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Obesity, hyperphagia, and developmental delay(OBHD)

MedGen UID:
462653
Concept ID:
C3151303
Disease or Syndrome
Synonyms: OBHD
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): NTRK2 (9q21.33)
OMIM®: 613886

Definition

OBHD is a neurodevelopmental disorder characterized by global developmental delay and hyperphagia resulting in obesity. Some patients may develop seizures (summary by Hamdan et al., 2017). [from OMIM]

Clinical features

Polyphagia
MedGen UID:
9369
Concept ID:
C0020505
Finding
A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
Stereotypy
MedGen UID:
21320
Concept ID:
C0038273
Mental or Behavioral Dysfunction
A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
A finding indicating the absence of balanced proportions between parts of the face.
Severe global developmental delay
MedGen UID:
332436
Concept ID:
C1837397
Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.

Recent clinical studies

Etiology

Turner L, Gregory A, Twells L, Gregory D, Stavropoulos DJ
Child Obes 2015 Apr;11(2):219-23. Epub 2015 Mar 6 doi: 10.1089/chi.2014.0128. PMID: 25747306
Shimada S, Maegaki Y, Osawa M, Yamamoto T
Am J Med Genet A 2014 Feb;164A(2):415-20. doi: 10.1002/ajmg.a.36304. PMID: 24311364
Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S, Hurles ME, Farooqi IS
Nature 2010 Feb 4;463(7281):666-70. Epub 2009 Dec 6 doi: 10.1038/nature08689. PMID: 19966786Free PMC Article
Holsen LM, Zarcone JR, Brooks WM, Butler MG, Thompson TI, Ahluwalia JS, Nollen NL, Savage CR
Obesity (Silver Spring) 2006 Jun;14(6):1028-37. doi: 10.1038/oby.2006.118. PMID: 16861608Free PMC Article
Ayoob KT, Kaminer RK, Zawel J
Ment Retard 1994 Jun;32(3):194-9. PMID: 8084270

Diagnosis

Parente DJ, Garriga C, Baskin B, Douglas G, Cho MT, Araujo GC, Shinawi M
Am J Med Genet A 2017 Jan;173(1):213-216. Epub 2016 Nov 16 doi: 10.1002/ajmg.a.37977. PMID: 27865048
Turner L, Gregory A, Twells L, Gregory D, Stavropoulos DJ
Child Obes 2015 Apr;11(2):219-23. Epub 2015 Mar 6 doi: 10.1089/chi.2014.0128. PMID: 25747306
Shimada S, Maegaki Y, Osawa M, Yamamoto T
Am J Med Genet A 2014 Feb;164A(2):415-20. doi: 10.1002/ajmg.a.36304. PMID: 24311364
Shichiji M, Ito Y, Shimojima K, Nakamu H, Oguni H, Osawa M, Yamamoto T
Am J Med Genet A 2013 Apr;161A(4):850-5. Epub 2013 Mar 12 doi: 10.1002/ajmg.a.35768. PMID: 23494922
D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP
Am J Med Genet A 2013 Mar;161A(3):479-86. Epub 2013 Feb 7 doi: 10.1002/ajmg.a.35761. PMID: 23401328

Therapy

Pravdivyi I, Ballanyi K, Colmers WF, Wevrick R
Hum Mol Genet 2015 Aug 1;24(15):4276-83. Epub 2015 Apr 29 doi: 10.1093/hmg/ddv159. PMID: 25926624
Bridges N
Arch Dis Child 2014 Feb;99(2):166-70. Epub 2013 Oct 25 doi: 10.1136/archdischild-2013-303760. PMID: 24162007

Prognosis

Parente DJ, Garriga C, Baskin B, Douglas G, Cho MT, Araujo GC, Shinawi M
Am J Med Genet A 2017 Jan;173(1):213-216. Epub 2016 Nov 16 doi: 10.1002/ajmg.a.37977. PMID: 27865048
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552
Perrone L, Marzuillo P, Grandone A, del Giudice EM
Ital J Pediatr 2010 Jun 11;36:43. doi: 10.1186/1824-7288-36-43. PMID: 20540750Free PMC Article
Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S
N Engl J Med 2007 Jan 18;356(3):237-47. doi: 10.1056/NEJMoa063988. PMID: 17229951Free PMC Article
Ayoob KT, Kaminer RK, Zawel J
Ment Retard 1994 Jun;32(3):194-9. PMID: 8084270

Clinical prediction guides

Parente DJ, Garriga C, Baskin B, Douglas G, Cho MT, Araujo GC, Shinawi M
Am J Med Genet A 2017 Jan;173(1):213-216. Epub 2016 Nov 16 doi: 10.1002/ajmg.a.37977. PMID: 27865048
Shichiji M, Ito Y, Shimojima K, Nakamu H, Oguni H, Osawa M, Yamamoto T
Am J Med Genet A 2013 Apr;161A(4):850-5. Epub 2013 Mar 12 doi: 10.1002/ajmg.a.35768. PMID: 23494922
D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP
Am J Med Genet A 2013 Mar;161A(3):479-86. Epub 2013 Feb 7 doi: 10.1002/ajmg.a.35761. PMID: 23401328
Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S
N Engl J Med 2007 Jan 18;356(3):237-47. doi: 10.1056/NEJMoa063988. PMID: 17229951Free PMC Article
D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP
Eur J Med Genet 2006 Nov-Dec;49(6):451-60. Epub 2006 Mar 10 doi: 10.1016/j.ejmg.2006.02.001. PMID: 16564757

Recent systematic reviews

Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O
Eur J Hum Genet 2008 Dec;16(12):1443-9. Epub 2008 Jul 23 doi: 10.1038/ejhg.2008.119. PMID: 18648397
Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB
Pediatrics 2001 Nov;108(5):E92. PMID: 11694676

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