ORPHA:658595
DNMT3A-related microcephalic dwarfism
Synonyms: HESJAS · Heyn-Sproul-Jackson syndrome · Microcephaly-short stature-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, 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 | DNMT3A-related microcephalic dwarfism | HESJAS · Heyn-Sproul-Jackson syndrome · Microcephaly-short stature-intellectual disability syndrome |
| fr | Nanisme microcéphalique associé à DNMT3A | HESJAS · Syndrome de Heyn-Sproul-Jackson · Syndrome de microcéphalie-petite taille-déficience intellectuelle |
| de | Kleinwuchs, mikrozephaler, DNMT3A-assoziierter | HESJAS · Heyn-Sproul-Jackson-Syndrom · Mikrozephalie-Kleinwuchs-Intelligenzminderung-Syndrom |
| es | Displasia microcefálica asociada a DNMT3A | Síndrome de Heyn-Sproul-Jackson · Síndrome de microcefalia-talla baja-discapacidad intelectual |
| it | Nanismo microcefalico correlato a DNMT3A | HESJAS · Sindrome di Heyn-Sproul-Jackson · Sindrome microcefalia-bassa statura-disabilità intellettiva |
| nl | DNMT3A-gerelateerde microcefale dwerggroei | HESJAS · Microcefalie - kleine gestalte - intellectuele achterstand-syndroom · Syndroom van Heyn-Sproul-Jackson |
| pt | Nanismo microcefálico DNMT3A-relacionado | HESJAS · Síndrome Heyn-Sproul-Jackson · Síndrome de microcefalia-baixa estatura-perturbação do desenvolvimento intelectual |
| pl | Karłowatość mikrocefaliczna związana z DNMT3A | = en |
| cs | Mikrocefalický dwarfismus asociovaný s DNMT3A | = en |
| uk | Мікроцефальна карликовість, повязана з DNMT3A | HESJAS · Синдром Хейна-Спроула-Джексона · Синдром мікроцефалії - низький зріст - розумова відсталість |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618724 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0032882 | E | validated | |
| MONDO | 32882 | E | validated | |
| UMLS | C5231475 | 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 (1):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNMT3A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:2978 | ENSG00000119772 | 602769 | 2p23.3 | DNA methyltransferase 3 alpha | 37517811[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 30478443[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30478443[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/658595
- This record as JSON: /data/d/658595.json