ORPHA:254528
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Synonyms: Maternal del(14)(q32.2) · Maternal monosomy 14q32.2
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Kagami-Ogata syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | Maternal del(14)(q32.2) · Maternal monosomy 14q32.2 |
| fr | Syndrome de Kagami-Ogata lié à une microdélétion maternelle 14q32.2 | Del(14)(q32.2) maternelle · Monosomie maternelle 14q32.2 |
| de | Kagami-Ogata-Syndrom durch maternale Mikrodeletion 14q32.2 | Del (14)(q32.2), maternal · Monosomie 14q32.2, maternal |
| es | Síndrome de Kagami-Ogata por microdeleción materna 14q32.2 | Monosomía materna 14q32.2 · Del(14)(q32.2) materna |
| it | Sindrome da microdelezione 14q32.2 materna | Del(14)(q32.2) materna · Monosomia 14q32.2 materna |
| nl | Syndroom van Kagami-Ogata door maternale 14q32.2-microdeletie | Maternale del(14)(q32.2) · Maternale monosomie 14q32.2 |
| pt | Síndrome de Kagami-Ogata por microdeleção 14q32.2 materna | |
| pl | Zespół mikrodelecji matczynej 14q32.2 | Matczyna del(14)(q32.2) · Monosomia matczyna 14q32.2 |
| cs | Syndrom maternální mikrodelece 14q32.2 | Maternální del(14)(q32.2) · Maternální monozomie 14q32.2 |
| uk | Синдром Кагамі-Огата, зумовлений материнською мікроделецією 14q32.2 | Материнська del(14)(q32.2) · Моносомія по материнській лінії 14q32.2 |
| zh | 母源染色体14q32.2微缺失所致加Kagami-Ogata综合征 | 母源14q32.2单体 |
| tr | Maternal 14q32.2 mikrodelesyonuna bağlı Kagami-Ogata sendromu | Maternal del (14) (q32.2) · Maternal monozomi 14q32.2 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608149 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.E | NTBT | index | validated |
| MONDO | 0016781 | E | validated | |
| UMLS | C5679640 | 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 (2):
- ORPHA:254519Kagami-Ogata syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:262110Partial deletion of the long arm of chromosome 14 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DLK1 | Role in the phenotype of | Assessed | HGNC:2907 | ENSG00000185559 | 176290 | 14q32.2 | delta like non-canonical Notch ligand 1 | 18176563[PMID] |
| MEG3 | Role in the phenotype of | Assessed | HGNC:14575 | ENSG00000214548 | 605636 | 14q32.2 | maternally expressed 3 | 18176563[PMID]_24801763[PMID] |
| RTL1 | Role in the phenotype of | Assessed | HGNC:14665 | ENSG00000254656 | 611896 | 14q32.2 | retrotransposon Gag like 1 | 18176563[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 28640239[PMID]_24891339[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28640239[PMID]_24891339[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.
6
HPO phenotypes
38 annotations · validated 2020-11-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006665 | Coat hanger sign of ribs | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0001561 | Polyhydramnios | |
| HP:0005257 | Thoracic hypoplasia | |
| Frequent (79-30%) | ||
| HP:0001540 | Diastasis recti | |
| HP:0001371 | Flexion contracture | |
| HP:0000023 | Inguinal hernia | |
| HP:0001382 | Joint hypermobility | |
| HP:0006267 | Large placenta | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002878 | Respiratory failure | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000337 | Broad forehead | |
| HP:0012385 | Camptodactyly | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0000126 | Hydronephrosis | |
| HP:0001252 | Hypotonia | |
| HP:0001601 | Laryngomalacia | |
| HP:0010511 | Long toe | |
| HP:0000158 | Macroglossia | |
| HP:0000341 | Narrow forehead | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0001539 | Omphalocele | |
| HP:0000194 | Open mouth | |
| HP:0001845 | Overlapping toe | |
| HP:0000767 | Pectus excavatum | |
| HP:0000884 | Prominent sternum | |
| HP:0005989 | Redundant neck skin | |
| HP:0000278 | Retrognathia | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001239 | Wrist flexion contracture | |
| Very rare (<4-1%) | ||
| HP:0001511 | Intrauterine growth retardation | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 26377239[PMID]_30232357[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254528
- This record as JSON: /data/d/254528.json