Luscan-Lumish syndrome
Synonyms: SETD2-related overgrowth syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by a variable phenotype including macrocephaly, postnatal overgrowth, advanced carpal ossification, obesity, speech delay, intellectual disability, autism spectrum disorders, and behavioral difficulties with aggressive outbursts, and variable facial dysmorphism. Seizures, structural abnormalities of the brain, as well as a variety of other manifestations such as recurrent otitis media, joint hypermobility, hirsutism, or naevi have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Luscan-Lumish syndrome | SETD2-related overgrowth syndrome |
| fr | Syndrome de Luscan-Lumish | Syndrome de croissance excessive associé à SETD2 |
| de | Luscan-Lumish-Syndrom | LLS · SETD2-assoziiertes Großwuchs-Syndrom |
| es | Síndrome de Luscan-Lumish | Síndrome de sobrecrecimiento asociado a SETD2 |
| it | Sindrome di Luscan-Lumish | Sindrome da iperaccrescimento correlata a SETD2 |
| nl | Syndroom van Luscan-Lumish | SETD2-gerelateerd overgroeisyndroom |
| pt | Síndrome Luscan-Lumish | Síndrome de sobrecrescimento SETD2-relacionada |
| pl | Zespół Luscan i Lumish | Zespół nadmiernego wzrostu związany z SETD2 |
| cs | Luscan-Lumish syndrom | = en |
| uk | Синдром Лускана-Люміша | Синдром надмірного росту, повязаний з SETD2 |
| zh | Luscan-Lumish syndrome | = en |
| tr | Luscan-Lumish syndrome | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616831 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0014791 | E | validated | |
| UMLS | C4085873 | 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 (4):
- 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 - ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SETD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18420 | ENSG00000181555 | 612778 | 3p21.31 | SET domain containing 2, histone lysine methyltransferase | 22495309[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31643139[PMID]_33248444[PMID] |
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 31643139[PMID]_33248444[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/597738
- This record as JSON: /data/d/597738.json