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Pancreatic fibrosis

MedGen UID:
120607
Concept ID:
C0267952
Disease or Syndrome
Synonyms: Cirrhosis of pancreas; Fibrosis of pancreas
SNOMED CT: Fibrosis of pancreas (25942009); Cirrhosis of pancreas (25942009)
 
HPO: HP:0100732

Term Hierarchy

Conditions with this feature

Short rib-polydactyly syndrome, Majewski type
MedGen UID:
44252
Concept ID:
C0024507
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).
Jeune thoracic dystrophy
MedGen UID:
78548
Concept ID:
C0265275
Congenital Abnormality
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition may develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.
Pearson marrow-pancreas syndrome
MedGen UID:
90997
Concept ID:
C0342773
Disease or Syndrome
Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex (i.e., a single occurrence in a family), but rarely may be observed in different members of the same family or may evolve in a given individual over time. The three phenotypes are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). Rarely Leigh syndrome can be a manifestation of a mtDNA deletion. KSS is a multisystem disorder defined by the triad of onset before age 20 years, pigmentary retinopathy, and PEO. In addition, affected individuals have at least one of the following: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia. Onset is usually in childhood. Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction and is usually fatal in infancy. PEO, characterized by ptosis, paralysis of the extraocular muscles (ophthalmoplegia), oropharyngeal weakness, and variably severe proximal limb weakness, is relatively benign.
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).
Renal-hepatic-pancreatic dysplasia
MedGen UID:
382215
Concept ID:
C2673883
Disease or Syndrome
Short-rib thoracic dysplasia 8 with or without polydactyly
MedGen UID:
816021
Concept ID:
C3809691
Disease or Syndrome
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).
Infantile multisystem neurologic-endocrine-pancreatic disease
MedGen UID:
864165
Concept ID:
C4015728
Disease or Syndrome

Recent clinical studies

Etiology

Noda Y, Goshima S, Tanaka K, Osada S, Tomita H, Hara A, Horikawa Y, Takeda J, Kajita K, Watanabe H, Kawada H, Kawai N, Kanematsu M, Bae KT
J Magn Reson Imaging 2016 Mar;43(3):680-7. Epub 2015 Jul 22 doi: 10.1002/jmri.25019. PMID: 26201823
Kiyochi H, Matsukage S, Nakamura T, Ishida N, Takada Y, Kajiwara S
World J Surg 2015 Dec;39(12):2967-74. doi: 10.1007/s00268-015-3211-5. PMID: 26304612
Tanaka K, Tomita H, Osada S, Watanabe H, Imai H, Sasaki Y, Goshima S, Kondo H, Kanematsu M, Hara A, Yoshida K
Anticancer Res 2015 Mar;35(3):1749-56. PMID: 25750338
Itoh Y, Itoh A, Kawashima H, Ohno E, Nakamura Y, Hiramatsu T, Sugimoto H, Sumi H, Hayashi D, Kuwahara T, Morishima T, Funasaka K, Nakamura M, Miyahara R, Ohmiya N, Katano Y, Ishigami M, Goto H, Hirooka Y
J Gastroenterol 2014 Jul;49(7):1183-92. Epub 2013 Sep 12 doi: 10.1007/s00535-013-0880-4. PMID: 24026103
Hashimoto Y, Sclabas GM, Takahashi N, Kirihara Y, Smyrk TC, Huebner M, Farnell MB
J Gastrointest Surg 2011 Dec;15(12):2193-204. Epub 2011 Sep 27 doi: 10.1007/s11605-011-1687-3. PMID: 21948179

Diagnosis

Noda Y, Goshima S, Tanaka K, Osada S, Tomita H, Hara A, Horikawa Y, Takeda J, Kajita K, Watanabe H, Kawada H, Kawai N, Kanematsu M, Bae KT
J Magn Reson Imaging 2016 Mar;43(3):680-7. Epub 2015 Jul 22 doi: 10.1002/jmri.25019. PMID: 26201823
Kiyochi H, Matsukage S, Nakamura T, Ishida N, Takada Y, Kajiwara S
World J Surg 2015 Dec;39(12):2967-74. doi: 10.1007/s00268-015-3211-5. PMID: 26304612
Itoh Y, Itoh A, Kawashima H, Ohno E, Nakamura Y, Hiramatsu T, Sugimoto H, Sumi H, Hayashi D, Kuwahara T, Morishima T, Funasaka K, Nakamura M, Miyahara R, Ohmiya N, Katano Y, Ishigami M, Goto H, Hirooka Y
J Gastroenterol 2014 Jul;49(7):1183-92. Epub 2013 Sep 12 doi: 10.1007/s00535-013-0880-4. PMID: 24026103
Schrader H, Wiese M, Ellrichmann M, Belyaev O, Uhl W, Tannapfel A, Schmidt W, Meier J
Ultraschall Med 2012 Dec;33(7):E196-201. Epub 2011 May 31 doi: 10.1055/s-0031-1273256. PMID: 21630184
Hashimoto Y, Sclabas GM, Takahashi N, Kirihara Y, Smyrk TC, Huebner M, Farnell MB
J Gastrointest Surg 2011 Dec;15(12):2193-204. Epub 2011 Sep 27 doi: 10.1007/s11605-011-1687-3. PMID: 21948179

Therapy

Kiyochi H, Matsukage S, Nakamura T, Ishida N, Takada Y, Kajiwara S
World J Surg 2015 Dec;39(12):2967-74. doi: 10.1007/s00268-015-3211-5. PMID: 26304612
Ishiwatari H, Sato Y, Murase K, Yoneda A, Fujita R, Nishita H, Birukawa NK, Hayashi T, Sato T, Miyanishi K, Takimoto R, Kobune M, Ota S, Kimura Y, Hirata K, Kato J, Niitsu Y
Gut 2013 Sep;62(9):1328-39. Epub 2012 Nov 20 doi: 10.1136/gutjnl-2011-301746. PMID: 23172890
Hashimoto Y, Sclabas GM, Takahashi N, Kirihara Y, Smyrk TC, Huebner M, Farnell MB
J Gastrointest Surg 2011 Dec;15(12):2193-204. Epub 2011 Sep 27 doi: 10.1007/s11605-011-1687-3. PMID: 21948179
Tajima Y, Kuroki T, Kitasato A, Adachi T, Isomoto I, Uetani M, Kanematsu T
J Hepatobiliary Pancreat Sci 2010 Nov;17(6):831-8. Epub 2010 Apr 1 doi: 10.1007/s00534-010-0277-1. PMID: 20734206
Tran TC, van 't Hof G, Kazemier G, Hop WC, Pek C, van Toorenenbergen AW, van Dekken H, van Eijck CH
Dig Surg 2008;25(4):311-8. Epub 2008 Sep 26 doi: 10.1159/000158596. PMID: 18818498

Prognosis

Kiyochi H, Matsukage S, Nakamura T, Ishida N, Takada Y, Kajiwara S
World J Surg 2015 Dec;39(12):2967-74. doi: 10.1007/s00268-015-3211-5. PMID: 26304612
Tanaka K, Tomita H, Osada S, Watanabe H, Imai H, Sasaki Y, Goshima S, Kondo H, Kanematsu M, Hara A, Yoshida K
Anticancer Res 2015 Mar;35(3):1749-56. PMID: 25750338
Hashimoto Y, Sclabas GM, Takahashi N, Kirihara Y, Smyrk TC, Huebner M, Farnell MB
J Gastrointest Surg 2011 Dec;15(12):2193-204. Epub 2011 Sep 27 doi: 10.1007/s11605-011-1687-3. PMID: 21948179
Tajima Y, Kuroki T, Kitasato A, Adachi T, Isomoto I, Uetani M, Kanematsu T
J Hepatobiliary Pancreat Sci 2010 Nov;17(6):831-8. Epub 2010 Apr 1 doi: 10.1007/s00534-010-0277-1. PMID: 20734206
Tran TC, van 't Hof G, Kazemier G, Hop WC, Pek C, van Toorenenbergen AW, van Dekken H, van Eijck CH
Dig Surg 2008;25(4):311-8. Epub 2008 Sep 26 doi: 10.1159/000158596. PMID: 18818498

Clinical prediction guides

Kiyochi H, Matsukage S, Nakamura T, Ishida N, Takada Y, Kajiwara S
World J Surg 2015 Dec;39(12):2967-74. doi: 10.1007/s00268-015-3211-5. PMID: 26304612
Tanaka K, Tomita H, Osada S, Watanabe H, Imai H, Sasaki Y, Goshima S, Kondo H, Kanematsu M, Hara A, Yoshida K
Anticancer Res 2015 Mar;35(3):1749-56. PMID: 25750338
Itoh Y, Itoh A, Kawashima H, Ohno E, Nakamura Y, Hiramatsu T, Sugimoto H, Sumi H, Hayashi D, Kuwahara T, Morishima T, Funasaka K, Nakamura M, Miyahara R, Ohmiya N, Katano Y, Ishigami M, Goto H, Hirooka Y
J Gastroenterol 2014 Jul;49(7):1183-92. Epub 2013 Sep 12 doi: 10.1007/s00535-013-0880-4. PMID: 24026103
Hashimoto Y, Sclabas GM, Takahashi N, Kirihara Y, Smyrk TC, Huebner M, Farnell MB
J Gastrointest Surg 2011 Dec;15(12):2193-204. Epub 2011 Sep 27 doi: 10.1007/s11605-011-1687-3. PMID: 21948179
Tran TC, van 't Hof G, Kazemier G, Hop WC, Pek C, van Toorenenbergen AW, van Dekken H, van Eijck CH
Dig Surg 2008;25(4):311-8. Epub 2008 Sep 26 doi: 10.1159/000158596. PMID: 18818498

Recent systematic reviews

Bentrem DJ, Joehl RJ
Crit Care Med 2003 Aug;31(8 Suppl):S582-9. doi: 10.1097/01.CCM.0000081428.35729.73. PMID: 12907888

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