Lysosomal 57 72 37 39
Alpha-Mannosidosis 57 12 73 25 20 43 58 72 36 44 15 70
Lysosomal Alpha-D-Mannosidase Deficiency 57 73 20 43 58 72
Deficiency of Alpha-Mannosidase 12 43 29 6
Alpha-Mannosidase B Deficiency 57 43 72
Mannosidosis, Alpha-, Types I and Ii 57 13
Alpha-Mannosidase Deficiency 12 43
Alpha-D-Mannosidosis 12 43
Mannosidosis 43 54
Mansa 57 72
Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form 58
Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form 58
Alpha-Mannosidosis, Infantile Form 58
Alpha-Mannosidosis Types I and Ii 72
Mannosidosis, Alpha B Lysosomal 20
Mannosidase Deficiency Diseases 70
Alpha Mannosidase B Deficiency 20
Lysosomal Alpha B Mannosidosis 43
Alpha-Mannosidosis, Adult Form 58
Α-Mannosidosis 25

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
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:

31
mannosidosis, alpha b, lysosomal:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:3413
OMIM® 57 248500
KEGG 36 H00139
MeSH 44 D008363
NCIt 50 C84548
SNOMED-CT 67 65524005
MESH via Orphanet 45 D008363
ICD10 via Orphanet 33 E77.1
UMLS via Orphanet 71 C0024748
UMLS 70 C0024748 C1257960

Summaries for Mannosidosis, Alpha B, Lysosomal

MedlinePlus Genetics : 43 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), knock knees, and deterioration of the bones and joints.Affected individuals may also experience difficulty in coordinating movements (ataxia); muscle weakness (myopathy); delay in developing motor skills such as sitting and walking; speech impairments; increased risk of infections; enlargement of the liver and spleen (hepatosplenomegaly); a buildup of fluid in the brain (hydrocephalus); hearing loss; and a clouding of the lens of the eye (cataract). Some people with alpha-mannosidosis experience psychiatric symptoms such as depression, anxiety, or hallucinations; episodes of psychiatric disturbance may be triggered by stressors such as having undergone surgery, emotional upset, or changes in routine.The signs and symptoms of alpha-mannosidosis can range from mild to severe. The disorder may appear in infancy with rapid progression and severe neurological deterioration. Individuals with this early-onset form of alpha-mannosidosis often do not survive past childhood. In the most severe cases, an affected fetus may die before birth. Other individuals with alpha-mannosidosis experience milder signs and symptoms that appear later and progress more slowly. People with later-onset alpha-mannosidosis may survive into their fifties. The mildest cases may be detected only through laboratory testing and result in few if any symptoms.

MalaCards based summary : Mannosidosis, Alpha B, Lysosomal, also known as alpha-mannosidosis, is related to mannosidosis, beta a, lysosomal and angiokeratoma, and has symptoms including gait ataxia and muscle spasticity. 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 eye, bone marrow and spleen, and related phenotypes are intellectual disability and macroglossia

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.

GARD : 20 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.

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) (Updated 20-May-2021)

KEGG : 36 Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-mannosidase in glycoprotein catabolism. The enzymatic defect results in the accumulation of mannose-rich oligosaccharides in many organs. Alpha-mannosidosis is characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and mental retardation. The disorder has been described as two distinct phenotypes: a severe form with hepatomegaly and early death following severe infections (type 1) and a mild form with hearing loss and mental retardation (type 2).

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 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 top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 mannosidosis, beta a, lysosomal 32.7 MANBA MAN2B1 MAN2A1 CTBS
2 angiokeratoma 30.0 MANBA FUCA2 FUCA1
3 mucolipidosis 30.0 MAN2B1 IDUA CLN6
4 glycoproteinosis 29.7 FUCA2 CLN6
5 fucosidosis 29.7 MAN2B1 IDUA FUCA2 FUCA1
6 mucolipidosis ii alpha/beta 29.6 MANBA IDUA GUSB FUCA1
7 gaucher's disease 29.5 LIPA IDUA GUSB
8 mucopolysaccharidoses 29.5 SGSH IDUA GUSB
9 lysosomal storage disease 29.5 SGSH MANBA MAN2B1 LIPA IDUA GUSB
10 gm1 gangliosidosis 29.3 SGSH IDUA CLN6
11 mucopolysaccharidosis, type iiia 28.7 SGSH LIPA IDUA GUSB CLN6
12 scheie syndrome 28.5 SGSH MAN2B1 IDUA GUSB FUCA2 FUCA1
13 mucopolysaccharidosis-plus syndrome 28.3 SGSH MAN2B1 LIPA IDUA GUSB FUCA2
14 alacrima, achalasia, and mental retardation syndrome 10.3
15 dysostosis 10.3
16 lysosomal storage disease with skeletal involvement 10.3
17 autosomal recessive disease 10.3
18 mucopolysaccharidosis, type vi 10.3 IDUA GUSB
19 ataxia and polyneuropathy, adult-onset 10.2
20 branchiootic syndrome 1 10.2
21 kala-azar 1 10.1
22 leishmaniasis 10.1
23 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 10.1 IDUA CLN6
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
25 umbilical hernia 10.1
26 sensorineural hearing loss 10.1
27 hydrocephalus 10.1
28 central nervous system disease 10.1
29 myopathy 10.1
30 inherited metabolic disorder 10.1
31 fundus dystrophy 10.1
32 nervous system disease 10.1
33 inherited retinal disorder 10.1
34 ceroid lipofuscinosis, neuronal, 9 10.1 MFSD8 CLN6
35 visual epilepsy 10.1 MFSD8 CLN6
36 progressive myoclonus epilepsy 3 10.0 MFSD8 CLN6
37 laryngotracheitis 10.0 FUCA2 FUCA1
38 malaria 10.0
39 visceral leishmaniasis 10.0
40 ceroid lipofuscinosis, neuronal, 11 10.0 MFSD8 CLN6
41 ceroid lipofuscinosis, neuronal, 13 10.0 MFSD8 CLN6
42 plica syndrome 10.0
43 pigmented villonodular synovitis 10.0
44 synovitis 10.0
45 villonodular synovitis 10.0
46 avascular necrosis 10.0
47 sandhoff disease 10.0 MAN2B1 CTBS CLN6
48 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.0 MFSD8 CLN6
49 skin hemangioma 10.0 MANBA FUCA2 FUCA1
50 spinocerebellar ataxia, autosomal recessive 7 10.0 MFSD8 CLN6

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

Human phenotypes related to Mannosidosis, Alpha B, Lysosomal:

58 31 (show top 50) (show all 147)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001249
2 macroglossia 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%),Occasional (29-5%) HP:0000158
3 coarse facial features 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000280
4 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
5 cataract 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%),Occasional (29-5%) HP:0000518
6 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
8 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
9 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
10 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
11 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
12 depressed nasal bridge 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0005280
13 type ii diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005978
14 corneal opacity 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%),Very rare (<4-1%) HP:0007957
15 hypoplastic inferior ilia 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0008821
16 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0000750
17 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001256
18 dysostosis multiplex 58 31 hallmark (90%) Very frequent (99-80%) HP:0000943
19 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0002721
20 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
21 oligosacchariduria 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010471
22 otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000388
23 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012379
24 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
25 ataxia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001251
26 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
27 short neck 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0000470
28 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
29 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
30 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
31 hypertelorism 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000316
32 prominent supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000336
33 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
34 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
35 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
36 bowing of the long bones 58 31 frequent (33%) Frequent (79-30%) HP:0006487
37 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
38 abnormality of the helix 58 31 frequent (33%) Frequent (79-30%) HP:0011039
39 generalized abnormality of skin 58 31 frequent (33%) Frequent (79-30%) HP:0011354
40 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
41 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
42 myopia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000545
43 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
44 pneumonia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002090
45 mixed hearing impairment 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000410
46 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001433
47 short attention span 58 31 frequent (33%) Frequent (79-30%) HP:0000736
48 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
49 facial shape deformation 58 31 frequent (33%) Frequent (79-30%) HP:0011334
50 asthenia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0025406

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly
flat occiput

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

Abdomen Spleen:
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 Ears:
sensorineural deafness
large ears

Head And Neck Nose:
flat nose

Growth Other:
growth retardation in severe cases

Chest Ribs Sternum Clavicles And Scapulae:
thick, undertubulated ribs

Skeletal Limbs:
bowed femurs

Neurologic Central Nervous System:
spasticity
hyperreflexia
nystagmus
dysarthria
gait ataxia
more
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 Eyes:
epicanthal folds
heavy eyebrows
lenticular 'spoke-like' opacities
retinal degeneration in adult patients, progressive
impaired smooth pursuit in adult patients
more
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 (Updated 20-May-2021)

UMLS symptoms related to Mannosidosis, Alpha B, Lysosomal:


gait ataxia; muscle spasticity

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 CLN6 FUCA1 GUSB IDUA LIPA MAN1B1
2 hematopoietic system MP:0005397 10.15 CLN6 CTBS GUSB IDUA LIPA MAN2A1
3 cellular MP:0005384 10.1 CTBS FUCA1 GUSB IDUA LIPA MAN2A1
4 homeostasis/metabolism MP:0005376 10.1 CLN6 CTBS FUCA1 GUSB IDUA LIPA
5 cardiovascular system MP:0005385 10.09 CLN6 CTBS FUCA1 IDUA LIPA MAN2B1
6 immune system MP:0005387 10 CTBS IDUA LIPA MAN2A1 MAN2B1 MAN2B2
7 liver/biliary system MP:0005370 9.81 CTBS IDUA LIPA MAN2A1 MAN2B1 MAN2C1
8 nervous system MP:0003631 9.61 CLN6 FUCA1 IDUA LIPA MAN2B1 MAN2C1
9 renal/urinary system MP:0005367 9.36 CTBS FUCA1 GUSB IDUA LIPA MAN2A1

Drugs & Therapeutics for Mannosidosis, Alpha B, Lysosomal

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

(show all 48)
# 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
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
6
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
7
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
8
tannic acid Approved Phase 2 1401-55-4
9
Mesna Approved, Investigational Phase 2 3375-50-6 598
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Mycophenolic acid Approved Phase 2 24280-93-1 446541
12
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
13
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
14
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
15
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
16
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
17
Tocopherol Approved, Investigational Phase 2 1406-66-2
18
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
19
rituximab Approved Phase 2 174722-31-7 10201696
20
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
21
Busulfan Approved, Investigational Phase 2 55-98-1 2478
22
alemtuzumab Approved, Investigational Phase 2 216503-57-0
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
24
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
25 Tocotrienol Investigational Phase 2 6829-55-6
26 Methylprednisolone Acetate Phase 2
27 Anti-Bacterial Agents Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Antitubercular Agents Phase 2
30 Antifungal Agents Phase 2
31 Cyclosporins Phase 2
32 Anti-Infective Agents Phase 2
33 Dermatologic Agents Phase 2
34 Calcineurin Inhibitors Phase 2
35 Antilymphocyte Serum Phase 2
36 Thymoglobulin Phase 1, Phase 2
37 Alpha-lipoic Acid Phase 2
38 Tocotrienols Phase 2
39 Vitamins Phase 2
40 N-monoacetylcystine Phase 2
41 Thioctic Acid Phase 2
42 Tocopherols Phase 2
43 Antirheumatic Agents Phase 2
44 Alkylating Agents Phase 2
45 Immunosuppressive Agents Phase 2
46 Immunologic Factors Phase 2
47 Antineoplastic Agents, Immunological Phase 2
48 polysaccharide-K

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 A Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis. Completed NCT01681953 Phase 3 Lamazym;Placebo
2 A Single Center, Open Label Clinical Trial Investigating the Long-term Efficacy of rhLAMAN (Recombinant Human Alpha-mannosidase or Lamazym) Treatment in Subjects With Alpha-Mannosidosis Who Previously Participated in Lamazym Trials Completed NCT02478840 Phase 3 Lamazym
3 A Single-center, Un-controlled, Open-labeled Trial of the Long-term Safety of Lamazym Aftercare Treatment of Subjects With Alpha-Mannosidosis Whom Previously Participated in Lamazym Trials Active, not recruiting NCT01908725 Phase 3 Lamazym
4 A Multi-center, Un-controlled, Open-labeled Trial of the Long-term Safety of Lamazym Aftercare Treatment of Subjects With Alpha-Mannosidosis Whom Previously Participated in Lamazym Trials Enrolling by invitation NCT01908712 Phase 3 Lamazym
5 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Group, Phase 3 Study to Evaluate the Efficacy and Safety of Velmanase Alfa in Patients With Alpha Mannosidosis Withdrawn NCT04031066 Phase 3 Velmanase Alfa;Placebo
6 A Single Center, Randomized, Open-label, Multiple-dose Study of the Efficacy and Long-term Safety of rhLAMAN (Recombinant Human Alpha-mannosidase or Lamazym) for the Treatment of Patients With Alpha-mannosidosis. Unknown status NCT01285700 Phase 2 Lamazym
7 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
8 A Multi-Center, Open-Label Trial of the Long-term Efficacy and Safety of Lamazym for the Treatment of Patients With Alpha-Mannosidosis Completed NCT01681940 Phase 2 Lamazym
9 A 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated Velmanase Alfa (Recombinant Human Alpha-mannosidase) Treatment in Pediatric Patients Below 6 Years of Age With Alpha-Mannosidosis Completed NCT02998879 Phase 2 Velmanase Alfa (e.g. Lamazym)
10 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
11 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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)
12 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
13 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
14 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
15 A Single Center, Open-label, Dose Escalation Study of the Safety and Pharmacokinetics of rhLAMAN (Recombinant Human Alpha-mannosidase or Lamazym) for the Treatment of Patients With Alpha-mannosidosis. Completed NCT01268358 Phase 1 Lamazym
16 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
17 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
18 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
19 A Multicenter, Multinational Study That Will Evaluate Clinical and Surrogate Parameters Known to be Affected in Alpha-Mannosidosis Patients Completed NCT00498420
20 Clinical Biomarkers in Alpha-Mannosidosis Completed NCT02141503
21 European Alpha-Mannosidosis Participant: An International, Multicenter, Epidemiological Protocol Recruiting NCT03651245
22 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
23 Biomarker for Mannosidosis Disease - An International, Multicenter, Epidemiological Protocol Active, not recruiting NCT03264040

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.

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:

40
Eye, Bone Marrow, Spleen, Tongue, Bone, Brain, Cortex

Publications for Mannosidosis, Alpha B, Lysosomal

Articles related to Mannosidosis, Alpha B, Lysosomal:

(show top 50) (show all 229)
# Title Authors PMID Year
1
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. 25 57 6 61
22161967 2012
2
Spectrum of mutations in alpha-mannosidosis. 61 57 25 6
9915946 1999
3
A new variant of mannosidosis with increased residual enzymatic activity and mild clinical manifestation. 57 25 6
724292 1978
4
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. 61 6 57
9758606 1998
5
alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. 61 57 6
9158146 1997
6
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations. 61 6 25
21505070 2011
7
Alpha-mannosidosis. 25 57 61
18651971 2008
8
Phenotypic variability of mannosidosis type II: report of two Greek siblings. 6 57
1472354 1992
9
Mannosidosis: clinical, fine-structural and biochemical findings in three cases. 57 6
4358183 1973
10
amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis. 6 25
25762455 2015
11
Skeletal muscle pathology of mannosidosis in two siblings with spastic paraplegia. 57 25
4082921 1985
12
The clinical course of mannosidosis. 57 25
7149616 1982
13
Clinical manifestations of mannosidosis--a longitudinal study. 25 57
1008071 1976
14
Mannosidosis: phenotype of a severely affected child and characterization of alpha-mannosidase activity in cultured fibroblasts from the patient and his parents. 57 25
5584 1976
15
Mannosidosis: a clinical and histopathologic study. 25 57
4979627 1969
16
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis. 57 61
33317989 2021
17
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. 57 61
31241255 2019
18
Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group. 61 57
30792122 2019
19
Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis. 57 61
29716835 2018
20
Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations. 61 6
27396955 2016
21
Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function. 57 61
26212233 2016
22
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. 6 61
26048034 2015
23
The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option? 6 61
20165920 2010
24
A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation. 6 61
19958498 2009
25
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice. 57 61
18713755 2008
26
Early onset alpha-mannosidosis with slow progression in three Hispanic males. 6 61
17979865 2007
27
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. 61 6
15712269 2005
28
Adult alpha-mannosidosis: clinical progression in the absence of demyelination. 61 57
15534274 2004
29
Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study. 61 57
15269179 2004
30
Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. 61 6
15035660 2004
31
The structure of bovine lysosomal alpha-mannosidase suggests a novel mechanism for low-pH activation. 6 61
12634058 2003
32
Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosis. 6 61
14765545 2003
33
alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis. 61 6
11959458 2002
34
Alpha-Mannosidosis 61 6
20301570 2001
35
Alpha-mannosidosis in the guinea pig: a new animal model for lysosomal storage disorders. 57 61
10541310 1999
36
Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. 61 57
9396732 1997
37
Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis. 57 61
9208932 1997
38
Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. 57 61
8159689 1994
39
Oral zinc therapy in the treatment of alpha-mannosidosis. 61 57
8357013 1993
40
Alpha-mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation. 57 61
6705257 1984
41
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis. 25 61
29725868 2018
42
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial. 25 61
29846843 2018
43
Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice. 61 25
28720484 2017
44
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 6
27959697 2017
45
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. 6
26633546 2016
46
Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice. 61 25
26817023 2015
47
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
48
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment. 61 20
25345101 2014
49
Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation. 6
24353136 2014
50
Alpha-mannosidosis: a report of 2 siblings and review of the literature. 61 25
23307885 2014

Variations for Mannosidosis, Alpha B, Lysosomal

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

6 (show top 50) (show all 365)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAN2B1 NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) SNV Pathogenic 208266 rs368899357 GRCh37: 19:12768328-12768328
GRCh38: 19:12657514-12657514
2 MAN2B1 NM_000528.4(MAN2B1):c.1831-2A>G SNV Pathogenic 21208 rs80338678 GRCh37: 19:12763276-12763276
GRCh38: 19:12652462-12652462
3 MAN2B1 NM_000528.4(MAN2B1):c.2165+1G>A SNV Pathogenic 21209 rs80338679 GRCh37: 19:12760917-12760917
GRCh38: 19:12650103-12650103
4 MAN2B1 NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter) SNV Pathogenic 1686 rs121434332 GRCh37: 19:12763190-12763190
GRCh38: 19:12652376-12652376
5 MAN2B1 NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) SNV Pathogenic 551140 rs779769525 GRCh37: 19:12760211-12760211
GRCh38: 19:12649397-12649397
6 MAN2B1 NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) SNV Pathogenic 623335 rs781291011 GRCh37: 19:12769065-12769065
GRCh38: 19:12658251-12658251
7 MAN2B1 NC_000019.10:g.(?_12656561)_(12661386_?)del Deletion Pathogenic 644824 GRCh37: 19:12767375-12772200
GRCh38: 19:12656561-12661386
8 MAN2B1 NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) Duplication Pathogenic 661591 rs1599350640 GRCh37: 19:12768274-12768275
GRCh38: 19:12657460-12657461
9 MAN2B1 NM_000528.4(MAN2B1):c.2437-2A>G SNV Pathogenic 665784 rs1445197546 GRCh37: 19:12759218-12759218
GRCh38: 19:12648404-12648404
10 MAN2B1 NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs) Deletion Pathogenic 666350 rs1599337939 GRCh37: 19:12758091-12758106
GRCh38: 19:12647277-12647292
11 MAN2B1 NM_000528.4(MAN2B1):c.2670_2671del (p.Gly891fs) Deletion Pathogenic 812348 rs1599338484 GRCh37: 19:12758406-12758407
GRCh38: 19:12647592-12647593
12 MAN2B1 NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter) SNV Pathogenic 836978 GRCh37: 19:12776214-12776214
GRCh38: 19:12665400-12665400
13 MAN2B1 NM_000528.4(MAN2B1):c.426del (p.Val143fs) Deletion Pathogenic 844937 GRCh37: 19:12776176-12776176
GRCh38: 19:12665362-12665362
14 MAN2B1 NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer) Deletion Pathogenic 848854 GRCh37: 19:12763000-12763000
GRCh38: 19:12652186-12652186
15 MAN2B1 NM_000528.4(MAN2B1):c.1068dup (p.Ala357fs) Duplication Pathogenic 850839 GRCh37: 19:12769282-12769283
GRCh38: 19:12658468-12658469
16 MAN2B1 NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter) SNV Pathogenic 851283 GRCh37: 19:12763050-12763050
GRCh38: 19:12652236-12652236
17 MAN2B1 NM_000528.4(MAN2B1):c.2272del (p.Asp758fs) Deletion Pathogenic 857238 GRCh37: 19:12760238-12760238
GRCh38: 19:12649424-12649424
18 MAN2B1 NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer) Deletion Pathogenic 935839 GRCh37: 19:12775770-12775770
GRCh38: 19:12664956-12664956
19 MAN2B1 NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter) SNV Pathogenic 940305 GRCh37: 19:12776532-12776532
GRCh38: 19:12665718-12665718
20 MAN2B1 NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs) Deletion Pathogenic 945210 GRCh37: 19:12759078-12759094
GRCh38: 19:12648264-12648280
21 MAN2B1 NM_000528.4(MAN2B1):c.1534del (p.Val512fs) Deletion Pathogenic 948285 GRCh37: 19:12767495-12767495
GRCh38: 19:12656681-12656681
22 MAN2B1 NM_000528.4(MAN2B1):c.1223del (p.Phe408fs) Deletion Pathogenic 950911 GRCh37: 19:12769045-12769045
GRCh38: 19:12658231-12658231
23 MAN2B1 NM_000528.4(MAN2B1):c.896dup (p.Ala300fs) Duplication Pathogenic 952119 GRCh37: 19:12774143-12774144
GRCh38: 19:12663329-12663330
24 MAN2B1 NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter) SNV Pathogenic 959032 GRCh37: 19:12768902-12768902
GRCh38: 19:12658088-12658088
25 MAN2B1 NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter) SNV Pathogenic 962313 GRCh37: 19:12758083-12758083
GRCh38: 19:12647269-12647269
26 MAN2B1 NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) SNV Pathogenic 281152 rs775200333 GRCh37: 19:12768296-12768296
GRCh38: 19:12657482-12657482
27 MAN2B1 NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) SNV Pathogenic 552770 rs1406466561 GRCh37: 19:12758408-12758408
GRCh38: 19:12647594-12647594
28 MAN2B1 NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) SNV Pathogenic 633292 rs1429239930 GRCh37: 19:12775674-12775674
GRCh38: 19:12664860-12664860
29 MAN2B1 NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter) SNV Pathogenic 977716 GRCh37: 19:12774257-12774257
GRCh38: 19:12663443-12663443
30 MAN2B1 NM_000528.4(MAN2B1):c.1644+4A>G SNV Pathogenic 973591 GRCh37: 19:12767381-12767381
GRCh38: 19:12656567-12656567
31 MAN2B1 NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter) SNV Pathogenic 1028817 GRCh37: 19:12769040-12769040
GRCh38: 19:12658226-12658226
32 MAN2B1 NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) SNV Pathogenic 658737 rs1599344532 GRCh37: 19:12763177-12763177
GRCh38: 19:12652363-12652363
33 MAN2B1 NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) SNV Pathogenic 1687 rs80338680 GRCh37: 19:12760746-12760746
GRCh38: 19:12649932-12649932
34 MAN2B1 NM_000528.4(MAN2B1):c.1830+1G>C SNV Pathogenic 21207 rs80338677 GRCh37: 19:12766507-12766507
GRCh38: 19:12655693-12655693
35 MAN2B1 NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter) SNV Pathogenic 837291 GRCh37: 19:12763059-12763059
GRCh38: 19:12652245-12652245
36 MAN2B1 NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) SNV Pathogenic/Likely pathogenic 21210 rs80338681 GRCh37: 19:12759960-12759960
GRCh38: 19:12649146-12649146
37 MAN2B1 NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) SNV Pathogenic/Likely pathogenic 370997 rs1057516927 GRCh37: 19:12766651-12766651
GRCh38: 19:12655837-12655837
38 MAN2B1 NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) SNV Pathogenic/Likely pathogenic 554100 rs1008745697 GRCh37: 19:12760155-12760155
GRCh38: 19:12649341-12649341
39 MAN2B1 NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) SNV Pathogenic/Likely pathogenic 1685 rs121434331 GRCh37: 19:12760232-12760232
GRCh38: 19:12649418-12649418
40 MAN2B1 NM_000528.4(MAN2B1):c.1384_1385GC[2] (p.Arg463fs) Microsatellite Pathogenic/Likely pathogenic 848454 GRCh37: 19:12768290-12768291
GRCh38: 19:12657476-12657477
41 MAN2B1 NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) SNV Pathogenic/Likely pathogenic 328281 rs370803545 GRCh37: 19:12776184-12776184
GRCh38: 19:12665370-12665370
42 MAN2B1 NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) SNV Pathogenic/Likely pathogenic 189068 rs775200333 GRCh37: 19:12768296-12768296
GRCh38: 19:12657482-12657482
43 MAN2B1 NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) SNV Pathogenic/Likely pathogenic 189118 rs786204715 GRCh37: 19:12769242-12769242
GRCh38: 19:12658428-12658428
44 MAN2B1 NM_000528.4(MAN2B1):c.422del (p.Asp141fs) Deletion Pathogenic/Likely pathogenic 371425 rs778399351 GRCh37: 19:12776180-12776180
GRCh38: 19:12665366-12665366
45 MAN2B1 NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) Duplication Pathogenic/Likely pathogenic 370914 rs1057516864 GRCh37: 19:12758274-12758275
GRCh38: 19:12647460-12647461
46 MAN2B1 NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) Duplication Pathogenic/Likely pathogenic 195465 rs797044680 GRCh37: 19:12759983-12759984
GRCh38: 19:12649169-12649170
47 MAN2B1 NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) SNV Pathogenic/Likely pathogenic 208258 rs763257568 GRCh37: 19:12774595-12774595
GRCh38: 19:12663781-12663781
48 MAN2B1 NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) SNV Likely pathogenic 208284 rs864621993 GRCh37: 19:12760943-12760943
GRCh38: 19:12650129-12650129
49 MAN2B1 NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) SNV Likely pathogenic 208261 rs864621980 GRCh37: 19:12769296-12769296
GRCh38: 19:12658482-12658482
50 MAN2B1 NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter) SNV Likely pathogenic 370487 rs1057516524 GRCh37: 19:12769105-12769105
GRCh38: 19:12658291-12658291

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

72 (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

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:

36
# 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 extracellular exosome GO:0070062 9.86 SGSH MAN2B2 MAN2B1 MAN2A1 IDUA GUSB
2 lysosomal lumen GO:0043202 9.56 SGSH MANBA MAN2B2 MAN2B1 LIPA IDUA
3 azurophil granule lumen GO:0035578 9.46 MAN2B1 GUSB FUCA2 FUCA1
4 lysosome GO:0005764 9.36 SGSH MFSD8 MANBA MAN2B2 MAN2B1 LIPA
5 vacuolar membrane GO:0005774 9.32 MAN2B2 MAN2B1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.8 MANBA MAN2B1 GUSB FUCA2 FUCA1
2 metabolic process GO:0008152 9.7 MANBA MAN2C1 MAN2B2 MAN2B1 MAN2A1 MAN1B1
3 glycosaminoglycan catabolic process GO:0006027 9.62 SGSH IDUA GUSB FUCA1
4 mannose metabolic process GO:0006013 9.56 MAN2C1 MAN2B2 MAN2B1 MAN2A1
5 oligosaccharide catabolic process GO:0009313 9.55 MANBA MAN2C1 MAN2B2 MAN2B1 CTBS
6 N-glycan processing GO:0006491 9.49 MAN2A1 MAN1B1
7 glycosaminoglycan metabolic process GO:0030203 9.48 SGSH CLN6
8 protein deglycosylation GO:0006517 9.46 MAN2B1 MAN2A1
9 fucose metabolic process GO:0006004 9.43 FUCA2 FUCA1
10 glycoside catabolic process GO:0016139 9.37 FUCA2 FUCA1
11 carbohydrate metabolic process GO:0005975 9.36 MANBA MAN2C1 MAN2B2 MAN2B1 MAN2A1 MAN1B1

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.85 SGSH MAN2C1 MAN2B2 MAN2B1 MAN2A1 MAN1B1
2 hydrolase activity GO:0016787 9.77 SGSH MANBA MAN2C1 MAN2B2 MAN2B1 MAN2A1
3 carbohydrate binding GO:0030246 9.72 MAN2C1 MAN2B2 MAN2B1 MAN2A1 GUSB
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.56 MANBA IDUA GUSB CTBS
5 alpha-mannosidase activity GO:0004559 9.46 MAN2C1 MAN2B2 MAN2B1 MAN2A1
6 alpha-L-fucosidase activity GO:0004560 9.4 FUCA2 FUCA1
7 hydrolase activity, acting on glycosyl bonds GO:0016798 9.36 MANBA MAN2C1 MAN2B2 MAN2B1 MAN2A1 MAN1B1

Sources for Mannosidosis, Alpha B, Lysosomal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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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
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