MPI-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: SLSJ SYNDROME
SAGUENAY-LAC SAINT-JEAN SYNDROME
PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME
MPI DEFICIENCY
CDG, GASTROINTESTINAL TYPE
MANNOSEPHOSPHATE ISOMERASE DEFICIENCY
CDG1B
CDG-Ib
Phosphomannose isomerase deficiency
CDG syndrome type Ib
CDG Ib
Congenital disorder of glycosylation type 1b
Congenital disorder of glycosylation type Ib
CDGIb
Carbohydrate deficient glycoprotein syndrome type Ib
Number of Symptoms 28
OrphanetNr: 79319
OMIM Id: 602579
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 20 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with hepatic involvement
 -Rare genetic disease
 -Rare hepatic disease
Congenital disorder of glycosylation with intestinal involvement
 -Rare gastroenterologic disease
 -Rare genetic disease
Disorder of protein N-glycosylation
 -Rare genetic disease
Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000825) Hyperinsulinemic hypoglycemia 18 / 7739
2
 (HPO:0002014) Diarrhea 225 / 7739
3
 (HPO:0011473) Villous atrophy 14 / 7739
4
 (HPO:0002243) Protein-losing enteropathy 8 / 7739
5
 (HPO:0001394) Cirrhosis 102 / 7739
6
 (HPO:0002240) Hepatomegaly 467 / 7739
7
 (HPO:0001399) Hepatic failure Very frequent [Orphanet] 80 / 7739
8
 (HPO:0001395) Hepatic fibrosis 67 / 7739
9
 (HPO:0002013) Vomiting 191 / 7739
10
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
11
 (HPO:0002612) Congenital hepatic fibrosis Very frequent [Orphanet] 16 / 7739
12
 (HPO:0001508) Failure to thrive 454 / 7739
13
 (HPO:0001977) Abnormal thrombosis 11 / 7739
14
 (HPO:0001892) Abnormal bleeding 85 / 7739
15
 (HPO:0001976) Reduced antithrombin III activity 10 / 7739
16
 (HPO:0001929) Reduced factor XI activity 7 / 7739
17
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
18
 (HPO:0001004) Lymphedema Frequent [Orphanet] 62 / 7739
19
 (HPO:0003073) Hypoalbuminemia 40 / 7739
20
 (HPO:0001943) Hypoglycemia Frequent [Orphanet] 131 / 7739
21
 (HPO:0001252) Muscular hypotonia 990 / 7739
22
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
23
 (HPO:0001324) Muscle weakness 859 / 7739
24
 (HPO:0010547) Muscle flaccidity 466 / 7739
25
 (MedDRA:10025210) Lymphangiectasia 2 / 7739
26
 (OMIM) Bleeding episodes 2 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (OMIM) Phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the ...
Clinical Description OMIM Pelletier et al. (1986) first described CDG Ib clinically. They observed secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis in 4 children whose parents originated from the same northeastern province of Quebec. ...
Molecular genetics OMIM Niehues et al. (1998) identified a heterozygous mutation in the MPI gene (154550.0001) in a patient with CDG Ib. Subsequently, Schollen et al. (2000) identified a second MPI mutation (154550.0004) in this patient, confirming compound heterozygosity and autosomal ...