MCID: MN1002
MIFTS: 11

Man1b1-Cdg

Categories: Rare diseases, Neuronal diseases, Metabolic 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:

Orphanet 59 ORPHA397941
ICD10 via Orphanet 34 E77.8

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: 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:

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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