MANSA
MCID: MNN047
MIFTS: 64

Mannosidosis, Alpha B, Lysosomal (MANSA)

Categories: Bone diseases, Eye diseases, Genetic diseases, Mental 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 56 73 37 39
Alpha-Mannosidosis 56 12 74 24 52 25 58 73 36 43 15 71
Lysosomal Alpha-D-Mannosidase Deficiency 56 74 52 25 58 73
Deficiency of Alpha-Mannosidase 12 25 29 6
Alpha-Mannosidase B Deficiency 56 25 73
Mannosidosis, Alpha-, Types I and Ii 56 13
Alpha-Mannosidase Deficiency 12 25
Alpha-D-Mannosidosis 12 25
Mannosidosis 25 54
Mansa 56 73
Alpha-Mannosidosis Types I and Ii 73
Mannosidosis, Alpha B Lysosomal 52
Mannosidase Deficiency Diseases 71
Alpha Mannosidase B Deficiency 52
Lysosomal Alpha B Mannosidosis 25
Α-Mannosidosis 24

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:

56
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


Summaries for Mannosidosis, Alpha B, Lysosomal

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), 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 inherited metabolic disorder, 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 bone, bone marrow and brain, 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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 142)
# Related Disease Score Top Affiliating Genes
1 mannosidosis, beta a, lysosomal 34.0 MANEA MANBA MAN2B1 MAN2A1
2 inherited metabolic disorder 29.9 NAGLU IGF2R ARSA
3 mucopolysaccharidoses 29.9 NAGLU GUSB
4 mucolipidosis ii alpha/beta 29.8 IGF2R GUSB
5 lysosomal storage disease 29.7 NAGLU MANBA MAN2B1 IGF2R GUSB ARSA
6 krabbe disease 29.6 NAGLU IGF2R ARSA
7 gm2 gangliosidosis 29.6 NAGLU IGF2R ARSA
8 metachromatic leukodystrophy 29.5 NAGLU IGF2R ARSA
9 mucopolysaccharidosis-plus syndrome 29.5 NAGLU IGF2R GUSB ARSA
10 aspartylglucosaminuria 29.5 SLC17A5 IGF2R ARSA
11 mucolipidosis 29.5 SLC17A5 MAN2B1 IGF2R ARSA
12 gm1 gangliosidosis 29.3 SLC17A5 NAGLU ARSA
13 fucosidosis 29.3 SLC17A5 NAGLU MAN2B1 IGF2R
14 scheie syndrome 29.2 NAGLU MAN2B1 IGF2R GUSB ARSA
15 alpha-mannosidosis, infantile form 12.5
16 alpha-mannosidosis, adult form 12.5
17 alacrima, achalasia, and mental retardation syndrome 10.5
18 dysostosis 10.5
19 lysosomal storage disease with skeletal involvement 10.5
20 autosomal recessive disease 10.4
21 kala-azar 1 10.4
22 leishmaniasis 10.4
23 branchiootic syndrome 1 10.3
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
25 ataxia and polyneuropathy, adult-onset 10.3
26 visceral leishmaniasis 10.3
27 angiokeratoma 10.2
28 umbilical hernia 10.2
29 sensorineural hearing loss 10.2
30 hydrocephalus 10.2
31 central nervous system disease 10.2
32 myopathy 10.2
33 nervous system disease 10.2
34 mucopolysaccharidosis iv 10.2 IGF2R ARSA
35 schistosoma mansoni infection, susceptibility/ 10.1
36 major depressive disorder 10.1
37 malaria 10.1
38 schistosomiasis 10.1
39 mental depression 10.1
40 systemic scleroderma 10.1
41 cutaneous leishmaniasis 10.1
42 mucocutaneous leishmaniasis 10.1
43 depression 10.1
44 pigmented villonodular synovitis 10.1
45 synovitis 10.1
46 villonodular synovitis 10.1
47 rapidly involuting congenital hemangioma 10.1
48 avascular necrosis 10.1
49 communicating hydrocephalus 10.0
50 craniosynostosis 10.0

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 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
3 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
5 cataract 58 31 hallmark (90%) Very frequent (99-80%) 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 hallmark (90%) Very frequent (99-80%) HP:0005280
13 type ii diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005978
14 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
15 hypoplastic inferior ilia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008821
16 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
17 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
18 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
19 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
20 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
21 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
22 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
23 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
24 prominent supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000336
25 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
26 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
27 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
28 bowing of the long bones 58 31 frequent (33%) Frequent (79-30%) HP:0006487
29 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
30 abnormality of the helix 58 31 frequent (33%) Frequent (79-30%) HP:0011039
31 generalized abnormality of skin 58 31 frequent (33%) Frequent (79-30%) HP:0011354
32 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
33 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
34 widely spaced teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000687
35 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689
36 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
37 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
38 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
39 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
40 synostosis of joints 58 31 occasional (7.5%) Occasional (29-5%) HP:0100240
41 avascular necrosis 31 occasional (7.5%) HP:0010885
42 malar flattening 31 HP:0000272
43 frontal bossing 31 HP:0002007
44 spasticity 31 HP:0001257
45 hyperreflexia 31 HP:0001347
46 nystagmus 31 HP:0000639
47 dysarthria 31 HP:0001260
48 behavioral abnormality 58 Frequent (79-30%)
49 aseptic necrosis 58 Occasional (29-5%)
50 pectus carinatum 31 HP:0000768

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
flat occiput

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

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 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

UMLS symptoms related to Mannosidosis, Alpha B, Lysosomal:


gait ataxia, muscle spasticity

GenomeRNAi Phenotypes related to Mannosidosis, Alpha B, Lysosomal according to GeneCards Suite gene sharing:

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.83 IGF2R
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.83 ARSA IGF2R MAN2B1 SLC17A5 TAS2R42
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.83 SLC17A5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.83 SLC17A5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.83 SLC17A5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.83 SLC17A5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.83 IGF2R
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.83 ARSA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.83 ARSA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.83 ARSA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.83 MAN2B1 TAS2R42
12 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.83 ARSA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.83 SLC17A5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.83 ARSA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.83 TAS2R42
16 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.83 IGF2R
17 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.83 MAN2B1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.83 TAS2R42
19 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.83 IGF2R
20 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.83 TAS2R42
21 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 IGF2R
22 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.83 TAS2R42
23 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.83 SLC17A5
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.83 TAS2R42
25 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.83 IGF2R
26 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.83 ARSA
27 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.83 SLC17A5

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.02 ARSA GUSB IGF2R MAN2A1 MAN2B1 MAN2C1
2 immune system MP:0005387 9.91 ARSA MAN2A1 MAN2B1 MAN2B2 MAN2C1 MANBA
3 hearing/vestibular/ear MP:0005377 9.77 ARSA GUSB MAN2B1 NAGLU SLC17A5
4 liver/biliary system MP:0005370 9.63 IGF2R MAN2A1 MAN2B1 MAN2C1 MANBA NAGLU
5 nervous system MP:0003631 9.56 ARSA IGF2R MAN2B1 MAN2B2 MAN2C1 MANBA
6 renal/urinary system MP:0005367 9.17 GUSB IGF2R MAN2A1 MAN2B1 MAN2C1 MANBA

Drugs & Therapeutics for Mannosidosis, Alpha B, Lysosomal

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

(show all 50)
# 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
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
10
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
11
Mesna Approved, Investigational Phase 2 3375-50-6 598
12
Mycophenolic acid Approved Phase 2 24280-93-1 446541
13
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
14
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
15
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
16
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
17
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
18
rituximab Approved Phase 2 174722-31-7 10201696
19
Hydroxyurea Approved Phase 2 127-07-1 3657
20
Melphalan Approved Phase 2 148-82-3 4053 460612
21
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
22
Busulfan Approved, Investigational Phase 2 55-98-1 2478
23
alemtuzumab Approved, Investigational Phase 2 216503-57-0
24
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
25
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
26 Tocotrienol Investigational Phase 2 6829-55-6
27 Methylprednisolone Acetate Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Anti-Infective Agents Phase 2
30 Antitubercular Agents Phase 2
31 Anti-Bacterial Agents Phase 2
32 Dermatologic Agents Phase 2
33 Cyclosporins Phase 2
34 Antifungal Agents Phase 2
35 Calcineurin Inhibitors Phase 2
36 Thymoglobulin Phase 1, Phase 2
37 Antilymphocyte Serum Phase 2
38 N-monoacetylcystine Phase 2
39 Tocopherols Phase 2
40 Alpha-lipoic Acid Phase 2
41 Tocotrienols Phase 2
42 Antimetabolites Phase 2
43 Thioctic Acid Phase 2
44 Vitamins Phase 2
45 Alkylating Agents Phase 2
46 Immunosuppressive Agents Phase 2
47 Antirheumatic Agents Phase 2
48 Immunologic Factors Phase 2
49 Antineoplastic Agents, Immunological Phase 2
50 polysaccharide-K

Interventional clinical trials:

(show all 31)
# 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 Active, not recruiting 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 Not yet recruiting NCT04031066 Phase 3 Velmanase Alfa;Placebo
6 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
7 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
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 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
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 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
13 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
14 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
15 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 Active, not recruiting NCT02998879 Phase 2 Velmanase Alfa (e.g. Lamazym)
16 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
17 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
18 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
19 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
20 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
21 Physician Versus Computer Coding of Verbal Autopsies, a Randomised Control Trial Unknown status NCT02810366
22 A Multicenter, Multinational Study That Will Evaluate Clinical and Surrogate Parameters Known to be Affected in Alpha-Mannosidosis Patients Completed NCT00498420
23 Clinical Biomarkers in Alpha-Mannosidosis Completed NCT02141503
24 Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency Completed NCT00592540
25 Internet-based Support and Coaching for Young Adults With Neuropsychiatric Disorders - A Pilot Study Completed NCT02316145
26 Internet-based Support and Coaching for Adolescents and Young Adults With ADHD and Autism Spectrum Disorders - a Controlled Study Completed NCT02300597
27 Balancing Everyday Life - A Lifestyle Intervention for People With Psychiatric Disorders Completed NCT02619318
28 Cannabis and Psychosis. Randomized Clinical Trial: Specialized Addiction Treatment Versus Treatment as Usual for Young Patients With Cannabis Abuse and Psychosis Completed NCT00484302
29 Biomarker for Mannosidosis Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT03264040
30 An International, Multicentre, Epidemiological Study to Explore and Analyse the Prevalence of Alpha-Mannosidosis in a Cohort of 1.000 Suspected Patients, Based on the Patient's Clinical Symptoms and/or Positive Family Anamnesis Recruiting NCT03651245
31 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.

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
Bone, Bone Marrow, Brain, Eye, Testes, Liver, Spleen

Publications for Mannosidosis, Alpha B, Lysosomal

Articles related to Mannosidosis, Alpha B, Lysosomal:

(show top 50) (show all 216)
# Title Authors PMID Year
1
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. 61 24 56 6
22161967 2012
2
Spectrum of mutations in alpha-mannosidosis. 61 24 56 6
9915946 1999
3
A new variant of mannosidosis with increased residual enzymatic activity and mild clinical manifestation. 24 56 6
724292 1978
4
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. 61 56 6
9758606 1998
5
alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. 61 56 6
9158146 1997
6
Alpha-mannosidosis. 61 24 56
18651971 2008
7
Mannosidosis: clinical, fine-structural and biochemical findings in three cases. 56 6
4358183 1973
8
Skeletal muscle pathology of mannosidosis in two siblings with spastic paraplegia. 24 56
4082921 1985
9
The clinical course of mannosidosis. 24 56
7149616 1982
10
Clinical manifestations of mannosidosis--a longitudinal study. 24 56
1008071 1976
11
Mannosidosis: phenotype of a severely affected child and characterization of alpha-mannosidase activity in cultured fibroblasts from the patient and his parents. 24 56
5584 1976
12
Mannosidosis: a clinical and histopathologic study. 24 56
4979627 1969
13
Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function. 61 56
26212233 2016
14
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice. 61 56
18713755 2008
15
Adult alpha-mannosidosis: clinical progression in the absence of demyelination. 61 56
15534274 2004
16
Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study. 61 56
15269179 2004
17
Alpha-Mannosidosis 61 6
20301570 2001
18
Alpha-mannosidosis in the guinea pig: a new animal model for lysosomal storage disorders. 61 56
10541310 1999
19
Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. 61 56
9396732 1997
20
Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis. 61 56
9208932 1997
21
Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. 61 56
8159689 1994
22
Oral zinc therapy in the treatment of alpha-mannosidosis. 61 56
8357013 1993
23
Alpha-mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation. 61 56
6705257 1984
24
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. 61 24
29846843 2018
25
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis. 61 24
29725868 2018
26
Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice. 61 24
28720484 2017
27
Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice. 61 24
26817023 2015
28
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment. 61 52
25345101 2014
29
Alpha-mannosidosis: a report of 2 siblings and review of the literature. 61 24
23307885 2014
30
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients. 61 24
21552297 2012
31
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations. 61 24
21505070 2011
32
Clinical utility gene card for: α-mannosidosis. 6
21368911 2011
33
Retinal dystrophy in 2 brothers with α-Mannosidosis. 56
21670350 2011
34
Psychiatric symptoms in alpha-mannosidosis. 61 24
16207285 2005
35
Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes. 61 24
11014473 2000
36
Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister. 61 24
10447604 1999
37
Characterization of the human MANB gene encoding lysosomal alpha-D-mannosidase. 6
9370301 1997
38
[Alpha-mannosidosis]. 61 24
7900112 1995
39
Clinical and biochemical analysis of two families with type I and type II mannosidosis. 56
7702090 1995
40
Phenotypic variability of mannosidosis type II: report of two Greek siblings. 56
1472354 1992
41
Long-term follow-up of biochemical and cognitive functioning in patients with mannosidosis. 61 24
2712747 1989
42
Purification and comparison of the structures of human liver acidic alpha-D-mannosidases A and B. 56
3954735 1986
43
Identification of glycoprotein storage diseases by lectins: a new diagnostic method. 61 24
6501863 1984
44
Pancytopenia in mannosidosis. 56
6860058 1983
45
Mannosidosis in an adult. 56
7109418 1982
46
Hereditary neurovisceral mannosidosis associated with alpha-mannosidase deficiency in a family of Persian cats. 56
7136518 1982
47
Apparently normal extracellular acidic alpha-mannosidase in fibroblast cultures from patients with mannosidosis. 56
7081212 1982
48
Mannosidosis: two brothers with different degrees of disease severity. 56
7307317 1981
49
Unusual clinical and ultrastructural features in a boy with biochemically typical mannosidosis. 56
7211364 1980
50
Mannosidosis: patterns of storage and urinary excretion of oligosaccharides in the bovine model. 56
7436888 1980

Variations for Mannosidosis, Alpha B, Lysosomal

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

6 (show top 50) (show all 180) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAN2B1 NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)SNV Pathogenic 1686 rs121434332 19:12763190-12763190 19:12652376-12652376
2 MAN2B1 NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)SNV Pathogenic 1687 rs80338680 19:12760746-12760746 19:12649932-12649932
3 MAN2B1 NM_000528.4(MAN2B1):c.1830+1G>CSNV Pathogenic 21207 rs80338677 19:12766507-12766507 19:12655693-12655693
4 MAN2B1 NM_000528.4(MAN2B1):c.1831-2A>GSNV Pathogenic 21208 rs80338678 19:12763276-12763276 19:12652462-12652462
5 MAN2B1 NM_000528.4(MAN2B1):c.2165+1G>ASNV Pathogenic 21209 rs80338679 19:12760917-12760917 19:12650103-12650103
6 MAN2B1 NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)SNV Pathogenic 281152 rs775200333 19:12768296-12768296 19:12657482-12657482
7 MAN2B1 NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)SNV Pathogenic 552770 rs1406466561 19:12758408-12758408 19:12647594-12647594
8 MAN2B1 NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)SNV Pathogenic 551140 rs779769525 19:12760211-12760211 19:12649397-12649397
9 MAN2B1 NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)SNV Pathogenic 623335 rs781291011 19:12769065-12769065 19:12658251-12658251
10 MAN2B1 NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)SNV Pathogenic 633292 rs1429239930 19:12775674-12775674 19:12664860-12664860
11 MAN2B1 NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)SNV Pathogenic 658737 19:12763177-12763177 19:12652363-12652363
12 MAN2B1 NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)duplication Pathogenic 661591 19:12768274-12768275 19:12657460-12657461
13 MAN2B1 NC_000019.9:g.(?_12767375)_(12772200_?)deldeletion Pathogenic 644824 19:12767375-12772200 19:12656561-12661386
14 MAN2B1 NM_000528.4(MAN2B1):c.2437-2A>GSNV Pathogenic 665784 19:12759218-12759218 19:12648404-12648404
15 MAN2B1 NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs)deletion Pathogenic 666350 19:12758091-12758106 19:12647277-12647292
16 MAN2B1 NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)SNV Pathogenic/Likely pathogenic 554100 rs1008745697 19:12760155-12760155 19:12649341-12649341
17 MAN2B1 NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)SNV Pathogenic/Likely pathogenic 328281 rs370803545 19:12776184-12776184 19:12665370-12665370
18 MAN2B1 NM_000528.4(MAN2B1):c.422del (p.Asp141fs)deletion Pathogenic/Likely pathogenic 371425 rs778399351 19:12776180-12776180 19:12665366-12665366
19 MAN2B1 NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)SNV Pathogenic/Likely pathogenic 21210 rs80338681 19:12759960-12759960 19:12649146-12649146
20 MAN2B1 NM_000528.4(MAN2B1):c.2436+2T>CSNV Pathogenic/Likely pathogenic 93214 rs398123457 19:12759948-12759948 19:12649134-12649134
21 MAN2B1 NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)SNV Pathogenic/Likely pathogenic 1685 rs121434331 19:12760232-12760232 19:12649418-12649418
22 MAN2B1 NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)SNV Pathogenic/Likely pathogenic 189068 rs775200333 19:12768296-12768296 19:12657482-12657482
23 MAN2B1 NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)duplication Pathogenic/Likely pathogenic 195465 rs797044680 19:12759983-12759984 19:12649169-12649170
24 MAN2B1 NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)SNV Likely pathogenic 189118 rs786204715 19:12769242-12769242 19:12658428-12658428
25 MAN2B1 NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)SNV Likely pathogenic 208258 rs763257568 19:12774595-12774595 19:12663781-12663781
26 MAN2B1 NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)SNV Likely pathogenic 208254 rs864621977 19:12775646-12775646 19:12664832-12664832
27 MAN2B1 NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter)SNV Likely pathogenic 370219 rs1057516325 19:12776325-12776325 19:12665511-12665511
28 MAN2B1 NM_000528.4(MAN2B1):c.93dup (p.Leu32fs)duplication Likely pathogenic 371058 rs1057516972 19:12777422-12777423 19:12666608-12666609
29 MAN2B1 NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)insertion Likely pathogenic 370845 rs1057516810 19:12777462-12777463 19:12666648-12666649
30 MAN2B1 NM_000528.4(MAN2B1):c.1929-1G>TSNV Likely pathogenic 521235 rs763100457 19:12763085-12763085 19:12652271-12652271
31 MAN2B1 NM_000528.4(MAN2B1):c.2268-1G>CSNV Likely pathogenic 556424 rs1555706596 19:12760243-12760243 19:12649429-12649429
32 MAN2B1 NM_000528.4(MAN2B1):c.2165+1deldeletion Likely pathogenic 554301 rs1555706752 19:12760917-12760917 19:12650103-12650103
33 MAN2B1 NM_000528.4(MAN2B1):c.2820+1G>ASNV Likely pathogenic 555682 rs768734132 19:12758256-12758256 19:12647442-12647442
34 MAN2B1 NM_000528.4(MAN2B1):c.2436+1G>ASNV Likely pathogenic 556664 rs200036864 19:12759949-12759949 19:12649135-12649135
35 MAN2B1 NM_000528.4(MAN2B1):c.2922del (p.Gly975fs)deletion Likely pathogenic 370959 rs1057516897 19:12758048-12758048 19:12647234-12647234
36 MAN2B1 NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)duplication Likely pathogenic 370914 rs1057516864 19:12758274-12758275 19:12647460-12647461
37 MAN2B1 NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)SNV Likely pathogenic 370174 rs767323371 19:12758381-12758381 19:12647567-12647567
38 MAN2B1 NM_000528.4(MAN2B1):c.2664+1G>ASNV Likely pathogenic 371052 rs771953225 19:12758988-12758988 19:12648174-12648174
39 MAN2B1 NM_000528.4(MAN2B1):c.2047-1G>ASNV Likely pathogenic 371303 rs1057517166 19:12761037-12761037 19:12650223-12650223
40 MAN2B1 NM_000528.4(MAN2B1):c.1851del (p.Pro618fs)deletion Likely pathogenic 370172 rs1057516289 19:12763254-12763254 19:12652440-12652440
41 MAN2B1 NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs)deletion Likely pathogenic 370399 rs1057516459 19:12766555-12766564 19:12655741-12655750
42 MAN2B1 NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)SNV Likely pathogenic 370997 rs1057516927 19:12766651-12766651 19:12655837-12655837
43 MAN2B1 NM_000528.4(MAN2B1):c.1528-1G>TSNV Likely pathogenic 371368 rs561991886 19:12767502-12767502 19:12656688-12656688
44 MAN2B1 NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs)deletion Likely pathogenic 371492 rs1057517316 19:12767818-12767822 19:12657004-12657008
45 MAN2B1 NM_000528.4(MAN2B1):c.1309+1G>TSNV Likely pathogenic 370755 rs1057516745 19:12768876-12768876 19:12658062-12658062
46 MAN2B1 NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)deletion Likely pathogenic 371610 rs1057517408 19:12768890-12768906 19:12658076-12658092
47 MAN2B1 NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter)SNV Likely pathogenic 370487 rs1057516524 19:12769105-12769105 19:12658291-12658291
48 MAN2B1 NM_000528.4(MAN2B1):c.763+2_763+8deldeletion Likely pathogenic 371229 rs1057517108 19:12774509-12774515 19:12663695-12663701
49 MAN2B1 NM_000528.4(MAN2B1):c.446del (p.Glu149fs)deletion Likely pathogenic 370681 rs1057516682 19:12775790-12775790 19:12664976-12664976
50 MAN2B1 NM_000528.4(MAN2B1):c.2046+1G>TSNV Likely pathogenic 557350 rs1555707087 19:12762966-12762966 19:12652152-12652152

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

73 (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 9.8 NAGLU MAN2B2 MAN2B1 MAN2A1 IGF2R GUSB
2 lysosome GO:0005764 9.5 SLC17A5 NAGLU MANBA MAN2B1 IGF2R GUSB
3 azurophil granule lumen GO:0035578 9.33 MAN2B1 GUSB ARSA
4 vacuolar membrane GO:0005774 9.32 MAN2B2 MAN2B1
5 lysosomal lumen GO:0043202 9.1 NAGLU MANBA MAN2B2 MAN2B1 GUSB ARSA

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.77 MANBA MAN2B1 IGF2R GUSB ARSA
2 carbohydrate metabolic process GO:0005975 9.73 MANBA MAN2C1 MAN2B2 MAN2B1 MAN2A1 GUSB
3 protein deglycosylation GO:0006517 9.5 MAN2B2 MAN2B1 MAN2A1
4 oligosaccharide catabolic process GO:0009313 9.46 MANBA MAN2C1 MAN2B2 MAN2B1
5 glycosaminoglycan catabolic process GO:0006027 9.4 NAGLU GUSB
6 mannose metabolic process GO:0006013 9.26 MAN2C1 MAN2B2 MAN2B1 MAN2A1
7 metabolic process GO:0008152 9.17 NAGLU MANBA MAN2C1 MAN2B2 MAN2B1 MAN2A1

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 9.81 NAGLU MANEA MANBA MAN2C1 MAN2B2 MAN2B1
2 carbohydrate binding GO:0030246 9.65 MAN2C1 MAN2B2 MAN2B1 MAN2A1 GUSB
3 alpha-mannosidase activity GO:0004559 9.35 MANEA MAN2C1 MAN2B2 MAN2B1 MAN2A1
4 mannose binding GO:0005537 9.32 MANBA IGF2R
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.23 NAGLU MANEA MANBA MAN2C1 MAN2B2 MAN2B1

Sources for Mannosidosis, Alpha B, Lysosomal

3 CDC
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