MCID: ALP056
MIFTS: 15

Alpha-Mannosidosis, Adult Form

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

Aliases & Classifications for Alpha-Mannosidosis, Adult Form

MalaCards integrated aliases for Alpha-Mannosidosis, Adult Form:

Name: Alpha-Mannosidosis, Adult Form 58
Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form 58

Classifications:

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


Summaries for Alpha-Mannosidosis, Adult Form

MalaCards based summary : Alpha-Mannosidosis, Adult Form, is also known as lysosomal alpha-d-mannosidase deficiency, adult form. An important gene associated with Alpha-Mannosidosis, Adult Form is MAN2B1 (Mannosidase Alpha Class 2B Member 1). Affiliated tissues include eye and bone, and related phenotypes are intellectual disability, mild and oligosacchariduria

Related Diseases for Alpha-Mannosidosis, Adult Form

Symptoms & Phenotypes for Alpha-Mannosidosis, Adult Form

Human phenotypes related to Alpha-Mannosidosis, Adult Form:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
2 oligosacchariduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0010471
3 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
4 asthenia 58 31 frequent (33%) Frequent (79-30%) HP:0025406
5 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
6 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
7 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
8 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
9 immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002721
10 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
11 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
12 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
13 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
14 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
15 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
16 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
17 pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002090
18 mixed hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000410
19 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
20 confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001289
21 drowsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002329
22 subcortical cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012157
23 delusions 58 31 occasional (7.5%) Occasional (29-5%) HP:0000746
24 recurrent gastroenteritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0031123
25 corneal opacity 58 31 very rare (1%) Very rare (<4-1%) HP:0007957
26 optic disc pallor 58 31 very rare (1%) Very rare (<4-1%) HP:0000543
27 aortic regurgitation 58 31 very rare (1%) Very rare (<4-1%) HP:0001659
28 pancytopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001876
29 behavioral abnormality 58 Occasional (29-5%)
30 recurrent infections 58 Frequent (79-30%)

Drugs & Therapeutics for Alpha-Mannosidosis, Adult Form

Search Clinical Trials , NIH Clinical Center for Alpha-Mannosidosis, Adult Form

Genetic Tests for Alpha-Mannosidosis, Adult Form

Anatomical Context for Alpha-Mannosidosis, Adult Form

MalaCards organs/tissues related to Alpha-Mannosidosis, Adult Form:

40
Eye, Bone

Publications for Alpha-Mannosidosis, Adult Form

Variations for Alpha-Mannosidosis, Adult Form

Expression for Alpha-Mannosidosis, Adult Form

Search GEO for disease gene expression data for Alpha-Mannosidosis, Adult Form.

Pathways for Alpha-Mannosidosis, Adult Form

GO Terms for Alpha-Mannosidosis, Adult Form

Sources for Alpha-Mannosidosis, Adult Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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