U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Generalized edema

MedGen UID:
376817
Concept ID:
C1850534
Pathologic Function
Synonym: Generalized tissue edema
SNOMED CT: Generalized edema (271808008)
 
HPO: HP:0007430

Definition

Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized edema

Conditions with this feature

Protein-losing enteropathy
MedGen UID:
19522
Concept ID:
C0033680
Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).
Johanson-Blizzard syndrome
MedGen UID:
59798
Concept ID:
C0175692
Disease or Syndrome
Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).
MOGS-congenital disorder of glycosylation
MedGen UID:
342954
Concept ID:
C1853736
Disease or Syndrome
A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
MedGen UID:
349241
Concept ID:
C1859753
Disease or Syndrome
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
Familial hemophagocytic lymphohistiocytosis 2
MedGen UID:
400366
Concept ID:
C1863727
Disease or Syndrome
Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; 147570) and TNF-alpha (191160), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see 267700.
Nephrotic syndrome, type 8
MedGen UID:
815283
Concept ID:
C3808953
Disease or Syndrome
Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.
Lymphatic malformation 6
MedGen UID:
908120
Concept ID:
C4225184
Disease or Syndrome
Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Structural heart defects and renal anomalies syndrome
MedGen UID:
1387412
Concept ID:
C4479549
Disease or Syndrome
Neu-Laxova syndrome 1
MedGen UID:
1633287
Concept ID:
C4551478
Disease or Syndrome
Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.
Familial hemophagocytic lymphohistiocytosis type 1
MedGen UID:
1642840
Concept ID:
C4551514
Disease or Syndrome
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.
Fetal akinesia deformation sequence 3
MedGen UID:
1680087
Concept ID:
C4760599
Disease or Syndrome
The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150.
Lymphatic malformation 8
MedGen UID:
1684767
Concept ID:
C5231496
Disease or Syndrome
Lymphatic malformation-8 (LMPHM8) is an autosomal recessive disorder in which affected fetuses die in utero due to nonimmune hydrops fetalis (NIHF). The fetus and placenta are edematous with interstitial accumulation of fluid and abnormally shaped vessels. The disorder results from impaired lymphangiogenesis. Carrier females have reduced fertility and recurrent miscarriages likely due to NIHF (summary by Mackie et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).
Nephrotic syndrome, type 22
MedGen UID:
1745920
Concept ID:
C5436909
Disease or Syndrome
Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant (Majmundar et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
MedGen UID:
1778116
Concept ID:
C5542316
Disease or Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disorder affecting the muscles that line the bladder and intestines. It is characterized by impairment of the muscle contractions that move food through the digestive tract (peristalsis) and empty the bladder.\n\nSome of the major features of MMIHS can be recognized before birth using ultrasound imaging. Affected fetuses have an enlarged bladder (megacystis) because it does not empty. In addition, the large intestine (colon) is abnormally narrow (microcolon) because of a shortage of functional muscle lining it. Intestinal and bladder problems persist throughout life.\n\nAfter birth, the continued impairment of peristalsis (hypoperistalsis) often causes a digestive condition called intestinal pseudo-obstruction. This condition, which mimics a physical blockage (obstruction) of the intestines but without an actual blockage, leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, and vomiting. The vomit usually contains a green or yellow digestive fluid called bile. Because digestion is impeded and the body does not get the nutrients from food, nutritional support is usually needed, which is given through intravenous feedings (parenteral nutrition). While some affected individuals rely solely on intravenous feedings, others require it only on occasion. Long-term use of parenteral nutrition can lead to liver problems.\n\nThe reduced ability to pass urine also contributes to painful distention of the abdomen. Many people with MMIHS require placement of a tube (urinary catheter) to remove urine from the bladder.\n\nAnother abnormality in some people with MMIHS is intestinal malrotation, in which the intestines do not fold properly. Instead, they twist abnormally, often causing a blockage. Individuals with MMIHS can also develop problems with the kidneys or the ureters, which are the ducts that carry urine from the kidneys to the bladder.\n\nThe life expectancy of people with MMIHS is shorter than normal, often due to malnutrition, overwhelming infection (sepsis), or the failure of multiple organs.
Biliary, renal, neurologic, and skeletal syndrome
MedGen UID:
1794200
Concept ID:
C5561990
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).

Professional guidelines

PubMed

Hedin E, Bijelić V, Barrowman N, Geier P
Pediatr Nephrol 2022 Aug;37(8):1747-1757. Epub 2022 Mar 3 doi: 10.1007/s00467-021-05358-4. PMID: 35239032
Teles Abrao Trad A, Czeresnia R, Elrefaei A, Ibirogba ER, Narang K, Ruano R
J Matern Fetal Neonatal Med 2022 Oct;35(20):4022-4027. Epub 2021 Mar 15 doi: 10.1080/14767058.2020.1844656. PMID: 33722118
Miller KC, Musial L, Whitworth A, Chanan-Khan A
Clin J Oncol Nurs 2010 Aug;14(4):491-9. doi: 10.1188/10.CJON.491-499. PMID: 20682505

Recent clinical studies

Etiology

Chang KJ, Seow KM, Chen KH
Int J Environ Res Public Health 2023 Feb 8;20(4) doi: 10.3390/ijerph20042994. PMID: 36833689Free PMC Article
Krečak I, Babić G, Skelin M
Acta Dermatovenerol Croat 2022 Jul;30(1):59-60. PMID: 36153722
Hedin E, Bijelić V, Barrowman N, Geier P
Pediatr Nephrol 2022 Aug;37(8):1747-1757. Epub 2022 Mar 3 doi: 10.1007/s00467-021-05358-4. PMID: 35239032
Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185
Gandhi M, Nagashree S, Murthy V, Hegde R, Viswanath D
Indian J Pediatr 2001 Jul;68(7):685-6. doi: 10.1007/BF02752288. PMID: 11519296

Diagnosis

Mudhol RR, Bhise R
J Assoc Physicians India 2022 Oct;70(10):11-12. doi: 10.5005/japi-11001-0106. PMID: 37355874
Krečak I, Babić G, Skelin M
Acta Dermatovenerol Croat 2022 Jul;30(1):59-60. PMID: 36153722
Prukngampun N, Chartapisak W, Hongsawong N, Suwansirikul S, Sontichai W
Pediatr Nephrol 2022 Jun;37(6):1321-1323. Epub 2022 Jan 27 doi: 10.1007/s00467-021-05408-x. PMID: 35084564
Gandhi M, Nagashree S, Murthy V, Hegde R, Viswanath D
Indian J Pediatr 2001 Jul;68(7):685-6. doi: 10.1007/BF02752288. PMID: 11519296
Hisano S, Hahn S, Kuemmerle NB, Chan JC, DeSanto NG
Kidney Int Suppl 1997 Jun;59:S100-4. PMID: 9185114

Therapy

Mudhol RR, Bhise R
J Assoc Physicians India 2022 Oct;70(10):11-12. doi: 10.5005/japi-11001-0106. PMID: 37355874
Krečak I, Babić G, Skelin M
Acta Dermatovenerol Croat 2022 Jul;30(1):59-60. PMID: 36153722
Hedin E, Bijelić V, Barrowman N, Geier P
Pediatr Nephrol 2022 Aug;37(8):1747-1757. Epub 2022 Mar 3 doi: 10.1007/s00467-021-05358-4. PMID: 35239032
Shetty R, Basheer FT, Poojari PG, Thunga G, Chandran VP, Acharya LD
Diabetes Metab Syndr 2022 Mar;16(3):102427. Epub 2022 Feb 12 doi: 10.1016/j.dsx.2022.102427. PMID: 35217468
Gandhi M, Nagashree S, Murthy V, Hegde R, Viswanath D
Indian J Pediatr 2001 Jul;68(7):685-6. doi: 10.1007/BF02752288. PMID: 11519296

Prognosis

Chang KJ, Seow KM, Chen KH
Int J Environ Res Public Health 2023 Feb 8;20(4) doi: 10.3390/ijerph20042994. PMID: 36833689Free PMC Article
Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185
Gandhi M, Nagashree S, Murthy V, Hegde R, Viswanath D
Indian J Pediatr 2001 Jul;68(7):685-6. doi: 10.1007/BF02752288. PMID: 11519296
Cunningham FG, Twickler D
Am J Obstet Gynecol 2000 Jan;182(1 Pt 1):94-100. doi: 10.1016/s0002-9378(00)70496-0. PMID: 10649162
Bullard KM, Harrison MR
Semin Perinatol 1995 Dec;19(6):462-73. doi: 10.1016/s0146-0005(05)80053-9. PMID: 8822330

Clinical prediction guides

Chang KJ, Seow KM, Chen KH
Int J Environ Res Public Health 2023 Feb 8;20(4) doi: 10.3390/ijerph20042994. PMID: 36833689Free PMC Article
Shetty R, Basheer FT, Poojari PG, Thunga G, Chandran VP, Acharya LD
Diabetes Metab Syndr 2022 Mar;16(3):102427. Epub 2022 Feb 12 doi: 10.1016/j.dsx.2022.102427. PMID: 35217468
Han KH, Lee KH, Park SJ, Yu R, Kim SH, Lee IR, Han SY, Kim HS, Kronbichler A, Li H, Koyanagi A, Jacob L, Shin JI, Kim JH, Smith L
Eur Rev Med Pharmacol Sci 2021 Sep;25(18):5674-5683. doi: 10.26355/eurrev_202109_26786. PMID: 34604959
Aihole JS, Vishnumurthy GS, Babu MN
Indian Pediatr 2016 Nov 15;53(11):1017-1018. doi: 10.1007/s13312-016-0980-3. PMID: 27889734
Moien-Afshari F, Skarsgard PL, McManus BM, Laher I
Can J Physiol Pharmacol 2004 Oct;82(10):840-8. doi: 10.1139/y04-100. PMID: 15573144

Recent systematic reviews

Comerci AJ, Arellano JA, Alessandri-Bonetti M, Mocharnuk JW, Marangi GF, Persichetti P, Rubin JP, Egro FM
Aesthet Surg J 2024 Jun 14;44(7):NP454-NP463. doi: 10.1093/asj/sjae074. PMID: 38563572
Hedin E, Bijelić V, Barrowman N, Geier P
Pediatr Nephrol 2022 Aug;37(8):1747-1757. Epub 2022 Mar 3 doi: 10.1007/s00467-021-05358-4. PMID: 35239032
Shetty R, Basheer FT, Poojari PG, Thunga G, Chandran VP, Acharya LD
Diabetes Metab Syndr 2022 Mar;16(3):102427. Epub 2022 Feb 12 doi: 10.1016/j.dsx.2022.102427. PMID: 35217468
Edgar DW, Fish JS, Gomez M, Wood FM
J Burn Care Res 2011 Mar-Apr;32(2):334-47. doi: 10.1097/BCR.0b013e31820ab019. PMID: 21252688
Dhir V, Arya V, Malav IC, Suryanarayanan BS, Gupta R, Dey AB
Intern Med 2007;46(12):899-904. Epub 2007 Jun 15 doi: 10.2169/internalmedicine.46.6129. PMID: 17575386

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...