ORPHA:98795

Angelman syndrome due to paternal uniparental disomy of chromosome 15

Synonyms: UPD(15)pat

This disease is described under Angelman syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Angelman syndrome due to paternal uniparental disomy of chromosome 15	UPD(15)pat
fr	Syndrome d'Angelman dû à une disomie uniparentale paternelle du chromosome 15	UPD(15) paternelle · UPD(15)pat
de	Angelman-Syndrom durch paternale UPD 15	= en
es	Síndrome de Angelman por disomía uniparental paterna del cromosoma 15	= en
it	Sindrome di Angelman da disomia uniparentale paterna del cromosoma 15	= en
nl	Syndroom van Angelman door paternale uniparentale disomie van chromosoom 15	= en
pt	Dissomia uniparental de origem paterna, cromossoma 15
pl	Zespół Angelmana z powodu ojcowskiej uniparentalnej disomii chromosomu 15	= en
cs	Angelmanův syndrom způsobený paternální uniparentální dizomií chromozomu 15	UDP(15)pat
uk	Синдром Ангельмана, зумовлений батьковою уніпарентною дисомією хромосоми 15	= en
zh	15号染色体父源单亲二体型天使综合征	父源性UPD(15)
tr	15. kromozomun paternal uniparental dizomisine bağlı Angelman sendromu	UPD (15) pat

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	105830	NTBT		validated
ICD-10	Q93.5	NTBT	attributed	validated
ICD-11	LD90.0	NTBT	attributed	validated
MONDO	0020303	E		validated
UMLS	C5680342	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:72Angelman syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
ORPHA:98154Paternal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
UBE3A	Role in the phenotype of	Assessed	HGNC:12496	ENSG00000114062	601623	15q11.2	ubiquitin protein ligase E3A	22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]

0 records

No prevalence record in this release.

28 annotations · validated 2020-11-03

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0002353	EEG abnormality
HP:0011968	Feeding difficulties
HP:0001263	Global developmental delay
HP:0005599	Hypopigmentation of hair
HP:0001010	Hypopigmentation of the skin
HP:0001249	Intellectual disability
HP:0007730	Iris hypopigmentation
HP:0002395	Lower limb hyperreflexia
HP:0002465	Poor speech
HP:0010808	Protruding tongue
HP:0001250	Seizure
HP:0100703	Tongue thrusting
HP:0000154	Wide mouth
HP:0000687	Widely spaced teeth
Occasional (29-5%)
HP:0002167	Abnormality of speech or vocalization
HP:0007270	Atypical absence seizure
HP:0002069	Bilateral tonic-clonic seizure
HP:0025190	Bilateral tonic-clonic seizure with generalized onset
HP:0002136	Broad-based gait
HP:0004485	Cessation of head growth
HP:0002015	Dysphagia
HP:0011185	EEG with focal epileptiform discharges
HP:0008947	Floppy infant
HP:0002141	Gait imbalance
HP:0002046	Heat intolerance
HP:0000303	Mandibular prognathia
HP:0002033	Poor suck
HP:0005484	Secondary microcephaly

Annotation source: 20301323[PMID]_16226874[PMID]_28647735[PMID]