ORPHA:79318
PMM2-CDG
Synonyms: CDG syndrome type Ia · CDG-Ia · CDG1A · Carbohydrate deficient glycoprotein syndrome type Ia · Congenital disorder of glycosylation type 1a · Congenital disorder of glycosylation type Ia · Phosphomannomutase 2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PMM2-CDG | CDG syndrome type Ia · CDG-Ia · CDG1A · Carbohydrate deficient glycoprotein syndrome type Ia · Congenital disorder of glycosylation type 1a · Congenital disorder of glycosylation type Ia · Phosphomannomutase 2 deficiency |
| fr | PMM2-CDG | Anomalie congénitale de la glycosylation type 1a · Anomalie congénitale de la glycosylation type Ia · CDG1A · Déficit en phosphomannomutase 2 · Syndrome CDG type Ia · Syndrome des glycoprotéines déficientes en hydrates de carbone type Ia |
| de | PMM2-CDG | CDG1A · Kohlenhydrat-defizientes Glykoprotein-Syndrom Ia · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ia · Phosphomannomutase 2-Mangel · CDG-Ia · CDG-Syndrom Typ Ia |
| es | PMM2-CDG | CDG-Ia · CDG1A · Deficiencia de fosfomanomutasa 2 · Síndrome CDG tipo Ia · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ia · Trastorno congénito de la glicosilación tipo 1a · Trastorno congénito de la glicosilación tipo Ia |
| it | PMM2-CDG | CDG-Ia · CDG1A · Deficit di fosfomannomutasi 2 · Disturbo congenito della glicosilazione, tipo 1a · Disturbo congenito della glicosilazione, tipo Ia · Sindrome CDG, tipo Ia · Sindrome delle glicoproteine carenti in carboidrati, tipo Ia |
| nl | PMM2-CDG | Congenitale defecten van de glycosylering type Ia · Congenitale glycosylatiestoornis type Ia · Fosfomannomutase 2-deficiëntie · Koolhydraatdeficiënt glycoproteïne-syndroom type Ia · CDG-Ia · CDG-syndroom type Ia · CDG1A · Congenitale glycosylatiestoornis type 1a · Congenitale defecten van de glycosylering type 1a |
| pt | PMM2-CDG | CDG-Ia · CDG1A · Deficiência de fosfomanomutase 2 · Doença congénita da glicosilação tipo 1a · Doença congénita da glicosilação tipo Ia · Síndrome CDG tipo Ia · Síndrome de glicoproteína deficiente em carbohidratos tipo Ia |
| pl | PMM2-CDG | CDG1A · CDG-Ia · Niedobór fosfomannomutazy 2 · Wrodzone zaburzenie glikozylacji typu 1a · Wrodzone zaburzenie glikozylacji typu Ia · Zespół CDG typu Ia · Zespół obniżonej glikozylacji glikoprotein typu Ia |
| cs | PMM2-CDG | CDG syndrom, typ Ia · CDG-Ia · CDG1A · Carbohydrate deficient glycoprotein syndrom type Ia · Vrozená porucha glykosylace, typ 1a · Vrozená porucha glykosylace, typ Ia · Deficit fosfomannomutázy 2 · Syndrom s deficitem karbohydrátového glykoproteinu typ Ia |
| uk | PMM2-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Ia · Синдром CDG, тип Ia · CDG1A · CDG-Іа · Вроджене порушення глікозилювання типу 1а · Вроджене порушення глікозилювання типу Ia · Дефіцит фосфоманномутази 2 |
| zh | 先天性糖基化障碍1a型 | 碳水化合物缺乏糖蛋白综合征Ia型 |
| tr | PMM2-CDG | CDG1A · CDG-Ia · CDG sendromu tip Ia · Fosfomannomutaz 2 eksikliği · Tip 1a'nın doğumsal glikozilasyon bozukluğu · Tip Ia'nın Doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ia |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212065 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0008907 | E | validated | |
| MeSH | C535739 | E | validated | |
| UMLS | C0349653 | E | validated | |
| GARD | 9826 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:371157Congenital disorder of glycosylation with hepatic involvement
rare genetic diseases; rare hepatic diseases - ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PMM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9115 | ENSG00000140650 | 601785 | 16p13.2 | phosphomannomutase 2 | 20301289[PMID]_20301507[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.73 / 100 000 | Italy | Value and class | Validated | 11953730[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_19862844[PMID] |
| Prevalence at birth | 1-9 / 100 000 | — | Europe | Class only | Validated | 10854097[PMID]_11953730[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.
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HPO phenotypes
86 annotations · validated 2019-04-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000218 | High palate | |
| HP:0000486 | Strabismus | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | |
| HP:0000463 | Anteverted nares | |
| HP:0008936 | Axial hypotonia | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0012448 | Delayed myelination | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001265 | Hyporeflexia | |
| HP:0003186 | Inverted nipples | |
| HP:0001382 | Joint hypermobility | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0009125 | Lipodystrophy | |
| HP:0000276 | Long face | |
| HP:0100807 | Long fingers | |
| HP:0000343 | Long philtrum | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0001763 | Pes planus | |
| HP:0011220 | Prominent forehead | |
| HP:0000448 | Prominent nose | |
| HP:0000278 | Retrognathia | |
| HP:0001250 | Seizure | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002013 | Vomiting | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0030146 | Abnormal liver parenchyma morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0011443 | Abnormality of coordination | |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0010463 | Aplasia of the ovary | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0008734 | Decreased testicular size | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0001508 | Failure to thrive | |
| HP:0001945 | Fever | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0012882 | Hyperplastic labia majora | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0000855 | Insulin resistance | |
| HP:0001249 | Intellectual disability | |
| HP:0000400 | Macrotia | |
| HP:0002828 | Multiple joint contractures | |
| HP:0005562 | Multiple renal cysts | |
| HP:0000545 | Myopia | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0001698 | Pericardial effusion | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0030609 | Photoreceptor layer loss on macular OCT | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000093 | Proteinuria | |
| HP:0001976 | Reduced antithrombin III activity | |
| HP:0011858 | Reduced factor IX activity | |
| HP:0001929 | Reduced factor XI activity | |
| HP:0012509 | Reduced thyroxin-binding globulin | |
| HP:0002098 | Respiratory distress | |
| HP:0000510 | Rod-cone dystrophy | |
| Very rare (<4-1%) | ||
| HP:0012050 | Anasarca | |
| HP:0001681 | Angina pectoris | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002625 | Deep venous thrombosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0031404 | Impaired antigen-specific response | |
| HP:0040238 | Impaired neutrophil chemotaxis | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0001004 | Lymphedema | |
| HP:0001701 | Pericarditis | |
| HP:0000926 | Platyspondyly | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 29079546[PMID]_29229467[PMID]_28425223[PMID]_30464053[PMID]_20301289[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79318
- This record as JSON: /data/d/79318.json