ORPHA:261652
Kleefstra syndrome due to a point mutation
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
This disease is described under Kleefstra syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kleefstra syndrome due to a point mutation | |
| fr | Syndrome de Kleefstra dû à une mutation ponctuelle | |
| de | Kleefstra-Syndrom durch Punktmutationen | |
| es | Síndrome de Kleefstra por una mutación puntual | |
| it | Sindrome di Kleefstra da mutazione puntiforme | |
| nl | Syndroom van Kleefstra door puntmutatie | |
| pt | Síndrome Kleefstra por uma mutação pontual | |
| pl | Zespół Kleefstra z powodu mutacji punktowej | |
| cs | Kleefstrové syndrom způsobený bodovou mutací | |
| uk | Синдром Клефстри, зумовлений точковою мутацією | |
| zh | 点突变所致Kleefstra综合征 | |
| tr | Nokta mutasyonuna bağlı Kleefstra sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610253 | NTBT | validated | |
| OMIM | 617768 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0016865 | E | validated | |
| UMLS | C5680724 | 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:261494Kleefstra syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EHMT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24650 | ENSG00000181090 | 607001 | 9q34.3 | euchromatic histone lysine methyltransferase 1 | 20945554[PMID] |
| KMT2C | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13726 | ENSG00000055609 | 606833 | 7q36.1 | lysine methyltransferase 2C | 29069077[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 22670141[PMID]_[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.
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HPO phenotypes
50 annotations · validated 2020-11-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0000708 | Atypical behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0001548 | Overgrowth | |
| HP:0002719 | Recurrent infections | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0200005 | Abnormal shape of the palpebral fissure | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0033127 | Abnormality of the musculoskeletal system | |
| HP:0000729 | Autistic behavior | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001508 | Failure to thrive | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000365 | Hearing impairment | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000023 | Inguinal hernia | |
| HP:0002463 | Language impairment | |
| HP:0001520 | Large for gestational age | |
| HP:0000252 | Microcephaly | |
| HP:0011800 | Midface retrusion | |
| HP:0011351 | Moderate receptive language delay | |
| HP:0001270 | Motor delay | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0006863 | Severe expressive language delay | |
| HP:0004322 | Short stature | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0009909 | Uplifted earlobe | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000076 | Vesicoureteral reflux | |
| Very rare (<4-1%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0002023 | Anal atresia | |
| HP:0000248 | Brachycephaly | |
| HP:0000519 | Developmental cataract | |
| HP:0002171 | Gliosis | |
| HP:0000974 | Hyperextensible skin | |
| HP:0000540 | Hypermetropia | |
| HP:0001252 | Hypotonia | |
| HP:0000695 | Natal tooth | |
| HP:0001357 | Plagiocephaly | |
| HP:0000826 | Precocious puberty | |
| HP:0001182 | Tapered finger | |
| HP:0002779 | Tracheomalacia | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 22670141[PMID]_27123477[PMID]_23232695[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261652
- This record as JSON: /data/d/261652.json