ORPHA:443811
PGM3-CDG
Synonyms: CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency · PGM3-related congenital disorder of glycosylation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare congenital disorder of glycosylation caused by mutations in the <i>PGM3</i> gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PGM3-CDG | CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency · PGM3-related congenital disorder of glycosylation |
| fr | PGM3-CDG | Anomalie congénitale de la glycosylation associée à PGM3 · CID par déficit en PGM3 · Déficit immunitaire combiné par déficit en PGM3 |
| de | PGM3-CDG | CID durch PGM3-Mangel · Immundefekt, kombinierter, durch PGM3-Mangel · PGM3-abhängige kongenitale Glykosylierungs-Krankheit |
| es | PGM3-CDG | IDC por deficiencia de PGM3 · Inmunodeficiencia combinada por deficiencia de PGM3 · Trastorno congénito de la glicosilación asociado a PGM3 · Trastorno congénito de la glicosilación asociado al gen PGM3 |
| it | PGM3-CDG | CID da deficit di PGM3 · Disturbo congenito della glicosilazione PGM3-correlato · Immunodeficienza combinata da deficit di PGM3 |
| nl | PGM3-CDG | CID als gevolg van PGM3-deficiëntie · Gecombineerde immuundeficiëntie als gevolg van PGM3-deficiëntie · PGM3-gerelateerde congenitale glycosylatiestoornis |
| pt | PGM3-CDG | CID devido a deficiência PGM3 · Glicogenose PGM3-relacionada · Imunodeficiência combinada devido a deficiência PGM3 |
| pl | PGM3-CDG | CID spowodowany niedoborem PGM3 · Wrodzone zaburzenie glikozylazji zależne od PGM3 · Złożony zespół niedoboru odporności spowodowany deficytem PGM3 |
| cs | PGM3-CDG | CID zpusobená deficitem PGM3 · PGM3-vázaná vrozená porucha glykosylace · CID způsobená deficitem PGM3 · Kombinovaná imunodeficience způsobená deficitem PGM3 |
| uk | PGM3-CDG | КІД через дефіцит PGM3 · Комбінований імунодефіцит внаслідок дефіциту PGM3 · Вроджене порушення глікозилювання, повязане з PGM3 |
| zh | PGM3突变所致先天性糖基化障碍 | PGM3相关先天性糖基化异常 |
| tr | PGM3-CDG | PGM3 eksikliği nedeniyle CID · PGM3 eksikliğine bağlı kombine immün yetmezlik · PGM3-ilişkili doğumsal glikozilasyon bozukluğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615816 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | attributed | validated |
| MONDO | 0014353 | E | validated | |
| UMLS | C4014371 | E | validated | |
| GARD | 4331 | 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 (3):
- ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:331223Hyper-IgE syndrome
rare genetic diseases; rare immunological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PGM3 | Disease-causing germline mutation(s) in | Assessed | HGNC:8907 | ENSG00000013375 | 172100 | 6q14.1 | phosphoglucomutase 3 | 24589341[PMID]_24931394[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 24698316[PMID]_24589341[PMID]_24931394[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24698316[PMID]_24589341[PMID]_24931394[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
63 annotations · validated 2019-09-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0031292 | Cutaneous abscess | |
| HP:0032218 | Decreased proportion of CD4-positive T cells | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0002719 | Recurrent infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001581 | Recurrent skin infections | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0001047 | Atopic dermatitis | |
| HP:0000389 | Chronic otitis media | |
| HP:0045080 | Decreased proportion of CD3-positive T cells | |
| HP:0005403 | Decreased total T cell count | |
| HP:0001508 | Failure to thrive | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0003237 | Increased circulating IgG level | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001888 | Lymphopenia | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0004429 | Recurrent viral infections | |
| HP:0031402 | Reduced antigen-specific T cell proliferation | |
| HP:0002923 | Rheumatoid factor positive | |
| HP:0100806 | Sepsis | |
| HP:0200029 | Vasculitis in the skin | |
| Occasional (29-5%) | ||
| HP:0031394 | Abnormal CD4:CD8 ratio | |
| HP:0001999 | Abnormal facial shape | |
| HP:0031393 | Abnormal proportion of CD8 T cells | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0003193 | Allergic rhinitis | |
| HP:0002099 | Asthma | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0002110 | Bronchiectasis | |
| HP:0011109 | Chronic sinusitis | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0040148 | Cortical myoclonus | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0200101 | Decreased/absent ankle reflexes | |
| HP:0001260 | Dysarthria | |
| HP:0001878 | Hemolytic anemia | |
| HP:0000218 | High palate | |
| HP:0007083 | Hyperactive patellar reflex | |
| HP:0003261 | Increased circulating IgA level | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0004789 | Lactose intolerance | |
| HP:0001882 | Leukopenia | |
| HP:0002665 | Lymphoma | |
| HP:0000793 | Membranoproliferative glomerulonephritis | |
| HP:0008587 | Mild neurosensory hearing impairment | |
| HP:0001336 | Myoclonus | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | |
| HP:0002841 | Recurrent fungal infections | |
| HP:0040218 | Reduced natural killer cell count | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004430 | Severe combined immunodeficiency | |
| HP:0200042 | Skin ulcer | |
| Very rare (<4-1%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0100633 | Esophagitis | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002754 | Osteomyelitis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 24931394[PMID]_31095764[PMID]_24698316[PMID]_24589341[PMID]_14981714[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/443811
- This record as JSON: /data/d/443811.json