ORPHA:96147
Kleefstra syndrome due to 9q34 microdeletion
Synonyms: 9q subtelomeric deletion syndrome · 9qSTDS · Kleefstra syndrome due to 9q subtelomeric deletion · Kleefstra syndrome due to del(9)(q34) · Kleefstra syndrome due to monosomy 9q34
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, 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 9q34 microdeletion | 9q subtelomeric deletion syndrome · 9qSTDS · Kleefstra syndrome due to 9q subtelomeric deletion · Kleefstra syndrome due to del(9)(q34) · Kleefstra syndrome due to monosomy 9q34 |
| fr | Syndrome de Kleefstra dû à une microdélétion 9q34 | 9qSTDS · Syndrome de Kleefstra dû à une del(9)(q34) · Syndrome de Kleefstra dû à une délétion subtélomérique 9q · Syndrome de Kleefstra dû à une monosomie 9q34 |
| de | Kleefstra-Syndrom durch Mikrodeletion 9q34 | 9qSTDS · Kleefstra-Syndrom durch del(9)(q34) · Kleefstra-Syndrom durch subtelomere Deletion 9q · Subtelomes Deletionssyndrom 9q |
| es | Síndrome de Kleefstra por microdeleción 9q34 | 9qSTDS · Síndrome de Kleefstra por del(9)(q34) · Síndrome de Kleefstra por deleción subtelomérica 9q · Síndrome de Kleefstra por monosomía 9q34 · Síndrome de deleción subtelomérica 9q |
| it | Sindrome di Kleefstra da microdelezione 9q34 | 9qSTDS · Sindrome da delezione 9q subtelomerica · Sindrome di Kleefstra da del(9)(q34) · Sindrome di Kleefstra da delezione 9q subtelomerica · Sindrome di Kleefstra da monosomia 9q34 |
| nl | Syndroom van Kleefstra door 9q34-microdeletie | 9p subtelomerische deletie-syndroom · 9qSTDS · Syndroom van Kleefstra door 9q subtelomerische deletie · Syndroom van Kleefstra door del(9)(q34) · Syndroom van Kleefstra door monosomie 9q34 |
| pt | Monossomia distal 9q34 | |
| pl | Zespół Kleefstra z powodu mikrodelecji 9q34 | 9qSTDS · Zespół delecji subtelomerowej 9q · Zespół Kleefstra z powodu del(9)(q34) · Zespół Kleefstra z powodu delecji subtelomerowej 9q · Zespół Kleefstra z powodu monosomii 9q34 |
| cs | Syndrom Kleefstrové způsobený mikrodelecí 9q34 | Syndrom 9q subtelomerické delece · 9qSTDS · Syndrom Kleefstrové způsobený 9q subtelomerickou delecí · Syndrom Kleefstrové způsobený del(9)(q34) · Syndrom Kleefstrové způsobený monozomií 9q34 |
| uk | Синдром Клефстри, зумовлений мікроделецією 9q34 | Синдром субтеломерної делеції 9q · 9qSTDS · Синдром Клефстри, зумовлений делецією субтеломеру 9q · Синдром Клефстри, зумовлений дефіцитом del(9)(q34) · Синдром Клефстри, зумовлений моносомією 9q34 |
| zh | 9q34微缺失所致Kleefstra综合征 | 9号染色体长臂亚端粒缺失所致Kleefstra综合征 |
| tr | 9q34 mikrodelesyonuna bağlı Kleefstra sendromu | 9qSTDS · 9q subtelomerik delesyon sendromu · Del (9) (q34)'e bağlı Kleefstra sendromu · Monozomi 9q34'e bağlı Kleefstra sendromu · 9q subtelomerik delesyona bağlı Kleefstra sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610253 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0019896 | E | validated | |
| UMLS | C0795833 | 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 (3):
- ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:261494Kleefstra syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:262074Partial deletion of the long arm of chromosome 9 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EHMT1 | Role in the phenotype of | Assessed | HGNC:24650 | ENSG00000181090 | 607001 | 9q34.3 | euchromatic histone lysine methyltransferase 1 | 20945554[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 86 cases | Worldwide | Case(s) | Validated | 22670141[PMID] | |
| 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
55 annotations · validated 2017-07-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0002381 | Aphasia | |
| HP:0000248 | Brachycephaly | |
| HP:0010529 | Echolalia | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0005469 | Flat occiput | |
| HP:0001263 | Global developmental delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002300 | Mutism | |
| HP:0003196 | Short nose | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000035 | Abnormal testis morphology | |
| HP:0000717 | Autism | |
| HP:0000028 | Cryptorchidism | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0011097 | Epileptic spasm | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0000158 | Macroglossia | |
| HP:0000252 | Microcephaly | |
| HP:0011800 | Midface retrusion | |
| HP:0001513 | Obesity | |
| HP:0010808 | Protruding tongue | |
| HP:0001250 | Seizure | |
| HP:0002133 | Status epilepticus | |
| HP:0000664 | Synophrys | |
| Occasional (29-5%) | ||
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000739 | Anxiety | |
| HP:0001659 | Aortic regurgitation | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0000741 | Apathy | |
| HP:0000708 | Atypical behavior | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100308 | Cerebral cortical hemiatrophy | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001710 | Conotruncal defect | |
| HP:0000716 | Depression | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0100541 | Femoral hernia | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000023 | Inguinal hernia | |
| HP:0000737 | Irritability | |
| HP:0000083 | Renal insufficiency | |
| HP:0002360 | Sleep abnormality | |
| HP:0012157 | Subcortical cerebral atrophy | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96147
- This record as JSON: /data/d/96147.json