ORPHA:72

Angelman syndrome

Type: Malformation syndrome
Group: Disorder
Inheritance: Not applicable
Age of onset: Infancy
Status: active

A rare genetic neurodevelopmental disorder characterized by moderate to severe intellectual disability, microcephaly, seizures, ataxic gait and distinct abnormal facial shape.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Angelman syndrome
fr	Syndrome d'Angelman
de	Angelman-Syndrom
es	Síndrome de Angelman
it	Sindrome di Angelman
nl	Syndroom van Angelman
pt	Síndrome Angelman
pl	Zespół Angelmana
cs	Angelmanův syndrom
uk	Синдром Ангельмана
zh	天使综合征
tr	Angelman sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	105830	E		validated
ICD-10	Q93.5	NTBT	inclusion	validated
ICD-11	LD90.0	E	specific	validated
MONDO	0007113	E		validated
MeSH	D017204	E		validated
UMLS	C0162635	E		validated
GARD	5810	E		validated
MedDRA	10049004	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:98006Rare neurologic disease

Parents in the classifications (5):

ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases
ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases
ORPHA:641343Imprinting disorders
rare genetic diseases
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
ORPHA:98033Rare neurologic disease with psychiatric involvement
rare neurological diseases

Children (4):

Genes

0 direct · 7 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
UBE3A	ORPHA:411511Angelman syndrome due to a point mutation	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12496	ENSG00000114062	601623	15q11.2	ubiquitin protein ligase E3A	22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]
ATP10A	ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13	Role in the phenotype of	Assessed	HGNC:13542	ENSG00000206190	605855	15q12	ATPase phospholipid transporting 10A (putative)	11326269[PMID]_17347796[PMID]
OCA2	ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion	Role in the phenotype of	Assessed	HGNC:8101	ENSG00000104044	611409	15q12-q13.1	OCA2 melanosomal transmembrane protein	10905897[PMID]_20301323[PMID]
SNRPN	ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13	Role in the phenotype of	Assessed	HGNC:11164	ENSG00000128739	182279	15q11.2	small nuclear ribonucleoprotein polypeptide N	17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]
UBE3A	ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion	Role in the phenotype of	Assessed	HGNC:12496	ENSG00000114062	601623	15q11.2	ubiquitin protein ligase E3A	22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]
UBE3A	ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15	Role in the phenotype of	Assessed	HGNC:12496	ENSG00000114062	601623	15q11.2	ubiquitin protein ligase E3A	22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]
UBE3A	ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13	Role in the phenotype of	Assessed	HGNC:12496	ENSG00000114062	601623	15q11.2	ubiquitin protein ligase E3A	17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]

Prevalence and incidence

12 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 100 000	7.5 / 100 000	Worldwide	Value and class	Validated	20301323[PMID]_21587322[PMID]_[EXPERT]_ORPHANET
Prevalence at birth	1-9 / 100 000	1.3 / 100 000	Europe	Value and class	Validated	EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]
Point prevalence	1-9 / 100 000	—	Europe	Class only	Validated	EUROCAT European surveillance of congenital anomalies 2005-2009[OTHER]
Prevalence at birth	1-9 / 100 000	2.5 / 100 000	Australia	Value and class	Validated	16492624[PMID]
Point prevalence	1-9 / 100 000	—	Australia	Class only	Not yet validated	16492624[PMID]
Prevalence at birth	1-9 / 100 000	5 / 100 000	Spain	Value and class	Validated	12373673[PMID]
Point prevalence	1-9 / 100 000	8.3 / 100 000	Spain	Value and class	Validated	12373673[PMID]
Prevalence at birth	1-9 / 100 000	1.8 / 100 000	Estonia	Value and class	Validated	16906556[PMID]
Point prevalence	1-9 / 100 000	—	Estonia	Class only	Not yet validated	16906556[PMID]
Point prevalence	1-5 / 10 000	10 / 100 000	Denmark	Value and class	Validated	7573182[PMID]
Prevalence at birth	1-9 / 1 000 000	0.5 / 100 000	Denmark	Value and class	Validated	23913711[PMID]
Point prevalence	1-9 / 100 000	4 / 100 000	United Kingdom	Value and class	Validated	21152085[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.

HPO phenotypes

71 annotations · validated 2021-05-03

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0002167	Abnormality of speech or vocalization
HP:0001251	Ataxia
HP:0000708	Atypical behavior
HP:0000729	Autistic behavior
HP:0002136	Broad-based gait
HP:0002120	Cerebral cortical atrophy
HP:0000750	Delayed speech and language development
HP:0002353	EEG abnormality
HP:0000752	Hyperactivity
HP:0000748	Inappropriate laughter
HP:0010864	Intellectual disability, severe
HP:0000252	Microcephaly
HP:0001270	Motor delay
HP:0002465	Poor speech
HP:0001250	Seizure
HP:0100716	Self-injurious behavior
HP:0011344	Severe global developmental delay
HP:0002360	Sleep abnormality
HP:0001337	Tremor
Frequent (79-30%)
HP:0001999	Abnormal facial shape
HP:0011024	Abnormality of the gastrointestinal tract
HP:0000483	Astigmatism
HP:0002019	Constipation
HP:0002307	Drooling
HP:0002286	Fair hair
HP:0011968	Feeding difficulties
HP:0008947	Floppy infant
HP:0002020	Gastroesophageal reflux
HP:0001010	Hypopigmentation of the skin
HP:0007730	Iris hypopigmentation
HP:0001513	Obesity
HP:0002591	Polyphagia
HP:0010808	Protruding tongue
HP:0100023	Recurrent hand flapping
HP:0002650	Scoliosis
HP:0006979	Sleep-wake cycle disturbance
HP:0000486	Strabismus
HP:0000154	Wide mouth
Occasional (29-5%)
HP:0001344	Absent speech
HP:0000718	Aggressive behavior
HP:0000646	Amblyopia
HP:0000739	Anxiety
HP:0010819	Atonic seizure
HP:0007270	Atypical absence seizure
HP:0007266	Cerebral dysmyelination
HP:0012569	Delayed menarche
HP:0002015	Dysphagia
HP:0005469	Flat occiput
HP:0011471	Gastrostomy tube feeding in infancy
HP:0002123	Generalized myoclonic seizure
HP:0040082	Happy demeanor
HP:0000540	Hypermetropia
HP:0002540	Inability to walk
HP:0000563	Keratoconus
HP:0000303	Mandibular prognathia
HP:0001336	Myoclonus
HP:0000545	Myopia
HP:0040288	Nasogastric tube feeding
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000543	Optic disc pallor
HP:0008081	Pes valgus
HP:0002033	Poor suck
HP:0010465	Precocious puberty in females
HP:0000508	Ptosis
HP:0000817	Reduced eye contact
HP:0002133	Status epilepticus
HP:0100703	Tongue thrusting
HP:0002013	Vomiting
HP:0000687	Widely spaced teeth
Very rare (<4-1%)
HP:0012469	Infantile spasms

Run the differential on the 12 obligate / very frequent terms

Annotation source: 20301323[PMID]_32087041[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/72
This record as JSON: /data/d/72.json