ORPHA:662175
Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
Synonyms: Nabais Sa-de Vries type 2 syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome | Nabais Sa-de Vries type 2 syndrome |
| fr | Syndrome de macrocéphalie-cardiopathie congénitale-dysmorphie faciale-déficience intellectuelle | Syndrome de Nabais Sa-de Vries type 2 |
| de | Makrozephalie-kongenitale Herzerkrankung-Gesichtsdysmophie-Intelligenzminderung-Syndrom | Nabais-Sa-de-Vries-Syndrom Typ 2 |
| es | Síndrome de macrocefalia-cardiopatía congénita-dismofia facial-discapacidad intelectual | Síndrome de Nabais Sa-de Vries tipo 2 |
| it | Sindrome macrocefalia-cardiopatia congenita-dismorfismi facciali-disabilità intellettiva | Sindrome di Nabais Sa-de Vries tipo 2 |
| nl | Macrocefalie - congenitale hartziekte - faciale dysmorfie - intellectuele achterstand-syndroom | Syndroom van Nabais Sa-de Vries type 2 |
| pt | Síndrome de macrocefalia-doença cardíaca congénita-dismorfia facial-perturbação do desenvolvimento intelectual | Síndrome Nabais Sa-de Vries tipo 2 |
| pl | Zespół z wielkogłowiem, wrodzoną wadą serca, dysmorfią twarzy i niepełnosprawnością intelektualną | = en |
| cs | Syndrom zahrnující makrocefalii, vrozenou srdeční vadu, faciální dysmorfii a intelektovou nedostatečnost | = en |
| uk | Синдром макроцефалії-вроджених вад серця-дисморфізму обличчя-інтелектуальної недостатності | Синдром Набе-Са-де-Врі 2 типу |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618829 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0032943 | E | validated | |
| MONDO | 32943 | E | validated | |
| UMLS | C5394221 | 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 (2):
- 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 |
|---|---|---|---|---|---|---|---|---|
| SPOP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11254 | ENSG00000121067 | 602650 | 17q21.33 | speckle type BTB/POZ protein | 32109420[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 | 32109420[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32109420[PMID]_ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/662175
- This record as JSON: /data/d/662175.json