Hao-Fountain syndrome
Synonyms: HAFOUS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of <i>USP7</i> gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, esotropia, strabismus, and nystagmus).
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hao-Fountain syndrome | HAFOUS |
| fr | Syndrome Hao-Fountain | = en |
| de | Hao-Fountain-Syndrom | = en |
| es | Síndrome de Hao-Fountain | = en |
| it | Sindrome di Hao-Fountain | = en |
| nl | Syndroom van Hao-Fountain | = en |
| pt | Síndrome Hao-Fountain | = en |
| pl | Zespół Hao-Fountaina | = en |
| cs | Haoův-Fountainův syndrom | Hao-Fountainův syndrom |
| uk | Синдром Хао-Фонтана | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616863 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0014805 | E | validated | |
| UMLS | C5393908 | 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 (1):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| USP7 | ORPHA:643538Hao-Fountain syndrome due to USP7 mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:12630 | ENSG00000187555 | 602519 | 16p13.2 | ubiquitin specific peptidase 7 | 30679821[PMID] |
| USP7 | ORPHA:500055Hao-Fountain syndrome due to 16p13.2 microdeletion | Role in the phenotype of | Assessed | HGNC:12630 | ENSG00000187555 | 602519 | 16p13.2 | ubiquitin specific peptidase 7 | 26365382[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 26365382[PMID]_30679821[PMID]_35627274[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 26365382[PMID]_30679821[PMID]_35627274[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/643549
- This record as JSON: /data/d/643549.json