MCID: MN1002
MIFTS: 10

Man1b1-Cdg

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Man1b1-Cdg

MalaCards integrated aliases for Man1b1-Cdg:

Name: Man1b1-Cdg 54 60
Carbohydrate Deficient Glycoprotein Syndrome Type Ii Due to Man1b1 Deficiency 54 60
Congenital Disorder of Glycosylation Type Ii Due to Man1b1 Deficiency 54 60
Congenital Disorder of Glycosylation Type 2 Due to Man1b1 Deficiency 54 60
Intellectual Disability-Truncal Obesity Syndrome 54 60

Characteristics:

Orphanet epidemiological data:

60
man1b1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

Classifications:



External Ids:

ICD10 via Orphanet 35 E77.8
Orphanet 60 ORPHA397941

Summaries for Man1b1-Cdg

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 397941Disease definitionMAN1B1-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 geneMAN1B1 (9q34.3).Visit the Orphanet disease page for more resources.

MalaCards based summary : Man1b1-Cdg, is also known as carbohydrate deficient glycoprotein syndrome type ii due to man1b1 deficiency. An important gene associated with Man1b1-Cdg is MAN1B1 (Mannosidase Alpha Class 1B Member 1). Affiliated tissues include skin.

Related Diseases for Man1b1-Cdg

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:

42
Skin

Publications for Man1b1-Cdg

Articles related to Man1b1-Cdg:

# Title Authors Year
1
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. ( 29947113 )
2018

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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