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Angelman syndrome
1 OMIM reference -
5 associated genes
110 connected diseases
21 signs/symptoms
Disease Type of connection
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Oculocutaneous albinism type 2
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to translocation
Familial pancreatic carcinoma
Young adult-onset Parkinsonism
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Hereditary breast and ovarian cancer syndrome
Acute promyelocytic leukemia
Amyotrophic lateral sclerosis
Glycogen storage disease due to liver phosphorylase kinase deficiency
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Lymphangioleiomyomatosis
Tuberous sclerosis
MODY syndrome
Complete androgen insensitivity syndrome
Congenital bilateral absence of vas deferens
Cystic fibrosis
Familial hypospadias
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Kennedy disease
Male infertility with normal virilization due to meiosis defect
Partial androgen insensitivity syndrome
Fragile X syndrome
Fragile X-associated tremor / ataxia syndrome
Xq27.3q28 duplication syndrome
Severe combined immunodeficiency due to LCK deficiency
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Estrogen resistance syndrome
Heritable pulmonary arterial hypertension
Developmental delay with autism spectrum disorder and gait instability
Autosomal recessive primary microcephaly
Kufor-Rakeb syndrome
Parkinsonim due to ATP13A2 deficiency
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Inherited acute myeloid leukemia
Papillary or follicular thyroid carcinoma
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
17p13.3 microduplication syndrome
17q11 microdeletion syndrome
46,XY partial gonadal dysgenesis
Aicardi-Goutières syndrome
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Atypical Gaucher disease due to saposin C deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Autosomal dominant methemoglobinemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Catecholaminergic polymorphic ventricular tachycardia
Distal 17p13.3 microdeletion syndrome
Dyschromatosis symmetrica hereditaria
Encephalopathy due to prosaposin deficiency
Familial infantile bilateral striatal necrosis
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Infantile Krabbe disease
Isolated Klippel-Feil syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Methylmalonic acidemia with homocystinuria, type cblX
Miller-Dieker syndrome
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Retinitis pigmentosa
Split hand-split foot malformation
Tyrosinemia type 2
Weaver syndrome
X-linked non-syndromic intellectual deficit
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Williams syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
22q11.2 deletion syndrome
3M syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1F
Glucocorticoid resistance
Primary biliary cirrhosis
Synonym(s):
(no synonyms)
Classification (Orphanet):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D017204
Very frequent
- Anomalies of eyes and vision
- Ataxia / incoordination / trouble of the equilibrium
- Brachycephaly / flat occiput
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Face / facial anomalies
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microcephaly
- Prognathism / prognathia
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Depressed premaxillary region / midface
- Hypereflexia
- Macrostomia / big mouth

Occasional
- Inguinal / inguinoscrotal / crural hernia
- Strabismus / squint