Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Synonyms: Congenital disorder of glycosylation due to PIGM deficiency · PIGM-CDG
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | Congenital disorder of glycosylation due to PIGM deficiency · PIGM-CDG |
| fr | Syndrome d'hypercoagulabilité par déficit héréditaire en glycosyl phosphatidyl inositol | Anomalie congénitale de la glycosylation par déficit en PIGM · PIGM-CDG |
| de | Hyperkoagulabilitätssyndrom durch Glykosylphosphatidyl-Inositol-Mangel | Glykosylierungs-Krankheit, kongenitale, durch PIGM-Mangel · Kohlenhydrat-defizientes Glykoprotein-Syndrom durch PIGM-Mangel · Kongenitaler Defekt der Glycoproteinbiosynthese durch PIGM-Mangel · PIGM-CDG |
| es | Síndrome de hipercoagulabilidad por deficiencia de glicosilfosfatidilinositol | PIGM-CDG · Trastorno congénito de la glicosilación por deficiencia de PIGM |
| it | Sindrome da ipercoagulabilità da deficit glicosilfosfatidilinositolo | PIGM-CDG |
| nl | Hypercoagulabiliteit-syndroom door deficiëntie van glycosylfosfatidylinositol | Congenitale glycosylatiestoornis door PIGM-deficiëntie · PIGM-CDG |
| pt | Síndrome hipercoagulabilidade por deficiência de glicosilfosfatidilinositol | |
| pl | Zespół nadkrzepliwości spowodowany niedoborem glikozylofosfatydyloinozytolu | PIGM-CDG |
| cs | Hyperkoagulační syndrom způsobený deficitem glykosylfosfatidylinositolu | PIGM-CDG |
| uk | Синдром гіперкоагуляції внаслідок дефіциту глікозилфосфатидилінозитолу | Вроджене порушення глікозилювання внаслідок дефіциту PIGM · PIGM-CDG |
| zh | 糖基磷脂酰肌醇缺乏所致高凝综合征 | PIGM缺乏所致先天性糖基化障碍 |
| tr | Glikozilfosfatidilinositol eksikliğine bağlı hiper pıhtılaşma sendromu | PİGM-CDG · PİGM eksikliğine bağlı Doğumsal glikozilasyon bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610293 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 3B61.0Y | NTBT | index | validated |
| MONDO | 0012465 | E | validated | |
| UMLS | C4510605 | E | validated | |
| GARD | 9965 | 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 (3):
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:309515Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:248361Rare thrombotic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIGM | Disease-causing germline mutation(s) in | Assessed | HGNC:18858 | ENSG00000143315 | 610273 | 1q23.2 | phosphatidylinositol glycan anchor biosynthesis class M | 16767100[PMID] |
| PIGW | Disease-causing germline mutation(s) in | Assessed | HGNC:23213 | ENSG00000277161 | 610275 | 17q12 | phosphatidylinositol glycan anchor biosynthesis class W | 27626616[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 16767100[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16767100[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83639
- This record as JSON: /data/d/83639.json