Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Synonyms: MCAHS type 2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | MCAHS type 2 |
| fr | Syndrome d'anomalies congénitales multiples-hypotonie-épilepsie type 2 | = en |
| de | Multiple kongenitale Anomalien-Hypotonie-Krampfanfälle-Syndrom Typ 2 | MCAHS Typ 2 |
| es | Síndrome de anomalías congénitas múltiples-hipotonía-crisis tipo 2 | MCAHS tipo 2 |
| it | Sindrome da anomalie congenite multiple, ipotonia e crisi epilettiche tipo 2 | MCAHS, tipo 2 |
| nl | Multipele congenitale anomalieën - hypotonie - insulten-syndroom type 2 | MCAHS type 2 · Meervoudige aangeboren afwijkingen - hypotonie - epileptische aanvallen-syndroom type 2 |
| pt | Síndrome de anomalias congénitas múltiplas-hipotonia-convulsões tipo 2 | |
| pl | Zespół mnogie wady wrodzone-hipotonia-drgawki typu 2 | MCAHS typu 2 |
| cs | Syndrom zahrnující mnohočetné vrozené anomálie, hypotonii a záchvaty, typ 2 | MCAHS typ 2 |
| uk | Синдром множинних вроджених аномалій-гіпотонії-судом, тип 2 | MCAHS тип 2 |
| zh | 多发性先天性畸形-肌张力低下-癫痫综合征2型 | 多发先天性畸形-肌张力低下-惊厥综合征2型 |
| tr | Çoklu doğumsal anomaliler-hipotoni-nöbet sendromu tip 2 | MCAHS tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300868 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0010466 | E | validated | |
| UMLS | C4751110 | E | validated | |
| GARD | 12777 | 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 (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.
Codes that Orphanet moved or referred to this one:
- ORPHA:79022Simpson-Golabi-Behmel syndrome type 2 moved to · inactive
- ORPHA:83648OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIGA | Disease-causing germline mutation(s) in | Assessed | HGNC:8957 | ENSG00000165195 | 311770 | Xp22.2 | phosphatidylinositol glycan anchor biosynthesis class A |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 16783569[PMID]_22305531[PMID]_24357517[PMID]_24259288[PMID]_24259184[PMID]_24706016[PMID]_26545172[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26545172[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/300496
- This record as JSON: /data/d/300496.json