ORPHA:488635
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Synonyms: Congenital disorder of glycosylation due to PIGG deficiency · PIGG-CDG
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | Congenital disorder of glycosylation due to PIGG deficiency · PIGG-CDG |
| fr | Syndrome d'épilepsie à début précoce-déficience intellectuelle-anomalies cérébrales | Anomalie congénitale de la glycosylation par déficit en PIGG · PIGG-CDG |
| de | Epilepsie mit frühem Beginn-Intelligenzminderung-Gehirnanomalien-Syndrom | PIGG-CDG |
| es | Síndrome de epilepsia-discapacidad intelectual-anomalías cerebrales de inicio precoz | PIGG-CDG · Trastorno congénito de la glicosilación por deficiencia de PIGG |
| it | Sindrome epilessia ad esordio precoce-disabilità intellettiva-anomalie cerebrali | |
| nl | Epilepsie met vroege aanvang - intellectuele achterstand - hersenanomalieën-syndroom | Congenitale defecten van de glycosylering als gevolg van PIGG-deficiëntie · Congenitale glycosylatiestoornis als gevolg van PIGG-deficiëntie · PIGG-CDG |
| pt | Síndrome de epilepsia de início precoce-perturbação do desenvolvimento intelectual-anomalias cerebrais | |
| pl | Zespół epilepsji o wczesnym początku, niepełnosprawności intelektualnej i wad mózgu | Wrodzone zaburzenie glikolizacji z powodu niedoboru PIGG |
| cs | Syndrom zahrnující epilepsii s časným nástupem, mentální retardaci a anomálie mozku | PIGG-CDG · Vrozená porucha glykosylace způsobená deficitem PIGG |
| uk | Синдром ранньої епілепсії-інтелектуальної недостатності-аномалій розвитку головного мозку | Вроджене порушення глікозилювання внаслідок дефіциту PIGG · PIGG-CDG |
| zh | 早发性癫痫智力障碍大脑发育不良综合征 | PIGG缺乏导致的先天性糖基化紊乱 |
| tr | Erken başlangıçlı epilepsi-zihinsel yetersizlik-beyin anomalileri sendromu | PIGG-CDG · PIGG eksikliğine bağlı doğumsal glikozilasyon bozukluğu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616917 | BTNT | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.Y | NTBT | attributed | validated |
| MONDO | 0014832 | E | validated | |
| MONDO | 14832 | E | validated | |
| UMLS | C5567479 | 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: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: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 |
|---|---|---|---|---|---|---|---|---|
| PIGG | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25985 | ENSG00000174227 | 616918 | 4p16.3 | phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | 26996948[PMID]_28581210[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 26996948[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26996948[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
33 annotations · validated 2020-01-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001252 | Hypotonia | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0030047 | Abnormality of lateral ventricle | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002066 | Gait ataxia | |
| HP:0002141 | Gait imbalance | |
| HP:0001510 | Growth delay | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001265 | Hyporeflexia | |
| HP:0001382 | Joint hypermobility | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002329 | Drowsiness | |
| HP:0011193 | EEG with focal spikes | |
| HP:0011968 | Feeding difficulties | |
| HP:0001187 | Hyperextensibility of the finger joints | |
| HP:0000540 | Hypermetropia | |
| HP:0010510 | Hypermobility of toe joints | |
| HP:0000316 | Hypertelorism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0003394 | Muscle spasm | |
| HP:0001763 | Pes planus | |
| HP:0008081 | Pes valgus | |
| HP:0007258 | Severe demyelination of the white matter | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000445 | Wide nose | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31414351[PMID]_28581210[PMID]_26996948[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488635
- This record as JSON: /data/d/488635.json