MCID: MNN025
MIFTS: 54

Mannosidosis, Alpha-, Types I and Ii

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

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

MalaCards integrated aliases 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 71 42 14 69
Lysosomal Alpha-D-Mannosidase Deficiency 23 50 24 25 56 71
Deficiency of Alpha-Mannosidase 12 25 29
Alpha-Mannosidase B Deficiency 25 71
Alpha-Mannosidase Deficiency 12 25
Alpha-D-Mannosidosis 12 25
Alpha-Mannosidosis Types I and Ii 71
Mannosidosis, Alpha B, Lysosomal 71
Mannosidosis, Alpha B Lysosomal 50
Mannosidase Deficiency Diseases 69
Alpha Mannosidase B Deficiency 50
Lysosomal Alpha B Mannosidosis 25
Mannosidosis 25
Mansa 71

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;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Mannosidosis, Alpha-, Types I and Ii

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

MalaCards based summary : Mannosidosis, Alpha-, Types I and Ii, also known as alpha-mannosidosis, is related to mannosidosis, beta and alpha-mannosidosis, infantile form, and has symptoms including scoliosis, macroglossia and recurrent respiratory infections. 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 Busulfan and Cyclophosphamide 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

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.

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.

OMIM : 54
Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). (248500)

UniProtKB/Swiss-Prot : 71 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.

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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
delayed psychomotor development
nystagmus
dysarthria
hyperreflexia
more
Head And Neck- Mouth:
macroglossia
gingival hypertrophy

Abdomen- Liver:
hepatomegaly

Head And Neck- Ears:
large ears
sensorineural deafness

Skeletal:
dysostosis multiplex

Chest- External Features:
pectus carinatum

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

Head And Neck- Teeth:
widely-spaced teeth

Head And Neck- Nose:
flat nose

Growth- Other:
growth retardation in severe cases

Skeletal- Skull:
thickening of the calvaria

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

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

Abdomen- Spleen:
splenomegaly

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
Hematology:
vacuolated lymphocytes

Head And Neck- Head:
macrocephaly
flat occiput

Immunology:
recurrent bacterial infections
decreased serum immunoglobulin

Skeletal- Limbs:
bowed femurs

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

Chest- Ribs Sternum Clavicles And Scapulae:
thick, undertubulated ribs

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


Clinical features from OMIM:

248500

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

56 32 (show top 50) (show all 76)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
2 macroglossia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000158
3 recurrent respiratory infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0002205
4 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
5 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001744
6 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
7 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
8 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
9 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
10 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 narrow palate 56 32 frequent (33%) Frequent (79-30%) HP:0000189
12 hallucinations 56 32 occasional (7.5%) Occasional (29-5%) HP:0000738
13 short neck 56 32 frequent (33%) Frequent (79-30%) HP:0000470
14 macrocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000256
15 inguinal hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000023
16 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
17 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
18 arthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001369
19 widely spaced teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000687
20 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
21 dental malocclusion 56 32 occasional (7.5%) Occasional (29-5%) HP:0000689
22 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
23 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
24 hypoplastic inferior ilia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008821
25 hip dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0001385
26 prominent supraorbital ridges 56 32 frequent (33%) Frequent (79-30%) HP:0000336
27 corneal opacity 56 32 hallmark (90%) Very frequent (99-80%) HP:0007957
28 hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000365
29 chronic otitis media 56 32 frequent (33%) Frequent (79-30%) HP:0000389
30 open bite 56 32 frequent (33%) Frequent (79-30%) HP:0010807
31 bowing of the long bones 56 32 frequent (33%) Frequent (79-30%) HP:0006487
32 increased intracranial pressure 56 32 occasional (7.5%) Occasional (29-5%) HP:0002516
33 macrotia 56 32 frequent (33%) Frequent (79-30%) HP:0000400
34 type ii diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0005978
35 gingival overgrowth 56 32 frequent (33%) Frequent (79-30%) HP:0000212
36 craniofacial hyperostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004493
37 mandibular prognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000303
38 aseptic necrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0010885
39 abnormality of the helix 56 32 frequent (33%) Frequent (79-30%) HP:0011039
40 generalized abnormality of skin 56 32 frequent (33%) Frequent (79-30%) HP:0011354
41 synostosis of joints 56 32 occasional (7.5%) Occasional (29-5%) HP:0100240
42 hypertrichosis 32 HP:0000998
43 nystagmus 32 HP:0000639
44 dysarthria 32 HP:0001260
45 hyperreflexia 32 HP:0001347
46 spasticity 32 HP:0001257
47 dysostosis multiplex 32 HP:0000943
48 vacuolated lymphocytes 32 HP:0001922
49 femoral bowing 32 HP:0002980
50 frontal bossing 32 HP:0002007

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 MAN2B1 MANBA CTSA GAA
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 all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
3
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
5 Alkylating Agents Phase 2
6 Antilymphocyte Serum Phase 2
7 Antirheumatic Agents Phase 2
8 Immunosuppressive Agents Phase 2
9 Methylprednisolone acetate Phase 2
10 Methylprednisolone Hemisuccinate Phase 2
11 Prednisolone acetate Phase 2
12 Prednisolone hemisuccinate Phase 2
13 Prednisolone phosphate Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
2 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2

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:

71 (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 GRCh38 Chromosome 19, 12648174: 12648174
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 GRCh38 Chromosome 19, 12657004: 12657008
22 MAN2B1 NM_000528.3(MAN2B1): c.1309+1G> T single nucleotide variant Likely pathogenic rs1057516745 GRCh38 Chromosome 19, 12658062: 12658062
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 GRCh38 Chromosome 19, 12658291: 12658291
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 GRCh38 Chromosome 19, 12666541: 12666541
30 MAN2B1 NM_000528.3(MAN2B1): c.93dupG (p.Leu32Alafs) duplication Likely pathogenic rs1057516972 GRCh38 Chromosome 19, 12666609: 12666609
31 MAN2B1 NM_000528.3(MAN2B1): c.53_54insT (p.Ala19Serfs) insertion Likely pathogenic rs1057516810 GRCh38 Chromosome 19, 12666648: 12666649

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, 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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