MPI-CDG
Synonyms: CDG syndrome type Ib · CDG-Ib · CDG1B · Carbohydrate deficient glycoprotein syndrome type Ib · Congenital disorder of glycosylation type 1b · Congenital disorder of glycosylation type Ib · Phosphomannose isomerase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombin III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene <i>MPI</i> (15q24.1).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MPI-CDG | CDG syndrome type Ib · CDG-Ib · CDG1B · Carbohydrate deficient glycoprotein syndrome type Ib · Congenital disorder of glycosylation type 1b · Congenital disorder of glycosylation type Ib · Phosphomannose isomerase deficiency |
| fr | MPI-CDG | Déficit en phosphomannose isomerase · Syndrome CDG type Ib · Syndrome des glycoprotéines déficientes en hydrates de carbone type Ib · Anomalie congénitale de la glycosylation type 1b · Anomalie congénitale de la glycosylation type Ib · CDG-Ib · CDG1B |
| de | MPI-CDG | CDG-Ib · CDG-Syndrom Typ Ib · CDG1B · Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Ib · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ib · Phosphomannose-Isomerase-Mangel |
| es | MPI-CDG | CDG-Ib · CDG1B · Deficiencia de fosfomanosa isomerasa · Síndrome CDG tipo Ib · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ib · Trastorno congénito de la glicosilación tipo 1b · Trastorno congénito de la glicosilación tipo Ib |
| it | MPI-CDG | CDG-Ib · CDG1B · Deficit di fosfomannosio isomerasi · Disturbo congenito della glicosilazione, tipo 1b · Disturbo congenito della glicosilazione, tipo Ib · Sindrome CDG, tipo Ib · Sindrome delle glicoproteine carenti in carboidrati, tipo Ib |
| nl | MPI-CDG | CDG-Ib · CDG-syndroom type Ib · CDG1B · Congenitale defecten van de glycosylering type 1b · Congenitale defecten van de glycosylering type Ib · Congenitale glycosylatiestoornis type 1b · Congenitale glycosylatiestoornis type Ib · Fosfomannose-isomerasedeficiëntie · Koolhydraatdeficiënt glycoproteïne-syndroom type Ib |
| pt | MPI-CDG | CDG-Ib · CDG1B · Deficiência de fosfomanose isomerase · Doença congénita da glicosilação tipo 1b · Doença congénita da glicosilação tipo Ib · Síndrome CDG tipo Ib · Síndrome de glicoproteína deficiente em carbohidratos tipo Ib |
| pl | MPI-CDG | CDG1B · CDG-Ib · Niedobór izomerazy fosfomannozy · Wrodzone zaburzenie glikozylacji typu 1b · Wrodzone zaburzenie glikozylacji typu Ib · Zespół CDG typu Ib · Zespół obniżonej glikozylacji glikoprotein typu Ib |
| cs | MPI-CDG | CDG syndrom, typ Ib · CDG-Ib · CDG1B · Carbohydrate deficient glycoprotein syndrom type Ib · Vrozená porucha glykosylace, typ 1b · Vrozená porucha glykosylace, typ Ib · Deficit fosfomannózaizomerázy · Syndrom s deficitem karbohydrátového glykoproteinu typ Ib |
| uk | MPI-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Ib · Синдром CDG, тип Ib · CDG1B · CDG-Ib · Вроджене порушення глікозилювання типу 1b · Вроджене порушення глікозилювання типу Ib · Дефіцит фосфоманнозо-ізомерази |
| zh | 先天性糖基化障碍1b型 | 碳水化合物缺乏糖蛋白综合征Ib型 |
| tr | MPI-CDG | CDG1B · CDG-Ib · CDG sendromu tip Ib · Fosfomannoz izomeraz eksikliği · Tip 1b'nin doğumsal bozukluğu · Tip Ib'nin doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ib |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602579 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0011257 | E | validated | |
| MeSH | C535740 | E | validated | |
| UMLS | C1865145 | E | validated | |
| GARD | 9830 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:371157Congenital disorder of glycosylation with hepatic involvement
rare genetic diseases; rare hepatic diseases - ORPHA:371188Congenital disorder of glycosylation with intestinal involvement
rare gastroenterological diseases; rare genetic diseases - ORPHA:309347Disorder of protein N-glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MPI | Disease-causing germline mutation(s) in | Assessed | HGNC:7216 | ENSG00000178802 | 154550 | 15q24.1 | mannose phosphate isomerase | 20301507[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 19862844[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19862844[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2021-09-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Very frequent (99-80%) | ||
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0002014 | Diarrhea | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0040246 | Reduced antithrombin antigen | |
| Frequent (79-30%) | ||
| HP:0001977 | Abnormal thrombosis | |
| HP:0001410 | Decreased liver function | |
| HP:0000969 | Edema | |
| HP:0001508 | Failure to thrive | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| HP:0001409 | Portal hypertension | |
| HP:0002243 | Protein-losing enteropathy | |
| HP:0001929 | Reduced factor XI activity | |
| HP:0005543 | Reduced protein C activity | |
| HP:0004855 | Reduced protein S activity | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0000821 | Hypothyroidism | |
| Excluded (0%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301507[PMID]_32266963[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79319
- This record as JSON: /data/d/79319.json