Display Settings:

Format

Send to:

Choose Destination

Fatigue

MedGen UID:
776580
Concept ID:
C2364051
Finding
 
HPO: HP:0012378

Conditions with this feature

Lipomatosis dolorosa
MedGen UID:
1757
Concept ID:
C0001529
Disease or Syndrome
Adiposis dolorosa, also known as Dercum disease, is characterized by generalized obesity and pronounced, disabling, and chronic pain in the adipose tissue of the proximal extremities, trunk, pelvic area, and buttocks; the face and hands are usually spared. There are a number of associated symptoms, including multiple lipomas, generalized weakness, fatigue, sleep disturbances, constipation, and psychiatric abnormalities. It is 5 to 30 times more common in women than men, and usually presents between 35 and 50 years of age (summary by Campen et al., 2001; review by Hansson et al., 2012). Based on a review of the literature and studies of 111 patients, Hansson et al, (2012) proposed a classification of Dercum disease into 4 types: (I) generalized diffuse form without clear lipomas, (II) generalized nodular form with multiple lipomas, (III) localized nodular form, and (IV) juxtaarticular form with solitary fatty deposits near joints.
Myxedema
MedGen UID:
6506
Concept ID:
C0027145
Disease or Syndrome
A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips.
Familial hypokalemic alkalosis, Gullner type
MedGen UID:
78677
Concept ID:
C0268444
Disease or Syndrome
3-Methylglutaconic aciduria type 2
MedGen UID:
107893
Concept ID:
C0574083
Disease or Syndrome
Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with endocardial fibroelastosis (EFE), a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Features of the disease that are less well known include hypertrophic cardiomyopathy, isolated left ventricular noncompaction (LVNC), ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood (summary by Steward et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950).
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
MedGen UID:
373087
Concept ID:
C1836439
Disease or Syndrome
Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002).
Erythrocytosis, familial, 2
MedGen UID:
332974
Concept ID:
C1837915
Disease or Syndrome
Familial erythrocytosis-2 is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors are also hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005).
Pulmonary hypertension, primary, autosomal recessive
MedGen UID:
340354
Concept ID:
C1849552
Disease or Syndrome
Familial erythrocytosis, 1
MedGen UID:
343583
Concept ID:
C1851490
Disease or Syndrome
Familial erythrocytosis-1 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998). Genetic Heterogeneity of Familial Erythrocytosis See also ECYT2 (263400), caused by mutation in the VHL gene (608537) on chromosome 3p25; ECYT3 (609820), caused by mutation in the EGLN1 gene (606425) on chromosome 1q42; and ECYT4 (611783), caused by mutation in the EPAS1 gene (603349) on chromosome 2p. Erythrocytosis may also be caused by somatic mutation in the JAK2 (147796) or the SH2B3 (605093) gene on chromosome 9p24 and 12q24, respectively. For a review of the genetics of congenital erythrocytosis, see Bento et al. (2014).
Cataract and cardiomyopathy
MedGen UID:
395228
Concept ID:
C1859317
Disease or Syndrome
Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012).
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
MedGen UID:
461767
Concept ID:
C3150417
Disease or Syndrome
MDDGC3 is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).
Congenital disorder of glycosylation type 1t
MedGen UID:
766970
Concept ID:
C3554056
Disease or Syndrome
Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014). For a discussion of the classification of CDGs, see CDG1A (212065).
Paroxysmal nocturnal hemoglobinuria 2
MedGen UID:
815699
Concept ID:
C3809369
Disease or Syndrome
Glucocorticoid resistance, generalized
MedGen UID:
798686
Concept ID:
CN205763
Disease or Syndrome
Generalized glucocorticoid resistance is an autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of clinical stigmata of Cushing syndrome. The clinical expression of the disease is variable. Common features include hypoglycemia, hypertension, and metabolic alkalosis. In females, overproduction of adrenal androgens has been associated with infertility, male-pattern baldness, hirsutism, and menstrual irregularities. Other features include chronic fatigue and profound anxiety (summary by Chrousos et al., 1983; Donner et al., 2013).

Recent clinical studies

Etiology

Fujii H, Fukuda S, Narumi D, Ihara T, Watanabe Y
Environ Res 2015 Apr;138:17-21. Epub 2015 Feb 13 doi: 10.1016/j.envres.2015.02.006. [Epub ahead of print] PMID: 25682254
Duncan F, Lewis SJ, Greig CA, Dennis MS, Sharpe M, MacLullich AM, Mead GE
Stroke 2015 Apr;46(4):1052-8. Epub 2015 Feb 12 doi: 10.1161/STROKEAHA.114.008079. [Epub ahead of print] PMID: 25677595
Wang XS, Woodruff JF
Gynecol Oncol 2015 Mar;136(3):446-52. Epub 2014 Oct 23 doi: 10.1016/j.ygyno.2014.10.013. [Epub ahead of print] PMID: 25458588Free PMC Article
Wormser GP, Weitzner E, McKenna D, Nadelman RB, Scavarda C, Nowakowski J
Am J Med 2015 Feb;128(2):181-4. Epub 2014 Oct 15 doi: 10.1016/j.amjmed.2014.09.022. [Epub ahead of print] PMID: 25447620
Runia TF, Jafari N, Siepman DA, Hintzen RQ
J Neurol Neurosurg Psychiatry 2015 May;86(5):543-6. Epub 2014 Jul 21 doi: 10.1136/jnnp-2014-308374. [Epub ahead of print] PMID: 25053770

Diagnosis

Crichton A, Knight S, Oakley E, Babl FE, Anderson V
Pediatrics 2015 Apr;135(4):e1015-31. Epub 2015 Mar 23 doi: 10.1542/peds.2014-2440. [Epub ahead of print] PMID: 25802352
Duncan F, Lewis SJ, Greig CA, Dennis MS, Sharpe M, MacLullich AM, Mead GE
Stroke 2015 Apr;46(4):1052-8. Epub 2015 Feb 12 doi: 10.1161/STROKEAHA.114.008079. [Epub ahead of print] PMID: 25677595
Wang XS, Woodruff JF
Gynecol Oncol 2015 Mar;136(3):446-52. Epub 2014 Oct 23 doi: 10.1016/j.ygyno.2014.10.013. [Epub ahead of print] PMID: 25458588Free PMC Article
Efficace F, Gaidano G, Breccia M, Criscuolo M, Cottone F, Caocci G, Bowen D, Lübbert M, Angelucci E, Stauder R, Selleslag D, Platzbecker U, Sanpaolo G, Jonasova A, Buccisano F, Specchia G, Palumbo GA, Niscola P, Wan C, Zhang H, Fenu S, Klimek V, Beyne-Rauzy O, Nguyen K, Mandelli F
Br J Haematol 2015 Feb;168(3):361-70. Epub 2014 Oct 1 doi: 10.1111/bjh.13138. [Epub ahead of print] PMID: 25272332
Runia TF, Jafari N, Siepman DA, Hintzen RQ
J Neurol Neurosurg Psychiatry 2015 May;86(5):543-6. Epub 2014 Jul 21 doi: 10.1136/jnnp-2014-308374. [Epub ahead of print] PMID: 25053770

Therapy

Favejee MM, van den Berg LE, Kruijshaar ME, Wens SC, Praet SF, Pim Pijnappel WW, van Doorn PA, Bussmann JB, van der Ploeg AT
Arch Phys Med Rehabil 2015 May;96(5):817-22. Epub 2014 Dec 11 doi: 10.1016/j.apmr.2014.11.020. [Epub ahead of print] PMID: 25499687
Wang XS, Woodruff JF
Gynecol Oncol 2015 Mar;136(3):446-52. Epub 2014 Oct 23 doi: 10.1016/j.ygyno.2014.10.013. [Epub ahead of print] PMID: 25458588Free PMC Article
Efficace F, Gaidano G, Breccia M, Criscuolo M, Cottone F, Caocci G, Bowen D, Lübbert M, Angelucci E, Stauder R, Selleslag D, Platzbecker U, Sanpaolo G, Jonasova A, Buccisano F, Specchia G, Palumbo GA, Niscola P, Wan C, Zhang H, Fenu S, Klimek V, Beyne-Rauzy O, Nguyen K, Mandelli F
Br J Haematol 2015 Feb;168(3):361-70. Epub 2014 Oct 1 doi: 10.1111/bjh.13138. [Epub ahead of print] PMID: 25272332
Santoni M, Conti A, Massari F, Arnaldi G, Iacovelli R, Rizzo M, De Giorgi U, Trementino L, Procopio G, Tortora G, Cascinu S
Int J Cancer 2015 Jan 1;136(1):1-10. Epub 2014 Feb 7 doi: 10.1002/ijc.28715. [Epub ahead of print] PMID: 24415642
Mao JJ, Farrar JT, Bruner D, Zee J, Bowman M, Seluzicki C, DeMichele A, Xie SX
Cancer 2014 Dec 1;120(23):3744-51. Epub 2014 Jul 30 doi: 10.1002/cncr.28917. [Epub ahead of print] PMID: 25077452Free PMC Article

Prognosis

Duncan F, Lewis SJ, Greig CA, Dennis MS, Sharpe M, MacLullich AM, Mead GE
Stroke 2015 Apr;46(4):1052-8. Epub 2015 Feb 12 doi: 10.1161/STROKEAHA.114.008079. [Epub ahead of print] PMID: 25677595
Zalai D, Sherman M, McShane K, Shapiro CM, Carney CE
J Psychosom Res 2015 Feb;78(2):193-8. Epub 2014 Nov 18 doi: 10.1016/j.jpsychores.2014.11.011. [Epub ahead of print] PMID: 25433976
Richardson CA, Glynn NW, Ferrucci LG, Mackey DC
J Gerontol A Biol Sci Med Sci 2015 Apr;70(4):487-94. Epub 2014 Sep 4 doi: 10.1093/gerona/glu146. [Epub ahead of print] PMID: 25190069Free PMC Article
Runia TF, Jafari N, Siepman DA, Hintzen RQ
J Neurol Neurosurg Psychiatry 2015 May;86(5):543-6. Epub 2014 Jul 21 doi: 10.1136/jnnp-2014-308374. [Epub ahead of print] PMID: 25053770
Santoni M, Conti A, Massari F, Arnaldi G, Iacovelli R, Rizzo M, De Giorgi U, Trementino L, Procopio G, Tortora G, Cascinu S
Int J Cancer 2015 Jan 1;136(1):1-10. Epub 2014 Feb 7 doi: 10.1002/ijc.28715. [Epub ahead of print] PMID: 24415642

Clinical prediction guides

Fujii H, Fukuda S, Narumi D, Ihara T, Watanabe Y
Environ Res 2015 Apr;138:17-21. Epub 2015 Feb 13 doi: 10.1016/j.envres.2015.02.006. [Epub ahead of print] PMID: 25682254
Duncan F, Lewis SJ, Greig CA, Dennis MS, Sharpe M, MacLullich AM, Mead GE
Stroke 2015 Apr;46(4):1052-8. Epub 2015 Feb 12 doi: 10.1161/STROKEAHA.114.008079. [Epub ahead of print] PMID: 25677595
Wormser GP, Weitzner E, McKenna D, Nadelman RB, Scavarda C, Nowakowski J
Am J Med 2015 Feb;128(2):181-4. Epub 2014 Oct 15 doi: 10.1016/j.amjmed.2014.09.022. [Epub ahead of print] PMID: 25447620
Zalai D, Sherman M, McShane K, Shapiro CM, Carney CE
J Psychosom Res 2015 Feb;78(2):193-8. Epub 2014 Nov 18 doi: 10.1016/j.jpsychores.2014.11.011. [Epub ahead of print] PMID: 25433976
Runia TF, Jafari N, Siepman DA, Hintzen RQ
J Neurol Neurosurg Psychiatry 2015 May;86(5):543-6. Epub 2014 Jul 21 doi: 10.1136/jnnp-2014-308374. [Epub ahead of print] PMID: 25053770

Recent systematic reviews

Crichton A, Knight S, Oakley E, Babl FE, Anderson V
Pediatrics 2015 Apr;135(4):e1015-31. Epub 2015 Mar 23 doi: 10.1542/peds.2014-2440. [Epub ahead of print] PMID: 25802352
Peng L, Zhou Y, Ye X, Zhao Q
Tumour Biol 2015 Feb;36(2):643-54. Epub 2014 Oct 4 doi: 10.1007/s13277-014-2669-3. [Epub ahead of print] PMID: 25281033
Donovan KA, Stein KD, Lee M, Leach CR, Ilozumba O, Jacobsen PB
Support Care Cancer 2015 Jan;23(1):191-212. Epub 2014 Aug 22 doi: 10.1007/s00520-014-2389-7. [Epub ahead of print] PMID: 25142703
Santoni M, Conti A, Massari F, Arnaldi G, Iacovelli R, Rizzo M, De Giorgi U, Trementino L, Procopio G, Tortora G, Cascinu S
Int J Cancer 2015 Jan 1;136(1):1-10. Epub 2014 Feb 7 doi: 10.1002/ijc.28715. [Epub ahead of print] PMID: 24415642
Ferguson M, Dennehy EB, Marangell LB, Martinez J, Wisniewski SR
Curr Med Res Opin 2014 Oct;30(10):2109-18. Epub 2014 Jul 4 doi: 10.1185/03007995.2014.936553. [Epub ahead of print] PMID: 24949937

Supplemental Content

Table of contents

    Consumer resources

    Outreach and support

    Clinical Trials

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...