MCID: MNN025
MIFTS: 41

Mannosidosis, Alpha-, Types I and Ii malady

Genetic diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases categories

Summaries for Mannosidosis, Alpha-, Types I and Ii

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OMIM:45 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 abnormality of the tongue, coarse facial features and hearing impairment. An important gene associated with Mannosidosis, Alpha-, Types I and Ii is MAN2B1 (mannosidase, alpha, class 2B, member 1). Affiliated tissues include bone, tongue and liver.

Disease Ontology:9 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:21 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.

GeneReviews summary for a-mannosidosis

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

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Sources:
45OMIM, 10diseasecard, 30LifeMap Discovery®, 9Disease Ontology, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 60UMLS, 22GTR, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

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

Name: Mannosidosis, Alpha-, Types I and Ii 45 10 30
Alpha-Mannosidosis 30 9 19 20 21 11 47 60
Lysosomal Alpha-D-Mannosidase Deficiency 19 21 47
Alpha-Mannosidase Deficiency 9 21 22
Deficiency of Alpha-Mannosidase 9 21
Alpha-D-Mannosidosis 9 21
 
Mannosidosis, Alpha B, Lysosomal 45
Mannosidase Deficiency Diseases 60
Alpha-Mannosidase B Deficiency 21
Lysosomal Alpha B Mannosidosis 21
Mannosidosis 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
alpha-mannosidosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age


External Ids:

OMIM45 248500
Disease Ontology9 DOID:3413
MeSH33 D008363
NCIt38 C84548
SNOMED-CT55 124466001, 65524005
Orphanet47 61
MESH via Orphanet34 D008363
ICD10 via Orphanet26 E77.1
UMLS via Orphanet61 C0024748

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

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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 for Mannosidosis, Alpha-, Types I and Ii

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Symptoms by clinical synopsis from OMIM:

248500

Clinical features from OMIM:

248500

Symptoms:

 47 (show all 43)
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • coarse face
  • corneal clouding/opacity/vascularisation
  • cataract/lens opacification
  • depressed nasal bridge
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • hearing loss/hypoacusia/deafness
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • dermal/subcutaneous infiltration/induration
  • storage liver disease
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • insulin-independent/type 2 diabetes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • delayed bone age
  • autosomal recessive inheritance
  • hypertelorism
  • prominent supraorbital ridge
  • dental malocclusion
  • thickened/hypertrophic/fibromatous gingivae
  • high vaulted/narrow palate
  • long/large ear
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • chronic/relapsing otitis
  • short neck
  • kyphosis
  • scoliosis
  • inguinal/inguinoscrotal/crural hernia
  • anomalies of skin, subcutaneous tissue and mucosae
  • hypotonia
  • psychic/behavioural troubles
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • prognathism/prognathia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • repeat respiratory infections
  • cranial hypertension
  • delirium/hallucination
  • synostosis
  • osteonecrosis/bone infarction
  • arthritis/synovitis/synovial proliferation

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

(show all 85)
id Description Frequency HPO Source Accession
1 abnormality of the tongue hallmark (90%) HP:0000157
2 coarse facial features hallmark (90%) HP:0000280
3 hearing impairment hallmark (90%) HP:0000365
4 cataract hallmark (90%) HP:0000518
5 splenomegaly hallmark (90%) HP:0001744
6 hepatomegaly hallmark (90%) HP:0002240
7 skeletal dysplasia hallmark (90%) HP:0002652
8 delayed skeletal maturation hallmark (90%) HP:0002750
9 craniofacial hyperostosis hallmark (90%) HP:0004493
10 depressed nasal bridge hallmark (90%) HP:0005280
11 type ii diabetes mellitus hallmark (90%) HP:0005978
12 opacification of the corneal stroma hallmark (90%) HP:0007759
13 cognitive impairment hallmark (90%) HP:0100543
14 abnormality of the palate typical (50%) HP:0000174
15 gingival overgrowth typical (50%) HP:0000212
16 hypertelorism typical (50%) HP:0000316
17 prominent supraorbital ridges typical (50%) HP:0000336
18 otitis media typical (50%) HP:0000388
19 macrotia typical (50%) HP:0000400
20 short neck typical (50%) HP:0000470
21 dental malocclusion typical (50%) HP:0000689
22 muscular hypotonia typical (50%) HP:0001252
23 scoliosis typical (50%) HP:0002650
24 kyphosis typical (50%) HP:0002808
25 abnormality of the hip bone typical (50%) HP:0003272
26 hernia of the abdominal wall typical (50%) HP:0004299
27 bowing of the long bones typical (50%) HP:0006487
28 abnormality of the helix typical (50%) HP:0011039
29 macrocephaly occasional (7.5%) HP:0000256
30 mandibular prognathia occasional (7.5%) HP:0000303
31 hallucinations occasional (7.5%) HP:0000738
32 arthritis occasional (7.5%) HP:0001369
33 recurrent respiratory infections occasional (7.5%) HP:0002205
34 increased intracranial pressure occasional (7.5%) HP:0002516
35 aseptic necrosis occasional (7.5%) HP:0010885
36 synostosis of joints occasional (7.5%) HP:0100240
37 autosomal recessive inheritance HP:0000007
38 inguinal hernia HP:0000023
39 macroglossia HP:0000158
40 gingival overgrowth HP:0000212
41 macrocephaly HP:0000256
42 malar flattening HP:0000272
43 coarse facial features HP:0000280
44 epicanthus HP:0000286
45 low anterior hairline HP:0000294
46 mandibular prognathia HP:0000303
47 broad forehead HP:0000337
48 macrotia HP:0000400
49 sensorineural hearing impairment HP:0000407
50 depressed nasal ridge HP:0000457
51 thick eyebrow HP:0000574
52 nystagmus HP:0000639
53 widely spaced teeth HP:0000687
54 pectus carinatum HP:0000768
55 dysostosis multiplex HP:0000943
56 hypertrichosis HP:0000998
57 intellectual disability HP:0001249
58 muscular hypotonia HP:0001252
59 spasticity HP:0001257
60 dysarthria HP:0001260
61 global developmental delay HP:0001263
62 cerebellar atrophy HP:0001272
63 hyperreflexia HP:0001347
64 growth delay HP:0001510
65 abnormality of the rib cage HP:0001547
66 splenomegaly HP:0001744
67 vacuolated lymphocytes HP:0001922
68 frontal bossing HP:0002007
69 gait ataxia HP:0002066
70 limb ataxia HP:0002070
71 hepatomegaly HP:0002240
72 thickened calvaria HP:0002684
73 recurrent bacterial infections HP:0002718
74 femoral bowing HP:0002980
75 spondylolisthesis HP:0003302
76 babinski sign HP:0003487
77 hypogammaglobulinemia HP:0004313
78 increased vertebral height HP:0004570
79 flat occiput HP:0005469
80 thoracolumbar kyphosis HP:0005619
81 corticospinal tract disease in lower limbs HP:0007163
82 spinocerebellar tract disease in lower limbs HP:0007232
83 impaired smooth pursuit HP:0007772
84 progressive retinal degeneration HP:0007893
85 midface retrusion HP:0011800

Drugs & Therapeutics for Mannosidosis, Alpha-, Types I and Ii

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Drug clinical trials:

Search ClinicalTrials for Mannosidosis, Alpha-, Types I and Ii

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
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), PMID: 22430083

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

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

id Genetic test Affiliating Genes
1 Alpha-Mannosidosis20 MAN2B1
2 Deficiency of Alpha-Mannosidase22

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

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

31
Bone, Tongue, Liver, Eye, Skin

Animal Models for Mannosidosis, Alpha-, Types I and Ii or affiliated genes

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Publications for Mannosidosis, Alpha-, Types I and Ii

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Variations for Mannosidosis, Alpha-, Types I and Ii

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

62 (show all 40)
id Symbol AA change Variation ID SNP ID
1MAN2B1p.His72LeuVAR_003338
2MAN2B1p.Thr355ProVAR_003342
3MAN2B1p.Pro356ArgVAR_003343
4MAN2B1p.Trp714ArgVAR_003346
5MAN2B1p.Arg750TrpVAR_003347
6MAN2B1p.Leu809ProVAR_003348
7MAN2B1p.His200LeuVAR_026412
8MAN2B1p.Ser453TyrVAR_026413
9MAN2B1p.Gly801AspVAR_026414
10MAN2B1p.Cys55PheVAR_068034
11MAN2B1p.Asp74GluVAR_068035
12MAN2B1p.Ala95ProVAR_068036
13MAN2B1p.Tyr99HisVAR_068037
14MAN2B1p.Asp159AsnVAR_068038
15MAN2B1p.Pro197ArgVAR_068039
16MAN2B1p.His200AsnVAR_068040
17MAN2B1p.Arg202ProVAR_068041
18MAN2B1p.Arg229TrpVAR_068042
19MAN2B1p.Pro263LeuVAR_068044
20MAN2B1p.Ser318LeuVAR_068046
21MAN2B1p.Leu352ProVAR_068048
22MAN2B1p.Pro379LeuVAR_068049
23MAN2B1p.Gly390CysVAR_068050
24MAN2B1p.Gly420ValVAR_068051
25MAN2B1p.His445TyrVAR_068052
26MAN2B1p.Gly451CysVAR_068053
27MAN2B1p.Ser453PheVAR_068054
28MAN2B1p.Val457GluVAR_068055
29MAN2B1p.Cys501SerVAR_068056
30MAN2B1p.Leu565ProVAR_068057
31MAN2B1p.Thr745ArgVAR_068059
32MAN2B1p.Gly800ArgVAR_068060
33MAN2B1p.Gly800TrpVAR_068061
34MAN2B1p.Gly891ArgVAR_068063
35MAN2B1p.Leu892ProVAR_068064
36MAN2B1p.Arg916CysVAR_068065
37MAN2B1p.Arg916HisVAR_068066
38MAN2B1p.Arg950ProVAR_068067
39MAN2B1p.Leu956ArgVAR_068068
40MAN2B1p.Phe1000SerVAR_068069

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1MAN2B1NM_000528.3(MAN2B1): c.215A> T (p.His72Leu)single nucleotide variantPathogenicrs387906261GRCh37Chr 19, 12776564: 12776564
2MAN2B1NM_000528.3(MAN2B1): c.2278C> T (p.Arg760Ter)single nucleotide variantPathogenicrs121434331GRCh37Chr 19, 12760232: 12760232
3MAN2B1NM_000528.3(MAN2B1): c.1915C> T (p.Gln639Ter)single nucleotide variantPathogenicrs121434332GRCh37Chr 19, 12763190: 12763190
4MAN2B1NM_000528.3(MAN2B1): c.2248C> T (p.Arg750Trp)single nucleotide variantPathogenicrs80338680GRCh37Chr 19, 12760746: 12760746
5MAN2B1NM_000528.3(MAN2B1): c.1067C> G (p.Pro356Arg)single nucleotide variantPathogenicrs121434333GRCh37Chr 19, 12769284: 12769284
6MAN2B1NM_000528.3(MAN2B1): c.1830+1G> Csingle nucleotide variantPathogenicrs80338677GRCh37Chr 19, 12766507: 12766507
7MAN2B1NM_000528.3(MAN2B1): c.1831-2A> Gsingle nucleotide variantPathogenicrs80338678GRCh37Chr 19, 12763276: 12763276
8MAN2B1NM_000528.3(MAN2B1): c.2165+1G> Asingle nucleotide variantPathogenicrs80338679GRCh37Chr 19, 12760917: 12760917
9MAN2B1NM_000528.3(MAN2B1): c.2426T> C (p.Leu809Pro)single nucleotide variantPathogenicrs80338681GRCh37Chr 19, 12759960: 12759960
10MAN2B1MAN2B1, IVS14DS, G-C, +1single nucleotide variantPathogenic

Expression for genes affiliated with Mannosidosis, Alpha-, Types I and Ii

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

Pathways for genes affiliated with Mannosidosis, Alpha-, Types I and Ii

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Compounds for genes affiliated with Mannosidosis, Alpha-, Types I and Ii

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GO Terms for genes affiliated with Mannosidosis, Alpha-, Types I and Ii

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Products for genes affiliated with Mannosidosis, Alpha-, Types I and Ii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mannosidosis, Alpha-, Types I and Ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet