ORPHA:280633
Multiple congenital anomalies-hypotonia-seizures syndrome
Synonyms: Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple congenital anomalies-hypotonia-seizures syndrome | Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG |
| fr | Syndrome d'anomalies congénitales multiples-hypotonie-épilepsie | Anomalie congénitale de la glycosylation par déficit en PIGN · PIGN-CDG |
| de | Multiple kongenitale Anomalien-Hypotonie-Krampfanfälle-Syndrom | Glykosylierungs-Krankheit, kongenitale, durch PIGN-Mangel · Kohlenhydrat-defizientes Glykoprotein-Syndrom durch PIGN-Mangel · Kongenitaler Defekt der Glycoproteinbiosynthese durch PIGN-Mangel · MCAHS1 · PIGN-CDG |
| es | Síndrome de anomalías congénitas múltiples-hipotonía-epilepsia | PIGN-CDG · Trastorno congénito de la glicosilación por deficiencia de PIGN |
| it | Sindrome anomalie congenite multiple-ipotonia-crisi epilettiche | |
| nl | Multipele congenitale anomalieën - hypotonie - insulten-syndroom | Congenitale defecten van de glycosylering door PIGN-deficiëntie · Congenitale glycosylatiestoornis door PIGN-deficiëntie · Meervoudige aangeboren afwijkingen - hypotonie - insulten-syndroom · PIGN-CDG |
| pt | Síndrome de anomalias congénitas múltiplas-hipotonia-convulsões | |
| pl | Zespół mnogie wady wrodzone - hipotonia - drgawki | = en |
| cs | Syndrom zahrnující mnohočetné vrozené vývojové vady, hypotonii a záchvaty | = en |
| uk | Синдром множинних вроджених аномалій-гіпотонії-судом | Вроджене порушення глікозилювання внаслідок дефіциту PIGN · PIGN-CDG |
| zh | 多重先天性异常-肌张力低下-癫痫综合征 | PIGN缺陷所致先天性糖基化障碍 |
| tr | Çoklu doğumsal anomaliler-hipotoni-nöbet sendromu | PIGN-CDG · PIGN eksikliğine bağlı doğumsal glikozilasyon bozukluğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614080 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0013563 | E | validated | |
| UMLS | C5191419 | E | validated | |
| GARD | 12781 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:371235Congenital disorder of glycosylation with developmental anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases - 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIGN | Disease-causing germline mutation(s) in | Assessed | HGNC:8967 | ENSG00000197563 | 606097 | 18q21.33 | phosphatidylinositol glycan anchor biosynthesis class N | 21493957[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 26394714[PMID]_26364997[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26394714[PMID]_26364997[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 2019-02-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0000639 | Nystagmus | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0006829 | Severe muscular hypotonia | |
| Frequent (79-30%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0000280 | Coarse facial features | |
| HP:0012448 | Delayed myelination | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000218 | High palate | |
| HP:0001615 | Hoarse cry | |
| HP:0001265 | Hyporeflexia | |
| HP:0004488 | Macrocephaly at birth | |
| HP:0001655 | Patent foramen ovale | |
| HP:0010291 | Prominent palatine ridges | |
| HP:0011247 | Prominent superior crus of antihelix | |
| HP:0001773 | Short foot | |
| HP:0200055 | Small hand | |
| HP:0000486 | Strabismus | |
| HP:0001182 | Tapered finger | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0004742 | Abnormal renal collecting system morphology | |
| HP:0000932 | Abnormality of the posterior cranial fossa | |
| HP:0000646 | Amblyopia | |
| HP:0002023 | Anal atresia | |
| HP:0002025 | Anal stenosis | |
| HP:0000463 | Anteverted nares | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0011333 | Asymmetric crying face | |
| HP:0002305 | Athetosis | |
| HP:0001631 | Atrial septal defect | |
| HP:0000498 | Blepharitis | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0008676 | Congenital megaureter | |
| HP:0004681 | Deep longitudinal plantar crease | |
| HP:0002015 | Dysphagia | |
| HP:0006254 | Elevated alpha-fetoprotein | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0002286 | Fair hair | |
| HP:0005830 | Flexion contracture of toe | |
| HP:0000293 | Full cheeks | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000034 | Hydrocele testis | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0007441 | Hyperpigmented/hypopigmented macules | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0002265 | Large fleshy ears | |
| HP:0000308 | Microretrognathia | |
| HP:0008551 | Microtia | |
| HP:0000774 | Narrow chest | |
| HP:0000160 | Narrow mouth | |
| HP:0000396 | Overfolded helix | |
| HP:0002951 | Partial absence of cerebellar vermis | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0004969 | Peripheral pulmonary artery stenosis | |
| HP:0001761 | Pes cavus | |
| HP:0000269 | Prominent occiput | |
| HP:0011271 | Prominent tragus | |
| HP:0006165 | Proportionate shortening of all digits | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0025025 | Rectovestibular fistula | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0000350 | Small forehead | |
| HP:0000319 | Smooth philtrum | |
| HP:0000664 | Synophrys | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0010282 | Thin lower lip vermilion | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0008718 | Unilateral renal dysplasia | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0008635 | Urinary bladder wall hypertrophy | |
| HP:0002119 | Ventriculomegaly | |
| HP:0010544 | Vertical nystagmus | |
| HP:0000154 | Wide mouth | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 21493957[PMID]_26364997[PMID]_26394714[PMID]_26419326[PMID]_24253414[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280633
- This record as JSON: /data/d/280633.json