MANSA
MCID: MNN025
MIFTS: 55

Mannosidosis, Alpha-, Types I and Ii (MANSA) malady

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

Aliases & Classifications for Mannosidosis, Alpha-, Types I and Ii

Aliases & Descriptions for Mannosidosis, Alpha-, Types I and Ii:

Name: Mannosidosis, Alpha-, Types I and Ii 54 13 38
Alpha-Mannosidosis 38 12 23 50 24 25 56 66 42 14 69
Lysosomal Alpha-D-Mannosidase Deficiency 23 50 24 25 56 66
Deficiency of Alpha-Mannosidase 12 25 29
Mannosidosis, Alpha B, Lysosomal 54 66
Alpha-Mannosidase B Deficiency 25 66
Alpha-Mannosidase Deficiency 12 25
Alpha-D-Mannosidosis 12 25
Alpha-Mannosidosis Types I and Ii 66
Mannosidosis, Alpha B Lysosomal 50
Mannosidase Deficiency Diseases 69
Alpha Mannosidase B Deficiency 50
Lysosomal Alpha B Mannosidosis 25
Mannosidosis 25
Mansa 66

Characteristics:

Orphanet epidemiological data:

56
alpha-mannosidosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),<1/1000000 (Sweden); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age;

HPO:

32
mannosidosis, alpha-, types i and ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 248500
Disease Ontology 12 DOID:3413
MeSH 42 D008363
NCIt 47 C84548
SNOMED-CT 64 124466001 65524005
Orphanet 56 ORPHA61
MESH via Orphanet 43 D008363
UMLS via Orphanet 70 C0024748
ICD10 via Orphanet 34 E77.1
UMLS 69 C0024748

Summaries for Mannosidosis, Alpha-, Types I and Ii

OMIM : 54 Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse... (248500) more...

MalaCards based summary : Mannosidosis, Alpha-, Types I and Ii, also known as alpha-mannosidosis, is related to mannosidosis and mannosidosis, beta, and has symptoms including macrocephaly, hypertelorism and short neck. An important gene associated with Mannosidosis, Alpha-, Types I and Ii is MAN2B1 (Mannosidase Alpha Class 2B Member 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. 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 behavior/neurological and cardiovascular system

NIH Rare Diseases : 50 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. last updated: 2/20/2017

UniProtKB/Swiss-Prot : 66 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.

GeneReviews: NBK1396

Related Diseases for Mannosidosis, Alpha-, Types I and Ii

Graphical network of the top 20 diseases related to Mannosidosis, Alpha-, Types I and Ii:



Diseases related to Mannosidosis, Alpha-, Types I and Ii

Symptoms & Phenotypes for Mannosidosis, Alpha-, Types I and Ii

Symptoms by clinical synopsis from OMIM:

248500

Clinical features from OMIM:

248500

Human phenotypes related to Mannosidosis, Alpha-, Types I and Ii:

56 32 (show top 50) (show all 76)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Occasional (29-5%) HP:0000256
2 hypertelorism 56 32 Frequent (79-30%) HP:0000316
3 short neck 56 32 Frequent (79-30%) HP:0000470
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
6 scoliosis 56 32 Frequent (79-30%) HP:0002650
7 kyphosis 56 32 Frequent (79-30%) HP:0002808
8 inguinal hernia 56 32 Frequent (79-30%) HP:0000023
9 macroglossia 56 32 Very frequent (99-80%) HP:0000158
10 narrow palate 56 32 Frequent (79-30%) HP:0000189
11 gingival overgrowth 56 32 Frequent (79-30%) HP:0000212
12 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
13 mandibular prognathia 56 32 Occasional (29-5%) HP:0000303
14 prominent supraorbital ridges 56 32 Frequent (79-30%) HP:0000336
15 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
16 chronic otitis media 56 32 Frequent (79-30%) HP:0000389
17 macrotia 56 32 Frequent (79-30%) HP:0000400
18 cataract 56 32 Very frequent (99-80%) HP:0000518
19 widely spaced teeth 56 32 Occasional (29-5%) HP:0000687
20 dental malocclusion 56 32 Occasional (29-5%) HP:0000689
21 hallucinations 56 32 Occasional (29-5%) HP:0000738
22 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
23 arthritis 56 32 Occasional (29-5%) HP:0001369
24 hip dysplasia 56 32 Frequent (79-30%) HP:0001385
25 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
26 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
27 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
28 increased intracranial pressure 56 32 Occasional (29-5%) HP:0002516
29 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
30 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
31 craniofacial hyperostosis 56 32 Very frequent (99-80%) HP:0004493
32 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
33 type ii diabetes mellitus 56 32 Very frequent (99-80%) HP:0005978
34 bowing of the long bones 56 32 Frequent (79-30%) HP:0006487
35 corneal opacity 56 32 Very frequent (99-80%) HP:0007957
36 hypoplastic inferior ilia 56 32 Very frequent (99-80%) HP:0008821
37 open bite 56 32 Frequent (79-30%) HP:0010807
38 aseptic necrosis 56 32 Occasional (29-5%) HP:0010885
39 abnormality of the helix 56 32 Frequent (79-30%) HP:0011039
40 generalized abnormality of skin 56 32 Frequent (79-30%) HP:0011354
41 synostosis of joints 56 32 Occasional (29-5%) HP:0100240
42 gait ataxia 32 HP:0002066
43 malar flattening 32 HP:0000272
44 frontal bossing 32 HP:0002007
45 nystagmus 32 HP:0000639
46 spasticity 32 HP:0001257
47 dysarthria 32 HP:0001260
48 hyperreflexia 32 HP:0001347
49 behavioral abnormality 56 Frequent (79-30%)
50 pectus carinatum 32 HP:0000768

UMLS symptoms related to Mannosidosis, Alpha-, Types I and Ii:


muscle spasticity, gait ataxia

MGI Mouse Phenotypes related to Mannosidosis, Alpha-, Types I and Ii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 CTSA GAA HEXA MAN2B1 MANBA
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-, Types I and Ii

Drugs for Mannosidosis, Alpha-, Types I and Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 58)
id 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
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
alemtuzumab Approved, Investigational Phase 2 216503-57-0
9
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
10
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
11
rituximab Approved Phase 2 174722-31-7 10201696
12
Thiotepa Approved Phase 2 52-24-4 5453
13
Acetaminophen Approved Phase 2 103-90-2 1983
14
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
15
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
16
Hydroxyurea Approved Phase 2 127-07-1 3657
17
Melphalan Approved Phase 2 148-82-3 4053 460612
18
Promethazine Approved Phase 2 60-87-7 4927
19
Vidarabine Approved Phase 2 24356-66-9 32326 21704
20
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
21
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
22
Mesna Approved Phase 2 3375-50-6 598
23
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
24
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
25
Mycophenolic acid Approved Phase 2 24280-93-1 446541
26
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
27 tannic acid Approved, Nutraceutical Phase 2
28 Alkylating Agents Phase 2
29 Antilymphocyte Serum Phase 2
30 Antineoplastic Agents, Alkylating Phase 2
31 Antirheumatic Agents Phase 2
32 Immunosuppressive Agents Phase 2
33 Methylprednisolone acetate Phase 2
34 Methylprednisolone Hemisuccinate Phase 2
35 Prednisolone acetate Phase 2
36 Prednisolone hemisuccinate Phase 2
37 Prednisolone phosphate Phase 2
38 Antimetabolites Phase 2
39 Antimetabolites, Antineoplastic Phase 2
40 N-monoacetylcystine Phase 2
41 Thioctic Acid Phase 2
42 Tocopherols Phase 2
43 Tocotrienols Phase 2
44 Vitamins Phase 2
45 Anti-Bacterial Agents Phase 2
46 Antibiotics, Antitubercular Phase 2
47 Anti-Infective Agents Phase 2
48 Antiviral Agents Phase 2
49 Epinephryl borate Phase 2
50 Nucleic Acid Synthesis Inhibitors Phase 2

Interventional clinical trials:

(show all 19)
id Name Status NCT ID Phase
1 A Placebo-Controlled Phase 3 Trial of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis Completed NCT01681953 Phase 3
2 Evaluation of Long-term Efficacy of Treatment With Lamazym Completed NCT02478840 Phase 3
3 Lamazym Aftercare Study Active, not recruiting NCT01908725 Phase 3
4 Lamazym Aftercare Study FR Designed to Provide Treatment for French Patients Active, not recruiting NCT01908712 Phase 3
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
7 Long-term Efficacy and Safety of Lamazym for the Treatment of Patients With Alpha-Mannosidosis Completed NCT01681940 Phase 2
8 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2
9 Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis Recruiting NCT02998879 Phase 2
10 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
11 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
12 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2
13 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
14 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
15 Safety Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis Completed NCT01268358 Phase 1
16 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
17 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
18 The Natural History of Alpha-Mannosidosis Completed NCT00498420
19 Clinical Biomarkers in Alpha-mannosidosis Recruiting NCT02141503

Search NIH Clinical Center for Mannosidosis, Alpha-, Types I and Ii

Cell-based therapeutics:


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

Cochrane evidence based reviews: alpha-mannosidosis

Genetic Tests for Mannosidosis, Alpha-, Types I and Ii

Genetic tests related to Mannosidosis, Alpha-, Types I and Ii:

id Genetic test Affiliating Genes
1 Deficiency of Alpha-Mannosidase 29
2 Alpha-Mannosidosis 24 MAN2B1

Anatomical Context for Mannosidosis, Alpha-, Types I and Ii

MalaCards organs/tissues related to Mannosidosis, Alpha-, Types I and Ii:

39
Bone, Tongue, Bone Marrow, Skin, Eye

Publications for Mannosidosis, Alpha-, Types I and Ii

Variations for Mannosidosis, Alpha-, Types I and Ii

UniProtKB/Swiss-Prot genetic disease variations for Mannosidosis, Alpha-, Types I and Ii:

66 (show all 40)
id 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
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
39 MAN2B1 p.Leu956Arg VAR_068068 rs768233248
40 MAN2B1 p.Phe1000Ser VAR_068069 rs864621991

ClinVar genetic disease variations for Mannosidosis, Alpha-, Types I and Ii:

6 (show all 31)
id 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.1915C> T (p.Gln639Ter) single nucleotide variant Pathogenic rs121434332 GRCh37 Chromosome 19, 12763190: 12763190
3 MAN2B1 NM_000528.3(MAN2B1): c.1830+1G> C single nucleotide variant Pathogenic rs80338677 GRCh37 Chromosome 19, 12766507: 12766507
4 MAN2B1 NM_000528.3(MAN2B1): c.1831-2A> G single nucleotide variant Pathogenic rs80338678 GRCh37 Chromosome 19, 12763276: 12763276
5 MAN2B1 NM_000528.3(MAN2B1): c.2165+1G> A single nucleotide variant Pathogenic rs80338679 GRCh37 Chromosome 19, 12760917: 12760917
6 MAN2B1 NM_000528.3(MAN2B1): c.2436+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs398123457 GRCh37 Chromosome 19, 12759948: 12759948
7 MAN2B1 NM_000528.3(MAN2B1): c.1383C> G (p.Tyr461Ter) single nucleotide variant Pathogenic/Likely pathogenic rs775200333 GRCh37 Chromosome 19, 12768296: 12768296
8 MAN2B1 NM_000528.3(MAN2B1): c.1109G> A (p.Trp370Ter) single nucleotide variant Likely pathogenic rs786204715 GRCh38 Chromosome 19, 12658428: 12658428
9 MAN2B1 NM_000528.3(MAN2B1): c.2402dupG (p.Ser802Glnfs) duplication Pathogenic rs797044680 GRCh37 Chromosome 19, 12759984: 12759984
10 MAN2B1 NM_000528.3(MAN2B1): c.1383C> A (p.Tyr461Ter) single nucleotide variant Pathogenic/Likely pathogenic rs775200333 GRCh37 Chromosome 19, 12768296: 12768296
11 MAN2B1 NM_000528.3(MAN2B1): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs370803545 GRCh38 Chromosome 19, 12665370: 12665370
12 MAN2B1 NM_000528.3(MAN2B1): c.2922delA (p.Gly975Alafs) deletion Likely pathogenic rs1057516897 GRCh38 Chromosome 19, 12647234: 12647234
13 MAN2B1 NM_000528.3(MAN2B1): c.2802dupC (p.Val935Argfs) duplication Likely pathogenic rs1057516864 GRCh38 Chromosome 19, 12647461: 12647461
14 MAN2B1 NM_000528.3(MAN2B1): c.2696C> A (p.Ser899Ter) single nucleotide variant Likely pathogenic rs767323371 GRCh38 Chromosome 19, 12647567: 12647567
15 MAN2B1 NM_000528.3(MAN2B1): c.2664+1G> A single nucleotide variant Likely pathogenic rs771953225 GRCh37 Chromosome 19, 12758988: 12758988
16 MAN2B1 NM_000528.3(MAN2B1): c.2047-1G> A single nucleotide variant Likely pathogenic rs1057517166 GRCh37 Chromosome 19, 12761037: 12761037
17 MAN2B1 NM_000528.3(MAN2B1): c.1851delT (p.Pro618Leufs) deletion Likely pathogenic rs1057516289 GRCh38 Chromosome 19, 12652440: 12652440
18 MAN2B1 NM_000528.3(MAN2B1): c.1774_1783delGCACCACAGC (p.Ala592Profs) deletion Likely pathogenic rs1057516459 GRCh37 Chromosome 19, 12766555: 12766564
19 MAN2B1 NM_000528.3(MAN2B1): c.1687G> T (p.Glu563Ter) single nucleotide variant Likely pathogenic rs1057516927 GRCh38 Chromosome 19, 12655837: 12655837
20 MAN2B1 NM_000528.3(MAN2B1): c.1528-1G> T single nucleotide variant Likely pathogenic rs561991886 GRCh38 Chromosome 19, 12656688: 12656688
21 MAN2B1 NM_000528.3(MAN2B1): c.1468_1472delTTCAC (p.Phe490Leufs) deletion Likely pathogenic rs1057517316 GRCh37 Chromosome 19, 12767818: 12767822
22 MAN2B1 NM_000528.3(MAN2B1): c.1309+1G> T single nucleotide variant Likely pathogenic rs1057516745 GRCh37 Chromosome 19, 12768876: 12768876
23 MAN2B1 NM_000528.3(MAN2B1): c.1280_1296del17 (p.Pro427Glnfs) deletion Likely pathogenic rs1057517408 GRCh38 Chromosome 19, 12658076: 12658092
24 MAN2B1 NM_000528.3(MAN2B1): c.1163G> A (p.Trp388Ter) single nucleotide variant Likely pathogenic rs1057516524 GRCh37 Chromosome 19, 12769105: 12769105
25 MAN2B1 NM_000528.3(MAN2B1): c.763+2_763+8del7 deletion Likely pathogenic rs1057517108 GRCh38 Chromosome 19, 12663695: 12663701
26 MAN2B1 NM_000528.3(MAN2B1): c.446delA (p.Glu149Glyfs) deletion Likely pathogenic rs1057516682 GRCh38 Chromosome 19, 12664976: 12664976
27 MAN2B1 NM_000528.3(MAN2B1): c.422delA (p.Asp141Alafs) deletion Likely pathogenic rs778399351 GRCh38 Chromosome 19, 12665366: 12665366
28 MAN2B1 NM_000528.3(MAN2B1): c.277C> T (p.Gln93Ter) single nucleotide variant Likely pathogenic rs1057516325 GRCh38 Chromosome 19, 12665511: 12665511
29 MAN2B1 NM_000528.3(MAN2B1): c.159+2T> C single nucleotide variant Likely pathogenic rs1057516501 GRCh37 Chromosome 19, 12777355: 12777355
30 MAN2B1 NM_000528.3(MAN2B1): c.93dupG (p.Leu32Alafs) duplication Likely pathogenic rs1057516972 GRCh37 Chromosome 19, 12777423: 12777423
31 MAN2B1 NM_000528.3(MAN2B1): c.53_54insT (p.Ala19Serfs) insertion Likely pathogenic rs1057516810 GRCh37 Chromosome 19, 12777462: 12777463

Expression for Mannosidosis, Alpha-, Types I and Ii

Search GEO for disease gene expression data for Mannosidosis, Alpha-, Types I and Ii.

Pathways for Mannosidosis, Alpha-, Types I and Ii

GO Terms for Mannosidosis, Alpha-, Types I and Ii

Cellular components related to Mannosidosis, Alpha-, Types I and Ii according to GeneCards Suite gene sharing:

id 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-, Types I and Ii according to GeneCards Suite gene sharing:

id 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-, Types I and Ii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.35 CTSA GAA HEXA MAN2B1 MANBA
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 GAA MAN2B1
3 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 GAA HEXA MAN2B1 MANBA

Sources for Mannosidosis, Alpha-, Types I and Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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