ORPHA:96191

Paternal uniparental disomy of chromosome 6 syndrome

Synonyms: UPD(6)pat

Type: Malformation syndrome
Group: Disorder
Age of onset: Antenatal, Neonatal
Status: active

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Paternal uniparental disomy of chromosome 6 syndrome	UPD(6)pat
fr	Syndrome de disomie uniparentale paternelle du chromosome 6	UPD(6) paternelle · UPD(6)pat
de	Uniparentale Disomie 6, paternale	UPD(6)pat · UPDP 6
es	Síndrome de disomía uniparental paterna del cromosoma 6	= en
it	Sindrome disomia uniparentale paterna del cromosoma 6	= en
nl	Paternale uniparentale disomie van chromosoom 6-syndroom	= en
pt	Dissomia uniparental de origem paterna, cromossoma 6
pl	Zespół jednorodzicielskiej disomii chromosomu 6 pochodzenia ojcowskiego	= en
cs	Paternální uniparentální dizomie chromozomu 6	= en
uk	Батькова уніпарентна дисомія хромосоми 6	= en
zh	父源性6号染色体单亲二体	父源性UPD(6)
tr	6. kromozomun paternal uniparental dizomisi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q99.8	NTBT	attributed	validated
ICD-11	LD45.1	NTBT	index	validated
MONDO	0019921	E		validated
UMLS	C4749378	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:98154Paternal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
HYMAI	Role in the phenotype of	Not yet assessed	HGNC:5326	ENSG00000283122	606546	6q24.2	hydatidiform mole associated and imprinted
PLAGL1	Role in the phenotype of	Not yet assessed	HGNC:9046	ENSG00000118495	603044	6q24.2	PLAG1 like zinc finger 1

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

30 annotations · validated 2017-05-17

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000363	Abnormality of earlobe
HP:0000271	Abnormality of the face
HP:0001640	Cardiomegaly
HP:0000028	Cryptorchidism
HP:0001944	Dehydration
HP:0002123	Generalized myoclonic seizure
HP:0000212	Gingival overgrowth
HP:0002240	Hepatomegaly
HP:0000218	High palate
HP:0001804	Hypoplastic fingernail
HP:0001511	Intrauterine growth retardation
HP:0000065	Labial hypertrophy
HP:0000158	Macroglossia
HP:0000347	Micrognathia
HP:0000857	Neonatal insulin-dependent diabetes mellitus
HP:0002643	Neonatal respiratory distress
HP:0001562	Oligohydramnios
HP:0008897	Postnatal growth retardation
HP:0000826	Precocious puberty
HP:0000448	Prominent nose
HP:0000269	Prominent occiput
HP:0000278	Retrognathia
HP:0000586	Shallow orbits
HP:0000237	Small anterior fontanelle
HP:0001537	Umbilical hernia
HP:0001629	Ventricular septal defect
Occasional (29-5%)
HP:0010866	Abdominal wall defect
HP:0100767	Abnormality of the placenta
HP:0001382	Joint hypermobility
HP:0001643	Patent ductus arteriosus

Run the differential on the 12 obligate / very frequent terms

Annotation source: 11448939[PMID]_10936046[PMID]_18486206[PMID]_11515731[PMID]_11038325[PMID]_9039998[PMID]_9894800[PMID]_11334617[PMID]_19114626[PMID]_20186794[PMID]_20412110[PMID]_25124546[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/96191
This record as JSON: /data/d/96191.json