ORPHA:93946
Hamel cerebro-palato-cardiac syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hamel cerebro-palato-cardiac syndrome | |
| fr | Syndrome cérébro-palato-cardiaque d'Hamel | |
| de | Zerebro-palato-kardiales Syndrom Hamel | |
| es | Síndrome cerebro-palato-cardíaco de Hamel | |
| it | Sindrome cerebro-palato-cardiaca di Hamel | |
| nl | Cerebro-palato-cardiaal syndroom van Hamel | |
| pt | Síndrome de Hamel cerebro-palato-cardíaco | |
| pl | Zespół mózgowo-podniebienno-sercowy Hamela | |
| cs | Hamelův cerebropalatokardiální syndrom | |
| uk | Церебропалатокардіальний синдром Гамеля | |
| zh | Hamel脑-腭-心综合征 | |
| tr | Hamel serebro-palato-kardiyak sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309500 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0019767 | E | validated | |
| UMLS | C5681615 | 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 (1):
- ORPHA:3242Renpenning syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PQBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9330 | ENSG00000102103 | 300463 | Xp11.23 | polyglutamine binding protein 1 |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
6
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0001631 | Atrial septal defect | |
| HP:0000414 | Bulbous nose | |
| HP:0000175 | Cleft palate | |
| HP:0000378 | Cupped ear | |
| HP:0001522 | Death in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000272 | Malar flattening | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0004322 | Short stature | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93946
- This record as JSON: /data/d/93946.json