MCID: MN1002
MIFTS: 13

Man1b1-Cdg

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Man1b1-Cdg

MalaCards integrated aliases for Man1b1-Cdg:

Name: Man1b1-Cdg 53 59
Carbohydrate Deficient Glycoprotein Syndrome Type Ii Due to Man1b1 Deficiency 53 59
Congenital Disorder of Glycosylation Type Ii Due to Man1b1 Deficiency 53 59
Congenital Disorder of Glycosylation Type 2 Due to Man1b1 Deficiency 53 59
Intellectual Disability-Truncal Obesity Syndrome 53 59

Characteristics:

Orphanet epidemiological data:

59
man1b1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

Classifications:



External Ids:

ICD10 via Orphanet 34 E77.8
Orphanet 59 ORPHA397941

Summaries for Man1b1-Cdg

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 397941DefinitionMAN1B1-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.

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

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:

41
Skin

Publications for Man1b1-Cdg

Articles related to Man1b1-Cdg:

# Title Authors PMID Year
1
Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry. 38
30776362 2019
2
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. 38
29908352 2019
3
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. 38
29947113 2018
4
Clinical glycomics for the diagnosis of congenital disorders of glycosylation. 38
29497882 2018
5
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. 38
26307094 2015
6
N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency. 38
26401844 2015
7
MAN1B1 deficiency: an unexpected CDG-II. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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