raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:96334

Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14

Synonyms: UPD(14)pat

Type
Etiological subtype
Group
Subtype of disorder
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 paternal uniparental disomy of chromosome 14UPD(14)pat
frSyndrome de Kagami-Ogata lié à une disomie uniparentale paternelle du chromosome 14UPD(14) paternelle · UPD(14)pat
deKagami-Ogata-Syndrom durch paternale uniparentale Disomie von Chromosom 14= en
esSíndrome de Kagami-Ogata por disomía uniparental paterna del cromosoma 14= en
itDisomia uniparentale paterna del cromosoma 14= en
nlSyndroom van Kagami-Ogata door paternale uniparentale disomie van chromosoom 14= en
ptDissomia uniparental de origem paterna, cromossoma 14
plOjcowska jednorodzicielska disomia chromosomu 14= en
csPaternální uniparentální dizomie chromozomu 14= en
ukСиндром Кагамі-Огата, зумовлений батьковою уніпарентною дисомією хромосоми 14= en
zh父系14号染色体单亲二体型Kagami-Ogata综合征父源性UPD(14)
trKromozom 14'ün paternal uniparental disomisine bağlı Kagami-Ogata sendromuUPD (14) pat
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM608149NTBTvalidated
ICD-10Q99.8NTBTattributedvalidated
ICD-11LD2YNTBTattributedvalidated
MONDO0011975Evalidated
UMLSC5680251Evalidated
GARD5409Evalidated

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):

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
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET_26377239[PMID]
Cases/families37 casesWorldwideCase(s)Validated26377239[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

120 annotations · validated 2020-11-06
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0006665Coat hanger sign of ribs
Very frequent (99-80%)
HP:0001999Abnormal facial shape
HP:0011968Feeding difficulties
HP:0001263Global developmental delay
HP:0006267Large placenta
HP:0001561Polyhydramnios
Frequent (79-30%)
HP:0000924Abnormality of the skeletal system
HP:0011823Chin with horizontal crease
HP:0002002Deep philtrum
HP:0005280Depressed nasal bridge
HP:0001540Diastasis recti
HP:0001371Flexion contracture
HP:0011335Frontal hirsutism
HP:0001510Growth delay
HP:0002866Hypoplastic iliac wing
HP:0002751Kyphoscoliosis
HP:0009826Limb undergrowth
HP:0000158Macroglossia
HP:0008551Microtia
HP:0000767Pectus excavatum
HP:0008897Postnatal growth retardation
HP:0001622Premature birth
HP:0002878Respiratory failure
HP:0000278Retrognathia
HP:0000470Short neck
HP:0012745Short palpebral fissure
HP:0005268Spontaneous abortion
HP:0005257Thoracic hypoplasia
Occasional (29-5%)
HP:0012303Abnormal aortic arch morphology
HP:0009832Abnormal distal phalanx morphology of finger
HP:0000919Abnormality of the costochondral junction
HP:0006591Absent glenoid fossa
HP:0001181Adducted thumb
HP:0000907Anterior rib cupping
HP:0000463Anteverted nares
HP:0001631Atrial septal defect
HP:0000581Blepharophimosis
HP:0009836Broad distal phalanx of finger
HP:0012385Camptodactyly
HP:0011824Chin with H-shaped crease
HP:0040024Clinodactyly of the 3rd finger
HP:0002673Coxa valga
HP:0000028Cryptorchidism
HP:0000973Cutis laxa
HP:0000490Deeply set eye
HP:0002307Drooling
HP:0000286Epicanthus
HP:0010655Epiphyseal stippling
HP:0003241External genital hypoplasia
HP:0009600Flexion contracture of thumb
HP:0002007Frontal bossing
HP:0011471Gastrostomy tube feeding in infancy
HP:0002937Hemivertebrae
HP:0002884Hepatoblastoma
HP:0002240Hepatomegaly
HP:0001433Hepatosplenomegaly
HP:0004299Hernia of the abdominal wall
HP:0001615Hoarse cry
HP:0001639Hypertrophic cardiomyopathy
HP:0000327Hypoplasia of the maxilla
HP:0000946Hypoplastic ilia
HP:0002557Hypoplastic nipples
HP:0000882Hypoplastic scapulae
HP:0001252Hypotonia
HP:0001220Interphalangeal joint contracture of finger
HP:0003186Inverted nipples
HP:0001520Large for gestational age
HP:0001601Laryngomalacia
HP:0001339Lissencephaly
HP:0000890Long clavicles
HP:0000343Long philtrum
HP:0000303Mandibular prognathia
HP:0005054Metaphyseal spurs
HP:0001840Metatarsus adductus
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0011343Moderate global developmental delay
HP:0000774Narrow chest
HP:0000160Narrow mouth
HP:0001539Omphalocele
HP:0007685Peripheral retinal avascularization
HP:0001357Plagiocephaly
HP:0000358Posteriorly rotated ears
HP:0012428Prominent calcaneus
HP:0002057Prominent glabella
HP:0000884Prominent sternum
HP:0001538Protuberant abdomen
HP:0002092Pulmonary arterial hypertension
HP:0004415Pulmonary artery stenosis
HP:0002089Pulmonary hypoplasia
HP:0005989Redundant neck skin
HP:0002091Restrictive ventilatory defect
HP:0002694Sclerosis of skull base
HP:0002650Scoliosis
HP:0001250Seizure
HP:0011344Severe global developmental delay
HP:0010034Short 1st metacarpal
HP:0100864Short femoral neck
HP:0000322Short philtrum
HP:0000773Short ribs
HP:0004322Short stature
HP:0005736Short tibia
HP:0000954Single transverse palmar crease
HP:0001792Small nail
HP:0012284Small proximal tibial epiphyses
HP:0010301Spinal dysraphism
HP:0010804Tented upper lip vermilion
HP:0012471Thick vermilion border
HP:0002982Tibial bowing
HP:0003049Ulnar deviation of the wrist
HP:0010561Undulate ribs
HP:0009824Upper limb undergrowth
HP:0001629Ventricular septal defect
HP:0000260Wide anterior fontanel
HP:0006610Wide intermamillary distance
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0002645Wormian bones
Very rare (<4-1%)
HP:0001511Intrauterine growth retardation
HP:0001548Overgrowth

Run the differential on the 6 obligate / very frequent terms

Annotation source: 17702046[PMID]_26377239[PMID]

7

Sources for this card