raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:254534

Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation

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
LangNameSynonyms
enKagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
frSyndrome de Kagami-Ogata lié à une hyperméthylation maternelle 14q32.2
deKagami-Ogata-Syndrom durch maternale 14q32.2-Hypomethylierung
esSíndrome de Kagami-Ogata por hipermetilación en 14q32.2 del alelo materno
itSindrome da ipermetilazione materna 14q32.2
nlSyndroom van Kagami-Ogata door maternale 14q32.2-hypermethylatie
ptSíndrome da hipermetilação materna 14q32.2
plZespół hipometylacji matczynej 14q32.2
csMaternální 14q32.2 hypermethylační syndrom
ukСиндром Кагамі-Огата, зумовлений материнським гіперметилюванням 14q32.2
zh母源染色体14q32.2高甲基化所致Kagami-Ogata综合征
trMaternal 14q32.2 hipermetilasyona bağlı Kagami-Ogata sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM608149NTBTvalidated
ICD-10Q99.8NTBTattributedvalidated
ICD-11LD2YNTBTattributedvalidated
MONDO0016783Evalidated
UMLSC5680720Evalidated

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):

No children.

4

Genes

3 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
DLK1Role in the phenotype ofAssessedHGNC:2907ENSG0000018555917629014q32.2delta like non-canonical Notch ligand 118176563[PMID]
MEG3Role in the phenotype ofAssessedHGNC:14575ENSG0000021454860563614q32.2maternally expressed 318176563[PMID]_24801763[PMID]
RTL1Role in the phenotype ofAssessedHGNC:14665ENSG0000025465661189614q32.2retrotransposon Gag like 118176563[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families7 casesWorldwideCase(s)Validated26377239[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET_26377239[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

19 annotations · validated 2020-11-10
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0006665Coat hanger sign of ribs
HP:0008872Feeding difficulties in infancy
HP:0001263Global developmental delay
HP:0001256Intellectual disability, mild
HP:0006267Large placenta
HP:0001561Polyhydramnios
HP:0005257Thoracic hypoplasia
Frequent (79-30%)
HP:0001540Diastasis recti
HP:0001252Hypotonia
HP:0001520Large for gestational age
HP:0002033Poor suck
HP:0008897Postnatal growth retardation
Occasional (29-5%)
HP:0001627Abnormal heart morphology
HP:0002194Delayed gross motor development
HP:0001539Omphalocele
HP:0001548Overgrowth
HP:0001518Small for gestational age
HP:0001537Umbilical hernia
HP:0001629Ventricular septal defect

Run the differential on the 7 obligate / very frequent terms

Annotation source: 32592473[PMID]_26377239[PMID]

7

Sources for this card