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Angelman syndrome(AS)

MedGen UID:
58144
Concept ID:
C0162635
Disease or Syndrome
Synonyms: Angelman syndrome-like; AS; HAPPY PUPPET SYNDROME; Happy puppet syndrome (formerly)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Inheritance with unknown mechanism
MedGen UID:
831588
Concept ID:
CN227389
Intellectual Product
Source: Orphanet
Describes an inherited disorder with unknown mode of inheritance.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Sporadic (HPO, OMIM)
not inherited (Orphanet)
SNOMED CT: Angelman's syndrome (76880004); Angelman syndrome (76880004); Happy puppet syndrome (76880004)
 
Gene (location): UBE3A (15q11.2)
OMIM®: 105830
Orphanet: ORPHA72

Disease characteristics

Excerpted from the GeneReview: Angelman Syndrome
Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year, and it can take several years before the correct clinical diagnosis is obvious. [from GeneReviews]
Authors:
Aditi I Dagli  |  Jennifer Mueller  |  Charles A Williams   view full author information

Additional descriptions

From OMIM
Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region. Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.  http://www.omim.org/entry/105830
From GHR
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual.With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as "coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.  https://ghr.nlm.nih.gov/condition/angelman-syndrome

Clinical features

Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. . Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. . Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Constipation means that a person has three or fewer bowel movements in a week. The stool can be hard and dry. Sometimes it is painful to pass. At one time or another, almost everyone gets constipated. In most cases, it lasts a short time and is not serious. . There are many things you can do to prevent constipation. They include - Eating more fruits, vegetables and grains, which are high in fiber. - Drinking plenty of water and other liquids. - Getting enough exercise. - Taking time to have a bowel movement when you need to. - Using laxatives only if your doctor says you should. - Asking your doctor if medicines you take may cause constipation. . It's not important that you have a bowel movement every day. If your bowel habits change, however, check with your doctor. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
Increased length and width of the tongue.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Wide mouth
MedGen UID:
44238
Concept ID:
C0024433
Congenital Abnormality
Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.

Professional guidelines

PubMed

Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS
Genet Med 2016 Oct;18(10):1056-65. Epub 2016 Jul 28 doi: 10.1038/gim.2016.97. PMID: 27467454
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC; European Society of Human Genetics.; American Society of Human Genetics.
Eur J Hum Genet 2015 Nov;23(11):1438-50. Epub 2015 Mar 18 doi: 10.1038/ejhg.2015.57. PMID: 25782669Free PMC Article
Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee.
Genet Med 2013 May;15(5):399-407. Epub 2013 Mar 21 doi: 10.1038/gim.2013.32. PMID: 23519317
Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB
Genet Med 2001 May-Jun;3(3):206-11. doi: 10.109700125817-200105000-00011. PMID: 11388763Free PMC Article

External

Eurogentest, 2008

Recent clinical studies

Etiology

Granild Bie Mertz L, Christensen R, Vogel I, Hertz JM, Østergaard JR
Res Dev Disabil 2016 Sep;56:177-82. doi: 10.1016/j.ridd.2016.06.002. PMID: 27323320
Sewell MD, Wallace C, Gibson A, Noordeen H, Tucker S, Molloy S, Lehovsky J
Dev Neurorehabil 2016 Oct;19(5):315-20. Epub 2014 Dec 30 doi: 10.3109/17518423.2014.980524. PMID: 25549057
Miodrag N, Peters S
J Intellect Disabil Res 2015 Sep;59(9):816-26. Epub 2015 Apr 1 doi: 10.1111/jir.12195. PMID: 25833412
Robinson AA, Goldman S, Barnes G, Goodpaster L, Malow BA
J Child Neurol 2015 Jan;30(1):58-62. Epub 2014 May 11 doi: 10.1177/0883073814530498. PMID: 24820335
Thibert RL, Pfeifer HH, Larson AM, Raby AR, Reynolds AA, Morgan AK, Thiele EA
Epilepsia 2012 Sep;53(9):1498-502. Epub 2012 Jul 10 doi: 10.1111/j.1528-1167.2012.03537.x. PMID: 22779920

Diagnosis

Fernandes ML, do Carmo Santos M, Gomez RS
Braz J Anesthesiol 2016 Mar-Apr;66(2):212-4. Epub 2014 Mar 31 doi: 10.1016/j.bjane.2013.06.020. PMID: 26952234
Ranasinghe JC, Chandradasa D, Fernando S, Kodithuwakku U, Mandawala DE, Dissanayake VH
J Med Case Rep 2015 Jun 16;9:142. doi: 10.1186/s13256-015-0622-8. PMID: 26077608Free PMC Article
Robinson AA, Goldman S, Barnes G, Goodpaster L, Malow BA
J Child Neurol 2015 Jan;30(1):58-62. Epub 2014 May 11 doi: 10.1177/0883073814530498. PMID: 24820335
Goto M, Saito Y, Honda R, Saito T, Sugai K, Matsuda Y, Miyatake C, Takeshita E, Ishiyama A, Komaki H, Nakagawa E, Sasaki M, Uto C, Kikuchi K, Motoki T, Saitoh S
Brain Dev 2015 Feb;37(2):216-22. Epub 2014 May 3 doi: 10.1016/j.braindev.2014.04.005. PMID: 24796722
Thibert RL, Larson AM, Hsieh DT, Raby AR, Thiele EA
Pediatr Neurol 2013 Apr;48(4):271-9. doi: 10.1016/j.pediatrneurol.2012.09.015. PMID: 23498559

Therapy

Fernandes ML, do Carmo Santos M, Gomez RS
Braz J Anesthesiol 2016 Mar-Apr;66(2):212-4. Epub 2014 Mar 31 doi: 10.1016/j.bjane.2013.06.020. PMID: 26952234
Kaskowitz AP, Dendrinos M, Murray PJ, Quint EH, Ernst S
J Pediatr Adolesc Gynecol 2016 Aug;29(4):348-52. Epub 2015 Dec 21 doi: 10.1016/j.jpag.2015.12.004. PMID: 26718530Free PMC Article
Sewell MD, Wallace C, Gibson A, Noordeen H, Tucker S, Molloy S, Lehovsky J
Dev Neurorehabil 2016 Oct;19(5):315-20. Epub 2014 Dec 30 doi: 10.3109/17518423.2014.980524. PMID: 25549057
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
Thibert RL, Pfeifer HH, Larson AM, Raby AR, Reynolds AA, Morgan AK, Thiele EA
Epilepsia 2012 Sep;53(9):1498-502. Epub 2012 Jul 10 doi: 10.1111/j.1528-1167.2012.03537.x. PMID: 22779920

Prognosis

Zhang K, Liu S, Feng B, Yang Y, Zhang H, Dong R, Liu Y, Gai Z
PLoS One 2016;11(2):e0147824. Epub 2016 Feb 3 doi: 10.1371/journal.pone.0147824. PMID: 26841067Free PMC Article
Sachdeva R, Donkers SJ, Kim SY
Clin Anat 2016 Jul;29(5):561-7. Epub 2015 Nov 17 doi: 10.1002/ca.22659. PMID: 26480021
Mertz LG, Christensen R, Vogel I, Hertz JM, Nielsen KB, Grønskov K, Østergaard JR
Am J Med Genet A 2013 Sep;161A(9):2197-203. Epub 2013 Aug 2 doi: 10.1002/ajmg.a.36058. PMID: 23913711
Novy J, Catarino CB, Chinthapalli K, Smith SM, Clayton-Smith J, Hennekam RC, Hammond P, Sisodiya SM
Eur J Med Genet 2012 May;55(5):338-41. Epub 2012 Jan 25 doi: 10.1016/j.ejmg.2012.01.008. PMID: 22342448
Vendrame M, Loddenkemper T, Zarowski M, Gregas M, Shuhaiber H, Sarco DP, Morales A, Nespeca M, Sharpe C, Haas K, Barnes G, Glaze D, Kothare SV
Epilepsy Behav 2012 Mar;23(3):261-5. Epub 2012 Feb 16 doi: 10.1016/j.yebeh.2011.11.027. PMID: 22341959

Clinical prediction guides

Fernandes ML, do Carmo Santos M, Gomez RS
Braz J Anesthesiol 2016 Mar-Apr;66(2):212-4. Epub 2014 Mar 31 doi: 10.1016/j.bjane.2013.06.020. PMID: 26952234
Sewell MD, Wallace C, Gibson A, Noordeen H, Tucker S, Molloy S, Lehovsky J
Dev Neurorehabil 2016 Oct;19(5):315-20. Epub 2014 Dec 30 doi: 10.3109/17518423.2014.980524. PMID: 25549057
Wink LK, Fitzpatrick S, Shaffer R, Melnyk S, Begtrup AH, Fox E, Schaefer TL, Mathieu-Frasier L, Ray B, Lahiri D, Horn PA, Erickson CA
Am J Med Genet A 2015 Nov;167A(11):2623-8. Epub 2015 Jul 29 doi: 10.1002/ajmg.a.37254. PMID: 26219744
Mertz LG, Christensen R, Vogel I, Hertz JM, Østergaard JR
Res Dev Disabil 2014 Nov;35(11):2681-90. Epub 2014 Jul 26 doi: 10.1016/j.ridd.2014.07.025. PMID: 25064682
Thibert RL, Pfeifer HH, Larson AM, Raby AR, Reynolds AA, Morgan AK, Thiele EA
Epilepsia 2012 Sep;53(9):1498-502. Epub 2012 Jul 10 doi: 10.1111/j.1528-1167.2012.03537.x. PMID: 22779920

Recent systematic reviews

Bi X, Sun J, Ji AX, Baudry M
Expert Opin Ther Targets 2016;20(5):601-13. Epub 2015 Nov 26 doi: 10.1517/14728222.2016.1115837. PMID: 26558806Free PMC Article
Leung HT, Ring H
J Intellect Disabil Res 2013 Jan;57(1):3-20. Epub 2011 Dec 6 doi: 10.1111/j.1365-2788.2011.01505.x. PMID: 22142420
Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K, Pampanos A, Mavrou A, Kanavakis E
Am J Med Genet A 2010 Aug;152A(8):1925-32. doi: 10.1002/ajmg.a.33447. PMID: 20575009
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J
Am J Med Genet A 2006 Mar 1;140(5):413-8. doi: 10.1002/ajmg.a.31074. PMID: 16470747
Valente KD, Koiffmann CP, Fridman C, Varella M, Kok F, Andrade JQ, Grossmann RM, Marques-Dias MJ
Arch Neurol 2006 Jan;63(1):122-8. doi: 10.1001/archneur.63.1.122. PMID: 16401744

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