MCID: MN1002
MIFTS: 22

Man1b1-Cdg

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Man1b1-Cdg

MalaCards integrated aliases for Man1b1-Cdg:

Name: Man1b1-Cdg 52 58
Carbohydrate Deficient Glycoprotein Syndrome Type Ii Due to Man1b1 Deficiency 52 58
Congenital Disorder of Glycosylation Type Ii Due to Man1b1 Deficiency 52 58
Congenital Disorder of Glycosylation Type 2 Due to Man1b1 Deficiency 52 58
Intellectual Disability-Truncal Obesity Syndrome 52 58

Characteristics:

Orphanet epidemiological data:

58
man1b1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Man1b1-Cdg

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 397941 Definition MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability , delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3). Visit the Orphanet disease page for more resources.

MalaCards based summary : Man1b1-Cdg, also known as carbohydrate deficient glycoprotein syndrome type ii due to man1b1 deficiency, is related to congenital disorders of n-linked glycosylation and multiple pathway. An important gene associated with Man1b1-Cdg is MAN1B1 (Mannosidase Alpha Class 1B Member 1). Affiliated tissues include skin and brain, and related phenotypes are global developmental delay and infantile muscular hypotonia

Related Diseases for Man1b1-Cdg

Diseases related to Man1b1-Cdg via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorders of n-linked glycosylation and multiple pathway 10.3

Symptoms & Phenotypes for Man1b1-Cdg

Human phenotypes related to Man1b1-Cdg:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
3 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
4 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
5 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
6 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
7 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
8 truncal obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001956
9 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
10 type ii transferrin isoform profile 58 31 frequent (33%) Frequent (79-30%) HP:0012301
11 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
12 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
13 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
14 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
15 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
16 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
17 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
18 inverted nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0003186
19 joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001382
20 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
21 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
22 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
23 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
24 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
25 pointed chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000307
26 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
27 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
28 broad-based gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002136
29 prominent nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000448
30 sparse eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0045075
31 cutis laxa 58 31 occasional (7.5%) Occasional (29-5%) HP:0000973
32 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
33 polyphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002591
34 short chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000331
35 abnormal position of hair whorl 58 31 occasional (7.5%) Occasional (29-5%) HP:0010814
36 long eyebrows 58 31 occasional (7.5%) Occasional (29-5%) HP:0004523
37 underdeveloped nasolabial fold 58 31 occasional (7.5%) Occasional (29-5%) HP:0010801
38 seizure 31 occasional (7.5%) HP:0001250
39 thick vermilion border 58 31 very rare (1%) Very rare (<4-1%) HP:0012471
40 epicanthus 58 31 very rare (1%) Very rare (<4-1%) HP:0000286
41 multiple cafe-au-lait spots 58 31 very rare (1%) Very rare (<4-1%) HP:0007565
42 clinodactyly of the 5th finger 58 31 very rare (1%) Very rare (<4-1%) HP:0004209
43 long face 58 31 very rare (1%) Very rare (<4-1%) HP:0000276
44 flat occiput 58 31 very rare (1%) Very rare (<4-1%) HP:0005469
45 long eyelashes 58 31 very rare (1%) Very rare (<4-1%) HP:0000527
46 2-3 toe syndactyly 58 31 very rare (1%) Very rare (<4-1%) HP:0004691
47 eclabion 58 31 very rare (1%) Very rare (<4-1%) HP:0012472
48 periventricular heterotopia 58 31 very rare (1%) Very rare (<4-1%) HP:0007165
49 resting tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0002322
50 intellectual disability 58 Very frequent (99-80%)

Drugs & Therapeutics for Man1b1-Cdg

Search Clinical Trials , NIH Clinical Center for Man1b1-Cdg

Genetic Tests for Man1b1-Cdg

Anatomical Context for Man1b1-Cdg

MalaCards organs/tissues related to Man1b1-Cdg:

40
Skin, Brain

Publications for Man1b1-Cdg

Articles related to Man1b1-Cdg:

# Title Authors PMID Year
1
Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation. 61
32547898 2020
2
Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry. 61
30776362 2019
3
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. 61
29908352 2019
4
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. 61
29947113 2018
5
Clinical glycomics for the diagnosis of congenital disorders of glycosylation. 61
29497882 2018
6
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. 61
26307094 2015
7
N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency. 61
26401844 2015
8
MAN1B1 deficiency: an unexpected CDG-II. 61
24348268 2013

Variations for Man1b1-Cdg

Expression for Man1b1-Cdg

Search GEO for disease gene expression data for Man1b1-Cdg.

Pathways for Man1b1-Cdg

GO Terms for Man1b1-Cdg

Sources for Man1b1-Cdg

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
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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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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