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Polyphagia

MedGen UID:
9369
Concept ID:
C0020505
Finding
Synonyms: Hyperphagia; Increased appetite; Voracious appetite
SNOMED CT: Overeats (58424009); Hyperphagia (267023007); Gluttony (267023007); Excessive oral food intake (58424009); Excessive eating - polyphagia (267023007); Polyphagia (267023007); Excessive eating (267023007); Overeating (58424009)
 
HPO: HP:0002591

Definition

A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. [from HPO]

Conditions with this feature

Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
The type of diabetes mellitus called IDDM is a disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of IDDM have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classical phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Familial renal glucosuria
MedGen UID:
6650
Concept ID:
C0017980
Disease or Syndrome
Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. Glucosuria in these patients can range from less than 1 to over 150 g/1.73 m(2) per day (Santer and Calado, 2010).
Prader-Willi syndrome
MedGen UID:
46057
Concept ID:
C0032897
Disease or Syndrome
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present.
Kleine-Levin syndrome
MedGen UID:
61511
Concept ID:
C0206085
Disease or Syndrome
The Kleine-Levin hibernation syndrome, a rare disorder that occurs predominantly in males, is characterized by episodic attacks of aberrant behavior, hypersomnia, and increased feeding (megaphagia) and sex drives (Kleine, 1925; Levin, 1929).
Pick disease
MedGen UID:
116020
Concept ID:
C0236642
Disease or Syndrome
Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.
Frontotemporal dementia
MedGen UID:
83266
Concept ID:
C0338451
Disease or Syndrome
Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of Tauopathies Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy. Other neurodegenerative associated with mutations in the MAPT gene include Pick disease (172700) and progressive supranuclear palsy (PSP; 601104), Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' (Lee et al., 2001). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar Degeneration Mutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (607485), caused by mutation in the GRN gene (138945) on chromosome 17q21; FTLD mapping to chromosome 3 (600795), caused by mutation in the CHMP2B gene (609512); inclusion body myopathy with Paget disease and FTD (IBMPFD; 167320), caused by mutation in the VCP gene (601023) on chromosome 9p13; ALS6 (608030), caused by mutation in the FUS gene (137070) on 16p11; ALS10 (612069), caused by mutation in the TARDBP gene (605078) on 1p36; and FTDALS (105550), caused by mutation in the C9ORF72 gene (614260) on 9p. In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; 104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; 607822).
Congenital generalized lipodystrophy type 1
MedGen UID:
318592
Concept ID:
C1720862
Disease or Syndrome
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.
Congenital generalized lipodystrophy type 2
MedGen UID:
318593
Concept ID:
C1720863
Congenital Abnormality
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.
Chromosome 1p36 deletion syndrome
MedGen UID:
334629
Concept ID:
C1842870
Disease or Syndrome
The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36.
Frontotemporal dementia, ubiquitin-positive
MedGen UID:
375285
Concept ID:
C1843792
Disease or Syndrome
The spectrum of frontotemporal dementia associated with GRN (also known as PGRN) mutation (FTD-GRN or FTD-PGRN) includes the behavioral variant (FTD-bv), primary progressive aphasia (PPA; further subcategorized as progressive non-fluent aphasia [PNFA] and semantic dementia [SD]), and movement disorders with extrapyramidal features such as parkinsonism and corticobasal syndrome. A broad range of clinical features both within and across families is observed. The age of onset ranges from 35 to 87 years. Behavioral disturbances are the most common early feature, followed by progressive aphasia. Impairment in executive function manifests as loss of judgment and insight. In early stages, PPA often manifests as deficits in naming, word finding, or word comprehension. In late stages, affected individuals often become mute and lose their ability to communicate. Early findings of parkinsonism include rigidity, bradykinesia or akinesia (slowing or absence of movements), limb dystonia, apraxia (loss of ability to carry out learned purposeful movements), and disequilibrium. Late motor findings may include myoclonus, dysarthria, and dysphagia. Most affected individuals eventually lose the ability to walk. Disease duration is three to 12 years.
Hypotonia-cystinuria syndrome
MedGen UID:
341133
Concept ID:
C1848030
Disease or Syndrome
Graves disease
MedGen UID:
341307
Concept ID:
C1848795
Finding
Graves disease is an autoimmune disorder in which antibodies to the thyrotropin receptor (TSHR; 603372) result in constitutive activation of the receptor and increased levels of thyroid hormone. Wilkin (1990) reviewed endocrine disorders of hormone excess and hormone deficiency resulting from receptor autoimmunity.
Macrosomia adiposa congenita
MedGen UID:
340875
Concept ID:
C1855468
Disease or Syndrome
Proopiomelanocortin deficiency
MedGen UID:
341863
Concept ID:
C1857854
Disease or Syndrome
Proopiomelanocortin (POMC) deficiency is characterized by severe, early-onset hyperphagic obesity and congenital adrenal insufficiency, the latter secondary to corticotropin (ACTH) deficiency. In the first months of life most children with POMC deficiency experience exponential weight gain, hyperphagia, cholestasis, and adrenal insufficiency. Weight gain continues rapidly, so that by the end of the first year of life obesity is severe (i.e., weight well above the 98th centile for age, without increased height). Red hair and Fitzpatrick type 1 skin (which always burns and never tans) are common, but not invariably present. On occasion central hypothyroidism (resulting from thyroid stimulating hormone [TSH] deficiency), adolescent-onset growth hormone (GH) deficiency, and adolescent-onset hypogonadotropic hypogonadism resulting from deficiency of luteinizing hormone (LH) and follicule stimulating hormone (FSH) can be observed.
Mental retardation, autosomal dominant 1
MedGen UID:
409857
Concept ID:
C1969562
Disease or Syndrome
MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay / intellectual disability (DD/ID), severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in about 80%; onset is usually around age two years. Sleep disturbances, present in about 80%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (60%).
Obesity, hyperphagia, and developmental delay
MedGen UID:
462653
Concept ID:
C3151303
Disease or Syndrome
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).
Leptin deficiency or dysfunction
MedGen UID:
767138
Concept ID:
C3554224
Disease or Syndrome
Leptin deficiency is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (Ozata et al., 1999).
Leptin receptor deficiency
MedGen UID:
767139
Concept ID:
C3554225
Disease or Syndrome
Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by Dehghani et al., 2018).
Chromosome 22q13 duplication syndrome
MedGen UID:
816174
Concept ID:
C3809844
Disease or Syndrome
Schaaf-yang syndrome
MedGen UID:
816207
Concept ID:
C3809877
Disease or Syndrome
SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)
Chromosome Xq26.3 duplication syndrome
MedGen UID:
856021
Concept ID:
C3891556
Disease or Syndrome
X-linked acrogigantism is the occurrence of pituitary gigantism in an individual heterozygous or hemizygous for a germline or somatic duplication of GPR101. X-linked acrogigantism is characterized by acceleration of linear growth in early childhood – in most cases during the first two years of life – due to growth hormone (GH) excess. Most individuals with X-linked acrogigantism present with associated hyperprolactinemia due to a mixed GH- and prolactin-secreting pituitary adenoma with or without associated hyperplasia; less commonly they develop diffuse hyperplasia of the GH- and prolactin-secreting pituitary cells without a pituitary adenoma. Most affected individuals are females. Growth acceleration is the main presenting feature; other frequently observed clinical features include enlargement of hands and feet, coarsening of the facial features, and increased appetite. Neurologic signs or symptoms are rarely present. Untreated X-linked acrogigantism can lead to markedly increased stature, with obvious severe physical and psychological sequelae.
Luscan-lumish syndrome
MedGen UID:
898669
Concept ID:
C4085873
Disease or Syndrome
Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)

Recent clinical studies

Etiology

Dou HY, Wang YY, Yang N, Heng ML, Zhou X, Bu HE, Xu F, Zhao TN, Huang H, Wang HW
Chin J Integr Med 2017 Jun;23(6):415-424. Epub 2016 Feb 26 doi: 10.1007/s11655-015-2290-3. PMID: 26919830
Yu X, Song S, Yang F, Dai H, Yang Z
Niger J Clin Pract 2015 Mar-Apr;18(2):183-8. doi: 10.4103/1119-3077.151038. PMID: 25665989
Zoli M, Mazzatenta D, Valluzzi A, Marucci G, Acciarri N, Pasquini E, Frank G
Neurosurg Focus 2014;37(4):E11. doi: 10.3171/2014.7.FOCUS14317. PMID: 25270130
Sherafat-Kazemzadeh R, Ivey L, Kahn SR, Sapp JC, Hicks MD, Kim RC, Krause AJ, Shomaker LB, Biesecker LG, Han JC, Yanovski JA
Pediatr Obes 2013 Oct;8(5):e64-7. Epub 2013 Jun 18 doi: 10.1111/j.2047-6310.2013.00182.x. PMID: 23776152Free PMC Article
Shera AS, Miyan Z, Basit A, Maqsood A, Ahmadani MY, Fawwad A, Riaz M
Pediatr Diabetes 2008 Aug;9(4 Pt 2):401-6. doi: 10.1111/j.1399-5448.2007.00309.x. PMID: 18221426

Diagnosis

Packer RM, De Risio L, Volk HA
BMC Vet Res 2017 Apr 7;13(1):90. doi: 10.1186/s12917-017-1000-0. PMID: 28388948Free PMC Article
Rodríguez G, Vargas E, Abaúnza C, Cáceres S
Biomedica 2016 Jun 3;36(2):176-81. doi: 10.7705/biomedica.v36i3.2723. PMID: 27622478
Teti C, Castelletti L, Allegretti L, Talco M, Zona G, Minuto F, Boschetti M, Ferone D
Pituitary 2015 Oct;18(5):592-7. doi: 10.1007/s11102-014-0612-7. PMID: 25311104
Hochberg I, Hochberg Z
Obes Rev 2010 Oct;11(10):709-21. doi: 10.1111/j.1467-789X.2010.00727.x. PMID: 20233310
Villadsen AB, Pedersen EB
Acta Paediatr Scand 1987 Jan;76(1):179-83. doi: 10.1111/j.1651-2227.1987.tb10444.x. PMID: 3471044

Therapy

Packer RM, De Risio L, Volk HA
BMC Vet Res 2017 Apr 7;13(1):90. doi: 10.1186/s12917-017-1000-0. PMID: 28388948Free PMC Article
Luvuno M, Mbongwa HP, Khathi A
Afr J Tradit Complement Altern Med 2016;13(4):8-14. Epub 2016 Jul 3 doi: 10.21010/ajtcam.v13i4.2. PMID: 28852714Free PMC Article
Hochberg I, Hochberg Z
Obes Rev 2010 Oct;11(10):709-21. doi: 10.1111/j.1467-789X.2010.00727.x. PMID: 20233310
Afzal KI, Briones DF, DeVargas C
CNS Spectr 2007 Nov;12(11):818-20. doi: 10.1017/s1092852900015558. PMID: 17984854
Villadsen AB, Pedersen EB
Acta Paediatr Scand 1987 Jan;76(1):179-83. doi: 10.1111/j.1651-2227.1987.tb10444.x. PMID: 3471044

Prognosis

Rydzewska M, Krawczuk-Rybak M, Zajkowska A, Jurczuk N, Polnik D, Szalecki M, Moszczyńska E, Savage MO, Bossowski A
J Pediatr Endocrinol Metab 2017 Apr 1;30(4):475-478. doi: 10.1515/jpem-2016-0339. PMID: 28328532
Lee MH, Cho U, Lee JW, Cho WK, Jung MH, Chung NG, Cho B, Choi YJ, Lee MD, Suh BK
J Pediatr Endocrinol Metab 2014 Nov;27(11-12):1033-6. doi: 10.1515/jpem-2014-0006. PMID: 25153573
Yourshaw M, Solorzano-Vargas RS, Pickett LA, Lindberg I, Wang J, Cortina G, Pawlikowska-Haddal A, Baron H, Venick RS, Nelson SF, Martín MG
J Pediatr Gastroenterol Nutr 2013 Dec;57(6):759-67. doi: 10.1097/MPG.0b013e3182a8ae6c. PMID: 24280991Free PMC Article
Dapri G, Cadière GB, Himpens J
J Laparoendosc Adv Surg Tech A 2011 Jan-Feb;21(1):19-23. Epub 2010 Dec 7 doi: 10.1089/lap.2010.0298. PMID: 21138345
Shera AS, Miyan Z, Basit A, Maqsood A, Ahmadani MY, Fawwad A, Riaz M
Pediatr Diabetes 2008 Aug;9(4 Pt 2):401-6. doi: 10.1111/j.1399-5448.2007.00309.x. PMID: 18221426

Clinical prediction guides

Packer RM, De Risio L, Volk HA
BMC Vet Res 2017 Apr 7;13(1):90. doi: 10.1186/s12917-017-1000-0. PMID: 28388948Free PMC Article
Teti C, Castelletti L, Allegretti L, Talco M, Zona G, Minuto F, Boschetti M, Ferone D
Pituitary 2015 Oct;18(5):592-7. doi: 10.1007/s11102-014-0612-7. PMID: 25311104
Zoli M, Mazzatenta D, Valluzzi A, Marucci G, Acciarri N, Pasquini E, Frank G
Neurosurg Focus 2014;37(4):E11. doi: 10.3171/2014.7.FOCUS14317. PMID: 25270130
Sherafat-Kazemzadeh R, Ivey L, Kahn SR, Sapp JC, Hicks MD, Kim RC, Krause AJ, Shomaker LB, Biesecker LG, Han JC, Yanovski JA
Pediatr Obes 2013 Oct;8(5):e64-7. Epub 2013 Jun 18 doi: 10.1111/j.2047-6310.2013.00182.x. PMID: 23776152Free PMC Article
Abdel-Aleem A, Zaki MS
J Neurol 2008 Mar;255(3):413-9. Epub 2008 Feb 26 doi: 10.1007/s00415-008-0690-4. PMID: 18297329

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