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Ascites

MedGen UID:
416
Concept ID:
C0003962
Finding; Finding
Synonyms: Ascites ICD10CM:R18 ICD9CM:789.5
SNOMED CT: Ascites (389026000); Peritoneal dropsy (389026000); Abdominal dropsy (389026000); Hydrops abdominis (389026000); Hydroperitonia (389026000); Hydroperitoneum (389026000)
 
HPO: HP:0001541

Definition

Accumulation of fluid in the peritoneal cavity. [from HPO]

Conditions with this feature

Glycogen storage disease, type IV
MedGen UID:
6642
Concept ID:
C0017923
Disease or Syndrome
The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The fatal perinatal neuromuscular subtype presents in utero with fetal akinesia deformation sequence (FADS) with decreased fetal movements, polyhydramnios, and fetal hydrops. Death usually occurs in the neonatal period. The congenital neuromuscular subtype presents in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy. Death usually occurs in early infancy. Infants with the classic (progressive) hepatic subtype may appear normal at birth, but rapidly develop failure to thrive; hepatomegaly, liver dysfunction, and progressive liver cirrhosis; hypotonia; and cardiomyopathy. Without liver transplantation, death from liver failure usually occurs by age five years. Children with the non-progressive hepatic subtype tend to present with hepatomegaly, liver dysfunction, myopathy, and hypotonia; however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade.
Enteropathy, protein-losing
MedGen UID:
19522
Concept ID:
C0033680
Disease or Syndrome
Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.
Ovarian hyperstimulation syndrome
MedGen UID:
38966
Concept ID:
C0085083
Disease or Syndrome
A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.
Congenital cystic disease of liver
MedGen UID:
56388
Concept ID:
C0158683
Congenital Abnormality
Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, 173900) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). Genetic Heterogeneity of Polycystic Liver Disease See also PCLD2 (617004), caused by mutation in the SEC63 gene (608648) on chromosome 6q21.
Sialidosis, type II
MedGen UID:
120621
Concept ID:
C0268226
Disease or Syndrome
Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (604369) is a form of 'free' sialic acid disease. Classification Lowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.
Dysmorphic sialidosis with renal involvement
MedGen UID:
82778
Concept ID:
C0268232
Congenital Abnormality
Tyrosinemia type I
MedGen UID:
75688
Concept ID:
C0268490
Disease or Syndrome
Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.
Splenoportal vascular anomaly
MedGen UID:
137945
Concept ID:
C0340826
Congenital Abnormality
Hemochromatosis type 1
MedGen UID:
140272
Concept ID:
C0392514
Disease or Syndrome
HFE-associated hereditary hemochromatosis (HFE-HH) is characterized by inappropriately high absorption of iron by the gastrointestinal mucosa. The phenotypic spectrum of HFE-HH is now recognized to include: Those with clinical HFE-HH, in which manifestations of end-organ damage secondary to iron storage are present; Those with biochemical HFE-HH, in which the only evidence of iron overload is increased transferrin-iron saturation and increased serum ferritin concentration; Non-expressing p.Cys282Tyr homozygotes, in whom neither clinical manifestations of HFE-HH nor iron overload is present. Clinical HFE-HH is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and testes. In untreated individuals, early symptoms may include: abdominal pain, weakness, lethargy, and weight loss; the risk of cirrhosis is significantly increased when the serum ferritin is higher than 1,000 ng/mL; other findings may include progressive increase in skin pigmentation, diabetes mellitus, congestive heart failure, and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE-HH is more common in men than women.
Type IV short rib polydactyly syndrome
MedGen UID:
96578
Concept ID:
C0432198
Congenital Abnormality
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Renal hamartomas nephroblastomatosis and fetal gigantism
MedGen UID:
162909
Concept ID:
C0796113
Disease or Syndrome
Perlman syndrome is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).
Sialic acid storage disease, severe infantile type
MedGen UID:
203367
Concept ID:
C1096902
Disease or Syndrome
The allelic disorders of free sialic acid metabolism — Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD) — are neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. The mildest phenotype is Salla disease, which is characterized by normal appearance and neurologic findings at birth followed by slowly progressive neurologic deterioration resulting in mild to moderate psychomotor retardation, spasticity, athetosis, and epileptic seizures. The most severe phenotype is ISSD, characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood.
Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities
MedGen UID:
333019
Concept ID:
C1838120
Disease or Syndrome
Gaucher disease, perinatal lethal
MedGen UID:
374996
Concept ID:
C1842704
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
Glycogen storage disease of heart, lethal congenital
MedGen UID:
337919
Concept ID:
C1849813
Disease or Syndrome
Hypervitaminosis A
MedGen UID:
343435
Concept ID:
C1855883
Finding
Urioste Martinez-Frias syndrome
MedGen UID:
343489
Concept ID:
C1856159
Disease or Syndrome
Acrocephalopolydactylous dysplasia
MedGen UID:
348553
Concept ID:
C1860157
Disease or Syndrome
Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).
Gracile bone dysplasia
MedGen UID:
356331
Concept ID:
C1865639
Disease or Syndrome
Gracile bone dysplasia is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia (summary by Unger et al., 2013).
XFE progeroid syndrome
MedGen UID:
410064
Concept ID:
C1970416
Disease or Syndrome
Combined oxidative phosphorylation deficiency 5
MedGen UID:
435972
Concept ID:
C2673642
Disease or Syndrome
Mitochondrial DNA-depletion syndrome 3, hepatocerebral
MedGen UID:
462863
Concept ID:
C3151513
Disease or Syndrome
The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated transaminases) and neurologic manifestations (hypotonia, nystagmus, and psychomotor retardation) evident within weeks of birth. Those with isolated liver disease may also have renal involvement and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms.
Lymphoproliferative syndrome 2
MedGen UID:
767454
Concept ID:
C3554540
Disease or Syndrome
Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).

Recent clinical studies

Etiology

Kong TW, Chang SJ, Kim J, Paek J, Kim SH, Won JH, Ryu HS
J Gynecol Oncol 2016 Jul;27(4):e44. doi: 10.3802/jgo.2016.27.e44. PMID: 27171674Free PMC Article
Jung M, Pützer S, Gevensleben H, Meller S, Kristiansen G, Dietrich D
Clin Epigenetics 2016 Mar 1;8:24. doi: 10.1186/s13148-016-0192-7. PMID: 26937257Free PMC Article
Keil-Ríos D, Terrazas-Solís H, González-Garay A, Sánchez-Ávila JF, García-Juárez I
Intern Emerg Med 2016 Apr;11(3):461-6. Epub 2016 Feb 19 doi: 10.1007/s11739-016-1406-x. PMID: 26895032
Kahraman AS, Kahraman B, Ozdemir ZM, Gormeli CA, Ozdemir F, Dogan M
Abdom Radiol (NY) 2016 Jan;41(1):56-62. doi: 10.1007/s00261-015-0613-7. PMID: 26830612
Solà E, Solé C, Ginès P
Liver Int 2016 Jan;36 Suppl 1:109-15. doi: 10.1111/liv.13015. PMID: 26725907

Diagnosis

Kim S, Kim B, Song YS
Cancer Sci 2016 Sep;107(9):1173-8. Epub 2016 Aug 16 doi: 10.1111/cas.12987. PMID: 27297561Free PMC Article
Jung M, Pützer S, Gevensleben H, Meller S, Kristiansen G, Dietrich D
Clin Epigenetics 2016 Mar 1;8:24. doi: 10.1186/s13148-016-0192-7. PMID: 26937257Free PMC Article
Keil-Ríos D, Terrazas-Solís H, González-Garay A, Sánchez-Ávila JF, García-Juárez I
Intern Emerg Med 2016 Apr;11(3):461-6. Epub 2016 Feb 19 doi: 10.1007/s11739-016-1406-x. PMID: 26895032
Zhan N, Dong WG, Wang J
Tumour Biol 2016 Mar;37(3):3719-25. Epub 2015 Oct 13 doi: 10.1007/s13277-015-4198-0. PMID: 26462841
Fukui H
World J Gastroenterol 2015 Nov 7;21(41):11584-96. doi: 10.3748/wjg.v21.i41.11584. PMID: 26556988Free PMC Article

Therapy

Atisha-Fregoso Y, Hernández-Ramírez DF, Olivares-Martínez E, Núñez-Alvarez CA, Llorente L, Hernández-Molina G
Clin Rheumatol 2017 Mar;36(3):707-711. Epub 2016 Nov 9 doi: 10.1007/s10067-016-3473-9. PMID: 27830342
Kong TW, Chang SJ, Kim J, Paek J, Kim SH, Won JH, Ryu HS
J Gynecol Oncol 2016 Jul;27(4):e44. doi: 10.3802/jgo.2016.27.e44. PMID: 27171674Free PMC Article
Shinoto M, Nakamura K, Shioyama Y, Sasaki T, Nishie A, Asayama Y, Ohga S, Yoshitake T, Terashima K, Asai K, Matsumoto K, Honda H
Anticancer Res 2016 Apr;36(4):1879-84. PMID: 27069174
Baintner K
Acta Microbiol Immunol Hung 2016 Mar;63(1):131-7. doi: 10.1556/030.63.2016.1.10. PMID: 27020875
Qu C, Xing M, Ghodadra A, McCluskey KM, Santos E, Kim HS
Cardiovasc Intervent Radiol 2016 May;39(5):711-6. Epub 2015 Dec 11 doi: 10.1007/s00270-015-1258-1. PMID: 26662561

Prognosis

Kim S, Kim B, Song YS
Cancer Sci 2016 Sep;107(9):1173-8. Epub 2016 Aug 16 doi: 10.1111/cas.12987. PMID: 27297561Free PMC Article
Kong TW, Chang SJ, Kim J, Paek J, Kim SH, Won JH, Ryu HS
J Gynecol Oncol 2016 Jul;27(4):e44. doi: 10.3802/jgo.2016.27.e44. PMID: 27171674Free PMC Article
Shinoto M, Nakamura K, Shioyama Y, Sasaki T, Nishie A, Asayama Y, Ohga S, Yoshitake T, Terashima K, Asai K, Matsumoto K, Honda H
Anticancer Res 2016 Apr;36(4):1879-84. PMID: 27069174
Jung M, Pützer S, Gevensleben H, Meller S, Kristiansen G, Dietrich D
Clin Epigenetics 2016 Mar 1;8:24. doi: 10.1186/s13148-016-0192-7. PMID: 26937257Free PMC Article
Zhan N, Dong WG, Wang J
Tumour Biol 2016 Mar;37(3):3719-25. Epub 2015 Oct 13 doi: 10.1007/s13277-015-4198-0. PMID: 26462841

Clinical prediction guides

Atisha-Fregoso Y, Hernández-Ramírez DF, Olivares-Martínez E, Núñez-Alvarez CA, Llorente L, Hernández-Molina G
Clin Rheumatol 2017 Mar;36(3):707-711. Epub 2016 Nov 9 doi: 10.1007/s10067-016-3473-9. PMID: 27830342
Shinoto M, Nakamura K, Shioyama Y, Sasaki T, Nishie A, Asayama Y, Ohga S, Yoshitake T, Terashima K, Asai K, Matsumoto K, Honda H
Anticancer Res 2016 Apr;36(4):1879-84. PMID: 27069174
Kahraman AS, Kahraman B, Ozdemir ZM, Gormeli CA, Ozdemir F, Dogan M
Abdom Radiol (NY) 2016 Jan;41(1):56-62. doi: 10.1007/s00261-015-0613-7. PMID: 26830612
Knudsen AW, Krag A, Nordgaard-Lassen I, Frandsen E, Tofteng F, Mortensen C, Becker U
Scand J Gastroenterol 2016;51(5):601-9. Epub 2015 Dec 16 doi: 10.3109/00365521.2015.1124282. PMID: 26673350
Kurbacher CM, Horn O, Kurbacher JA, Herz S, Kurbacher AT, Hildenbrand R, Bollmann R
Oncologist 2015 Nov;20(11):1333-41. Epub 2015 Sep 28 doi: 10.1634/theoncologist.2015-0076. PMID: 26417039Free PMC Article

Recent systematic reviews

Walbaum B, Valda ML, Rada G
Syst Rev 2016 May 10;5:78. doi: 10.1186/s13643-016-0250-4. PMID: 27160239Free PMC Article
Pericleous M, Sarnowski A, Moore A, Fijten R, Zaman M
Eur J Gastroenterol Hepatol 2016 Mar;28(3):e10-8. doi: 10.1097/MEG.0000000000000548. PMID: 26671516
Yan L, Xie F, Lu J, Ni Q, Shi C, Tang C, Yang J
BMC Gastroenterol 2015 Jun 9;15:65. doi: 10.1186/s12876-015-0297-z. PMID: 26054761Free PMC Article
Kimer N, Feineis M, Møller S, Bendtsen F
Scand J Gastroenterol 2015 Feb;50(2):129-37. Epub 2014 Aug 12 doi: 10.3109/00365521.2014.948053. PMID: 25113796
Bai M, Qi XS, Yang ZP, Yang M, Fan DM, Han GH
World J Gastroenterol 2014 Mar 14;20(10):2704-14. doi: 10.3748/wjg.v20.i10.2704. PMID: 24627607Free PMC Article

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