MCID: PGM031
MIFTS: 14

Pgm3-Congenital Disorder of Glycosylation

Categories: Bone diseases, Cardiovascular diseases, Immune diseases

Aliases & Classifications for Pgm3-Congenital Disorder of Glycosylation

MalaCards integrated aliases for Pgm3-Congenital Disorder of Glycosylation:

Name: Pgm3-Congenital Disorder of Glycosylation 25
Immunodeficiency with Hyper Ige and Cognitive Impairment 25
Deficiency of N-Acetylglucosamine-Phosphate Mutase 1 25
Pgm3-Related Congenital Disorder of Glycosylation 25
Combined Immunodeficiency Due to Pgm3 Deficiency 25
Immunodeficiency-Vasculitis-Myoclonus Syndrome 25
Phosphoglucomutase Deficiency Type 3 25
Deficiency of Phosphoglucomutase 3 25
Phosphoglucomutase 3 Deficiency 25
Cid Due to Pgm3 Deficiency 25
Immunodeficiency 23 25
Agm1 Deficiency 25
Pgm3 Deficiency 25
Pgm3-Cdg 25

Classifications:



Summaries for Pgm3-Congenital Disorder of Glycosylation

Genetics Home Reference : 25 PGM3-congenital disorder of glycosylation (PGM3-CDG) is an inherited condition that primarily affects the immune system but can also involve other areas of the body. The pattern and severity of this disorder's signs and symptoms typically vary. PGM3 PGM3 Most people with PGM3-CDG have impaired immune function (immune deficiency). Many have a shortage of white blood cells (leukopenia), which normally protect the body from infection. Because affected individuals lack the necessary immune cells to fight off certain bacteria, viruses, and fungi, they are prone to repeated and persistent infections that often occur in the lungs, ears, skin, or gastrointestinal tract. In severe cases of PGM3-CDG, impaired bone marrow function may lead to a decrease in the production of all blood cells, resulting in a condition called bone marrow failure. Affected individuals usually also have allergies, asthma, or an inflammatory skin condition called eczema. People with PGM3-CDG may develop autoimmunity, which occurs when the body attacks its own tissues and organs by mistake. Persistent illness may cause affected children to grow more slowly than other individuals. PGM3 PGM3 PGM3 Additionally, people with PGM3-CDG often have abnormally high levels of immune system proteins called antibodies (also known as immunoglobulins), particularly immunoglobulin E (IgE). Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. The effect of abnormal levels of antibodies in PGM3-CDG is unclear. PGM3 PGM3 People with PGM3-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many affected individuals have skeletal abnormalities involving the ribs or bones in the hands, feet, or spine. Some people with this condition have distinct facial features, such as a flat or sunken appearance of the middle of the face (midface hypoplasia), small chin (micrognathia), full lips, downturned corners of the mouth, and wide nostrils that open to the front rather than downward. PGM3-CDG can also cause problems in the lungs, gastrointestinal tract, and kidneys. PGM3 PGM3 Lifespan varies widely in people with PGM3-CDG; some do not survive past infancy while others live into late adulthood. PGM3

MalaCards based summary : Pgm3-Congenital Disorder of Glycosylation, also known as immunodeficiency with hyper ige and cognitive impairment, is related to immunodeficiency 23 and congenital disorder of glycosylation, type in. The drugs Warfarin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and kidney.

Wikipedia : 74 PGM3 deficiency is a rare genetic disorder of the immune system associated with diminished... more...

Related Diseases for Pgm3-Congenital Disorder of Glycosylation

Diseases related to Pgm3-Congenital Disorder of Glycosylation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 23 12.7
2 congenital disorder of glycosylation, type in 10.1
3 hyper ige syndrome 10.1
4 dermatitis 10.1
5 lymphopenia 10.1
6 hypereosinophilic syndrome 10.1

Graphical network of the top 20 diseases related to Pgm3-Congenital Disorder of Glycosylation:



Diseases related to Pgm3-Congenital Disorder of Glycosylation

Symptoms & Phenotypes for Pgm3-Congenital Disorder of Glycosylation

Drugs & Therapeutics for Pgm3-Congenital Disorder of Glycosylation

Drugs for Pgm3-Congenital Disorder of Glycosylation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Warfarin Approved Phase 1 81-81-2 6691 54678486
2 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation Terminated NCT02511041 Phase 1 N-Acetylglucosamine (GlcNAc);Uridine
2 Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES) Recruiting NCT00006150

Search NIH Clinical Center for Pgm3-Congenital Disorder of Glycosylation

Genetic Tests for Pgm3-Congenital Disorder of Glycosylation

Anatomical Context for Pgm3-Congenital Disorder of Glycosylation

MalaCards organs/tissues related to Pgm3-Congenital Disorder of Glycosylation:

40
Bone Marrow, Bone, Kidney, Lung, Skin

Publications for Pgm3-Congenital Disorder of Glycosylation

Articles related to Pgm3-Congenital Disorder of Glycosylation:

# Title Authors PMID Year
1
Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry. 61
28063873 2017
2
Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation. 61
26209898 2015

Variations for Pgm3-Congenital Disorder of Glycosylation

Expression for Pgm3-Congenital Disorder of Glycosylation

Search GEO for disease gene expression data for Pgm3-Congenital Disorder of Glycosylation.

Pathways for Pgm3-Congenital Disorder of Glycosylation

GO Terms for Pgm3-Congenital Disorder of Glycosylation

Sources for Pgm3-Congenital Disorder of Glycosylation

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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